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JAMA Neurology|September 15, 2015
Association of Long Runs of Homozygosity With Alzheimer Disease Among African American IndividualsMahdi Ghani, Christiane Reitz, Rong Cheng, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 14, 2022
Loss-of-function variants in SRRM2 cause a neurodevelopmental disorderSilvestre Cuinat, Mathilde Nizon, Bertrand Isidor, et al.Alzheimer'S & Dementia : the Journal of the Alzheimer'S Association|June 21, 2015
Global and local ancestry in African-Americans: Implications for Alzheimer's disease riskTimothy J Hohman, Jessica N Cooke-Bailey, Christiane Reitz, et al.American Journal of Human Genetics|December 25, 2024
Heterozygous UBR5 variants result in a neurodevelopmental syndrome with developmental delay, autism, and intellectual disabilityPascale Sabeh, Samantha A Dumas, Claudia Maios, et al.Archives of Neurology|April 13, 2011
Genetic and clinical features of progranulin-associated frontotemporal lobar degenerationAlice S Chen-Plotkin, Maria Martinez-Lage, Patrick M A Sleiman, et al.American Journal of Human Genetics|June 20, 2020
De Novo Variants in CNOT1, a Central Component of the CCR4-NOT Complex Involved in Gene Expression and RNA and Protein Stability, Cause Neurodevelopmental DelayLisenka E L M Vissers, Sreehari Kalvakuri, Elke de Boer, et al.Brain : a Journal of Neurology|December 14, 2019
MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsisChristopher C Y Mak, Dan Doherty, Angela E Lin, et al.The Journal of Experimental Medicine|March 8, 2023
Human germline heterozygous gain-of-function STAT6 variants cause severe allergic diseaseMehul Sharma, Daniel Leung, Mana Momenilandi, et al.Nature Genetics|February 16, 2010
Common variants at 7p21 are associated with frontotemporal lobar degeneration with TDP-43 inclusionsVivianna M Van Deerlin, Patrick M A Sleiman, Maria Martinez-Lage, et al.JAMA Neurology|December 23, 2014
Rarity of the Alzheimer disease-protective APP A673T variant in the United StatesLi-San Wang, Adam C Naj, Robert R Graham, et al.Pageof 8