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American Journal of Human Genetics|July 16, 2019
Mutations in ANAPC1, Encoding a Scaffold Subunit of the Anaphase-Promoting Complex, Cause Rothmund-Thomson Syndrome Type 1Norbert F Ajeawung, Thi Tuyet Mai Nguyen, Linchao Lu, et al.American Journal of Human Genetics|April 20, 2024
Aspiring toward equitable benefits from genomic advances to individuals of ancestrally diverse backgroundsYing Wang, Yixuan He, Yue Shi, et al.American Journal of Human Genetics|April 18, 2024
Genomic Answers for Kids: Toward more equitable access to genomic testing for rare diseases in rural populationsAna S A Cohen, Courtney D Berrios, Tricia N Zion, et al.American Journal of Human Genetics|August 26, 2014
A mutation of COX6A1 causes a recessive axonal or mixed form of Charcot-Marie-Tooth diseaseGen Tamiya, Satoshi Makino, Makiko Hayashi, et al.American Journal of Human Genetics|August 26, 2014
Neu-Laxova syndrome is a heterogeneous metabolic disorder caused by defects in enzymes of the L-serine biosynthesis pathwayRocio Acuna-Hidalgo, Denny Schanze, Ariana Kariminejad, et al.American Journal of Human Genetics|September 6, 2014
Transcriptome sequencing of a large human family identifies the impact of rare noncoding variantsXin Li, Alexis Battle, Konrad J Karczewski, et al.American Journal of Human Genetics|March 1, 2016
Phenotype Similarity Regression for Identifying the Genetic Determinants of Rare DiseasesDaniel Greene, , Sylvia Richardson, et al.American Journal of Human Genetics|June 28, 2016
Platelet-Related Variants Identified by Exomechip Meta-analysis in 157,293 IndividualsJohn D Eicher, Nathalie Chami, Tim Kacprowski, et al.American Journal of Human Genetics|June 28, 2016
Contrasting the Genetic Architecture of 30 Complex Traits from Summary Association DataHuwenbo Shi, Gleb Kichaev, Bogdan PasaniucAmerican Journal of Human Genetics|July 5, 2016
PADRE: Pedigree-Aware Distant-Relationship EstimationJeffrey Staples, David J Witherspoon, Lynn B Jorde, et al.Pageof 981