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American Journal of Human Genetics|March 20, 2018
Relationship between Deleterious Variation, Genomic Autozygosity, and Disease Risk: Insights from The 1000 Genomes ProjectTrevor J Pemberton, Zachary A Szpiech
American Journal of Human Genetics|February 20, 2018
Heterozygous Mutations in OAS1 Cause Infantile-Onset Pulmonary Alveolar Proteinosis with HypogammaglobulinemiaKazutoshi Cho, Masafumi Yamada, Kazunaga Agematsu, et al.
American Journal of Human Genetics|March 3, 2018
Single-Cell RNA-Seq of Mouse Dopaminergic Neurons Informs Candidate Gene Selection for Sporadic Parkinson DiseasePaul W Hook, Sarah A McClymont, Gabrielle H Cannon, et al.
American Journal of Human Genetics|December 9, 2017
A Powerful Approach to Estimating Annotation-Stratified Genetic Covariance via GWAS Summary StatisticsQiongshi Lu, Boyang Li, Derek Ou, et al.
American Journal of Human Genetics|November 4, 2017
Local Genetic Correlation Gives Insights into the Shared Genetic Architecture of Complex TraitsHuwenbo Shi, Nicholas Mancuso, Sarah Spendlove, et al.
American Journal of Human Genetics|November 4, 2017
Natural Selection on Genes Related to Cardiovascular Health in High-Altitude Adapted AndeansJacob E Crawford, Ricardo Amaru, Jihyun Song, et al.
American Journal of Human Genetics|November 4, 2017
Mutations in GREB1L Cause Bilateral Kidney Agenesis in Humans and MiceLara De Tomasi, Pierre David, Camille Humbert, et al.
American Journal of Human Genetics|November 4, 2017
Mutations in Fibronectin Cause a Subtype of Spondylometaphyseal Dysplasia with "Corner Fractures"Chae Syng Lee, He Fu, Nissan Baratang, et al.
American Journal of Human Genetics|November 4, 2017
Mutations in GPAA1, Encoding a GPI Transamidase Complex Protein, Cause Developmental Delay, Epilepsy, Cerebellar Atrophy, and OsteopeniaThi Tuyet Mai Nguyen, Yoshiko Murakami, Eamonn Sheridan, et al.
American Journal of Human Genetics|March 1, 1989
Inheritance of ornithine aminotransferase gene, mRNA, and enzyme defect in a family with gyrate atrophy of the choroid and retinaY Hotta, N G Kennaway, R G Weleber, et al.
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