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Cell|October 30, 2012
Single-neuron sequencing analysis of L1 retrotransposition and somatic mutation in the human brainGilad D Evrony, Xuyu Cai, Eunjung Lee, et al.HGG Advances|April 5, 2026
A Homozygous Nonsense Variant in the Oligosaccharyltransferase Complex Gene, RPN1, Causes a Congenital Disorder of GlycosylationBobby G Ng, Wenyue Zhang, Jennifer E Neil, et al.Diabetes|August 28, 2023
The Role of ONECUT1 Variants in Monogenic and Type 2 Diabetes MellitusJames Russ-Silsby, Kashyap A Patel, Thomas W Laver, et al.Annals of Neurology|June 21, 2006
Mutated nup62 causes autosomal recessive infantile bilateral striatal necrosisLina Basel-Vanagaite, Liora Muncher, Rachel Straussberg, et al.Cell|September 27, 2016
Mutations in Human Accelerated Regions Disrupt Cognition and Social BehaviorRyan N Doan, Byoung-Il Bae, Beatriz Cubelos, et al.Neuron|December 16, 2016
Microcephaly Proteins Wdr62 and Aspm Define a Mother Centriole Complex Regulating Centriole Biogenesis, Apical Complex, and Cell FateDivya Jayaraman, Andrew Kodani, Dilenny M Gonzalez, et al.Annals of Neurology|May 6, 2003
Bilateral frontoparietal polymicrogyria: clinical and radiological features in 10 families with linkage to chromosome 16Bernard S Chang, Xianhua Piao, Adria Bodell, et al.Nature Genetics|August 24, 2004
Abnormal cerebellar development and axonal decussation due to mutations in AHI1 in Joubert syndromeRussell J Ferland, Wafaa Eyaid, Randall V Collura, et al.Cell|August 28, 2016
Cell-Type-Specific Alternative Splicing Governs Cell Fate in the Developing Cerebral CortexXiaochang Zhang, Ming Hui Chen, Xuebing Wu, et al.American Journal of Medical Genetics. Part A|January 8, 2005
Mutations in POMT1 are found in a minority of patients with Walker-Warburg syndromeSophie C Currier, Christine K Lee, Bernard S Chang, et al.Pageof 41