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European Journal of Human Genetics : EJHG|January 21, 2011
The phenotype of recurrent 10q22q23 deletions and duplicationsBregje W M van Bon, Jorune Balciuniene, Gary Fruhman, et al.Journal of Medical Genetics|January 8, 2008
Clinical and molecular characteristics of 1qter microdeletion syndrome: delineating a critical region for corpus callosum agenesis/hypogenesisB W M van Bon, D A Koolen, R Borgatti, et al.American Journal of Human Genetics|March 28, 2017
De Novo Truncating Mutations in the Last and Penultimate Exons of PPM1D Cause an Intellectual Disability SyndromeSandra Jansen, Sinje Geuer, Rolph Pfundt, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 4, 2021
Loss-of-function and missense variants in NSD2 cause decreased methylation activity and are associated with a distinct developmental phenotypePaolo Zanoni, Katharina Steindl, Deepanwita Sengupta, et al.Human Mutation|August 10, 2013
Coffin-Siris syndrome and the BAF complex: genotype-phenotype study in 63 patientsGijs W E Santen, Emmelien Aten, Anneke T Vulto-van Silfhout, et al.European Journal of Human Genetics : EJHG|September 7, 2019
KIF1A variants are a frequent cause of autosomal dominant hereditary spastic paraplegiaMaartje Pennings, Meyke I Schouten, Judith van Gaalen, et al.European Journal of Human Genetics : EJHG|September 15, 2021
Establishing the phenotypic spectrum of ZTTK syndrome by analysis of 52 individuals with variants in SONAlexander J M Dingemans, Kim M G Truijen, Jung-Hyun Kim, et al.The American Journal of Gastroenterology|May 18, 2011
Predictors for neoplastic progression in patients with Barrett's Esophagus: a prospective cohort studyM Sikkema, C W N Looman, E W Steyerberg, et al.Cell|July 8, 2014
Disruptive CHD8 mutations define a subtype of autism early in developmentRaphael Bernier, Christelle Golzio, Bo Xiong, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 18, 2016
The expanding clinical phenotype of Bosch-Boonstra-Schaaf optic atrophy syndrome: 20 new cases and possible genotype-phenotype correlationsChun-An Chen, Daniëlle G M Bosch, Megan T Cho, et al.Pageof 88