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American Journal of Human Genetics cover

American Journal of Human Genetics

IF8.1
Papers24163
Citations43108
Journal Papers 24163
Publication Date
This month in The Journal
delete2026-11-05
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deletePaul W. Hook; Alyson B. Barnes
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Scaling haplospecific antisense oligonucleotides from N-of-1 to broad use in genetic disease populations by diplotyping
delete2026-11-05
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deleteOlivia Kim-McManus; Pagé Goddard; Shahad Olsson; Liana Protopsaltis; Joseph Gleeson; Qing Zhang; Nafeesa Kahn; Ali Crawford; Stephen F. Kingsmore
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Population-scale genomics reveals divergent pathogenicity of variant classes across paralogous collagen IV genes
delete2026-11-02
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deleteKonstantinos Tzoumkas; Gabriel T. Doctor; Omid Sadeghi-Alavijeh; Daniel P. Gale
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Deep CRISPR mutagenesis predicts cancer risk in Li-Fraumeni syndrome
delete2026-11-02
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deleteJudith Penkert; Anika Großhennig; Christina M. Dutzmann; Annika Ewert; Rika Zimmer; Jan-Christoph Schoene-Bake; Valentina Moersch; Farina Silchmüller; Josephine Gieseke; Birte Sänger; Tanja Gerasimov; Christian P. Kratz
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The genetic architecture of pentanucleotide repeat variation and disease association
delete2026-10-16
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deleteIsaac R.L. Xu; David Pellerin; Liedewei Van De Vondel; Ben Weisburd; Egor Dolzhenko; Matt C. Danzi; Stephan Zuchner
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Accurate detection of sub-1% frequency somatic mutations by whole-genome sequencing
delete2026-10-15
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deleteYeongjun Jang; Stephanie Gardiner; Yifan Wang; Abhiram Natu; Mrunal K. Dehankar; Livia Tomasini; Arijit Panda; Carrie Cibulskis; Lisa Anderson; Tim H.H. Coorens; Ji Won Oh; Alexander E. Urban; Kristin Ardlie; Gabor Marth; Flora M. Vaccarino; Alexej Abyzov
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Loss of the human BRIP1 C terminus does not cause Fanconi anemia
delete2026-10-12
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deleteAnja Droste; Alexandra Sobeck; Jost Knaup; Isabell Popp; Julia Vodopiutz; Andreas-Robert Janecke; Britta Fiebig; Monika Maringa; Ulrike Faust; Natalie Carter; Robert Maiwald; Leo Kager; Jan Hauke; Detlev Schindler; Regina Hark; Viola Lalomia; Renata Kulka; Christian P. Kratz; Anna Repczynska; Reinhard Kalb
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A massively parallel reporter assay of MECP2 cis-regulatory elements reveals genetic candidates for male-biased autism
delete2026-10-09
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deleteRebecca Meyer-Schuman; Fisher Cherry; Yang Sui; Athanasios Papastathopoulos-Katsaros; Yi Zhong; Yidan Li; Tianyun Wang; Kelsey Hennick; Druha Karunakaran; Hanna Berk-Rauch; Zhandong Liu; Aravinda Chakravarti; Tomasz Nowakowski; Evan E. Eichler; Huda Zoghbi
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This month in The Journal
delete2026-10-01
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deletePaul W. Hook; Alyson B. Barnes
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Effect heterogeneity reveals complex pleiotropic effects of rare coding variants
delete2026-09-30
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deleteWenhan Lu; Siwei Chen; Chiara Auwerx; Jack Fu; Danielle Posthuma; Benjamin M. Neale; Luke J. O’Connor; Konrad J. Karczewski
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Genetic data sharing by clinical laboratories in Canada: A position statement by the Canadian College of Medical Geneticists
delete2026-09-22
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deleteJordan Lerner-Ellis; Yael Fisher; Ma’n H. Zawati; Ronald Agatep; Nick Antonishyn; Ian Bosdet; Kym M. Boycott; Ian King; Ryan E. Lamont; Christian R. Marshall; Victor D. Martinez; Tanya N. Nelson; Darren O’Rielly; Stephen Yip; Barbara Shantz; Andrea Herscovich; E. Magda Price; Taila Hartley; Kathy Chun
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International experiences of genomic newborn screening: Lessons from over 10,800 newborns
delete2026-09-21
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deleteZornitza Stark; Sebastian Lunke; François Boemer; Heidi L. Cope; Curt Scharfe; Laurent Servais; Wendy K. Chung
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Beyond exons: Linking noncoding heritability and polygenicity across complex human traits and disorders
delete2026-09-04
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deleteJulian Fuhrer; Alexey A. Shadrin; Timothy Hughes; Nadine Parker; Guy Hindley; Evgeniia Frei; Dat Nguyen; Olav B. Smeland; Srdjan Djurovic; Ole A. Andreassen; Anders M. Dale; Oleksandr Frei
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Phenome- and laboratory-wide meta-analyses of sickle cell trait reveal multi-system disease associations
delete2026-09-03
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deleteMicah R. Hysong; Megan M. Shuey; Tyne W. Miller-Fleming; Karl Keat; Adrienne M. Stilp; Yun Li; Nancy J. Cox; Paul L. Auer; Nora Franceschini; Anurag Verma; Laura M. Raffield; Alexander P. Reiner
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Mutation rate heterogeneity biases variant effect prediction and reveals genuine mutational robustness
delete2026-09-03
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deleteHossameldin Loay; Prathitha Kar; Evan Koch; Vladimir Seplyarskiy; Donate Weghorn
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This month in The Journal
delete2026-09-03
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deletePaul W. Hook; Alyson B. Barnes
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Anthropometric and cardio-metabolic trait variation and genetic associations in sub-Saharan Africa
delete2026-09-01
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deleteHansen, Matthew E. B.; Hazra, Ujani; Kim, Michelle; Raj, Srilakshmi M.; Fan, Shaohua; Beggs, William; Mpoloka, Sunungouko Wata; Mokone, Gaonyadiwe George; Nyambo, Thomas; Meskel, Dawit Wolde; Belay, Gurja; Hirbo, Jibril; Ranciaro, Alessia; Lachance, Joseph; Tishkoff, Sarah A.
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A phenotypic paradigm for cerebral palsy genetics
delete2026-09-01
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deleteArterbery, Adam S.; Gargano, Michael A.; Bagley, Anita; Sundaramurthi, Jagadish Chandrabose; Rekerle, Lauren; Ordaz-Robles, Thania; Danis, Daniel; Graefe, Adam S. L.; Arenas-Diaz, Ana L.; Bauer, Jeremy P.; Blau, Hannah; Carmody, Leigh; Carroll, Kristen I.; Davis, Janice; Giampietro, Philip F.; Gustafson, Anxhela Gjyshi; Hernandez, Monserat; Jacobsen, Julius O. B.; Lemhouse, Paige; Millet, David; Mukherjee, Shubhra; Nairne, Patrick S.; Nice, Emily; Plotkin, Talia; Powell, Kenneth; Ramlow, Lukas; Raney, Ellen M.; Shingle, Mallory; Smedley, Damian; Smith, Peter A.; Soliman, Demiana A.; Westberry, David E.; Davids, Jon R.; Robinson, Peter N.
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