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Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 15, 2021
Phenotype based prediction of exome sequencing outcome using machine learning for neurodevelopmental disordersAlexander J M Dingemans, Max Hinne, Sandra Jansen, et al.Autophagy|July 21, 2021
Imbalanced autophagy causes synaptic deficits in a human model for neurodevelopmental disordersKatrin Linda, Elly I Lewerissa, Anouk H A Verboven, et al.European Journal of Human Genetics : EJHG|December 27, 2007
Identification of non-recurrent submicroscopic genome imbalances: the advantage of genome-wide microarrays over targeted approachesDavid A Koolen, Erik A Sistermans, Willy Nilessen, et al.Clinical Genetics|December 4, 2023
CAMTA1-related disorder: Phenotypic and molecular characterization of 26 new individuals and literature reviewHussam Al-Kateb, P Y Billie Au, Siren Berland, et al.American Journal of Medical Genetics. Part A|January 13, 2021
Human disease genes website series: An international, open and dynamic library for up-to-date clinical informationAlexander J M Dingemans, Diante E Stremmelaar, Lisenka E L M Vissers, et al.Epilepsia|February 1, 2017
Neonatal nonepileptic myoclonus is a prominent clinical feature of KCNQ2 gain-of-function variants R201C and R201HSarah B Mulkey, Bruria Ben-Zeev, Joost Nicolai, et al.European Journal of Human Genetics : EJHG|January 28, 2024
A new blood DNA methylation signature for Koolen-de Vries syndrome: Classification of missense KANSL1 variants and comparison to fibroblast cellsZain Awamleh, Sanaa Choufani, Wendy Wu, et al.Plos Genetics|July 14, 2017
Mouse models of 17q21.31 microdeletion and microduplication syndromes highlight the importance of Kansl1 for cognitionThomas Arbogast, Giovanni Iacono, Claire Chevalier, et al.Journal of Medical Genetics|November 3, 2022
In-depth characterisation of a cohort of individuals with missense and loss-of-function variants disrupting <i>FOXP2</i>Lottie D Morison, Elisabeth Meffert, Miriam Stampfer, et al.The New England Journal of Medicine|October 5, 2012
Diagnostic exome sequencing in persons with severe intellectual disabilityJoep de Ligt, Marjolein H Willemsen, Bregje W M van Bon, et al.Pageof 9