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De novo mutations in NALCN cause a syndrome characterized by congenital contractures of the limbs and face, hypotonia, and developmental delay JX Chong, MJ McMillin, KM Shively, AE Beck, CT Marvin, JR Armenteros, ... The American Journal of Human Genetics 96 (3), 462-473, 2015 | 143 | 2015 |
Mutations in the epithelial cadherin-p120-catenin complex cause mendelian non-syndromic cleft lip with or without cleft palate LL Cox, TC Cox, LMM Uribe, Y Zhu, CT Richter, N Nidey, JM Standley, ... The American Journal of Human Genetics 102 (6), 1143-1157, 2018 | 104 | 2018 |
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Evidence for three loci modifying age‐at‐onset of Alzheimer's disease in early‐onset PSEN2 families EE Marchani, TD Bird, EJ Steinbart, E Rosenthal, CE Yu, ... American Journal of Medical Genetics Part B: Neuropsychiatric Genetics 153 …, 2010 | 36 | 2010 |
Functional annotation of genomic variants in studies of late-onset Alzheimer’s disease M Butkiewicz, EE Blue, YY Leung, X Jian, E Marcora, AE Renton, ... Bioinformatics 34 (16), 2724-2731, 2018 | 34 | 2018 |
Using whole exome sequencing to identify candidate genes with rare variants in nonsyndromic cleft lip and palate A Aylward, Y Cai, A Lee, E Blue, D Rabinowitz, J Haddad Jr, ... Genetic epidemiology 40 (5), 432-441, 2016 | 34 | 2016 |