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American Journal of Medical Genetics. Part A|June 9, 2012
Molecular characterization of 1q44 microdeletion in 11 patients reveals three candidate genes for intellectual disability and seizuresGaelle Thierry, Claire Bénéteau, Olivier Pichon, et al.
American Journal of Human Genetics|April 19, 2016
De Novo Mutations of RERE Cause a Genetic Syndrome with Features that Overlap Those Associated with Proximal 1p36 DeletionsBrieana Fregeau, Bum Jun Kim, Andrés Hernández-García, et al.
American Journal of Human Genetics|February 29, 2020
De Novo Variants in SPOP Cause Two Clinically Distinct Neurodevelopmental DisordersMaria J Nabais Sá, Geniver El Tekle, Arjan P M de Brouwer, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 29, 2019
De novo CLTC variants are associated with a variable phenotype from mild to severe intellectual disability, microcephaly, hypoplasia of the corpus callosum, and epilepsyMaria J Nabais Sá, Hanka Venselaar, Laurens Wiel, et al.
European Journal of Human Genetics : EJHG|October 8, 2009
The 2q23.1 microdeletion syndrome: clinical and behavioural phenotypeBregje W M van Bon, David A Koolen, Louise Brueton, et al.
Nature Genetics|May 1, 2012
Mutations in the chromatin modifier gene KANSL1 cause the 17q21.31 microdeletion syndromeDavid A Koolen, Jamie M Kramer, Kornelia Neveling, et al.
European Journal of Human Genetics : EJHG|September 16, 2022
The performance of genome sequencing as a first-tier test for neurodevelopmental disordersBart P G H van der Sanden, Gaby Schobers, Jordi Corominas Galbany, et al.
European Journal of Human Genetics : EJHG|March 31, 2025
DDX3X-related neurodevelopmental disorder in males - presenting a new cohort of 19 males and a literature reviewMilou G P Kennis, Dmitrijs Rots, Arjan Bouman, et al.
American Journal of Medical Genetics. Part A|February 29, 2024
De novo variants predicting haploinsufficiency for DIP2C are associated with expressive speech delayThoa Ha, Angela Morgan, Meghan N Bartos, et al.
European Journal of Medical Genetics|March 3, 2009
Fourteen new cases contribute to the characterization of the 7q11.23 microduplication syndromeNathalie Van der Aa, Liesbeth Rooms, Geert Vandeweyer, et al.
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