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American Journal of Human Genetics cover

American Journal of Human Genetics

IF8.1
Papers7204
Citations37336
Journal Papers 24139
Publication Date
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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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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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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This month in The Journal
delete2026-09-03
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deletePaul W. Hook; Alyson B. Barnes
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Long-read transcriptome analysis using IsoRanker for identifying pathogenic variants in Mendelian conditions
delete2026-08-25
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deleteYong-Han Hank Cheng; Adriana E. Sedeño-Cortés; Jane E. Ranchalis; Katherine M. Munson; Mitchell R. Vollger; Elsa Balton; Casie A. Genetti; Jenny L. Wilson; Monica H. Wojcik; Alan H. Beggs; Michael J. Bamshad; Chia-Lin Wei; Katrina M. Dipple; Runjun D. Kumar; Mark D. Fleming; Ian A. Glass; Elizabeth E. Blue; Gail Jarvik; Jessica X. Chong; Daniela M. Witten
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Distinct mutational landscapes for germline and somatic cancer variants in forty tumor suppressor genes
delete2026-08-25
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deleteSuhasini D. Lulla; Deborah I. Ritter; Chimene Kesserwan; Sharon E. Plon
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Shared genetic basis and structure of syndromic and normal facial variation
delete2026-08-21
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deleteJ. David Aponte; Cassidy Da Silva; Hanne Hoskens; Seppe Goovaerts; Michiel Vanneste; Jay Devine; Katherine Caine; Alexander Buchner Beaudet; H. Artee Luchman; Seth M. Weinberg; Hilde Peeters; Ophir D. Klein; Ralph S. Marcucio; A. Micheil Innes; Peter Claes; Richard A. Spritz; Francois P. Bernier; Benedikt Hallgrímsson
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Overlapping Xp21.2 duplications define an X-linked hypotrichosis simplex and implicate TAB3 dosage sensitivity
delete2026-08-18
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PREAI
deleteQiaoyu Cao; Anqi Zhao; Jianbo Wang; Xinjie Lin; Zhoukai Long; Chaolan Pan; Kai Yang; Chun Gu; Yumeng Wang; Lu Li; Xiaoxiao Wang; Jinran Lin; Wenyu Wu; Rushan Xia; Ming Li
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Shared inheritance reveals landscape of somatic and germline cancer risk in TP53
delete2026-08-17
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deleteHamish A.J. MacGregor; Jamie R. Blundell; Douglas F. Easton
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Examining gaps in institutional policies for clinical genomic data sharing: A cross-jurisdictional study
delete2026-08-17
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deleteZhaoping Ju; Yunhe Xue; Abby Rud; Juliann M. Savatt; Jordan Lerner-Ellis; Heidi L. Rehm; Yann Joly; Diya Uberoi
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The Gabriella Miller Kids First Data Resource for genomic research in pediatric cancer and congenital anomalies
delete2026-08-17
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deleteDavid M. Higgins; Christopher Blackden; Miguel Brown; Christina Diaz; Leslie Duffy; Christopher Friedman; Yiran Guo; Mateusz Koptyra; Qi Li; Alex Lubneuski; Dan Miller; Bobby Moulder; Wendy Payton; Emily Reed; Whitney Rife; Alex Sickler; Natasha Singh; Amanda Warkow; Eric Wenger; Jessica Wong; Bo Zhang; Chuwei Zhong; Yuankun Zhu; Gaelle Altefrohne; Denis Beauregard; Jeremy Costanza; Evans Girard; Luc-Frederic Langis; Lucas Lemonnier; Adrian Paul; Céline Pelletier; Karine St-Onge; Jean-Philippe Thibert; Michele Mattioni; Surya Saha; Jared Rozowsky; Milos Trboljevac; Marko Zecevic; Jeff Knight; Gina Kuffel; Radhika Reddy; Pauline Ribeyre; Bailey Farrow; Yelena Cox; Andrew Ericson; Jamed Ferreris Vargas; Sophie Forman; Sofia Labrecque; Eric Torstenson; Kai Yin Ho; Nicole A. Vasilevsky; Emily Boja; Valerie Cotton; Danielle Daee; Marcia V. Fournier; Jaime M. Guidry Auvil; Andréa C. Harris; Huiqing Li; Lu Wang; Brandi Davis-Dusenbery; Melissa A. Haendel; Jena Lilly; Phillip B. Storm; Sam Volchenboum; Robert L. Grossman; Robert Carroll; Jack DiGiovanna; Deanne Taylor; Vincent Ferretti; Adam Resnick; Allison P. Heath
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Response to Quinodoz and Leroy
delete2026-08-06
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PREAI
deleteKirill Zaslavsky; Liyin Chen; Chloe Park; Emily M. Place; Daniel Navarro-Gomez; Seyedeh M. Zekavat; Christopher F. Barile; Kinga M. Bujakowska; Elizabeth J. Rossin; Eric A. Pierce
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Cell villages and Dirichlet modeling map human cell fitness genetics
delete2026-08-03
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deleteChloe Hanson; Timothy Derebenskiy; Ana Rodriguez Vega; Yashika S. Kamte; Rachel G. Fox; Laila Sathe; Hannah Lambing; Tyler E. Dietterich; Derek Hawes; Ralda Nehme; Olli Pietiläinen; Aarno Palotie; Patrick Allard; Harold Pimentel; Michael F. Wells
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Mismapping of sequencing reads from polymorphic duplications generates spurious trans-eQTLs
delete2026-07-28
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deleteAlber Aqil; Betty Y.H. Huang; Pavlos Pavlidis; Rajiv C. McCoy; Omer Gokcumen
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Position effect at the SOX3 locus by an interchromosomal insertion causes hereditary spastic paraplegia
delete2026-07-24
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deleteThorkild Terkelsen; Veronica Yumiceba; Joshua Kim; Uirá Souto Melo; Esben Axelgaard; Fabia Febbraro; Anders Vermelin Gunnarsson; Saranya Balachandran; Mikkel Dahl-Jessen; Rikke Christensen; Brock Andrew Peters; null Asan; Thomas Thelle; Mette Nyegaard; Rasmus O. Bak; Mark Denham; Malte Spielmann; Uffe Birk Jensen
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Transforming blood-derived episignatures into cell-type-agnostic classifiers: A shortcut to prenatal episignatures
delete2026-07-23
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deleteNikola Reko; Arteen Torabi-Marashi; Prajkta Kallurkar; Sarah J. Goodman; Zain Awamleh; Andrei L. Turinsky; Daria Grafodatskaya; Bianca E. Russell; Karen Chong; Jung Min Ko; Ebba Alkhunaizi; David Chitayat; Elena Greenfeld; Stephen W. Scherer; Elizabeth McCready; Rosanna Weksberg; Sanaa Choufani
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