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American Journal of Human Genetics|July 9, 2021
Dissection of pleiotropic effects of variants in and adjacent to F8 exon 19 and rescue of mRNA splicing and protein functionSilvia Lombardi, Gabriele Leo, Simone Merlin, et al.
American Journal of Human Genetics|January 1, 1985
Genes controlling gp25/30 cell-surface molecules map to chromosomes X and Y and escape X-inactivationN C Dracopoli, W J Rettig, A P Albino, et al.
American Journal of Human Genetics|October 6, 2020
Plasma DNA Profile Associated with DNASE1L3 Gene Mutations: Clinical Observations, Relationships to Nuclease Substrate Preference, and In Vivo CorrectionRebecca W Y Chan, Lee Serpas, Meng Ni, et al.
American Journal of Human Genetics|October 6, 2020
Breast Cancer Polygenic Risk Score and Contralateral Breast Cancer RiskIris Kramer, Maartje J Hooning, Nasim Mavaddat, et al.
American Journal of Human Genetics|October 15, 2020
Germline and Mosaic Variants in PRKACA and PRKACB Cause a Multiple Congenital Malformation SyndromeAdrian Palencia-Campos, Phillip C Aoto, Erik M F Machal, et al.
American Journal of Human Genetics|May 26, 2021
Genetic effects on liver chromatin accessibility identify disease regulatory variantsKevin W Currin, Michael R Erdos, Narisu Narisu, et al.
American Journal of Human Genetics|February 22, 2020
Smoking, DNA Methylation, and Lung Function: a Mendelian Randomization Analysis to Investigate Causal PathwaysEmily Jamieson, Roxanna Korologou-Linden, Robyn E Wootton, et al.
American Journal of Human Genetics|July 27, 2021
TNPO2 variants associate with human developmental delays, neurologic deficits, and dysmorphic features and alter TNPO2 activity in DrosophilaLindsey D Goodman, Heidi Cope, Zelha Nil, et al.
American Journal of Human Genetics|July 21, 2021
Interpretable prioritization of splice variants in diagnostic next-generation sequencingDaniel Danis, Julius O B Jacobsen, Leigh C Carmody, et al.
American Journal of Human Genetics|July 22, 2021
Cell-type-specific meQTLs extend melanoma GWAS annotation beyond eQTLs and inform melanocyte gene-regulatory mechanismsTongwu Zhang, Jiyeon Choi, Ramile Dilshat, et al.
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