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Journal of Medical Genetics|January 15, 2020
The clinical relevance of intragenic <i>NRXN1</i> deletionsNele Cosemans, Laura Vandenhove, Annick Vogels, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 2, 2016
Accuracy and clinical value of maternal incidental findings during noninvasive prenatal testing for fetal aneuploidiesNathalie Brison, Kris Van Den Bogaert, Luc Dehaspe, et al.
European Journal of Human Genetics : EJHG|July 27, 2022
Rare autosomal trisomies detected by non-invasive prenatal testing: an overview of current knowledgeLore Lannoo, Khaila van Straaten, Jeroen Breckpot, et al.
The British Journal of Psychiatry : the Journal of Mental Science|April 26, 2018
Neurodevelopmental risk copy number variants in adults with intellectual disabilities and comorbid psychiatric disordersJohan H Thygesen, Kate Wolfe, Andrew McQuillin, et al.
American Journal of Human Genetics|May 13, 2003
Definition of a critical region on chromosome 18 for congenital aural atresia by arrayCGHJoris A Veltman, Yvonne Jonkers, Inge Nuijten, et al.
Journal of Oncology|July 14, 2020
Cancer Surveillance in Healthy Carriers of Germline Pathogenic Variants in <i>BRCA1/2</i>: A Review of Secondary Prevention GuidelinesBoudewijn Dullens, Robin de Putter, Matteo Lambertini, et al.
European Journal of Medical Genetics|August 14, 2016
Copy number variation analysis in adults with catatonia confirms haploinsufficiency of SHANK3 as a predisposing factorJeroen Breckpot, Marieke Vercruyssen, Eddy Weyts, et al.
American Journal of Human Genetics|July 14, 2015
THOC2 Mutations Implicate mRNA-Export Pathway in X-Linked Intellectual DisabilityRaman Kumar, Mark A Corbett, Bregje W M van Bon, et al.
Science (New York, N.Y.)|May 19, 2022
Human OTULIN haploinsufficiency impairs cell-intrinsic immunity to staphylococcal α-toxinAndrás N Spaan, Anna-Lena Neehus, Emmanuel Laplantine, et al.
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