Genetic studies in intellectual disability and related disorders, Nat Rev Genet, vol.17, pp.9-18, 2016. ,
Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies, Am J Hum Genet, vol.86, pp.749-764, 2010. ,
Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing, J Med Genet, vol.51, pp.724-736, 2014. ,
Clinical whole-exome sequencing for the diagnosis of mendelian disorders, N Engl J Med, vol.369, pp.1502-1511, 2013. ,
Molecular findings among patients referred for clinical whole-exome sequencing, JAMA, vol.312, pp.1870-1879, 2014. ,
Diagnostic odyssey in severe neurodevelopmental disorders: Towards clinical whole-exome sequencing as a first-line diagnostic test, Clin Genet, 2016. ,
, Deciphering Developmental Disorders Study. Large-scale discovery of novel genetic causes of developmental disorders, Nature, vol.519, pp.223-228, 2015.
Large Gene Panel Sequencing in Clinical DiagnosticsResults from 501 Consecutive Cases, Clin Genet, 2017. ,
Clinical Diagnosis of Mendelian Disorders Using a Comprehensive Gene-Targeted Panel Test for Next-Generation Sequencing, Yonago Acta Med, vol.59, pp.118-125, 2016. ,
Clinical and molecular findings in 39 patients with KBG syndrome caused by deletion or mutation of ANKRD11, Am J Med Genet A, vol.170, pp.2847-2859, 2016. ,
URL : https://hal.archives-ouvertes.fr/hal-01469066
DYRK1A mutations in two unrelated patients, Eur J Med Genet, vol.58, pp.168-174, 2015. ,
GRIN2B encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects, J Med Genet, 2017. ,
Genetic and phenotypic dissection of 1q43q44 microdeletion syndrome and neurodevelopmental phenotypes associated with mutations in ZBTB18 and HNRNPU, Hum Genet, vol.136, pp.463-479, 2017. ,
URL : https://hal.archives-ouvertes.fr/hal-01502135
Expanding the Phenotype Associated with NAA10-Related N-Terminal Acetylation Deficiency, Hum Mutat, vol.37, pp.755-764, 2016. ,
URL : https://hal.archives-ouvertes.fr/hal-01314294
Disruption of POGZ Is Associated with Intellectual Disability and Autism Spectrum Disorders, Accepted Article 15, vol.98, pp.541-552, 2016. ,
URL : https://hal.archives-ouvertes.fr/hal-01405534
Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders, Brain J Neurol, 2017. ,
URL : https://hal.archives-ouvertes.fr/hal-01668653
Molecular Diagnostic Yield of Chromosomal Microarray Analysis and Whole-Exome Sequencing in Children With Autism Spectrum Disorder, JAMA, vol.314, pp.895-903, 2015. ,
Targeted Next-Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability, Hum Mutat, vol.36, pp.1197-1204, 2015. ,
URL : https://hal.archives-ouvertes.fr/hal-01664310
Enhanced utility of family-centered diagnostic exome sequencing with inheritance model-based analysis: results from 500 unselected families with undiagnosed genetic conditions, Genet Med Off J Am Coll Med Genet, vol.17, pp.578-586, 2015. ,
ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions, Genet Med Off J Am Coll Med Genet, vol.10, pp.294-300, 2007. ,
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology, Genet Med Off J Am Coll Med Genet, vol.17, pp.405-424, 2015. ,
Clinical Interpretation of Genetic Variants by the 2015 ACMG-AMP Guidelines, Am J Hum Genet, vol.100, pp.267-280, 2017. ,
Next-generation sequencing demands next-generation phenotyping, Hum Mutat, vol.33, pp.884-886, 2012. ,
STXBP1 encephalopathy: A neurodevelopmental disorder including epilepsy, Neurology, vol.86, pp.954-962, 2016. ,
STXBP1-related encephalopathy presenting as infantile spasms and generelized tremor in three patients, Epilepsia, vol.52, pp.1820-1827, 2011. ,
Epileptic and non-epileptic features in patients with early onset epileptic encephalopathy and STXBP1 mutations, Epilepsia, vol.52, pp.1828-1834, 2011. ,
Mutations in UNC80, Encoding Part of the UNC79-UNC80-NALCN Channel Complex, Cause AutosomalRecessive Severe Infantile Encephalopathy, Am J Hum Genet, vol.98, pp.210-215, 2016. ,
De novo PHIP-predicted deleterious variants are associated with developmental delay, intellectual disability, obesity, and dysmorphic features, Cold Spring Harb Mol Case Stud, vol.2, p.1172, 2016. ,