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American Journal of Human Genetics cover

American Journal of Human Genetics

IF8.1
Papers7189
Citations37336
Journal Papers 24124
Publication Date
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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PREAI
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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PREAI
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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Bi-allelic variants in the non-protein-coding minor spliceosome components RNU6ATAC and RNU4ATAC cause syndromic monogenic autoimmune diabetes
delete2026-07-14
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deleteMatthew B. Johnson; James Russ-Silsby; Paul A. Blair; Molly Govier; Georgia Bonfield; Clara Domingo-Vila; Matthew N. Wakeling; Richard A. Oram; Sarah E. Flanagan; Timothy I.M. Tree; Kashyap A. Patel; Andrew T. Hattersley; Elisa De Franco
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Likelihood-based calibration improves the clinical utility of JAG1 functional data for variant classification
delete2026-07-13
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deleteTristan J. Hayeck; Christopher J. Sottolano; Justin J. Blair; Markos N. Xenakis; Nancy B. Spinner; Melissa A. Gilbert
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Landscape of parental postzygotic mutations across >11,000 rare disease trios
delete2026-07-13
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deleteO. Isaac Garcia-Salinas; Katrina A. Andrews; Rashesh Sanghvi; John A. Sayer; Maria Torra I Benach; My H. Pham; Aylwyn Scally; Hilary C. Martin; Raheleh Rahbari
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Clinical, in vitro, and in vivo evidence of WAPL as a cohesinopathy-associated gene and phenotypic driver of 10q22.3q23.2 genomic disorder
delete2026-07-10
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PREAI
deletePhilip M. Boone; Serkan Erdin; Abucar Mohamed; Sadegheh Haghshenas; Kamli N.W. Faour; Emeline Kao; Jack Fu; Chiara Auwerx; Ricardo Harripaul; Bimal Jana; Danielle Springer; Grey Hallstrom; Celine E.F. de Esch; Erica Denhoff; Lauren Holmes; Kiana Mohajeri; John Lemanski; Jennifer Kerkhof; Haley McConkey; Jessica Rzasa
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Bi-allelic variants in CDK20 cause a severe ciliopathy with midline brain and facial anomalies
delete2026-07-06
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PREAI
deleteGabrielle Lemire; Aren E. Marshall; Tejan S. Patel; Jonathan Trejo Martinez; Tally Lerman-Sagie; Wendy Mears; Xueqi Wang; Dorit Lev; Alison J. Eaton; Kelly Bontempo; Brad Angle; Patrick Shannon; Susan Blaser; Kym M. Boycott; Julie Richer; Karen Chong; Theodore G. Drivas; David Chitayat
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Integrative analysis of gastric tissue transcriptomes and gastric cancer GWAS implicates candidate susceptibility genes
delete2026-07-02
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PREAI
deleteBeiping Hu; Min Zhang; Yuhui Yu; Yongchao Liu; Jiawei Wang; Aiping Zhang; Qian Li; Yun Gao; Zhe Li; Lijun Bian; Yuanliang Gu; Xia Zhu; Qiang She; Xuefeng Gao; Bin Deng; Haisheng Fang; Caihong Hu; Yuheng Chen; Yan Chen; Xinya Wang
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Data-driven RNA phenotyping captures genetically regulated dimensions of the transcriptome
delete2026-07-02
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deleteDaniel Munro; Alexander Gusev; Abraham A. Palmer; Pejman Mohammadi
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A transparent and generalizable deep-learning framework for genomic ancestry prediction
delete2026-07-02
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deleteCamille Rochefort-Boulanger; Matthew Scicluna; Raphaël Poujol; Jean-Christophe Grenier; Pierre Luc Carrier; Sébastien Lemieux; Julie G. Hussin
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Linkage disequilibrium and allelic heterogeneity explain variation in coronary artery disease risk at 9p21 across populations and reduced effect in Africans
delete2026-07-01
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deleteHasan Alkhairo; Satoshi Koyama; Kruthika Iyer; Austin T. Hilliard; Pik Fang Kho; Shoa Clarke; Firdous M. Abdulwahab; Themistocles L. Assimes; Julie A. Lynch; Michèle Ramsay; Kyong-Mi Chang; Philip S. Tsao; Fowzan S. Alkuraya; Kaoru Ito; Neil Risch; Catherine Tcheandjieu
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Comparison of methods for assessing effects of risk factors on disease progression in Mendelian randomization under index event bias
delete2026-06-29
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deleteLinxuan Zhang; Ixavier Alonzo Higgins; Qile Dai; Apostolos Gkatzionis; Jocelyn Quistrebert; Nasir Bashir; Gopuraja Dharmalingam; Pallav Bhatnagar; Dipender Gill; Yushi Liu; Stephen Burgess
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Homologous recombination deficiency-driven genomic instability in ovarian cancer as an indicator of BRCA1 and BRCA2 variant pathogenicity
delete2026-06-23
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deleteSimon Schnaiter; Frédéric R. Santer; Katalin A. Csanaky; Louise Adel Jensen; Alain G. Zeimet; Kyriaki Michailidou; Amanda B. Spurdle; Mads Thomassen
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De novo variants in KDM2A cause a syndromic neurodevelopmental disorder
delete2026-01-01
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deleteAnderson, Eric N.; Drukewitz, Stephan; Kour, Sukhleen; Chimata, Anuradha, V; Rajan, Deepa S.; Schonnagel, Senta; Stals, Karen L.; Donnelly, Deirdre; O'sullivan, Siobhan; Mantovani, John F.; Tan, Tiong Y.; Stark, Zornitza; Zacher, Pia; Chatron, Nicolas; Monin, Pauline; Drunat, Severine; Vial, Yoann; Latypova, Xenia; Levy, Jonathan; Verloes, Alain; Carter, Jennefer N.; Bonner, Devon E.; Shankar, Suma P.; Bernstein, Jonathan A.; Cohen, Julie S.; Comi, Anne; Carere, Deanna Alexis; Dyer, Lisa M.; Mullegama, Sureni, V; Sanchez-Lara, Pedro A.; Grand, Katheryn; Kim, Hyung-Goo; Ben-Mahmoud, Afif; Gospe Jr, Sidney M.; Belles, Rebecca S.; Bellus, Gary; Lichtenbelt, Klaske D.; Oegema, Renske; Rauch, Anita; Ivanovski, Ivan; Mau-Them, Frederic Tran; Garde, Aurore; Rabin, Rachel; Pappas, John; Bley, Annette E.; Bredow, Janna; Wagner, Timo; Decker, Eva; Bergmann, Carsten; Domenach, Louis; Margot, Henri; Lemke, Johannes R.; Abou Jamra, Rami; Hentschel, Julia; Mefford, Heather; Singh, Amit; Pandey, Udai Bhan; Platzer, Konrad
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Low population penetrance of variants associated with inherited retinal degenerations
delete2026-01-01
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deleteZaslavsky, Kirill; Chen, Liyin; Park, Chloe; Place, Emily M.; Navarro-Gomez, Daniel; Zekavat, Seyedeh M.; Barile, Christopher F.; Bujakowska, Kinga M.; Rossin, Elizabeth J.; Pierce, Eric A.
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Transcriptome-wide outlier approach identifies individuals with minor spliceopathies
delete2025-09-19
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deleteTaylor M. Arriaga; Rodrigo Mendez; Rachel A. Ungar; Devon E. Bonner; Dena R. Matalon; Gabrielle Lemire; Pagé C. Goddard; Evin M. Padhi; Alexander M. Miller; Jonathan V. Nguyen; Jialan Ma; Kevin S. Smith; Stuart A. Scott; Linda Liao; Zena Ng; Shruti Marwaha; Guney Bademci; Stephanie A. Bivona; Mustafa Tekin; Jonathan A. Bernstein; Stephen B. Montgomery; Anne O’Donnell-Luria; Matthew T. Wheeler; Vijay S. Ganesh
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