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Skraban-Deardorff syndrome: six new cases of WDR26-related disease and expansion of the clinical phenotype
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In: ISSN: 0009-9163 ; EISSN: 1399-0004 ; Clinical Genetics ; https://hal.archives-ouvertes.fr/hal-03134882 ; Clinical Genetics, Wiley, 2021, 99 (5), pp.732-739. ⟨10.1111/cge.13933⟩ (2021)
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Discriminant value of repetitive behaviors in families with autism spectrum disorder and obsessional compulsive disorder probands
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In: ISSN: 1939-3806 ; EISSN: 1939-3806 ; Autism Research ; https://hal-pasteur.archives-ouvertes.fr/pasteur-03325346 ; Autism Research, International Society for Autism Research, Wiley Periodicals, Inc., 2021, pp.Online Version of Record before inclusion in an issue. ⟨10.1002/aur.2570⟩ (2021)
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BioSGAN: Protein-phenotype Co-mention classification using semi-supervised generative adversarial networks
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In: UNF Faculty Publications (2021)
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Transforming the study of organisms: Phenomic data models and knowledge bases.
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In: PLoS computational biology, vol 16, iss 11 (2020)
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Is periodontal phenotype modification therapy beneficial for patients receiving orthodontic treatment? An American Academy of Periodontology best evidence review
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Cross-modal emotion recognition and autism-like traits in typically developing children
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Habilidades comunicativas y lingüísticas del síndrome de Wolf-Hirschhorn: estudio de caso con fenotipo atenuado. Un estudio de caso
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Novel MED12 variant in a multiplex Fragile X syndrome family: dual molecular etiology of two X-linked intellectual disabilities with autism in the same family
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In: ISSN: 0301-4851 ; EISSN: 1573-4978 ; Molecular Biology Reports ; https://hal-riip.archives-ouvertes.fr/pasteur-03565723 ; Molecular Biology Reports, Springer Verlag, 2019, 46 (4), pp.4185 - 4193. ⟨10.1007/s11033-019-04869-6⟩ (2019)
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Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies.
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In: Genetics in medicine : official journal of the American College of Medical Genetics, vol 21, iss 8 (2019)
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Crianças com Dislexia e crianças com problemas de leitura (poor reading): Análise Diferencial ; Children with Dyslexia and children with reading problems (poor reading): diferential analysis
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The CAPOS mutation in ATP1A3 alters Na/K-ATPase function and results in auditory neuropathy which has implications for management
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In: ISSN: 0340-6717 ; EISSN: 1432-1203 ; Human Genetics ; https://hal.archives-ouvertes.fr/hal-02349575 ; Human Genetics, Springer Verlag, 2018, 137 (2), pp.111--127. ⟨10.1007/s00439-017-1862-z⟩ (2018)
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Developmental social communication deficits in the Shank3 rat model of phelan-mcdermid syndrome and autism spectrum disorder.
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In: Autism research : official journal of the International Society for Autism Research, vol 11, iss 4 (2018)
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Enrichment of genetic markers of recent human evolution in educational and cognitive traits.
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In: Scientific reports, vol 8, iss 1 (2018)
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Curvilinear Association Between Language Disfluency and FMR1 CGG Repeat Size Across the Normal, Intermediate, and Premutation Range.
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In: Frontiers in genetics, vol 9, iss AUG (2018)
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Curvilinear Association Between Language Disfluency and FMR1 CGG Repeat Size Across the Normal, Intermediate, and Premutation Range.
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In: Klusek, Jessica; Porter, Anna; Abbeduto, Leonard; Adayev, Tatyana; Tassone, Flora; Mailick, Marsha R; et al.(2018). Curvilinear Association Between Language Disfluency and FMR1 CGG Repeat Size Across the Normal, Intermediate, and Premutation Range. Frontiers in genetics, 9(AUG), 344. doi:10.3389/fgene.2018.00344. UC Davis: Retrieved from: http://www.escholarship.org/uc/item/0dn6p4z8 (2018)
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The Influence of Language Phenotype on Predictors of Emergent Literacy in Children with an Autism Spectrum Disorder
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Cluster analysis with MOODS‐SR illustrates a potential bipolar disorder risk phenotype in young adults with remitted major depressive disorder
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Effects of prosodic and semantic cues on facial emotion recognition in relation to autism-like traits
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Global genetic differentiation of complex traits shaped by natural selection in humans.
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In: Nature communications, vol. 9, no. 1, pp. 1865 (2018)
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