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American Journal of Human Genetics|July 20, 2001
p63 Gene mutations in eec syndrome, limb-mammary syndrome, and isolated split hand-split foot malformation suggest a genotype-phenotype correlationH van Bokhoven, B C Hamel, M Bamshad, et al.Journal of Dental Research|November 12, 2016
Novel IRF6 Mutations Detected in Orofacial Cleft Patients by Targeted Massively Parallel SequencingK D Khandelwal, N Ishorst, H Zhou, et al.Journal of Medical Genetics|March 7, 2009
Further clinical and molecular delineation of the 9q subtelomeric deletion syndrome supports a major contribution of EHMT1 haploinsufficiency to the core phenotypeT Kleefstra, W A van Zelst-Stams, W M Nillesen, et al.Molecular Syndromology|June 7, 2012
Update on Kleefstra SyndromeM H Willemsen, A T Vulto-van Silfhout, W M Nillesen, et al.Molecular Psychiatry|September 2, 2018
Correction: Exome sequencing of Pakistani consanguineous families identifies 30 novel candidate genes for recessive intellectual disabilityS Riazuddin, M Hussain, A Razzaq, et al.Molecular Psychiatry|July 27, 2016
Exome sequencing of Pakistani consanguineous families identifies 30 novel candidate genes for recessive intellectual disabilityS Riazuddin, M Hussain, A Razzaq, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 27, 2020
De novo variants in MED12 cause X-linked syndromic neurodevelopmental disorders in 18 femalesD L Polla, E J Bhoj, J B G M Verheij, et al.Molecular Psychiatry|August 24, 2016
De novo and inherited mutations in the X-linked gene CLCN4 are associated with syndromic intellectual disability and behavior and seizure disorders in males and femalesE E Palmer, T Stuhlmann, S Weinert, et al.Molecular Psychiatry|February 4, 2015
X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genesH Hu, S A Haas, J Chelly, et al.Pageof 7