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1
De Novo Pathogenic Variants in N-cadherin Cause a Syndromic Neurodevelopmental Disorder with Corpus Callosum, Axon, Cardiac, Ocular, and Genital Defects
In: ISSN: 0002-9297 ; EISSN: 1537-6605 ; American Journal of Human Genetics ; https://hal.umontpellier.fr/hal-02556784 ; American Journal of Human Genetics, Elsevier (Cell Press), 2019, 105 (4), pp.854-868. ⟨10.1016/j.ajhg.2019.09.005⟩ (2019)
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2
Autism and developmental disability caused by KCNQ3 gain‐of‐function variants
In: ISSN: 0364-5134 ; EISSN: 1531-8249 ; Annals of Neurology ; https://hal.archives-ouvertes.fr/hal-02151807 ; Annals of Neurology, Wiley, 2019, ⟨10.1002/ana.25522⟩ (2019)
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3
Approaching intonational distance and change
Sullivan, Jennifer Niamh. - : The University of Edinburgh, 2011
Abstract: The main aim of this thesis is to begin to extend phonetic distance measurements to the domain of intonation. Existing studies of segmental phonetic distance have strong associations with historical linguistic questions. I begin with this context and demonstrate problems with the use of feature systems in these segmental measures. Then I attempt to draw strands from the disparate fields of quantitative historical linguistics and intonation together. The intonation of Belfast and Glasgow English provides a central case study for this. Previous work suggests that both varieties display nuclear rises on statements, yet they have never been formally compared. This thesis presents two main hypotheses on the source of these statement rises: the Alignment hypothesis and the Transfer hypothesis. The Alignment hypothesis posits that statement rises were originally more typical statement falls but have changed into rises over time through gradual phonetic change to the location of the pitch peak. The Transfer hypothesis considers that statement rises have come about through pragmatic transfer of rises onto a statement context, either from question rises or continuation rises. I evaluate these hypotheses using the primary parameters of alignment and scaling as phonetic distance measurements. The main data set consists of data from 3 Belfast English and 3 Glasgow English speakers in a Sentence reading task and Map task. The results crucially indicate that the origin of the statement rises in Belfast and Glasgow English respectively may be different. The Glasgow statement nuclear tones show support for the Alignment hypothesis, while the Belfast nuclear tones fit best with the Transfer hypothesis. The fundamental differences between Glasgow and Belfast are the earlier alignment of the peak (H) in Glasgow and the presence of a final low (L) tonal target in Glasgow and a final high (H) target in Belfast. The scaling of the final H in Belfast statements suggests that the transfer may be from continuation rather than from question rises. I then present a proposal for an overall measure of intonational distance, showing problems with parameter weighting, comparing like with like, and distinguishing between chance resemblance and genuine historical connections. The thesis concludes with an assessment of the benefits that intonational analysis could bring to improving segmental phonetic distance measures.
Keyword: edit distance; English varieties; intonation; language change; phonetic distance
URL: http://hdl.handle.net/1842/5619
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4
Language Matters 1: Linguistics
McMahon, April; Barras, Will; Clark, Lynn. - : Bloomsbury, 2011
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5
Phonetic comparison, varieties, and networks : Swadesh's influence lives on here too
In: Diachronica. - Amsterdam [u.a.] : Benjamins 27 (2010) 2, 325-340
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6
Developing Knowledge of Polysemous Vocabulary
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7
Developing Knowledge of Polysemous Vocabulary
Sullivan, Jennifer. - : University of Waterloo, 2006
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