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Blood|January 1, 2010
Verification of the susceptibility loci on 7p12.2, 10q21.2, and 14q11.2 in precursor B-cell acute lymphoblastic leukemia of childhoodRashmi B Prasad, Fay J Hosking, Jayaram Vijayakrishnan, et al.
American Journal of Human Genetics|May 19, 2015
Biallelic mutations in the autophagy regulator DRAM2 cause retinal dystrophy with early macular involvementMohammed E El-Asrag, Panagiotis I Sergouniotis, Martin McKibbin, et al.
American Journal of Human Genetics|March 22, 2016
Pathogenic Variants in PIGG Cause Intellectual Disability with Seizures and HypotoniaPeriklis Makrythanasis, Mitsuhiro Kato, Maha S Zaki, et al.
American Journal of Human Genetics|December 3, 2015
Congenital Myasthenic Syndrome Type 19 Is Caused by Mutations in COL13A1, Encoding the Atypical Non-fibrillar Collagen Type XIII α1 ChainClare V Logan, Judith Cossins, Pedro M Rodríguez Cruz, et al.
American Journal of Human Genetics|May 3, 2011
The essential role of centrosomal NDE1 in human cerebral cortex neurogenesisMehmet Bakircioglu, Ofélia P Carvalho, Maryam Khurshid, et al.
Investigative Ophthalmology & Visual Science|April 9, 2011
Genetic heterogeneity for recessively inherited congenital cataract microcornea with corneal opacityKamron Khan, Ahmed Al-Maskari, Martin McKibbin, et al.
Plos One|April 8, 2017
A tubulin alpha 8 mouse knockout model indicates a likely role in spermatogenesis but not in brain developmentChristine P Diggle, Isabel Martinez-Garay, Zoltan Molnar, et al.
Nature|November 20, 2024
Examining the role of common variants in rare neurodevelopmental conditionsQin Qin Huang, Emilie M Wigdor, Daniel S Malawsky, et al.
Nature Genetics|November 10, 2015
Mutations in the transcriptional repressor REST predispose to Wilms tumorShazia S Mahamdallie, Sandra Hanks, Kristen L Karlin, et al.
American Journal of Human Genetics|November 19, 2013
Loss-of-function mutations in TBC1D20 cause cataracts and male infertility in blind sterile mice and Warburg micro syndrome in humansRyan P Liegel, Mark T Handley, Adam Ronchetti, et al.
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