Sanlaville, Damien

Meta-analysis of SHANK Mutations in Autism Spectrum Disorders: A Gradient of Severity in Cognitive Impairments

Leblond, C. S., Nava, C., Polge, A., Gauthier, J., Huguet, G., Lumbroso, S., Giuliano, F., Stordeur, C., Depienne, C., Mouzat, K., et al. (2014) · PLoS Genetics

Genetics and Neurodevelopmental DisordersAutism Spectrum Disorder Research

Cited by 630

A new highly penetrant form of obesity due to deletions on chromosome 16p11.2

Walters, R. G., Jacquemont, S., Valsesia, A., de Smith, A. J., Martinet, D., Andersson, J., Falchi, M., Chen, F., Andrieux, J., Lobbens, S., et al. (2010) · Nature

Genomic variations and chromosomal abnormalitiesGenetic Associations and Epidemiology

Cited by 543

Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus

Jacquemont, S., Reymond, A., Zufferey, F., Harewood, L., Walters, R. G., Kutalik, Z., Martinet, D., Shen, Y., Valsesia, A., Beckmann, N. D., et al. (2011) · Nature

Genomic variations and chromosomal abnormalitiesGenome Rearrangement Algorithms

Cited by 462

CHARGE syndrome: an update

Sanlaville, D., & Verloes, A. (2007) · European Journal of Human Genetics

Congenital Ear and Nasal AnomaliesCraniofacial Disorders and Treatments

Cited by 332

Array-based comparative genomic hybridisation identifies high frequency of cryptic chromosomal rearrangements in patients with syndromic autism spectrum disorders

Jacquemont, M.-L., Sanlaville, D., Redon, R., Raoul, O., Cormier-Daire, V, Lyonnet, S., Amiel, J., Le Merrer, M., Heron, D., de Blois, M.-C., et al. (2006) · Journal of Medical Genetics

Genomic variations and chromosomal abnormalitiesAutism Spectrum Disorder Research

Cited by 305

De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability

Küry, S., van Woerden, G. M., Besnard, T., Proietti Onori, M., Latypova, X., Towne, M. C., Cho, M. T., Prescott, T. E., Ploeg, M. A., Sanders, S., et al. (2017) · The American Journal of Human Genetics

Genetics and Neurodevelopmental DisordersGenomics and Rare Diseases

Cited by 185

Early-onset autoimmunity associated with SOCS1 haploinsufficiency

Hadjadj, J., Castro, C. N., Tusseau, M., Stolzenberg, M.-C., Mazerolles, F., Aladjidi, N., Armstrong, M., Ashrafian, H., Cutcutache, I., Ebetsberger-Dachs, G., et al. (2020) · Nature Communications

Cytokine Signaling Pathways and InteractionsImmunodeficiency and Autoimmune Disorders

Cited by 156

Delineation of 15q13.3 microdeletions.

Masurel‐Paulet, A., Andrieux, J., Callier, P., Cuisset, J., Le Caignec, C., Holder, M., Thauvin‐Robinet, C., Doray, B., Flori, E., Alex‐Cordier, M., et al. (2010) · Clinical Genetics

Genomic variations and chromosomal abnormalitiesGenetics and Neurodevelopmental Disorders

Cited by 145

Chromosomal contacts connect loci associated with autism, BMI and head circumference phenotypes

2p15 Consortium, Loviglio, M. N., 16p11.2 Consortium, Leleu, M., Männik, K., Passeggeri, M., Giannuzzi, G., van der Werf, I., Waszak, S. M., Zazhytska, M., et al. (2017) · Molecular Psychiatry

Genomic variations and chromosomal abnormalitiesGenome Rearrangement Algorithms

Cited by 118

Molecular and clinical characterization of 25 individuals with exonic deletions of NRXN1 and comprehensive review of the literature

Béna, F., Bruno, D. L., Eriksson, M., van Ravenswaaij‐Arts, C., Stark, Z., Dijkhuizen, T., Gerkes, E., Gimelli, S., Ganesamoorthy, D., Thuresson, A. C., et al. (2013) · American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

Genetics and Neurodevelopmental DisordersGenomic variations and chromosomal abnormalities

Cited by 109

Quantifying the effects of 16p11.2 copy number variants on brain structure: a multisite genetic-first study

Martin-Brevet, S., Rodríguez-Herreros, B., Nielsen, J. A., Moreau, C., Modenato, C., Maillard, A. M., Pain, A., Richetin, S., Jønch, A. E., Qureshi, A. Y., et al. (2018) · Biological Psychiatry

Genomic variations and chromosomal abnormalitiesGenetics and Neurodevelopmental Disorders

Cited by 75

Estimating the effect size of the 15Q11.2 BP1–BP2 deletion and its contribution to neurodevelopmental symptoms: recommendations for practice

Jønch, A. E., Douard, E., Moreau, C., Van Dijck, A., Passeggeri, M., Kooy, F., Puechberty, J., Campbell, C., Sanlaville, D., Lefroy, H., et al. (2019) · Journal of Medical Genetics

Genomic variations and chromosomal abnormalitiesGenetics and Neurodevelopmental Disorders

Cited by 75

A randomized, double-blind, placebo-controlled phase II trial to explore the effects of a GABAA-α5 NAM (basmisanil) on intellectual disability associated with Down syndrome

Goeldner, C., Kishnani, P. S., Skotko, B. G., Casero, J. L., Hipp, J. F., Derks, M., Hernandez, M.-C., Khwaja, O., Lennon-Chrimes, S., Noeldeke, J., et al. (2022) · Journal of Neurodevelopmental Disorders

Down syndrome and intellectual disability researchAlzheimer's disease research and treatments

Cited by 48

A new syndrome of intellectual disability with dysmorphism due to TBL1XR1 deletion

Pons, L., Cordier, M. P., Labalme, A., Till, M., Louvrier, C., Schluth‐Bolard, C., Lesca, G., Edery, P., & Sanlaville, D. (2015) · American Journal of Medical Genetics Part A

Genomic variations and chromosomal abnormalitiesGenetics and Neurodevelopmental Disorders

Cited by 44

Diagnostic utility of DNA methylation analysis in genetically unsolved pediatric epilepsies and CHD2 episignature refinement

LaFlamme, C. W., Rastin, C., Sengupta, S., Pennington, H. E., Russ-Hall, S. J., Schneider, A. L., Bonkowski, E. S., Almanza Fuerte, E. P., Allan, T. J., Zalusky, M. P.-G., et al. (2024) · Nature Communications

Epilepsy research and treatmentEpigenetics and DNA Methylation

Cited by 31

Anatomical and functional abnormalities on MRI in kabuki syndrome

Boisgontier, J., Tacchella, J. M., Lemaître, H., Lehman, N., Saitovitch, A., Gatinois, V., Boursier, G., Sanchez, E., Rechtman, E., Fillon, L., et al. (2019) · NeuroImage: Clinical

Genetics and Neurodevelopmental DisordersFetal and Pediatric Neurological Disorders

Cited by 29

Chromatin remodeling dysfunction extends the etiological spectrum of schizophrenia: a case report

Poisson, A., Chatron, N., Labalme, A., Fourneret, P., Ville, D., Mathieu, M. L., Sanlaville, D., Demily, C., & Lesca, G. (2020) · BMC Medical Genetics

Schizophrenia research and treatmentGenomic variations and chromosomal abnormalities

Cited by 16

Developmental trajectories of neuroanatomical alterations associated with the 16p11.2 copy number variations

Cárdenas-de-la-Parra, A., Martin-Brevet, S., Moreau, C., Rodriguez-Herreros, B., Fonov, V. S., Maillard, A. M., Zürcher, N. R., Addor, M.-C., Andrieux, J., Arveiler, B., et al. (2019) · NeuroImage

Genomic variations and chromosomal abnormalitiesGenetics and Neurodevelopmental Disorders

Cited by 14