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American Journal of Human Genetics|November 26, 2019
Making the Most of Clumping and Thresholding for Polygenic ScoresFlorian Privé, Bjarni J Vilhjálmsson, Hugues Aschard, et al.American Journal of Human Genetics|December 30, 2019
Allelic Heterogeneity at the CRP Locus Identified by Whole-Genome Sequencing in Multi-ancestry CohortsLaura M Raffield, Apoorva K Iyengar, Biqi Wang, et al.American Journal of Human Genetics|December 24, 2019
Pathogenic Bi-allelic Mutations in NDUFAF8 Cause Leigh Syndrome with an Isolated Complex I DeficiencyCharlotte L Alston, Mike T Veling, Juliana Heidler, et al.American Journal of Human Genetics|December 24, 2019
SYCP2 Translocation-Mediated Dysregulation and Frameshift Variants Cause Human Male InfertilitySamantha L P Schilit, Shreya Menon, Corinna Friedrich, et al.American Journal of Human Genetics|December 25, 2019
Complete Sequence of the 22q11.2 Allele in 1,053 Subjects with 22q11.2 Deletion Syndrome Reveals Modifiers of Conotruncal Heart DefectsYingjie Zhao, Alexander Diacou, H Richard Johnston, et al.American Journal of Human Genetics|March 21, 2020
De novo EIF2AK1 and EIF2AK2 Variants Are Associated with Developmental Delay, Leukoencephalopathy, and Neurologic DecompensationDongxue Mao, Chloe M Reuter, Maura R Z Ruzhnikov, et al.American Journal of Human Genetics|December 12, 2018
Human Models Are Needed for Studying Human Neurodevelopmental DisordersXinyu Zhao, Anita BhattacharyyaAmerican Journal of Human Genetics|December 2, 2019
Integrating Clinical Data and Imputed Transcriptome from GWAS to Uncover Complex Disease Subtypes: Applications in Psychiatry and CardiologyLiangying Yin, Carlos K L Chau, Pak-Chung Sham, et al.American Journal of Human Genetics|November 1, 2019
The Human-Specific BOLA2 Duplication Modifies Iron Homeostasis and Anemia Predisposition in Chromosome 16p11.2 Autism IndividualsGiuliana Giannuzzi, Paul J Schmidt, Eleonora Porcu, et al.American Journal of Human Genetics|December 1, 1988
Calculation of probability of paternity using DNA sequencesD W Gjertson, M R Mickey, J Hopfield, et al.Pageof 980