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Elife|June 19, 2024
SOD1 is a synthetic-lethal target in PPM1D-mutant leukemia cellsLinda Zhang, Joanne I Hsu, Etienne D Braekeleer, et al.American Journal of Human Genetics|February 12, 2013
Mutations in MED12 cause X-linked Ohdo syndromeAnneke T Vulto-van Silfhout, Bert B A de Vries, Bregje W M van Bon, et al.Nature Medicine|May 14, 2024
Prevalence of comorbidities in individuals with neurodevelopmental disorders from the aggregated phenomics data of 51,227 pediatric individualsAlexander J M Dingemans, Sandra Jansen, Jeroen van Reeuwijk, et al.American Journal of Human Genetics|August 25, 2015
Heterozygous Loss-of-Function Mutations in DLL4 Cause Adams-Oliver SyndromeJosephina A N Meester, Laura Southgate, Anna-Barbara Stittrich, et al.Human Mutation|June 27, 2017
Heterozygous variants in ACTL6A, encoding a component of the BAF complex, are associated with intellectual disabilityRonit Marom, Mahim Jain, Lindsay C Burrage, et al.Nature Genetics|June 28, 2011
De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndromeAlexander Hoischen, Bregje W M van Bon, Benjamín Rodríguez-Santiago, et al.Pediatric Radiology|February 27, 2023
Imaging in rhabdomyosarcoma: a patient journeyIsabelle S A de Vries, Roelof van Ewijk, Laura M E Adriaansen, et al.Genes|August 27, 2021
A Case Series of Familial ARID1B Variants Illustrating Variable Expression and Suggestions to Update the ACMG CriteriaPleuntje J van der Sluijs, Mariëlle Alders, Alexander J M Dingemans, et al.Journal of Inherited Metabolic Disease|February 13, 2019
Clinical, neuroradiological, and biochemical features of SLC35A2-CDG patientsMari-Anne Vals, Angel Ashikov, Pilvi Ilves, et al.American Journal of Human Genetics|January 28, 2014
NR2F1 mutations cause optic atrophy with intellectual disabilityDaniëlle G M Bosch, F Nienke Boonstra, Claudia Gonzaga-Jauregui, et al.Pageof 88