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Human Mutation|December 2, 2017
Inactivation of AMMECR1 is associated with growth, bone, and heart alterationsMariana Moysés-Oliveira, Giuliana Giannuzzi, Richard J Fish, et al.Human Genetics|March 3, 2017
Haploinsufficiency of the E3 ubiquitin-protein ligase gene TRIP12 causes intellectual disability with or without autism spectrum disorders, speech delay, and dysmorphic featuresJing Zhang, Tomasz Gambin, Bo Yuan, et al.Journal of Medical Genetics|July 24, 2017
FOXP1-related intellectual disability syndrome: a recognisable entityIlse Meerschaut, Daniel Rochefort, Nicole Revençu, et al.Journal of Medical Genetics|October 6, 2018
16p13.11 microduplication in 45 new patients: refined clinical significance and genotype-phenotype correlationsLaïla Allach El Khattabi, Solveig Heide, Jean-Hubert Caberg, et al.American Journal of Medical Genetics. Part A|November 17, 2023
Cat eye syndrome: Clinical, cytogenetics and familial findings in a large cohort of 43 patients highlighting the importance of congenital heart disease and inherited casesGuillaume Jedraszak, Florence Jobic, Aline Receveur, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 8, 2018
Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variantsLucilla Pizzo, Matthew Jensen, Andrew Polyak, et al.American Journal of Human Genetics|June 3, 2017
YY1 Haploinsufficiency Causes an Intellectual Disability Syndrome Featuring Transcriptional and Chromatin DysfunctionMichele Gabriele, Anneke T Vulto-van Silfhout, Pierre-Luc Germain, et al.American Journal of Medical Genetics. Part A|October 1, 2015
Large national series of patients with Xq28 duplication involving MECP2: Delineation of brain MRI abnormalities in 30 affected patientsSalima El Chehadeh, Laurence Faivre, Anne-Laure Mosca-Boidron, et al.Human Genetics|March 12, 2017
Genetic and phenotypic dissection of 1q43q44 microdeletion syndrome and neurodevelopmental phenotypes associated with mutations in ZBTB18 and HNRNPUChristel Depienne, Caroline Nava, Boris Keren, et al.JAMA Psychiatry|December 3, 2015
Defining the Effect of the 16p11.2 Duplication on Cognition, Behavior, and Medical ComorbiditiesDebra D'Angelo, Sébastien Lebon, Qixuan Chen, et al.Pageof 13