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American Journal of Human Genetics|July 28, 2009
RIN2 deficiency results in macrocephaly, alopecia, cutis laxa, and scoliosis: MACS syndromeLina Basel-Vanagaite, Ofer Sarig, Dov Hershkovitz, et al.
Human Mutation|August 30, 2008
Ethnically diverse causes of Walker-Warburg syndrome (WWS): FCMD mutations are a more common cause of WWS outside of the Middle EastM Chiara Manzini, Danielle Gleason, Bernard S Chang, et al.
American Journal of Human Genetics|July 2, 2013
Mutations in PIK3R1 cause SHORT syndromeDavid A Dyment, Amanda C Smith, Diana Alcantara, et al.
Human Genetics|March 21, 2015
Homozygous MED25 mutation implicated in eye-intellectual disability syndromeLina Basel-Vanagaite, Pola Smirin-Yosef, Jenna Lee Essakow, et al.
American Journal of Human Genetics|November 2, 2010
SOBP is mutated in syndromic and nonsyndromic intellectual disability and is highly expressed in the brain limbic systemEfrat Birk, Adi Har-Zahav, Chiara M Manzini, et al.
American Journal of Human Genetics|December 24, 2013
Dominant mutations in GRHL3 cause Van der Woude Syndrome and disrupt oral periderm developmentMyriam Peyrard-Janvid, Elizabeth J Leslie, Youssef A Kousa, et al.
Molecular Cell|October 16, 2012
eIF2γ mutation that disrupts eIF2 complex integrity links intellectual disability to impaired translation initiationGuntram Borck, Byung-Sik Shin, Barbara Stiller, et al.
Brain : a Journal of Neurology|October 19, 2010
Clinical, neuroradiological and genetic findings in pontocerebellar hypoplasiaYasmin Namavar, Peter G Barth, Paul R Kasher, et al.
Human Molecular Genetics|March 27, 2009
Loss-of-function mutations in ATP6V0A2 impair vesicular trafficking, tropoelastin secretion and cell survivalVishwanathan Hucthagowder, Eva Morava, Uwe Kornak, et al.
American Journal of Human Genetics|September 13, 2016
De Novo Mutations in CHD4, an ATP-Dependent Chromatin Remodeler Gene, Cause an Intellectual Disability Syndrome with Distinctive DysmorphismsKarin Weiss, Paulien A Terhal, Lior Cohen, et al.
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