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American Journal of Human Genetics|January 3, 2025
EEFSEC deficiency: A selenopathy with early-onset neurodegenerationLucia Laugwitz, Rebecca Buchert, Patricio Olguín, et al.
American Journal of Human Genetics|January 3, 2025
Characterizing features affecting local ancestry inference performance in admixed populationsJessica Honorato-Mauer, Nirav N Shah, Adam X Maihofer, et al.
American Journal of Human Genetics|January 3, 2025
CIROZ is dispensable in ancestral vertebrates but essential for left-right patterning in humansEmmanuelle Szenker-Ravi, Tim Ott, Amirah Yusof, et al.
American Journal of Human Genetics|December 6, 2024
Prequalification of genome-based newborn screening for severe childhood genetic diseases through federated training based on purifying hyperselectionStephen F Kingsmore, Meredith Wright, Laurie D Smith, et al.
American Journal of Human Genetics|January 6, 2024
Systematic identification of genotype-dependent enhancer variants in eosinophilic esophagitisMolly S Shook, Xiaoming Lu, Xiaoting Chen, et al.
American Journal of Human Genetics|January 5, 2024
Interaction molecular QTL mapping discovers cellular and environmental modifiers of genetic regulatory effectsSilva Kasela, François Aguet, Sarah Kim-Hellmuth, et al.
American Journal of Human Genetics|January 5, 2024
An interactive atlas of three-dimensional syndromic facial morphologyJ David Aponte, Jordan J Bannister, Hanne Hoskens, et al.
American Journal of Human Genetics|November 29, 2023
Identifying risk variants for embryo aneuploidy using ultra-low coverage whole-genome sequencing from preimplantation genetic testingSiqi Sun, Mansour Aboelenain, Daniel Ariad, et al.
American Journal of Human Genetics|November 30, 2023
Exonic trinucleotide repeat expansions in ZFHX3 cause spinocerebellar ataxia type 4: A poly-glycine diseaseJoel Wallenius, Efthymia Kafantari, Emma Jhaveri, et al.
American Journal of Human Genetics|November 24, 2023
CHARR efficiently estimates contamination from DNA sequencing dataWenhan Lu, Laura D Gauthier, Timothy Poterba, et al.
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