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American Journal of Human Genetics|March 24, 2026
The Electronic Medical Records and Genomics study: Design and analytic framework for assessing the impact of genome-informed risk assessmentsNita Limdi, T Mark Beasley, Josh Cortopassi, et al.
American Journal of Human Genetics|March 20, 2026
Best practices for improving alignment and variant calling on human sex chromosomesAngela M Taravella Oill, Seema B Plaisier, Tanya N Phung, et al.
American Journal of Human Genetics|August 1, 1989
ATFresno: a phenotype linking ataxia-telangiectasia with the Nijmegen breakage syndromeC J Curry, P O'Lague, J Tsai, et al.
American Journal of Human Genetics|January 24, 2018
Reccurrent F8 Intronic Deletion Found in Mild Hemophilia A Causes Alu ExonizationYohann Jourdy, Alexandre Janin, Mathilde Fretigny, et al.
American Journal of Human Genetics|June 3, 2026
DiscoDivas: Leveraging genetic-ancestry continuum information to interpolate PRS for admixed populationsYunfeng Ruan, Rohan Bhukar, Aniruddh Patel, et al.
American Journal of Human Genetics|December 18, 1997
Cloning of the human carnitine-acylcarnitine carrier cDNA and identification of the molecular defect in a patientM Huizing, V Iacobazzi, L Ijlst, et al.
American Journal of Human Genetics|June 4, 2026
HiFi sequencing accurately identifies clinically relevant variants in paralogous genesBart van der Sanden, Christian Betz, Katharina Herzog, et al.
American Journal of Human Genetics|April 9, 2021
Efficient mixed model approach for large-scale genome-wide association studies of ordinal categorical phenotypesWenjian Bi, Wei Zhou, Rounak Dey, et al.
American Journal of Human Genetics|June 16, 2015
Biallelic Mutations in NBAS Cause Recurrent Acute Liver Failure with Onset in InfancyTobias B Haack, Christian Staufner, Marlies G Köpke, et al.
American Journal of Human Genetics|February 5, 2019
Erythroid-Progenitor-Targeted Gene Therapy Using Bifunctional TFR1 Ligand-Peptides in Human Erythropoietic ProtoporphyriaArienne Mirmiran, Caroline Schmitt, Thibaud Lefebvre, et al.
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