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American Journal of Human Genetics|June 30, 2015
Recurrent Mutations in the Basic Domain of TWIST2 Cause Ablepharon Macrostomia and Barber-Say SyndromesShannon Marchegiani, Taylor Davis, Federico Tessadori, et al.American Journal of Medical Genetics. Part A|September 21, 2016
Phenotype and genotype in 52 patients with Rubinstein-Taybi syndrome caused by EP300 mutationsPatricia Fergelot, Martine Van Belzen, Julien Van Gils, et al.Plos Genetics|March 28, 2017
Overlapping SETBP1 gain-of-function mutations in Schinzel-Giedion syndrome and hematologic malignanciesRocio Acuna-Hidalgo, Pelagia Deriziotis, Marloes Steehouwer, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 29, 2022
Inherited variants in CHD3 show variable expressivity in Snijders Blok-Campeau syndromeJet van der Spek, Joery den Hoed, Lot Snijders Blok, et al.Medrxiv : the Preprint Server for Health Sciences|February 12, 2026
Uncovering the Genetic Architecture of Optic Nerve Integrity Estimates through Genome-wide Association Study Meta-analysesAsma M Aman, Santiago Diaz-Torres, Samantha Sze-Yee Lee, et al.American Journal of Human Genetics|June 3, 2017
YY1 Haploinsufficiency Causes an Intellectual Disability Syndrome Featuring Transcriptional and Chromatin DysfunctionMichele Gabriele, Anneke T Vulto-van Silfhout, Pierre-Luc Germain, et al.Nucleic Acids Research|November 13, 2013
The Human Phenotype Ontology project: linking molecular biology and disease through phenotype dataSebastian Köhler, Sandra C Doelken, Christopher J Mungall, et al.American Journal of Human Genetics|November 27, 2012
Mutations in DDHD2, encoding an intracellular phospholipase A(1), cause a recessive form of complex hereditary spastic paraplegiaJanneke H M Schuurs-Hoeijmakers, Michael T Geraghty, Erik-Jan Kamsteeg, et al.European Journal of Human Genetics : EJHG|August 27, 2015
The Koolen-de Vries syndrome: a phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variantDavid A Koolen, Rolph Pfundt, Katrin Linda, et al.Journal of Medical Genetics|July 17, 2008
Clinical and molecular delineation of the 17q21.31 microdeletion syndromeD A Koolen, A J Sharp, J A Hurst, et al.Pageof 88