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Neurology|December 14, 2018
SYNGAP1 encephalopathy: A distinctive generalized developmental and epileptic encephalopathyDanique R M Vlaskamp, Benjamin J Shaw, Rosemary Burgess, et al.
European Journal of Human Genetics : EJHG|December 22, 2016
The diagnostic yield of whole-exome sequencing targeting a gene panel for hearing impairment in The NetherlandsCelia Zazo Seco, Mieke Wesdorp, Ilse Feenstra, et al.
Nature Reviews. Endocrinology|January 30, 2018
Expert consensus document: Clinical and molecular diagnosis, screening and management of Beckwith-Wiedemann syndrome: an international consensus statementFrédéric Brioude, Jennifer M Kalish, Alessandro Mussa, et al.
Human Mutation|June 18, 2019
Deleterious de novo variants of X-linked ZC4H2 in females cause a variable phenotype with neurogenic arthrogryposis multiplex congenitaSuzanna G M Frints, Friederike Hennig, Roberto Colombo, et al.
American Journal of Human Genetics|April 24, 2021
Missense variants in DPYSL5 cause a neurodevelopmental disorder with corpus callosum agenesis and cerebellar abnormalitiesMédéric Jeanne, Hélène Demory, Aubin Moutal, et al.
American Journal of Respiratory and Critical Care Medicine|April 16, 2024
Recessively Inherited Deficiency of Secreted WFDC2 (HE4) Causes Nasal Polyposis and BronchiectasisGerard W Dougherty, Lawrence E Ostrowski, Tabea Nöthe-Menchen, et al.
Translational Psychiatry|October 1, 2022
The phenotypic spectrum and genotype-phenotype correlations in 106 patients with variants in major autism gene CHD8Alexander J M Dingemans, Kim M G Truijen, Sam van de Ven, et al.
HGG Advances|November 6, 2024
CUL3-related neurodevelopmental disorder: Clinical phenotype of 20 new individuals and identification of a potential phenotype-associated episignatureLiselot van der Laan, Ananília Silva, Lotte Kleinendorst, et al.
European Journal of Medical Genetics|March 21, 2015
Phenotype and genotype in 103 patients with tricho-rhino-phalangeal syndromeSaskia M Maas, Adam C Shaw, Hennie Bikker, et al.
Human Mutation|June 14, 2018
Further delineation of Malan syndromeManuela Priolo, Denny Schanze, Katrin Tatton-Brown, et al.
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