Publications

Displaying 301 - 400 of 2080
  • Cristia, A., Dupoux, E., Hakuno, Y., Lloyd-Fox, S., Schuetze, M., Kivits, J., Bergvelt, T., Van Gelder, M., Filippin, L., Charron, S., & Minagawa-Kawai, Y. (2013). An online database of infant functional Near InfraRed Spectroscopy studies: A community-augmented systematic review. PLoS One, 8(3): e58906. doi:10.1371/journal.pone.0058906.

    Abstract

    Until recently, imaging the infant brain was very challenging. Functional Near InfraRed Spectroscopy (fNIRS) is a promising, relatively novel technique, whose use is rapidly expanding. As an emergent field, it is particularly important to share methodological knowledge to ensure replicable and robust results. In this paper, we present a community-augmented database which will facilitate precisely this exchange. We tabulated articles and theses reporting empirical fNIRS research carried out on infants below three years of age along several methodological variables. The resulting spreadsheet has been uploaded in a format allowing individuals to continue adding new results, and download the most recent version of the table. Thus, this database is ideal to carry out systematic reviews. We illustrate its academic utility by focusing on the factors affecting three key variables: infant attrition, the reliability of oxygenated and deoxygenated responses, and signal-to-noise ratios. We then discuss strengths and weaknesses of the DBIfNIRS, and conclude by suggesting a set of simple guidelines aimed to facilitate methodological convergence through the standardization of reports.
  • Cristia, A. (2013). Input to language: The phonetics of infant-directed speech. Language and Linguistics Compass, 7, 157-170. doi:10.1111/lnc3.12015.

    Abstract

    Over the first year of life, infant perception changes radically as the child learns the phonology of the ambient language from the speech she is exposed to. Since infant-directed speech attracts the child's attention more than other registers, it is necessary to describe that input in order to understand language development, and to address questions of learnability. In this review, evidence from corpora analyses, experimental studies, and observational paradigms is brought together to outline the first comprehensive empirical picture of infant-directed speech and its effects on language acquisition. The ensuing landscape suggests that infant-directed speech provides an emotionally and linguistically rich input to language acquisition

    Additional information

    Cristia_Suppl_Material.xls
  • Cristia, A., Ganesh, S., Casillas, M., & Ganapathy, S. (2018). Talker diarization in the wild: The case of child-centered daylong audio-recordings. In Proceedings of Interspeech 2018 (pp. 2583-2587). doi:10.21437/Interspeech.2018-2078.

    Abstract

    Speaker diarization (answering 'who spoke when') is a widely researched subject within speech technology. Numerous experiments have been run on datasets built from broadcast news, meeting data, and call centers—the task sometimes appears close to being solved. Much less work has begun to tackle the hardest diarization task of all: spontaneous conversations in real-world settings. Such diarization would be particularly useful for studies of language acquisition, where researchers investigate the speech children produce and hear in their daily lives. In this paper, we study audio gathered with a recorder worn by small children as they went about their normal days. As a result, each child was exposed to different acoustic environments with a multitude of background noises and a varying number of adults and peers. The inconsistency of speech and noise within and across samples poses a challenging task for speaker diarization systems, which we tackled via retraining and data augmentation techniques. We further studied sources of structured variation across raw audio files, including the impact of speaker type distribution, proportion of speech from children, and child age on diarization performance. We discuss the extent to which these findings might generalize to other samples of speech in the wild.
  • Cristia, A., Mielke, J., Daland, R., & Peperkamp, S. (2013). Similarity in the generalization of implicitly learned sound patterns. Journal of Laboratory Phonology, 4(2), 259-285.

    Abstract

    A core property of language is the ability to generalize beyond observed examples. In two experiments, we explore how listeners generalize implicitly learned sound patterns to new nonwords and to new sounds, with the goal of shedding light on how similarity affects treatment of potential generalization targets. During the exposure phase, listeners heard nonwords whose onset consonant was restricted to a subset of a natural class (e.g., /d g v z Z/). During the test phase, listeners were presented with new nonwords and asked to judge how frequently they had been presented before; some of the test items began with a consonant from the exposure set (e.g., /d/), and some began with novel consonants with varying relations to the exposure set (e.g., /b/, which is highly similar to all onsets in the training set; /t/, which is highly similar to one of the training onsets; and /p/, which is less similar than the other two). The exposure onset was rated most frequent, indicating that participants encoded onset attestation in the exposure set, and generalized it to new nonwords. Participants also rated novel consonants as somewhat frequent, indicating generalization to onsets that did not occur in the exposure phase. While generalization could be accounted for in terms of featural distance, it was insensitive to natural class structure. Generalization to new sounds was predicted better by models requiring prior linguistic knowledge (either traditional distinctive features or articulatory phonetic information) than by a model based on a linguistically naïve measure of acoustic similarity.
  • Croijmans, I., Hendrickx, I., Lefever, E., Majid, A., & Van den Bosch, A. (2020). Uncovering the language of wine experts. Natural Language Engineering, 26(5), 511-530. doi:10.1017/S1351324919000500.

    Abstract

    Talking about odors and flavors is difficult for most people, yet experts appear to be able to convey critical information about wines in their reviews. This seems to be a contradiction, and wine expert descriptions are frequently received with criticism. Here, we propose a method for probing the language of wine reviews, and thus offer a means to enhance current vocabularies, and as a by-product question the general assumption that wine reviews are gibberish. By means of two different quantitative analyses—support vector machines for classification and Termhood analysis—on a corpus of online wine reviews, we tested whether wine reviews are written in a consistent manner, and thus may be considered informative; and whether reviews feature domain-specific language. First, a classification paradigm was trained on wine reviews from one set of authors for which the color, grape variety, and origin of a wine were known, and subsequently tested on data from a new author. This analysis revealed that, regardless of individual differences in vocabulary preferences, color and grape variety were predicted with high accuracy. Second, using Termhood as a measure of how words are used in wine reviews in a domain-specific manner compared to other genres in English, a list of 146 wine-specific terms was uncovered. These words were compared to existing lists of wine vocabulary that are currently used to train experts. Some overlap was observed, but there were also gaps revealed in the extant lists, suggesting these lists could be improved by our automatic analysis.
  • Croijmans, I. (2018). Wine expertise shapes olfactory language and cognition. PhD Thesis, Radboud University, Nijmegen.
  • Cronin, K. A., Kurian, A. V., & Snowdon, C. T. (2005). Cooperative problem solving in a cooperatively breeding primate. Animal Behaviour, 69, 133-142. doi:10.1016/j.anbehav.2004.02.024.

    Abstract

    We investigated cooperative problem solving in unrelated pairs of the cooperatively breeding cottontop tamarin, Saguinus oedipus, to assess the cognitive basis of cooperative behaviour in this species and to compare abilities with other apes and monkeys. A transparent apparatus was used that required extension of two handles at opposite ends of the apparatus for access to rewards. Resistance was applied to both handles so that two tamarins had to act simultaneously in order to receive rewards. In contrast to several previous studies of cooperation, both tamarins received rewards as a result of simultaneous pulling. The results from two experiments indicated that the cottontop tamarins (1) had a much higher success rate and efficiency of pulling than many of the other species previously studied, (2) adjusted pulling behaviour to the presence or absence of a partner, and (3) spontaneously developed sustained pulling techniques to solve the task. These findings suggest that cottontop tamarins understand the role of the partner in this cooperative task, a cognitive ability widely ascribed only to great apes. The cooperative social system of tamarins, the intuitive design of the apparatus, and the provision of rewards to both participants may explain the performance of the tamarins.
  • Cronin, K. A. (2013). [Review of the book Chimpanzees of the Lakeshore: Natural history and culture at Mahale by Toshisada Nishida]. Animal Behaviour, 85, 685-686. doi:10.1016/j.anbehav.2013.01.001.

    Abstract

    First paragraph: Motivated by his quest to characterize the society of the last common ancestor of humans and other great apes, Toshisada Nishida set out as a graduate student to the Mahale Mountains on the eastern shore of Lake Tanganyika, Tanzania. This book is a story of his 45 years with the Mahale chimpanzees, or as he calls it, their ethnography. Beginning with his accounts of meeting the Tongwe people and the challenges of provisioning the chimpanzees for habituation, Nishida reveals how he slowly unravelled the unit group and community basis of chimpanzee social organization. The book begins and ends with a feeling of chronological order, starting with his arrival at Mahale and ending with an eye towards the future, with concrete recommendations for protecting wild chimpanzees. However, the bulk of the book is topically organized with chapters on feeding behaviour, growth and development, play and exploration, communication, life histories, sexual strategies, politics and culture.
  • Cross, Z. R., Santamaria, A., Corcoran, A. W., Chatburn, A., Alday, P. M., Coussens, S., & Kohler, M. J. (2020). Individual alpha frequency modulates sleep-related emotional memory consolidation. Neuropsychologia, 148: 107660. doi:10.1016/j.neuropsychologia.2020.107660.

    Abstract

    Alpha-band oscillatory activity is involved in modulating memory and attention. However, few studies have investigated individual differences in oscillatory activity during the encoding of emotional memory, particularly in sleep paradigms where sleep is thought to play an active role in memory consolidation. The current study aimed to address the question of whether individual alpha frequency (IAF) modulates the consolidation of declarative memory across periods of sleep and wake. 22 participants aged 18 – 41 years (mean age = 25.77) viewed 120 emotionally valenced images (positive, negative, neutral) and completed a baseline memory task before a 2hr afternoon sleep opportunity and an equivalent period of wake. Following the sleep and wake conditions, participants were required to distinguish between 120 learned (target) images and 120 new (distractor) images. This method allowed us to delineate the role of different oscillatory components of sleep and wake states in the emotional modulation of memory. Linear mixed-effects models revealed interactions between IAF, rapid eye movement sleep theta power, and slow-wave sleep slow oscillatory density on memory outcomes. These results highlight the importance of individual factors in the EEG in modulating oscillatory-related memory consolidation and subsequent behavioural outcomes and test predictions proposed by models of sleep-based memory consolidation.

    Additional information

    supplementary data
  • Croxson, P., Forkel, S. J., Cerliani, L., & Thiebaut De Schotten, M. (2018). Structural Variability Across the Primate Brain: A Cross-Species Comparison. Cerebral Cortex, 28(11), 3829-3841. doi:10.1093/cercor/bhx244.

    Abstract

    A large amount of variability exists across human brains; revealed initially on a small scale by postmortem studies and,
    more recently, on a larger scale with the advent of neuroimaging. Here we compared structural variability between human
    and macaque monkey brains using grey and white matter magnetic resonance imaging measures. The monkey brain was
    overall structurally as variable as the human brain, but variability had a distinct distribution pattern, with some key areas
    showing high variability. We also report the first evidence of a relationship between anatomical variability and evolutionary
    expansion in the primate brain. This suggests a relationship between variability and stability, where areas of low variability
    may have evolved less recently and have more stability, while areas of high variability may have evolved more recently and
    be less similar across individuals. We showed specific differences between the species in key areas, including the amount of
    hemispheric asymmetry in variability, which was left-lateralized in the human brain across several phylogenetically recent
    regions. This suggests that cerebral variability may be another useful measure for comparison between species and may add
    another dimension to our understanding of evolutionary mechanisms.
  • Cutler, A., Norris, D., & Sebastián-Gallés, N. (2004). Phonemic repertoire and similarity within the vocabulary. In S. Kin, & M. J. Bae (Eds.), Proceedings of the 8th International Conference on Spoken Language Processing (Interspeech 2004-ICSLP) (pp. 65-68). Seoul: Sunjijn Printing Co.

    Abstract

    Language-specific differences in the size and distribution of the phonemic repertoire can have implications for the task facing listeners in recognising spoken words. A language with more phonemes will allow shorter words and reduced embedding of short words within longer ones, decreasing the potential for spurious lexical competitors to be activated by speech signals. We demonstrate that this is the case via comparative analyses of the vocabularies of English and Spanish. A language which uses suprasegmental as well as segmental contrasts, however, can substantially reduce the extent of spurious embedding.
  • Cutler, A., & Broersma, M. (2005). Phonetic precision in listening. In W. J. Hardcastle, & J. M. Beck (Eds.), A figure of speech: A Festschrift for John Laver (pp. 63-91). Mahwah, NJ: Erlbaum.
  • Cutler, A. (2004). Segmentation of spoken language by normal adult listeners. In R. Kent (Ed.), MIT encyclopedia of communication sciences and disorders (pp. 392-395). Cambridge, MA: MIT Press.
  • Cutler, A., Weber, A., Smits, R., & Cooper, N. (2004). Patterns of English phoneme confusions by native and non-native listeners. Journal of the Acoustical Society of America, 116(6), 3668-3678. doi:10.1121/1.1810292.

    Abstract

    Native American English and non-native(Dutch)listeners identified either the consonant or the vowel in all possible American English CV and VC syllables. The syllables were embedded in multispeaker babble at three signal-to-noise ratios(0, 8, and 16 dB). The phoneme identification
    performance of the non-native listeners was less accurate than that of the native listeners. All listeners were adversely affected by noise. With these isolated syllables, initial segments were harder to identify than final segments. Crucially, the effects of language background and noise did not interact; the performance asymmetry between the native and non-native groups was not significantly different across signal-to-noise ratios. It is concluded that the frequently reported disproportionate difficulty of non-native listening under disadvantageous conditions is not due to a disproportionate increase in phoneme misidentifications.
  • Cutler, A. (2004). On spoken-word recognition in a second language. Newsletter, American Association of Teachers of Slavic and East European Languages, 47, 15-15.
  • Cutler, A., Klein, W., & Levinson, S. C. (2005). The cornerstones of twenty-first century psycholinguistics. In A. Cutler (Ed.), Twenty-first century psycholinguistics: Four cornerstones (pp. 1-20). Mahwah, NJ: Erlbaum.
  • Cutler, A. (2005). The lexical statistics of word recognition problems caused by L2 phonetic confusion. In Proceedings of the 9th European Conference on Speech Communication and Technology (pp. 413-416).
  • Cutler, A., McQueen, J. M., & Norris, D. (2005). The lexical utility of phoneme-category plasticity. In Proceedings of the ISCA Workshop on Plasticity in Speech Perception (PSP2005) (pp. 103-107).
  • Cutler, A., & Henton, C. G. (2004). There's many a slip 'twixt the cup and the lip. In H. Quené, & V. Van Heuven (Eds.), On speech and Language: Studies for Sieb G. Nooteboom (pp. 37-45). Utrecht: Netherlands Graduate School of Linguistics.

    Abstract

    The retiring academic may look back upon, inter alia, years of conference attendance. Speech error researchers are uniquely fortunate because they can collect data in any situation involving communication; accordingly, the retiring speech error researcher will have collected data at those conferences. We here address the issue of whether error data collected in situations involving conviviality (such as at conferences) is representative of error data in general. Our approach involved a comparison, across three levels of linguistic processing, between a specially constructed Conviviality Sample and the largest existing source of speech error data, the newly available Fromkin Speech Error Database. The results indicate that there are grounds for regarding the data in the Conviviality Sample as a better than average reflection of the true population of all errors committed. These findings encourage us to recommend further data collection in collaboration with like-minded colleagues.
  • Cutler, A. (2004). Twee regels voor academische vorming. In H. Procee (Ed.), Bij die wereld wil ik horen! Zesendertig columns en drie essays over de vorming tot academicus. (pp. 42-45). Amsterdam: Boom.
  • Cutler, A. (Ed.). (2005). Twenty-first century psycholinguistics: Four cornerstones. Mahwah, NJ: Erlbaum.
  • Cutler, A., Smits, R., & Cooper, N. (2005). Vowel perception: Effects of non-native language vs. non-native dialect. Speech Communication, 47(1-2), 32-42. doi:10.1016/j.specom.2005.02.001.

    Abstract

    Three groups of listeners identified the vowel in CV and VC syllables produced by an American English talker. The listeners were (a) native speakers of American English, (b) native speakers of Australian English (different dialect), and (c) native speakers of Dutch (different language). The syllables were embedded in multispeaker babble at three signal-to-noise ratios (0 dB, 8 dB, and 16 dB). The identification performance of native listeners was significantly better than that of listeners with another language but did not significantly differ from the performance of listeners with another dialect. Dialect differences did however affect the type of perceptual confusions which listeners made; in particular, the Australian listeners’ judgements of vowel tenseness were more variable than the American listeners’ judgements, which may be ascribed to cross-dialectal differences in this vocalic feature. Although listening difficulty can result when speech input mismatches the native dialect in terms of the precise cues for and boundaries of phonetic categories, the difficulty is very much less than that which arises when speech input mismatches the native language in terms of the repertoire of phonemic categories available.
  • Cutler, A. (2005). Why is it so hard to understand a second language in noise? Newsletter, American Association of Teachers of Slavic and East European Languages, 48, 16-16.
  • Ip, M. H. K., & Cutler, A. (2020). Universals of listening: Equivalent prosodic entrainment in tone and non-tone languages. Cognition, 202: 104311. doi:10.1016/j.cognition.2020.104311.

    Abstract

    In English and Dutch, listeners entrain to prosodic contours to predict where focus will fall in an utterance. Here, we ask whether this strategy is universally available, even in languages with very different phonological systems (e.g., tone versus non-tone languages). In a phoneme detection experiment, we examined whether prosodic entrainment also occurs in Mandarin Chinese, a tone language, where the use of various suprasegmental cues to lexical identity may take precedence over their use in salience. Consistent with the results from Germanic languages, response times were facilitated when preceding intonation predicted high stress on the target-bearing word, and the lexical tone of the target word (i.e., rising versus falling) did not affect the Mandarin listeners' response. Further, the extent to which prosodic entrainment was used to detect the target phoneme was the same in both English and Mandarin listeners. Nevertheless, native Mandarin speakers did not adopt an entrainment strategy when the sentences were presented in English, consistent with the suggestion that L2 listening may be strained by additional functional load from prosodic processing. These findings have implications for how universal and language-specific mechanisms interact in the perception of focus structure in everyday discourse.

    Additional information

    supplementary data
  • Cutler, A., & Otake, T. (1998). Assimilation of place in Japanese and Dutch. In R. Mannell, & J. Robert-Ribes (Eds.), Proceedings of the Fifth International Conference on Spoken Language Processing: vol. 5 (pp. 1751-1754). Sydney: ICLSP.

    Abstract

    Assimilation of place of articulation across a nasal and a following stop consonant is obligatory in Japanese, but not in Dutch. In four experiments the processing of assimilated forms by speakers of Japanese and Dutch was compared, using a task in which listeners blended pseudo-word pairs such as ranga-serupa. An assimilated blend of this pair would be rampa, an unassimilated blend rangpa. Japanese listeners produced significantly more assimilated than unassimilated forms, both with pseudo-Japanese and pseudo-Dutch materials, while Dutch listeners produced significantly more unassimilated than assimilated forms in each materials set. This suggests that Japanese listeners, whose native-language phonology involves obligatory assimilation constraints, represent the assimilated nasals in nasal-stop sequences as unmarked for place of articulation, while Dutch listeners, who are accustomed to hearing unassimilated forms, represent the same nasal segments as marked for place of articulation.
  • Ip, M. H. K., & Cutler, A. (2018). Asymmetric efficiency of juncture perception in L1 and L2. In K. Klessa, J. Bachan, A. Wagner, M. Karpiński, & D. Śledziński (Eds.), Proceedings of Speech Prosody 2018 (pp. 289-296). Baixas, France: ISCA. doi:10.21437/SpeechProsody.2018-59.

    Abstract

    In two experiments, Mandarin listeners resolved potential syntactic ambiguities in spoken utterances in (a) their native language (L1) and (b) English which they had learned as a second language (L2). A new disambiguation task was used, requiring speeded responses to select the correct meaning for structurally ambiguous sentences. Importantly, the ambiguities used in the study are identical in Mandarin and in English, and production data show that prosodic disambiguation of this type of ambiguity is also realised very similarly in the two languages. The perceptual results here showed however that listeners’ response patterns differed for L1 and L2, although there was a significant increase in similarity between the two response patterns with increasing exposure to the L2. Thus identical ambiguity and comparable disambiguation patterns in L1 and L2 do not lead to immediate application of the appropriate L1 listening strategy to L2; instead, it appears that such a strategy may have to be learned anew for the L2.
  • Cutler, A., & Fear, B. D. (1991). Categoricality in acceptability judgements for strong versus weak vowels. In J. Llisterri (Ed.), Proceedings of the ESCA Workshop on Phonetics and Phonology of Speaking Styles (pp. 18.1-18.5). Barcelona, Catalonia: Universitat Autonoma de Barcelona.

    Abstract

    A distinction between strong and weak vowels can be drawn on the basis of vowel quality, of stress, or of both factors. An experiment was conducted in which sets of contextually matched word-intial vowels ranging from clearly strong to clearly weak were cross-spliced, and the naturalness of the resulting words was rated by listeners. The ratings showed that in general cross-spliced words were only significantly less acceptable than unspliced words when schwa was not involved; this supports a categorical distinction based on vowel quality.
  • Cutler, A., & Otake, T. (1997). Contrastive studies of spoken-language processing. Journal of Phonetic Society of Japan, 1, 4-13.
  • Ip, M. H. K., & Cutler, A. (2018). Cue equivalence in prosodic entrainment for focus detection. In J. Epps, J. Wolfe, J. Smith, & C. Jones (Eds.), Proceedings of the 17th Australasian International Conference on Speech Science and Technology (pp. 153-156).

    Abstract

    Using a phoneme detection task, the present series of
    experiments examines whether listeners can entrain to
    different combinations of prosodic cues to predict where focus
    will fall in an utterance. The stimuli were recorded by four
    female native speakers of Australian English who happened to
    have used different prosodic cues to produce sentences with
    prosodic focus: a combination of duration cues, mean and
    maximum F0, F0 range, and longer pre-target interval before
    the focused word onset, only mean F0 cues, only pre-target
    interval, and only duration cues. Results revealed that listeners
    can entrain in almost every condition except for where
    duration was the only reliable cue. Our findings suggest that
    listeners are flexible in the cues they use for focus processing.
  • Cutler, A. (2005). Lexical stress. In D. B. Pisoni, & R. E. Remez (Eds.), The handbook of speech perception (pp. 264-289). Oxford: Blackwell.
  • Cutler, A., Mister, E., Norris, D., & Sebastián-Gallés, N. (2004). La perception de la parole en espagnol: Un cas particulier? In L. Ferrand, & J. Grainger (Eds.), Psycholinguistique cognitive: Essais en l'honneur de Juan Segui (pp. 57-74). Brussels: De Boeck.
  • Cutler, A., Burchfield, L. A., & Antoniou, M. (2018). Factors affecting talker adaptation in a second language. In J. Epps, J. Wolfe, J. Smith, & C. Jones (Eds.), Proceedings of the 17th Australasian International Conference on Speech Science and Technology (pp. 33-36).

    Abstract

    Listeners adapt rapidly to previously unheard talkers by
    adjusting phoneme categories using lexical knowledge, in a
    process termed lexically-guided perceptual learning. Although
    this is firmly established for listening in the native language
    (L1), perceptual flexibility in second languages (L2) is as yet
    less well understood. We report two experiments examining L1
    and L2 perceptual learning, the first in Mandarin-English late
    bilinguals, the second in Australian learners of Mandarin. Both
    studies showed stronger learning in L1; in L2, however,
    learning appeared for the English-L1 group but not for the
    Mandarin-L1 group. Phonological mapping differences from
    the L1 to the L2 are suggested as the reason for this result.
  • Cutler, A. (1998). How listeners find the right words. In Proceedings of the Sixteenth International Congress on Acoustics: Vol. 2 (pp. 1377-1380). Melville, NY: Acoustical Society of America.

    Abstract

    Languages contain tens of thousands of words, but these are constructed from a tiny handful of phonetic elements. Consequently, words resemble one another, or can be embedded within one another, a coup stick snot with standing. me process of spoken-word recognition by human listeners involves activation of multiple word candidates consistent with the input, and direct competition between activated candidate words. Further, human listeners are sensitive, at an early, prelexical, stage of speeeh processing, to constraints on what could potentially be a word of the language.
  • Cutler, A. (1982). Idioms: the older the colder. Linguistic Inquiry, 13(2), 317-320. Retrieved from http://www.jstor.org/stable/4178278?origin=JSTOR-pdf.
  • Cutler, A., Norris, D., & McQueen, J. M. (1996). Lexical access in continuous speech: Language-specific realisations of a universal model. In T. Otake, & A. Cutler (Eds.), Phonological structure and language processing: Cross-linguistic studies (pp. 227-242). Berlin: Mouton de Gruyter.
  • Cutler, A., & Chen, H.-C. (1997). Lexical tone in Cantonese spoken-word processing. Perception and Psychophysics, 59, 165-179. Retrieved from http://www.psychonomic.org/search/view.cgi?id=778.

    Abstract

    In three experiments, the processing of lexical tone in Cantonese was examined. Cantonese listeners more often accepted a nonword as a word when the only difference between the nonword and the word was in tone, especially when the F0 onset difference between correct and erroneous tone was small. Same–different judgments by these listeners were also slower and less accurate when the only difference between two syllables was in tone, and this was true whether the F0 onset difference between the two tones was large or small. Listeners with no knowledge of Cantonese produced essentially the same same-different judgment pattern as that produced by the native listeners, suggesting that the results display the effects of simple perceptual processing rather than of linguistic knowledge. It is argued that the processing of lexical tone distinctions may be slowed, relative to the processing of segmental distinctions, and that, in speeded-response tasks, tone is thus more likely to be misprocessed than is segmental structure.
  • Cutler, A., Mehler, J., Norris, D., & Segui, J. (1988). Limits on bilingualism [Letters to Nature]. Nature, 340, 229-230. doi:10.1038/340229a0.

    Abstract

    SPEECH, in any language, is continuous; speakers provide few reliable cues to the boundaries of words, phrases, or other meaningful units. To understand speech, listeners must divide the continuous speech stream into portions that correspond to such units. This segmentation process is so basic to human language comprehension that psycholinguists long assumed that all speakers would do it in the same way. In previous research1,2, however, we reported that segmentation routines can be language-specific: speakers of French process spoken words syllable by syllable, but speakers of English do not. French has relatively clear syllable boundaries and syllable-based timing patterns, whereas English has relatively unclear syllable boundaries and stress-based timing; thus syllabic segmentation would work more efficiently in the comprehension of French than in the comprehension of English. Our present study suggests that at this level of language processing, there are limits to bilingualism: a bilingual speaker has one and only one basic language.
  • Cutler, A. (1991). Linguistic rhythm and speech segmentation. In J. Sundberg, L. Nord, & R. Carlson (Eds.), Music, language, speech and brain (pp. 157-166). London: Macmillan.
  • Cutler, A., & Farrell, J. (2018). Listening in first and second language. In J. I. Liontas (Ed.), The TESOL encyclopedia of language teaching. New York: Wiley. doi:10.1002/9781118784235.eelt0583.

    Abstract

    Listeners' recognition of spoken language involves complex decoding processes: The continuous speech stream must be segmented into its component words, and words must be recognized despite great variability in their pronunciation (due to talker differences, or to influence of phonetic context, or to speech register) and despite competition from many spuriously present forms supported by the speech signal. L1 listeners deal more readily with all levels of this complexity than L2 listeners. Fortunately, the decoding processes necessary for competent L2 listening can be taught in the classroom. Evidence-based methodologies targeted at the development of efficient speech decoding include teaching of minimal pairs, of phonotactic constraints, and of reduction processes, as well as the use of dictation and L2 video captions.
  • Cutler, A., & Fay, D. A. (1982). One mental lexicon, phonologically arranged: Comments on Hurford’s comments. Linguistic Inquiry, 13, 107-113. Retrieved from http://www.jstor.org/stable/4178262.
  • Cutler, A., Treiman, R., & Van Ooijen, B. (1998). Orthografik inkoncistensy ephekts in foneme detektion? In R. Mannell, & J. Robert-Ribes (Eds.), Proceedings of the Fifth International Conference on Spoken Language Processing: Vol. 6 (pp. 2783-2786). Sydney: ICSLP.

    Abstract

    The phoneme detection task is widely used in spoken word recognition research. Alphabetically literate participants, however, are more used to explicit representations of letters than of phonemes. The present study explored whether phoneme detection is sensitive to how target phonemes are, or may be, orthographically realised. Listeners detected the target sounds [b,m,t,f,s,k] in word-initial position in sequences of isolated English words. Response times were faster to the targets [b,m,t], which have consistent word-initial spelling, than to the targets [f,s,k], which are inconsistently spelled, but only when listeners’ attention was drawn to spelling by the presence in the experiment of many irregularly spelled fillers. Within the inconsistent targets [f,s,k], there was no significant difference between responses to targets in words with majority and minority spellings. We conclude that performance in the phoneme detection task is not necessarily sensitive to orthographic effects, but that salient orthographic manipulation can induce such sensitivity.
  • Cutler, A., & Chen, H.-C. (1995). Phonological similarity effects in Cantonese word recognition. In K. Elenius, & P. Branderud (Eds.), Proceedings of the Thirteenth International Congress of Phonetic Sciences: Vol. 1 (pp. 106-109). Stockholm: Stockholm University.

    Abstract

    Two lexical decision experiments in Cantonese are described in which the recognition of spoken target words as a function of phonological similarity to a preceding prime is investigated. Phonological similaritv in first syllables produced inhibition, while similarity in second syllables led to facilitation. Differences between syllables in tonal and segmental structure had generally similar effects.
  • Cutler, A., & Otake, T. (1996). Phonological structure and its role in language processing. In T. Otake, & A. Cutler (Eds.), Phonological structure and language processing: Cross-linguistic studies (pp. 1-12). Berlin: Mouton de Gruyter.
  • Cutler, A. (1991). Proceed with caution. New Scientist, (1799), 53-54.
  • Cutler, A. (1998). Prosodic structure and word recognition. In A. D. Friederici (Ed.), Language comprehension: A biological perspective (pp. 41-70). Heidelberg: Springer.
  • Cutler, A. (1982). Prosody and sentence perception in English. In J. Mehler, E. C. Walker, & M. Garrett (Eds.), Perspectives on mental representation: Experimental and theoretical studies of cognitive processes and capacities (pp. 201-216). Hillsdale, N.J: Erlbaum.
  • Cutler, A. (1997). Prosody and the structure of the message. In Y. Sagisaka, N. Campbell, & N. Higuchi (Eds.), Computing prosody: Computational models for processing spontaneous speech (pp. 63-66). Heidelberg: Springer.
  • Cutler, A. (1996). Prosody and the word boundary problem. In J. L. Morgan, & K. Demuth (Eds.), Signal to syntax: Bootstrapping from speech to grammar in early acquisition (pp. 87-99). Mahwah, NJ: Erlbaum.
  • Cutler, A. (1991). Prosody in situations of communication: Salience and segmentation. In Proceedings of the Twelfth International Congress of Phonetic Sciences: Vol. 1 (pp. 264-270). Aix-en-Provence: Université de Provence, Service des publications.

    Abstract

    Speakers and listeners have a shared goal: to communicate. The processes of speech perception and of speech production interact in many ways under the constraints of this communicative goal; such interaction is as characteristic of prosodic processing as of the processing of other aspects of linguistic structure. Two of the major uses of prosodic information in situations of communication are to encode salience and segmentation, and these themes unite the contributions to the symposium introduced by the present review.
  • Cutler, A., Dahan, D., & Van Donselaar, W. (1997). Prosody in the comprehension of spoken language: A literature review. Language and Speech, 40, 141-201.

    Abstract

    Research on the exploitation of prosodic information in the recognition of spoken language is reviewed. The research falls into three main areas: the use of prosody in the recognition of spoken words, in which most attention has been paid to the question of whether the prosodic structure of a word plays a role in initial contact with stored lexical representations; the use of prosody in the computation of syntactic structure, in which the resolution of global and local ambiguities has formed the central focus; and the role of prosody in the processing of discourse structure, in which there has been a preponderance of work on the contribution of accentuation and deaccentuation to integration of concepts with an existing discourse model. The review reveals that in each area progress has been made towards new conceptions of prosody's role in processing, and in particular this has involved abandonment of previously held deterministic views of the relationship between prosodic structure and other aspects of linguistic structure
  • Cutler, A. (1997). The comparative perspective on spoken-language processing. Speech Communication, 21, 3-15. doi:10.1016/S0167-6393(96)00075-1.

    Abstract

    Psycholinguists strive to construct a model of human language processing in general. But this does not imply that they should confine their research to universal aspects of linguistic structure, and avoid research on language-specific phenomena. First, even universal characteristics of language structure can only be accurately observed cross-linguistically. This point is illustrated here by research on the role of the syllable in spoken-word recognition, on the perceptual processing of vowels versus consonants, and on the contribution of phonetic assimilation phonemena to phoneme identification. In each case, it is only by looking at the pattern of effects across languages that it is possible to understand the general principle. Second, language-specific processing can certainly shed light on the universal model of language comprehension. This second point is illustrated by studies of the exploitation of vowel harmony in the lexical segmentation of Finnish, of the recognition of Dutch words with and without vowel epenthesis, and of the contribution of different kinds of lexical prosodic structure (tone, pitch accent, stress) to the initial activation of candidate words in lexical access. In each case, aspects of the universal processing model are revealed by analysis of these language-specific effects. In short, the study of spoken-language processing by human listeners requires cross-linguistic comparison.
  • Cutler, A. (1996). The comparative study of spoken-language processing. In H. T. Bunnell (Ed.), Proceedings of the Fourth International Conference on Spoken Language Processing: Vol. 1 (pp. 1). New York: Institute of Electrical and Electronics Engineers.

    Abstract

    Psycholinguists are saddled with a paradox. Their aim is to construct a model of human language processing, which will hold equally well for the processing of any language, but this aim cannot be achieved just by doing experiments in any language. They have to compare processing of many languages, and actively search for effects which are specific to a single language, even though a model which is itself specific to a single language is really the last thing they want.
  • Cutler, A. (Ed.). (1982). Slips of the tongue and language production. The Hague: Mouton.
  • Cutler, A. (1982). Speech errors: A classified bibliography. Bloomington: Indiana University Linguistics Club.
  • Cutler, A., Van Ooijen, B., Norris, D., & Sanchez-Casas, R. (1996). Speeded detection of vowels: A cross-linguistic study. Perception and Psychophysics, 58, 807-822. Retrieved from http://www.psychonomic.org/search/view.cgi?id=430.

    Abstract

    In four experiments, listeners’ response times to detect vowel targets in spoken input were measured. The first three experiments were conducted in English. In two, one using real words and the other, nonwords, detection accuracy was low, targets in initial syllables were detected more slowly than targets in final syllables, and both response time and missed-response rate were inversely correlated with vowel duration. In a third experiment, the speech context for some subjects included all English vowels, while for others, only five relatively distinct vowels occurred. This manipulation had essentially no effect, and the same response pattern was again observed. A fourth experiment, conducted in Spanish, replicated the results in the first three experiments, except that miss rate was here unrelated to vowel duration. We propose that listeners’ responses to vowel targets in naturally spoken input are effectively cautious, reflecting realistic appreciation of vowel variability in natural context.
  • Cutler, A. (1995). Spoken word recognition and production. In J. L. Miller, & P. D. Eimas (Eds.), Speech, language and communication (pp. 97-136). New York: Academic Press.

    Abstract

    This chapter highlights that most language behavior consists of speaking and listening. The chapter also reveals differences and similarities between speaking and listening. The laboratory study of word production raises formidable problems; ensuring that a particular word is produced may subvert the spontaneous production process. Word production is investigated via slips and tip-of-the-tongue (TOT), primarily via instances of processing failure and via the technique of via the picture-naming task. The methodology of word production is explained in the chapter. The chapter also explains the phenomenon of interaction between various stages of word production and the process of speech recognition. In this context, it explores the difference between sound and meaning and examines whether or not the comparisons are appropriate between the processes of recognition and production of spoken words. It also describes the similarities and differences in the structure of the recognition and production systems. Finally, the chapter highlights the common issues in recognition and production research, which include the nuances of frequency of occurrence, morphological structure, and phonological structure.
  • Cutler, A. (1995). Spoken-word recognition. In G. Bloothooft, V. Hazan, D. Hubert, & J. Llisterri (Eds.), European studies in phonetics and speech communication (pp. 66-71). Utrecht: OTS.
  • Cutler, A. (1995). The perception of rhythm in spoken and written language. In J. Mehler, & S. Franck (Eds.), Cognition on cognition (pp. 283-288). Cambridge, MA: MIT Press.
  • Cutler, A. (1988). The perfect speech error. In L. Hyman, & C. Li (Eds.), Language, speech and mind: Studies in honor of Victoria A. Fromkin (pp. 209-223). London: Croom Helm.
  • Cutler, A., & Otake, T. (1996). The processing of word prosody in Japanese. In P. McCormack, & A. Russell (Eds.), Proceedings of the 6th Australian International Conference on Speech Science and Technology (pp. 599-604). Canberra: Australian Speech Science and Technology Association.
  • Cutler, A., & McQueen, J. M. (1995). The recognition of lexical units in speech. In B. De Gelder, & J. Morais (Eds.), Speech and reading: A comparative approach (pp. 33-47). Hove, UK: Erlbaum.
  • Cutler, A. (1998). The recognition of spoken words with variable representations. In D. Duez (Ed.), Proceedings of the ESCA Workshop on Sound Patterns of Spontaneous Speech (pp. 83-92). Aix-en-Provence: Université de Aix-en-Provence.
  • Cutler, A., & Norris, D. (1988). The role of strong syllables in segmentation for lexical access. Journal of Experimental Psychology: Human Perception and Performance, 14, 113-121. doi:10.1037/0096-1523.14.1.113.

    Abstract

    A model of speech segmentation in a stress language is proposed, according to which the occurrence of a strong syllable triggers segmentation of the speech signal, whereas occurrence of a weak syllable does not trigger segmentation. We report experiments in which listeners detected words embedded in nonsense bisyllables more slowly when the bisyllable had two strong syllables than when it had a strong and a weak syllable; mint was detected more slowly in mintayve than in mintesh. According to our proposed model, this result is an effect of segmentation: When the second syllable is strong, it is segmented from the first syllable, and successful detection of the embedded word therefore requires assembly of speech material across a segmentation position. Speech recognition models involving phonemic or syllabic recoding, or based on strictly left-to-right processes, do not predict this result. It is argued that segmentation at strong syllables in continuous speech recognition serves the purpose of detecting the most efficient locations at which to initiate lexical access. (C) 1988 by the American Psychological Association
  • Cutler, A. (1997). The syllable’s role in the segmentation of stress languages. Language and Cognitive Processes, 12, 839-845. doi:10.1080/016909697386718.
  • Cutler, A., & Butterfield, S. (1991). Word boundary cues in clear speech: A supplementary report. Speech Communication, 10, 335-353. doi:10.1016/0167-6393(91)90002-B.

    Abstract

    One of a listener's major tasks in understanding continuous speech is segmenting the speech signal into separate words. When listening conditions are difficult, speakers can help listeners by deliberately speaking more clearly. In four experiments, we examined how word boundaries are produced in deliberately clear speech. In an earlier report we showed that speakers do indeed mark word boundaries in clear speech, by pausing at the boundary and lengthening pre-boundary syllables; moreover, these effects are applied particularly to boundaries preceding weak syllables. In English, listeners use segmentation procedures which make word boundaries before strong syllables easier to perceive; thus marking word boundaries before weak syllables in clear speech will make clear precisely those boundaries which are otherwise hard to perceive. The present report presents supplementary data, namely prosodic analyses of the syllable following a critical word boundary. More lengthening and greater increases in intensity were applied in clear speech to weak syllables than to strong. Mean F0 was also increased to a greater extent on weak syllables than on strong. Pitch movement, however, increased to a greater extent on strong syllables than on weak. The effects were, however, very small in comparison to the durational effects we observed earlier for syllables preceding the boundary and for pauses at the boundary.
  • Cutler, A. (Ed.). (2005). Twenty-first century psycholinguistics: Four cornerstones. Hillsdale, NJ: Erlbaum.
  • Cutler, A. (1995). Universal and Language-Specific in the Development of Speech. Biology International, (Special Issue 33).
  • Cutler, A., & Bruggeman, L. (2013). Vocabulary structure and spoken-word recognition: Evidence from French reveals the source of embedding asymmetry. In Proceedings of INTERSPEECH: 14th Annual Conference of the International Speech Communication Association (pp. 2812-2816).

    Abstract

    Vocabularies contain hundreds of thousands of words built from only a handful of phonemes, so that inevitably longer words tend to contain shorter ones. In many languages (but not all) such embedded words occur more often word-initially than word-finally, and this asymmetry, if present, has farreaching consequences for spoken-word recognition. Prior research had ascribed the asymmetry to suffixing or to effects of stress (in particular, final syllables containing the vowel schwa). Analyses of the standard French vocabulary here reveal an effect of suffixing, as predicted by this account, and further analyses of an artificial variety of French reveal that extensive final schwa has an independent and additive effect in promoting the embedding asymmetry.
  • Cutter, M. G., Martin, A. E., & Sturt, P. (2020). Capitalization interacts with syntactic complexity. Journal of Experimental Psychology: Learning, Memory, and Cognition, 46(6), 1146-1164. doi:10.1037/xlm0000780.

    Abstract

    We investigated whether readers use the low-level cue of proper noun capitalization in the parafovea to infer syntactic category, and whether this results in an early update of the representation of a sentence’s syntactic structure. Participants read sentences containing either a subject relative or object relative clause, in which the relative clause’s overt argument was a proper noun (e.g., The tall lanky guard who alerted Charlie/Charlie alerted to the danger was young) across three experiments. In Experiment 1 these sentences were presented in normal sentence casing or entirely in upper case. In Experiment 2 participants received either valid or invalid parafoveal previews of the relative clause. In Experiment 3 participants viewed relative clauses in only normal conditions. We hypothesized that we would observe relative clause effects (i.e., inflated fixation times for object relative clauses) while readers were still fixated on the word who, if readers use capitalization to infer a parafoveal word’s syntactic class. This would constitute a syntactic parafoveal-on-foveal effect. Furthermore, we hypothesised that this effect should be influenced by sentence casing in Experiment 1 (with no cue for syntactic category being available in upper case sentences) but not by parafoveal preview validity of the target words. We observed syntactic parafoveal-on-foveal effects in Experiment 1 and 3, and a Bayesian analysis of the combined data from all three experiments. These effects seemed to be influenced more by noun capitalization than lexical processing. We discuss our findings in relation to models of eye movement control and sentence processing theories.
  • Cutter, M. G., Martin, A. E., & Sturt, P. (2020). Readers detect an low-level phonological violation between two parafoveal words. Cognition, 204: 104395. doi:10.1016/j.cognition.2020.104395.

    Abstract

    In two eye-tracking studies we investigated whether readers can detect a violation of the phonological-grammatical convention for the indefinite article an to be followed by a word beginning with a vowel when these two words appear in the parafovea. Across two experiments participants read sentences in which the word an was followed by a parafoveal preview that was either correct (e.g. Icelandic), incorrect and represented a phonological violation (e.g. Mongolian), or incorrect without representing a phonological violation (e.g. Ethiopian), with this parafoveal preview changing to the target word as participants made a saccade into the space preceding an. Our data suggests that participants detected the phonological violation while the target word was still two words to the right of fixation, with participants making more regressions from the previewed word and having longer go-past times on this word when they received a violation preview as opposed to a non-violation preview. We argue that participants were attempting to perform aspects of sentence integration on the basis of low-level orthographic information from the previewed word.

    Additional information

    Data files and R Scripts
  • Cutter, M. G., Martin, A. E., & Sturt, P. (2020). The activation of contextually predictable words in syntactically illegal positions. Quarterly Journal of Experimental Psychology, 73(9), 1423-1430. doi:10.1177/1747021820911021.

    Abstract

    We present an eye-tracking study testing a hypothesis emerging from several theories of prediction during language processing, whereby predictable words should be skipped more than unpredictable words even in syntactically illegal positions. Participants read sentences in which a target word became predictable by a certain point (e.g., “bone” is 92% predictable given, “The dog buried his. . .”), with the next word actually being an intensifier (e.g., “really”), which a noun cannot follow. The target noun remained predictable to appear later in the sentence. We used the boundary paradigm to present the predictable noun or an alternative unpredictable noun (e.g., “food”) directly after the intensifier, until participants moved beyond the intensifier, at which point the noun changed to a syntactically legal word. Participants also read sentences in which predictable or unpredictable nouns appeared in syntactically legal positions. A Bayesian linear-mixed model suggested a 5.7% predictability effect on skipping of nouns in syntactically legal positions, and a 3.1% predictability effect on skipping of nouns in illegal positions. We discuss our findings in relation to theories of lexical prediction during reading.

    Additional information

    OSF data
  • Cychosz, M., Romeo, R., Soderstrom, M., Scaff, C., Ganek, H., Cristia, A., Casillas, M., De Barbaro, K., Bang, J. Y., & Weisleder, A. (2020). Longform recordings of everyday life: Ethics for best practices. Behavior Research Methods, 52, 1951-1969. doi:10.3758/s13428-020-01365-9.

    Abstract

    Recent advances in large-scale data storage and processing offer unprecedented opportunities for behavioral scientists to collect and analyze naturalistic data, including from under-represented groups. Audio data, particularly real-world audio recordings, are of particular interest to behavioral scientists because they provide high-fidelity access to subtle aspects of daily life and social interactions. However, these methodological advances pose novel risks to research participants and communities. In this article, we outline the benefits and challenges associated with collecting, analyzing, and sharing multi-hour audio recording data. Guided by the principles of autonomy, privacy, beneficence, and justice, we propose a set of ethical guidelines for the use of longform audio recordings in behavioral research. This article is also accompanied by an Open Science Framework Ethics Repository that includes informed consent resources such as frequent participant concerns and sample consent forms.
  • Dahan, D., & Tanenhaus, M. K. (2004). Continuous mapping from sound to meaning in spoken-language comprehension: Immediate effects of verb-based thematic constraints. Journal of Experimental Psychology: Learning, Memory, and Cognition, 30(2), 498-513. doi:10.1037/0278-7393.30.2.498.

    Abstract

    The authors used 2 “visual-world” eye-tracking experiments to examine lexical access using Dutch constructions in which the verb did or did not place semantic constraints on its subsequent subject noun phrase. In Experiment 1, fixations to the picture of a cohort competitor (overlapping with the onset of the referent’s name, the subject) did not differ from fixations to a distractor in the constraining-verb condition. In Experiment 2, cross-splicing introduced phonetic information that temporarily biased the input toward the cohort competitor. Fixations to the cohort competitor temporarily increased in both the neutral and constraining conditions. These results favor models in which mapping from the input onto meaning is continuous over models in which contextual effects follow access of an initial form-based competitor set.
  • Dahan, D., & Tanenhaus, M. K. (2005). Looking at the rope when looking for the snake: Conceptually mediated eye movements during spoken-word recognition. Psychonomic Bulletin & Review, 12(3), 453-459.

    Abstract

    Participants' eye movements to four objects displayed on a computer screen were monitored as the participants clicked on the object named in a spoken instruction. The display contained pictures of the referent (e.g., a snake), a competitor that shared features with the visual representation associated with the referent's concept (e.g., a rope), and two distractor objects (e.g., a couch and an umbrella). As the first sounds of the referent's name were heard, the participants were more likely to fixate the visual competitor than to fixate either of the distractor objects. Moreover, this effect was not modulated by the visual similarity between the referent and competitor pictures, independently estimated in a visual similarity rating task. Because the name of the visual competitor did not overlap with the phonetic input, eye movements reflected word-object matching at the level of lexically activated perceptual features and not merely at the level of preactivated sound forms.
  • Dai, B., Chen, C., Long, Y., Zheng, L., Zhao, H., Bai, X., Liu, W., Zhang, Y., Liu, L., Guo, T., Ding, G., & Lu, C. (2018). Neural mechanisms for selectively tuning into the target speaker in a naturalistic noisy situation. Nature Communications, 9: 2405. doi:10.1038/s41467-018-04819-z.

    Abstract

    The neural mechanism for selectively tuning in to a target speaker while tuning out the others in a multi-speaker situation (i.e., the cocktail-party effect) remains elusive. Here we addressed this issue by measuring brain activity simultaneously from a listener and from multiple speakers while they were involved in naturalistic conversations. Results consistently show selectively enhanced interpersonal neural synchronization (INS) between the listener and the attended speaker at left temporal–parietal junction, compared with that between the listener and the unattended speaker across different multi-speaker situations. Moreover, INS increases significantly prior to the occurrence of verbal responses, and even when the listener’s brain activity precedes that of the speaker. The INS increase is independent of brain-to-speech synchronization in both the anatomical location and frequency range. These findings suggest that INS underlies the selective process in a multi-speaker situation through neural predictions at the content level but not the sensory level of speech.

    Additional information

    Dai_etal_2018_sup.pdf
  • D'Alessandra, Y., Carena, M. C., Spazzafumo, L., Martinelli, F., Bassetti, B., Devanna, P., Rubino, M., Marenzi, G., Colombo, G. I., Achilli, F., Maggiolini, S., Capogrossi, M. C., & Pompilio, G. (2013). Diagnostic Potential of Plasmatic MicroRNA Signatures in Stable and Unstable Angina. PLoS ONE, 8(11), e80345. doi:10.1371/journal.pone.0080345.

    Abstract

    PURPOSE: We examined circulating miRNA expression profiles in plasma of patients with coronary artery disease (CAD) vs. matched controls, with the aim of identifying novel discriminating biomarkers of Stable (SA) and Unstable (UA) angina. METHODS: An exploratory analysis of plasmatic expression profile of 367 miRNAs was conducted in a group of SA and UA patients and control donors, using TaqMan microRNA Arrays. Screening confirmation and expression analysis were performed by qRT-PCR: all miRNAs found dysregulated were examined in the plasma of troponin-negative UA (n=19) and SA (n=34) patients and control subjects (n=20), matched for sex, age, and cardiovascular risk factors. In addition, the expression of 14 known CAD-associated miRNAs was also investigated. RESULTS: Out of 178 miRNAs consistently detected in plasma samples, 3 showed positive modulation by CAD when compared to controls: miR-337-5p, miR-433, and miR-485-3p. Further, miR-1, -122, -126, -133a, -133b, and miR-199a were positively modulated in both UA and SA patients, while miR-337-5p and miR-145 showed a positive modulation only in SA or UA patients, respectively. ROC curve analyses showed a good diagnostic potential (AUC ≥ 0.85) for miR-1, -126, and -483-5p in SA and for miR-1, -126, and -133a in UA patients vs. controls, respectively. No discriminating AUC values were observed comparing SA vs. UA patients. Hierarchical cluster analysis showed that the combination of miR-1, -133a, and -126 in UA and of miR-1, -126, and -485-3p in SA correctly classified patients vs. controls with an efficiency ≥ 87%. No combination of miRNAs was able to reliably discriminate patients with UA from patients with SA. CONCLUSIONS: This work showed that specific plasmatic miRNA signatures have the potential to accurately discriminate patients with angiographically documented CAD from matched controls. We failed to identify a plasmatic miRNA expression pattern capable to differentiate SA from UA patients.
  • Dalli, A., Tablan, V., Bontcheva, K., Wilks, Y., Broeder, D., Brugman, H., & Wittenburg, P. (2004). Web services architecture for language resources. In M. Lino, M. Xavier, F. Ferreira, R. Costa, & R. Silva (Eds.), Proceedings of the 4th International Conference on Language Resources and Evaluation (LREC2004) (pp. 365-368). Paris: ELRA - European Language Resources Association.
  • Danziger, E. (1995). Intransitive predicate form class survey. In D. Wilkins (Ed.), Extensions of space and beyond: manual for field elicitation for the 1995 field season (pp. 46-53). Nijmegen: Max Planck Institute for Psycholinguistics. doi:10.17617/2.3004298.

    Abstract

    Different linguistic structures allow us to highlight distinct aspects of a situation. The aim of this survey is to investigate similarities and differences in the expression of situations or events as “stative” (maintaining a state), “inchoative” (adopting a state) and “agentive” (causing something to be in a state). The questionnaire focuses on the encoding of stative, inchoative and agentive possibilities for the translation equivalents of a set of English verbs.
  • Danziger, E. (1995). Posture verb survey. In D. Wilkins (Ed.), Extensions of space and beyond: manual for field elicitation for the 1995 field season (pp. 33-34). Nijmegen: Max Planck Institute for Psycholinguistics. doi:10.17617/2.3004235.

    Abstract

    Expressions of human activities and states are a rich area for cross-linguistic comparison. Some languages of the world treat human posture verbs (e.g., sit, lie, kneel) as a special class of predicates, with distinct formal properties. This survey examines lexical, semantic and grammatical patterns for posture verbs, with special reference to contrasts between “stative” (maintaining a posture), “inchoative” (adopting a posture), and “agentive” (causing something to adopt a posture) constructions. The enquiry is thematically linked to the more general questionnaire 'Intransitive Predicate Form Class Survey'.
  • Dastjerdi, M., Ozker, M., Foster, B. L., Rangarajan, V., & Parvizi, J. (2013). Numerical processing in the human parietal cortex during experimental and natural conditions. Nature Communications, 4: 2528. doi:10.1038/ncomms3528.

    Abstract

    Human cognition is traditionally studied in experimental conditions wherein confounding complexities of the natural environment are intentionally eliminated. Thus, it remains unknown how a brain region involved in a particular experimental condition is engaged in natural conditions. Here we use electrocorticography to address this uncertainty in three participants implanted with intracranial electrodes and identify activations of neuronal populations within the intraparietal sulcus region during an experimental arithmetic condition. In a subsequent analysis, we report that the same intraparietal sulcus neural populations are activated when participants, engaged in social conversations, refer to objects with numerical content. Our prototype approach provides a means for both exploring human brain dynamics as they unfold in complex social settings and reconstructing natural experiences from recorded brain signals.
  • Davidson, D., & Martin, A. E. (2013). Modeling accuracy as a function of response time with the generalized linear mixed effects model. Acta Psychologica, 144(1), 83-96. doi:10.1016/j.actpsy.2013.04.016.

    Abstract

    In psycholinguistic studies using error rates as a response measure, response times (RT) are most often analyzed independently of the error rate, although it is widely recognized that they are related. In this paper we present a mixed effects logistic regression model for the error rate that uses RT as a trial-level fixed- and random-effect regression input. Production data from a translation–recall experiment are analyzed as an example. Several model comparisons reveal that RT improves the fit of the regression model for the error rate. Two simulation studies then show how the mixed effects regression model can identify individual participants for whom (a) faster responses are more accurate, (b) faster responses are less accurate, or (c) there is no relation between speed and accuracy. These results show that this type of model can serve as a useful adjunct to traditional techniques, allowing psycholinguistic researchers to examine more closely the relationship between RT and accuracy in individual subjects and better account for the variability which may be present, as well as a preliminary step to more advanced RT–accuracy modeling.
  • Davies, C., McGillion, M., Rowland, C. F., & Matthews, D. (2020). Can inferencing be trained in preschoolers using shared book-reading? A randomised controlled trial of parents’ inference-eliciting questions on oral inferencing ability. Journal of Child Language, 47(3), 655-679. doi:10.1017/S0305000919000801.

    Abstract

    The ability to make inferences is essential for effective language comprehension. While inferencing training benefits reading comprehension in school-aged children (see Elleman, 2017, for a review), we do not yet know whether it is beneficial to support the development of these skills prior to school entry. In a pre-registered randomised controlled trial, we evaluated the efficacy of a parent-delivered intervention intended to promote four-year-olds’ oral inferencing skills during shared book-reading. One hundred children from socioeconomically diverse backgrounds were randomly assigned to inferencing training or an active control condition of daily maths activities. The training was found to have no effect on inferencing. However, inferencing measures were highly correlated with children's baseline language ability. This suggests that a more effective approach to scaffolding inferencing in the preschool years might be to focus on promoting vocabulary to develop richer and stronger semantic networks.
  • Davis, M. H., Johnsrude, I. S., Hervais-Adelman, A., Taylor, K., & McGettigan, C. (2005). Lexical information drives perceptual learning of distorted speech: Evidence from the comprehension of noise-vocoded sentences. Journal of Experimental Psychology-General, 134(2), 222-241. doi:10.1037/0096-3445.134.2.222.

    Abstract

    Speech comprehension is resistant to acoustic distortion in the input, reflecting listeners' ability to adjust perceptual processes to match the speech input. For noise-vocoded sentences, a manipulation that removes spectral detail from speech, listeners' reporting improved from near 0% to 70% correct over 30 sentences (Experiment 1). Learning was enhanced if listeners heard distorted sentences while they knew the identity of the undistorted target (Experiments 2 and 3). Learning was absent when listeners were trained with nonword sentences (Experiments 4 and 5), although the meaning of the training sentences did not affect learning (Experiment 5). Perceptual learning of noise-vocoded speech depends on higher level information, consistent with top-down, lexically driven learning. Similar processes may facilitate comprehension of speech in an unfamiliar accent or following cochlear implantation.
  • Debreslioska, S., Ozyurek, A., Gullberg, M., & Perniss, P. M. (2013). Gestural viewpoint signals referent accessibility. Discourse Processes, 50(7), 431-456. doi:10.1080/0163853x.2013.824286.

    Abstract

    The tracking of entities in discourse is known to be a bimodal phenomenon. Speakers achieve cohesion in speech by alternating between full lexical forms, pronouns, and zero anaphora as they track referents. They also track referents in co-speech gestures. In this study, we explored how viewpoint is deployed in reference tracking, focusing on representations of animate entities in German narrative discourse. We found that gestural viewpoint systematically varies depending on discourse context. Speakers predominantly use character viewpoint in maintained contexts and observer viewpoint in reintroduced contexts. Thus, gestural viewpoint seems to function as a cohesive device in narrative discourse. The findings expand on and provide further evidence for the coordination between speech and gesture on the discourse level that is crucial to understanding the tight link between the two modalities.
  • Dediu, D., Cysouw, M., Levinson, S. C., Baronchelli, A., Christiansen, M. H., Croft, W., Evans, N., Garrod, S., Gray, R., Kandler, A., & Lieven, E. (2013). Cultural evolution of language. In P. J. Richerson, & M. H. Christiansen (Eds.), Cultural evolution: Society, technology, language, and religion. Strüngmann Forum Reports, vol. 12 (pp. 303-332). Cambridge, Mass: MIT Press.

    Abstract

    This chapter argues that an evolutionary cultural approach to language not only has already proven fruitful, but it probably holds the key to understand many puzzling aspects of language, its change and origins. The chapter begins by highlighting several still common misconceptions about language that might seem to call into question a cultural evolutionary approach. It explores the antiquity of language and sketches a general evolutionary approach discussing the aspects of function, fi tness, replication, and selection, as well the relevant units of linguistic evolution. In this context, the chapter looks at some fundamental aspects of linguistic diversity such as the nature of the design space, the mechanisms generating it, and the shape and fabric of language. Given that biology is another evolutionary system, its complex coevolution with language needs to be understood in order to have a proper theory of language. Throughout the chapter, various challenges are identifi ed and discussed, sketching promising directions for future research. The chapter ends by listing the necessary data, methods, and theoretical developments required for a grounded evolutionary approach to language.
  • Dediu, D. (2013). Genes: Interactions with language on three levels — Inter-individual variation, historical correlations and genetic biasing. In P.-M. Binder, & K. Smith (Eds.), The language phenomenon: Human communication from milliseconds to millennia (pp. 139-161). Berlin: Springer. doi:10.1007/978-3-642-36086-2_7.

    Abstract

    The complex inter-relationships between genetics and linguistics encompass all four scales highlighted by the contributions to this book and, together with cultural transmission, the genetics of language holds the promise to offer a unitary understanding of this fascinating phenomenon. There are inter-individual differences in genetic makeup which contribute to the obvious fact that we are not identical in the way we understand and use language and, by studying them, we will be able to both better treat and enhance ourselves. There are correlations between the genetic configuration of human groups and their languages, reflecting the historical processes shaping them, and there also seem to exist genes which can influence some characteristics of language, biasing it towards or against certain states by altering the way language is transmitted across generations. Besides the joys of pure knowledge, the understanding of these three aspects of genetics relevant to language will potentially trigger advances in medicine, linguistics, psychology or the understanding of our own past and, last but not least, a profound change in the way we regard one of the emblems of being human: our capacity for language.
  • Dediu, D. (2018). Making genealogical language classifications available for phylogenetic analysis: Newick trees, unified identifiers, and branch length. Language Dynamics and Change, 8(1), 1-21. doi:10.1163/22105832-00801001.

    Abstract

    One of the best-known types of non-independence between languages is caused by genealogical relationships due to descent from a common ancestor. These can be represented by (more or less resolved and controversial) language family trees. In theory, one can argue that language families should be built through the strict application of the comparative method of historical linguistics, but in practice this is not always the case, and there are several proposed classifications of languages into language families, each with its own advantages and disadvantages. A major stumbling block shared by most of them is that they are relatively difficult to use with computational methods, and in particular with phylogenetics. This is due to their lack of standardization, coupled with the general non-availability of branch length information, which encapsulates the amount of evolution taking place on the family tree. In this paper I introduce a method (and its implementation in R) that converts the language classifications provided by four widely-used databases (Ethnologue, WALS, AUTOTYP and Glottolog) intothe de facto Newick standard generally used in phylogenetics, aligns the four most used conventions for unique identifiers of linguistic entities (ISO 639-3, WALS, AUTOTYP and Glottocode), and adds branch length information from a variety of sources (the tree's own topology, an externally given numeric constant, or a distance matrix). The R scripts, input data and resulting Newick trees are available under liberal open-source licenses in a GitHub repository (https://github.com/ddediu/lgfam-newick), to encourage and promote the use of phylogenetic methods to investigate linguistic diversity and its temporal dynamics.
  • Dediu, D., & Levinson, S. C. (2018). Neanderthal language revisited: Not only us. Current Opinion in Behavioral Sciences, 21, 49-55. doi:10.1016/j.cobeha.2018.01.001.

    Abstract

    Here we re-evaluate our 2013 paper on the antiquity of language (Dediu and Levinson, 2013) in the light of a surge of new information on human evolution in the last half million years. Although new genetic data suggest the existence of some cognitive differences between Neanderthals and modern humans — fully expected after hundreds of thousands of years of partially separate evolution, overall our claims that Neanderthals were fully articulate beings and that language evolution was gradual are further substantiated by the wealth of new genetic, paleontological and archeological evidence briefly reviewed here.
  • Dediu, D., & Levinson, S. C. (2013). On the antiquity of language: The reinterpretation of Neandertal linguistic capacities and its consequences. Frontiers in Language Sciences, 4: 397. doi:10.3389/fpsyg.2013.00397.

    Abstract

    It is usually assumed that modern language is a recent phenomenon, coinciding with the emergence of modern humans themselves. Many assume as well that this is the result of a single, sudden mutation giving rise to the full “modern package”. However, we argue here that recognizably modern language is likely an ancient feature of our genus pre-dating at least the common ancestor of modern humans and Neandertals about half a million years ago. To this end, we adduce a broad range of evidence from linguistics, genetics, palaeontology and archaeology clearly suggesting that Neandertals shared with us something like modern speech and language. This reassessment of the antiquity of modern language, from the usually quoted 50,000-100,000 years to half a million years, has profound consequences for our understanding of our own evolution in general and especially for the sciences of speech and language. As such, it argues against a saltationist scenario for the evolution of language, and towards a gradual process of culture-gene co-evolution extending to the present day. Another consequence is that the present-day linguistic diversity might better reflect the properties of the design space for language and not just the vagaries of history, and could also contain traces of the languages spoken by other human forms such as the Neandertals.
  • Dediu, D., & Cysouw, M. A. (2013). Some structural aspects of language are more stable than others: A comparison of seven methods. PLoS One, 8: e55009. doi:10.1371/journal.pone.0055009.

    Abstract

    Understanding the patterns and causes of differential structural stability is an area of major interest for the study of language change and evolution. It is still debated whether structural features have intrinsic stabilities across language families and geographic areas, or if the processes governing their rate of change are completely dependent upon the specific context of a given language or language family. We conducted an extensive literature review and selected seven different approaches to conceptualising and estimating the stability of structural linguistic features, aiming at comparing them using the same dataset, the World Atlas of Language Structures. We found that, despite profound conceptual and empirical differences between these methods, they tend to agree in classifying some structural linguistic features as being more stable than others. This suggests that there are intrinsic properties of such structural features influencing their stability across methods, language families and geographic areas. This finding is a major step towards understanding the nature of structural linguistic features and their interaction with idiosyncratic, lineage- and area-specific factors during language change and evolution.
  • Degand, L., & Van Bergen, G. (2018). Discourse markers as turn-transition devices: Evidence from speech and instant messaging. Discourse Processes, 55, 47-71. doi:10.1080/0163853X.2016.1198136.

    Abstract

    In this article we investigate the relation between discourse markers and turn-transition strategies in face-to-face conversations and Instant Messaging (IM), that is, unplanned, real-time, text-based, computer-mediated communication. By means of a quantitative corpus study of utterances containing a discourse marker, we show that utterance-final discourse markers are used more often in IM than in face-to-face conversations. Moreover, utterance-final discourse markers are shown to occur more often at points of turn-transition compared with points of turn-maintenance in both types of conversation. From our results we conclude that the discourse markers in utterance-final position can function as a turn-transition mechanism, signaling that the turn is over and the floor is open to the hearer. We argue that this linguistic turn-taking strategy is essentially similar in face-to-face and IM communication. Our results add to the evidence that communication in IM is more like speech than like writing.
  • Delgado, T., Ravignani, A., Verhoef, T., Thompson, B., Grossi, T., & Kirby, S. (2018). Cultural transmission of melodic and rhythmic universals: Four experiments and a model. In C. Cuskley, M. Flaherty, H. Little, L. McCrohon, A. Ravignani, & T. Verhoef (Eds.), Proceedings of the 12th International Conference on the Evolution of Language (EVOLANG XII) (pp. 89-91). Toruń, Poland: NCU Press. doi:10.12775/3991-1.019.
  • Dempsey, J., & Brehm, L. (2020). Can propositional biases modulate syntactic repair processes? Insights from preceding comprehension questions. Journal of Cognitive Psychology, 32(5-6), 543-552. doi:10.1080/20445911.2020.1803884.

    Abstract

    There is an ongoing debate about whether discourse biases can constrain sentence
    processing. Previous work has shown comprehension question accuracy to decrease
    for temporarily ambiguous sentences preceded by a context biasing towards an initial
    misinterpretation, suggesting a role of context for modulating comprehension.
    However, this creates limited modulation of reading times at the disambiguating word,
    suggesting initial syntactic processing may be unaffected by context [Christianson &
    Luke, 2011. Context strengthens initial misinterpretations of text. Scientific Studies of
    Reading, 15(2), 136–166]. The current experiments examine whether propositional and
    structural content from preceding comprehension questions can cue readers to expect
    certain structures in temporarily ambiguous garden-path sentences. The central finding
    is that syntactic repair processes remain unaffected while reading times in other
    regions are modulated by preceding questions. This suggests that reading strategies
    can be superficially influenced by preceding comprehension questions without
    impacting the fidelity of ultimate (mis)representations.

    Additional information

    pecp_a_1803884_sm1217.zip
  • Den Os, E., & Boves, L. (2004). Natural multimodal interaction for design applications. In P. Cunningham (Ed.), Adoption and the knowledge economy (pp. 1403-1410). Amsterdam: IOS Press.
  • Den Hoed, J., Sollis, E., Venselaar, H., Estruch, S. B., Derizioti, P., & Fisher, S. E. (2018). Functional characterization of TBR1 variants in neurodevelopmental disorder. Scientific Reports, 8: 14279. doi:10.1038/s41598-018-32053-6.

    Abstract

    Recurrent de novo variants in the TBR1 transcription factor are implicated in the etiology of sporadic autism spectrum disorders (ASD). Disruptions include missense variants located in the T-box DNA-binding domain and previous work has demonstrated that they disrupt TBR1 protein function. Recent screens of thousands of simplex families with sporadic ASD cases uncovered additional T-box variants in TBR1 but their etiological relevance is unclear. We performed detailed functional analyses of de novo missense TBR1 variants found in the T-box of ASD cases, assessing many aspects of protein function, including subcellular localization, transcriptional activity and protein-interactions. Only two of the three tested variants severely disrupted TBR1 protein function, despite in silico predictions that all would be deleterious. Furthermore, we characterized a putative interaction with BCL11A, a transcription factor that was recently implicated in a neurodevelopmental syndrome involving developmental delay and language deficits. Our findings enhance understanding of molecular functions of TBR1, as well as highlighting the importance of functional testing of variants that emerge from next-generation sequencing, to decipher their contributions to neurodevelopmental disorders like ASD.

    Additional information

    Electronic supplementary material
  • Den Hoed, J., & Fisher, S. E. (2020). Genetic pathways involved in human speech disorders. Current Opinion in Genetics & Development, 65, 103-111. doi:10.1016/j.gde.2020.05.012.
  • den Hoed, M., Eijgelsheim, M., Esko, T., Brundel, B. J. J. M., Peal, D. S., Evans, D. M., Nolte, I. M., Segrè, A. V., Holm, H., Handsaker, R. E., Westra, H.-J., Johnson, T., Isaacs, A., Yang, J., Lundby, A., Zhao, J. H., Kim, Y. J., Go, M. J., Almgren, P., Bochud, M. and 249 moreden Hoed, M., Eijgelsheim, M., Esko, T., Brundel, B. J. J. M., Peal, D. S., Evans, D. M., Nolte, I. M., Segrè, A. V., Holm, H., Handsaker, R. E., Westra, H.-J., Johnson, T., Isaacs, A., Yang, J., Lundby, A., Zhao, J. H., Kim, Y. J., Go, M. J., Almgren, P., Bochud, M., Boucher, G., Cornelis, M. C., Gudbjartsson, D., Hadley, D., van der Harst, P., Hayward, C., den Heijer, M., Igl, W., Jackson, A. U., Kutalik, Z., Luan, J., Kemp, J. P., Kristiansson, K., Ladenvall, C., Lorentzon, M., Montasser, M. E., Njajou, O. T., O'Reilly, P. F., Padmanabhan, S., St Pourcain, B., Rankinen, T., Salo, P., Tanaka, T., Timpson, N. J., Vitart, V., Waite, L., Wheeler, W., Zhang, W., Draisma, H. H. M., Feitosa, M. F., Kerr, K. F., Lind, P. A., Mihailov, E., Onland-Moret, N. C., Song, C., Weedon, M. N., Xie, W., Yengo, L., Absher, D., Albert, C. M., Alonso, A., Arking, D. E., de Bakker, P. I. W., Balkau, B., Barlassina, C., Benaglio, P., Bis, J. C., Bouatia-Naji, N., Brage, S., Chanock, S. J., Chines, P. S., Chung, M., Darbar, D., Dina, C., Dörr, M., Elliott, P., Felix, S. B., Fischer, K., Fuchsberger, C., de Geus, E. J. C., Goyette, P., Gudnason, V., Harris, T. B., Hartikainen, A.-L., Havulinna, A. S., Heckbert, S. R., Hicks, A. A., Hofman, A., Holewijn, S., Hoogstra-Berends, F., Hottenga, J.-J., Jensen, M. K., Johansson, A., Junttila, J., Kääb, S., Kanon, B., Ketkar, S., Khaw, K.-T., Knowles, J. W., Kooner, A. S., Kors, J. A., Kumari, M., Milani, L., Laiho, P., Lakatta, E. G., Langenberg, C., Leusink, M., Liu, Y., Luben, R. N., Lunetta, K. L., Lynch, S. N., Markus, M. R. P., Marques-Vidal, P., Mateo Leach, I., McArdle, W. L., McCarroll, S. A., Medland, S. E., Miller, K. A., Montgomery, G. W., Morrison, A. C., Müller-Nurasyid, M., Navarro, P., Nelis, M., O'Connell, J. R., O'Donnell, C. J., Ong, K. K., Newman, A. B., Peters, A., Polasek, O., Pouta, A., Pramstaller, P. P., Psaty, B. M., Rao, D. C., Ring, S. M., Rossin, E. J., Rudan, D., Sanna, S., Scott, R. A., Sehmi, J. S., Sharp, S., Shin, J. T., Singleton, A. B., Smith, A. V., Soranzo, N., Spector, T. D., Stewart, C., Stringham, H. M., Tarasov, K. V., Uitterlinden, A. G., Vandenput, L., Hwang, S.-J., Whitfield, J. B., Wijmenga, C., Wild, S. H., Willemsen, G., Wilson, J. F., Witteman, J. C. M., Wong, A., Wong, Q., Jamshidi, Y., Zitting, P., Boer, J. M. A., Boomsma, D. I., Borecki, I. B., van Duijn, C. M., Ekelund, U., Forouhi, N. G., Froguel, P., Hingorani, A., Ingelsson, E., Kivimaki, M., Kronmal, R. A., Kuh, D., Lind, L., Martin, N. G., Oostra, B. A., Pedersen, N. L., Quertermous, T., Rotter, J. I., van der Schouw, Y. T., Verschuren, W. M. M., Walker, M., Albanes, D., Arnar, D. O., Assimes, T. L., Bandinelli, S., Boehnke, M., de Boer, R. A., Bouchard, C., Caulfield, W. L. M., Chambers, J. C., Curhan, G., Cusi, D., Eriksson, J., Ferrucci, L., van Gilst, W. H., Glorioso, N., de Graaf, J., Groop, L., Gyllensten, U., Hsueh, W.-C., Hu, F. B., Huikuri, H. V., Hunter, D. J., Iribarren, C., Isomaa, B., Jarvelin, M.-R., Jula, A., Kähönen, M., Kiemeney, L. A., van der Klauw, M. M., Kooner, J. S., Kraft, P., Iacoviello, L., Lehtimäki, T., Lokki, M.-L.-L., Mitchell, B. D., Navis, G., Nieminen, M. S., Ohlsson, C., Poulter, N. R., Qi, L., Raitakari, O. T., Rimm, E. B., Rioux, J. D., Rizzi, F., Rudan, I., Salomaa, V., Sever, P. S., Shields, D. C., Shuldiner, A. R., Sinisalo, J., Stanton, A. V., Stolk, R. P., Strachan, D. P., Tardif, J.-C., Thorsteinsdottir, U., Tuomilehto, J., van Veldhuisen, D. J., Virtamo, J., Viikari, J., Vollenweider, P., Waeber, G., Widen, E., Cho, Y. S., Olsen, J. V., Visscher, P. M., Willer, C., Franke, L., Erdmann, J., Thompson, J. R., Pfeufer, A., Sotoodehnia, N., Newton-Cheh, C., Ellinor, P. T., Stricker, B. H. C., Metspalu, A., Perola, M., Beckmann, J. S., Smith, G. D., Stefansson, K., Wareham, N. J., Munroe, P. B., Sibon, O. C. M., Milan, D. J., Snieder, H., Samani, N. J., Loos, R. J. F., Global BPgen Consortium, CARDIoGRAM Consortium, PR GWAS Consortium, QRS GWAS Consortium, QT-IGC Consortium, & CHARGE-AF Consortium (2013). Identification of heart rate-associated loci and their effects on cardiac conduction and rhythm disorders. Nature Genetics, 45(6), 621-631. doi:10.1038/ng.2610.

    Abstract

    Elevated resting heart rate is associated with greater risk of cardiovascular disease and mortality. In a 2-stage meta-analysis of genome-wide association studies in up to 181,171 individuals, we identified 14 new loci associated with heart rate and confirmed associations with all 7 previously established loci. Experimental downregulation of gene expression in Drosophila melanogaster and Danio rerio identified 20 genes at 11 loci that are relevant for heart rate regulation and highlight a role for genes involved in signal transmission, embryonic cardiac development and the pathophysiology of dilated cardiomyopathy, congenital heart failure and/or sudden cardiac death. In addition, genetic susceptibility to increased heart rate is associated with altered cardiac conduction and reduced risk of sick sinus syndrome, and both heart rate-increasing and heart rate-decreasing variants associate with risk of atrial fibrillation. Our findings provide fresh insights into the mechanisms regulating heart rate and identify new therapeutic targets.
  • Deriziotis, P., & Fisher, S. E. (2013). Neurogenomics of speech and language disorders: The road ahead. Genome Biology, 14: 204. doi:10.1186/gb-2013-14-4-204.

    Abstract

    Next-generation sequencing is set to transform the discovery of genes underlying neurodevelopmental disorders, and so off er important insights into the biological bases of spoken language. Success will depend on functional assessments in neuronal cell lines, animal models and humans themselves.
  • Devanna, P., Van de Vorst, M., Pfundt, R., Gilissen, C., & Vernes, S. C. (2018). Genome-wide investigation of an ID cohort reveals de novo 3′UTR variants affecting gene expression. Human Genetics, 137(9), 717-721. doi:10.1007/s00439-018-1925-9.

    Abstract

    Intellectual disability (ID) is a severe neurodevelopmental disorder with genetically heterogeneous causes. Large-scale sequencing has led to the identification of many gene-disrupting mutations; however, a substantial proportion of cases lack a molecular diagnosis. As such, there remains much to uncover for a complete understanding of the genetic underpinnings of ID. Genetic variants present in non-coding regions of the genome have been highlighted as potential contributors to neurodevelopmental disorders given their role in regulating gene expression. Nevertheless the functional characterization of non-coding variants remains challenging. We describe the identification and characterization of de novo non-coding variation in 3′UTR regulatory regions within an ID cohort of 50 patients. This cohort was previously screened for structural and coding pathogenic variants via CNV, whole exome and whole genome analysis. We identified 44 high-confidence single nucleotide non-coding variants within the 3′UTR regions of these 50 genomes. Four of these variants were located within predicted miRNA binding sites and were thus hypothesised to have regulatory consequences. Functional testing showed that two of the variants interfered with miRNA-mediated regulation of their target genes, AMD1 and FAIM. Both these variants were found in the same individual and their functional consequences may point to a potential role for such variants in intellectual disability.

    Additional information

    439_2018_1925_MOESM1_ESM.docx
  • Devanna, P., Chen, X. S., Ho, J., Gajewski, D., Smith, S. D., Gialluisi, A., Francks, C., Fisher, S. E., Newbury, D. F., & Vernes, S. C. (2018). Next-gen sequencing identifies non-coding variation disrupting miRNA binding sites in neurological disorders. Molecular Psychiatry, 23(5), 1375-1384. doi:10.1038/mp.2017.30.

    Abstract

    Understanding the genetic factors underlying neurodevelopmental and neuropsychiatric disorders is a major challenge given their prevalence and potential severity for quality of life. While large-scale genomic screens have made major advances in this area, for many disorders the genetic underpinnings are complex and poorly understood. To date the field has focused predominantly on protein coding variation, but given the importance of tightly controlled gene expression for normal brain development and disorder, variation that affects non-coding regulatory regions of the genome is likely to play an important role in these phenotypes. Herein we show the importance of 3 prime untranslated region (3'UTR) non-coding regulatory variants across neurodevelopmental and neuropsychiatric disorders. We devised a pipeline for identifying and functionally validating putatively pathogenic variants from next generation sequencing (NGS) data. We applied this pipeline to a cohort of children with severe specific language impairment (SLI) and identified a functional, SLI-associated variant affecting gene regulation in cells and post-mortem human brain. This variant and the affected gene (ARHGEF39) represent new putative risk factors for SLI. Furthermore, we identified 3′UTR regulatory variants across autism, schizophrenia and bipolar disorder NGS cohorts demonstrating their impact on neurodevelopmental and neuropsychiatric disorders. Our findings show the importance of investigating non-coding regulatory variants when determining risk factors contributing to neurodevelopmental and neuropsychiatric disorders. In the future, integration of such regulatory variation with protein coding changes will be essential for uncovering the genetic causes of complex neurological disorders and the fundamental mechanisms underlying health and disease

    Additional information

    mp201730x1.docx

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