American journal of human genetics最新文献

{"title":"Variants leading to ELAVL2 haploinsufficiency cause a neurodevelopmental disorder with prominent cognitive, behavioral, and neurological features.","authors":"Marina Boon, Meghan R Mulligan, Jolijn J A Verseput, Barbara Šakić, Pleuni Schreurs, Mireia Coll-Tané, Andrea Accogli, Emily Alderman, Taryn Athey, Cornelius Boerkoel, Antonella Boni, Roseline Caumes, Erica Gerkes, Sabine Haase, Sylvie Jaillard, Lauren Jeffries, Peter Kannu, Monica Konstantino, Jonathan Lévy, Anna Lokchine, Maarten Massink, Nadra Nasser Samra, Renske Oegema, Marcello Scala, Jolanda Schieving, Sarina Schwartzmann, Henrike Lisa Sczakiel, Thomas Smol, Pasquale Striano, Alain Verloes, Amber Begtrup, Rolph Pfundt, Barbara Franke, Marieke Klein, Annette Schenck, Louise S Bicknell, Bert B A de Vries","doi":"10.1016/j.ajhg.2026.07.007","DOIUrl":"10.1016/j.ajhg.2026.07.007","url":null,"abstract":"<p><p>RNA-binding proteins (RBPs) regulate gene expression, and a number of RBPs have been implicated in brain function and behavior. Here, we report 16 individuals with a neurodevelopmental disorder and de novo heterozygous variants in ELAVL2, encoding an RBP not previously linked to Mendelian disease. Thirteen individuals were identified through GeneMatcher. Their ELAVL2 variants include two structural, five nonsense, and six missense variants, supporting haploinsufficiency as the primary disease mechanism. The cohort presented with developmental delay, intellectual disability, autism spectrum disorder, seizures, sleep problems, sensory processing issues, emotional instability, and difficulty with socialization. Three additional variants (two missense and one terminal exon truncation), each previously reported in a different large cohort study, were also included for follow-up investigations. We provide multiple lines of evidence linking variants in ELAVL2 to the observed neurodevelopmental and behavioral phenotypes. First, we show that common genetic variants in ELAVL2 are significantly associated with intelligence, motor development, sleep-related traits, and sociability in the general population. Drosophila loss-of-function models provide further independent evidence for a conserved role in the regulation of seizure-like behavior, sensory processing, and sleep. Molecular studies confirm that some of the missense variants are deleterious, leading to decreased protein levels. Together, our integrative study combining Mendelian genetics, clinical and association studies, and animal and molecular modeling supports variants in ELAVL2 as a cause of a neurodevelopmental disorder, with haploinsufficiency as the disease mechanism, and identifies crucial roles of ELAVL2 in neuronal function, cognition, and behavior.</p>","PeriodicalId":7659,"journal":{"name":"American journal of human genetics","volume":" ","pages":"1853-1872"},"PeriodicalIF":7.7,"publicationDate":"2026-09-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148676870","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"This month in The Journal","authors":"Paul W. Hook,Alyson B. Barnes","doi":"10.1016/j.ajhg.2026.08.008","DOIUrl":"https://doi.org/10.1016/j.ajhg.2026.08.008","url":null,"abstract":"","PeriodicalId":7659,"journal":{"name":"American journal of human genetics","volume":"57 1","pages":""},"PeriodicalIF":9.8,"publicationDate":"2026-09-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148877388","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"All of Us Research Program year in review: 2025","authors":"Tara Dutka,Jennifer Adjemian,Hristina Denic-Roberts,Erika J. Faust,Elyse Kozlowski,Minnkyong Lee,Xia M. Lin,Grace F. Liou,Sana H. Mian,Nguyen Park,Katrina Theisz,Yanqin Yang,Geoffrey S. Ginsburg","doi":"10.1016/j.ajhg.2026.08.004","DOIUrl":"https://doi.org/10.1016/j.ajhg.2026.08.004","url":null,"abstract":"","PeriodicalId":7659,"journal":{"name":"American journal of human genetics","volume":"185 1","pages":""},"PeriodicalIF":9.8,"publicationDate":"2026-09-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148877390","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"CanVar-UK: A collaborative platform for germline interpretation in cancer susceptibility genes","authors":"Charlie F. Rowlands,Subin Choi,Sophie Allen,Zeid Kuzbari,Cankut Çubuk,Razvan Sultana,Beth Torr,Miranda Durkie,George J. Burghel,Rachel Robinson,Alison Callaway,Joanne Field,Bethan Frugtniet,Sheila Palmer-Smith,Jonathan Grant,Judith Pagan,Elizabeth Johnston,Trudi McDevitt,Lowri Hughes,Laura Yarram-Smith,Peter Logan,Laura Reed,Katie Snape,Terri McVeigh,Helen Hanson,Alice Garrett,Clare Turnbull,Clare Turnbull,Alice Garrett,Lucy Loong,Beth Torr,Charlie F. Rowlands,Sophie Allen,Zeid Kuzbari,Miranda Durkie,George J. Burghel,Rachel Robinson,Alison Callaway,Joanne Field,Bethan Frugtniet,Sheila Palmer-Smith,Jonathan Grant,Judith Pagan,Trudi McDevitt,Lowri Hughes,Elizabeth Johnston,Laura Yarram-Smith,Peter Logan,Laura Reed,Katie Snape,Terri McVeigh,Helen Hanson,Marc Tischkowitz,D. Gareth Evans,Fiona Lalloo,Shalaka Samant,Alex Murray,Angela Brady,Ramsay Bowden,Charlene Crosby,Charlotte Jenkins,Christopher Bowles,Dawn O'Sullivan,Deirdre Donnelly,Dhara Randhawa,Emer Atkinson,Fiona McRonald,Gillian Rea,Helen Williamson,Helena Calrey,James Tellez,Jennet Williams,Joanna Campbell,Joanna Tolmie,Joanne Mason,John Burn,Jonathan Callaway,Kevin Monahan,Kai Ren Ong,Karen Cadoo,Kezia Quigley,Kristina Stone,Lorainne Hawkes,Louise Izatt,Louise Kiely,Marion Bartlett,Martina Owens,Megan Carney,Miriam J. Smith,Munaza Ahmed,Nicola Roberts,Odette Middleton,Philip Dean,Philippa May,Rachel Harrison,Rachel Hart,Ruth Cleaver,Sabrina Talukdar,Samantha Ann Butler,Sean Hegarty,Tina Bedenham,Treena Cranston,Zoe Kemp,Clare Corbett,Esta Cross,Frances Ryan,Helen Lindsay,Jennie Dring,Sarah Shepherd,Zoe Allen,Rowena Mitchell,Inderjit Doal,Florentina Sava,Ciaran McCarthy,Ramanand Jeeneea,Ann-Britt Jones,Maureen Ramos,Donna Lobo,Jessica Gabriel,Bex Pleasance,Dushy Navarajasegaran,Anthony Bench,Patrick Wightman,Joshua Bott,Sally Thomas,Chloe Cassidy,Nina Orfali,Mary Edis,Phil Ostrowski,Aoife Dunne,Laura Freestone,Caroline Shak,Shona Borland,Jessica Willan,Oluwatosin Taiwo,Julita Jaudzemaite,Rubayet Sharmin,Louise Young,Eleanor Mortensson,Rachel Moore,Elisabeth Rolf,Daniel Wood,Jessie Sims,Ross Heron,Laura Elmhirst,Lampros Mavrogiannis,Lihui Wang,Amal Singh,Rachel Salmon,Georgia Thodi,Sin I. Chu,Mohamed Ukash,Victoria Steventon-Jones,Ciara Batterton,Gemma Baker,Leigh Jackson,Martin Slater,Kate Annesley,Andrea Western,Eleanor Phillips,Ellen Higgs,Matthew Gordon,Riyaad Aungraheeta,Rachel Price,Shaun Prior,Luke Redford,Amy Clarkson,Navodya Gamage,Sally Halsall,Robert Howie,Ryan Jeavons,Katrina Newland,Diana Walsh,Carryl Dryden,Emily McDermott,Mary Alikian,Lara Hawkes,Lucy Eastoe,Matthew Smith,Sunil Bagha,Victoria Malone,Lauren Silcock,Abbie Dell,Josh Grant,Ivan Oshea,Michael Coghlan,Jennifer Brisbane,Emily Jones,Rebecca Bastock,Diana Rios Szwed,Elizabeth Ratsma,Martyna Borak,Ghada Afifi,Laura Margetts,Lindsey Vialard,Nishath Hamza,Rebecca Haigh,Paula Scott,Fernanda Bulgheroni","doi":"10.1016/j.ajhg.2026.08.006","DOIUrl":"https://doi.org/10.1016/j.ajhg.2026.08.006","url":null,"abstract":"","PeriodicalId":7659,"journal":{"name":"American journal of human genetics","volume":"42 1","pages":""},"PeriodicalIF":9.8,"publicationDate":"2026-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148923498","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A highly prevalent lupus risk haplotype increases IRF7-dependent induction of IFN-α, enhancing antiviral defense and exacerbating autoimmunity","authors":"Samuel J. Virolainen,Kathryn Creighton,Maryam Dashtiahangar,Durga Krishnamurthy,Lois Parks,Carmy Forney,Britney Ampadu,Akshata N. Rudrapatna,Katelyn A. Dunn,Sreeja Parameswaran,Hayley K. Hesse,Xiaoting Chen,Andrew VonHandorf,Lee E. Edsall,Cailing Yin,Arthur Lynch,Olivia Gittens,Arame A. Diouf,Sydney H. Jones,Matthew Hass,Ellen Javier,Omer Donmez,Yasine Keddari,Oded Danzinger,Harsha Seelamneni,Bahram Namjou-Khales,Hannah C. Ainsworth,Mary E. Comeau,Miranda C. Marion,Stuart B. Glenn,Swapan K. Nath,Barry I. Freedman,Betty P. Tsao,Diane L. Kamen,Elizabeth E. Brown,Gary S. Gilkeson,Graciela S. Alarcón,John D. Reveille,Judith A. James,Lindsey A. Criswell,Luis M. Vilá,Marta E. Alarcón-Riquelme,Michelle Petri,R. Hal Scofield,Robert P. Kimberly,Rosalind Ramsey-Goldman,Sang-Cheol Bae,Deborah Cunninghame Graham,Timothy J. Vyse,Joel M. Guthridge,Patrick M. Gaffney,Carl D. Langefeld,Jennifer A. Kelly,Kenneth M. Kaufman,Kathy L. Sivils,John B. Harley,Nan Shen,Lucinda P. Lawson,Yuriy Baglaenko,Emily R. Miraldi,Brad R. Rosenberg,Trevor Siggers,Stephen N. Waggoner,Matthew T. Weirauch,Leah C. Kottyan","doi":"10.1016/j.ajhg.2026.08.016","DOIUrl":"https://doi.org/10.1016/j.ajhg.2026.08.016","url":null,"abstract":"","PeriodicalId":7659,"journal":{"name":"American journal of human genetics","volume":"40 1","pages":""},"PeriodicalIF":9.8,"publicationDate":"2026-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148923499","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Distinct cochlear cell types associated with genetic susceptibility to sensory and metabolic hearing loss in older adults","authors":"Samah Ahmed,Kenneth I. Vaden,Judy R. Dubno,Britt I. Drögemöller","doi":"10.1016/j.ajhg.2026.08.018","DOIUrl":"https://doi.org/10.1016/j.ajhg.2026.08.018","url":null,"abstract":"","PeriodicalId":7659,"journal":{"name":"American journal of human genetics","volume":"141 1","pages":""},"PeriodicalIF":9.8,"publicationDate":"2026-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148923500","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Exome analysis of 22,319 individuals links extremely rare copy-number variants and 22q11.21 dosage to Alzheimer risk","authors":"Olivier Quenez,Catherine Schramm,Kévin Cassinari,Aude Nicolas,Joan Groeneveld,Guillaume Huguet,Benjamin Grenier-Boley,Marc Hulsman,G. Bragi Walters,Itziar de Rojas,Anne Rovelet-Lecrux,Sébastien Feuillette,Laetitia Miguel,Anne-Claire Richard,Stéphane Rousseau,Shahzad Ahmad,Najaf Amin,Philippe Amouyel,Olivia Belbin,Céline Bellenguez,Claudine Berr,Paola Bossù,Femke Bouwman,Jose Bras,Jordi Clarimon,Antonio Daniele,Jean-François Dartigues,Stéphanie Debette,Jean-François Deleuze,Nicola Denning,Oriol Dols-Icardo,Cornelia M. van Duijn,Juan Fortea,Nick C. Fox,Ruth Frikke-Schmidt,Daniela Galimberti,Roberta Ghidoni,Vilmantas Giedraitis,Johan J.P. Gille,Detelina Grozeva,Rita Guerreiro,Edna Grünblatt,John Hardy,Steffi G. Riedel-Heller,Mikko Hiltunen,Clive Holmes,Jakub Hort,Holger Hummerich,M. Arfan Ikram,M. Kamran Ikram,Martin Ingelsson,Iris E. Jansen,Amit Kawalia,Robert Kraaij,Patrick G. Kehoe,Marc Lathrop,Morgane Lacour,Afina W. Lemstra,Alberto Lleó,Lauren Luckcuck,Marcel M.A.M. Mannens,Rachel Marshall,Carlo Masullo,Simon Mead,Patrizia Mecocci,Alexandre de Mendonça,Alun Meggy,Shima Mehrabian,Merel O. Mol,Kevin Morgan,Alexandre Morin,Benedetta Nacmias,Penny J. Norsworthy,Robert Olaso,Florence Pasquier,Pau Pastor,Fabrizio Piras,Julius Popp,Alfredo Ramirez,Rachel Raybould,Richard Redon,Marcel J.T. Reinders,Fernando Rivadeneira,Jeroen G.J. van Rooij,Natalie S. Ryan,Salha Saad,Pascual Sanchez-Juan,Nikolaos Scarmeas,Philip Scheltens,Jonathan M. Schott,Davide Seripa,Daoud Sie,Rebecca Sims,Erik A. Sistermans,Sandro Sorbi,Kristel Sleegers,Resie van Spaendonk,John C. van Swieten,Niccolo’ Tesi,Betty M. Tijms,Magda Tsolaki,André G. Uitterlinden,Jort Vijverberg,Pieter Jelle Visser,Michael Wagner,Julie Williams,Aline Zarea,EADB Consortium,Emmanuelle Génin,Henne Holstege,Daniel F. Gudbjartsson,David Wallon,Magalie Lecourtois,Maria Victoria Fernandez,Hreinn Stefansson,Sébastien Jacquemont,Jean-Charles Lambert,Sven J. van der Lee,Camille Charbonnier,Gaël Nicolas","doi":"10.1016/j.ajhg.2026.07.013","DOIUrl":"https://doi.org/10.1016/j.ajhg.2026.07.013","url":null,"abstract":"Copy-number variants (CNVs) are major contributors to human disease. In Alzheimer disease (AD), APP duplications cause autosomal-dominant forms, but the role of CNVs in non-monogenic AD remains poorly characterized. We analyzed rare CNVs (frequency <1%) from 22,319 exomes (4,150 early-onset AD [EOAD, ≤65 years], 8,519 late-onset AD [LOAD], 9,650 unaffected control subjects) using harmonized calling and quality control. After identifying 17 individuals with a pathogenic CNV, we performed exome-wide and gene-set burden analyses. EOAD-affected individuals showed increased burdens of rare CNVs affecting coding genes, particularly deletions in AD-related genes. Integrated loss-of-function (LoF) analysis gathering short truncating variants with deletions showed that ABCA1 (odds ratio [OR] = 5.77 [95% confidence interval 2.25; 17.06], p = 0.0002) and ABCA7 deletions contribute to this deletion burden (OR = 2.29 [1.44; 3.65], p = 0.0006), while CTSB LoF alleles appear as candidates (OR = 5.03 [1.50; 20.71], p = 0.0089). We then performed exome-wide gene-level dosage analysis and highlighted 18 genes across five loci with a false discovery rate of <10%, including the 22q11.21 central region, where deletions were restricted to EOAD (including one de novo event) and duplications were enriched in control individuals, with intermediate frequencies in LOAD. We narrowed this locus to the SCARF2-KLHL22-MED15 region after integrating short truncating variants. Replication in 33,977 affected individuals and 362,322 control subjects confirmed association for 22q11.21 dosage with exome-wide significance (ORSCARF2 = 0.34 [0.21; 0.53]; mega-p value = 5.52 × 10−7). SCARF2 overexpression significantly increased amyloid-β uptake, congruent with duplication-associated decreased AD risk. We conclude that rare coding CNVs in a proportion of AD-associated genes and 22q11.21 deletions, including some found in DiGeorge syndrome, increase AD risk. Conversely, we identify 22q11.21 duplication as a strong AD-risk-decreasing factor.","PeriodicalId":7659,"journal":{"name":"American journal of human genetics","volume":"13 1","pages":""},"PeriodicalIF":9.8,"publicationDate":"2026-08-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148821586","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Shared genetic basis and structure of syndromic and normal facial variation","authors":"J. 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","doi":"10.1016/j.ajhg.2026.07.014","DOIUrl":"https://doi.org/10.1016/j.ajhg.2026.07.014","url":null,"abstract":"The question of how gene mutations of large effect and common variants of small effect relate to phenotypic variation dates from the origins of genetics. Mendelian diseases result from rare germline variants with major effects, while complex traits are associated with multiple, mostly common variants of small effect. High-dimensional phenotypes, such as facial shape, can shed new light on this age-old dichotomy, as their variation can be characterized in terms of directions in multivariate morphospace. Within such spaces, do Mendelian disease mutations move phenotypes along the same directions as common variants, or do they forge new directions that diverge from the common structure of background variation? Here, we analyze facial shape variation for 66 syndromes, quantify multivariate axes of facial shape variation for each syndrome, and test whether common genetic variants in cohorts of non-syndromic subjects are associated with phenotypic position along these same axes. We find that syndromic facial shape generally follows the background variance-covariance structure of facial shape in the general population. Furthermore, syndromic probands’ unaffected relatives have subtle facial morphology resembling the syndromes of their affected relatives. These results suggest that Mendelian disease variants act on facial shape in ways similar to common variants. Syndromic probands with higher “severity” likely occur on genetic backgrounds with higher cumulative severity of common variants for each syndromic axis. These findings position Mendelian diseases at extremes along phenotypic continua that exist in the background population rather than as qualitatively different phenotypes distinct from the overall structure of normal human phenotypic variation.","PeriodicalId":7659,"journal":{"name":"American journal of human genetics","volume":"64 1","pages":""},"PeriodicalIF":9.8,"publicationDate":"2026-08-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148768870","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Overlapping Xp21.2 duplications define an X-linked hypotrichosis simplex and implicate TAB3 dosage sensitivity","authors":"Qiaoyu 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","doi":"10.1016/j.ajhg.2026.08.009","DOIUrl":"https://doi.org/10.1016/j.ajhg.2026.08.009","url":null,"abstract":"","PeriodicalId":7659,"journal":{"name":"American journal of human genetics","volume":"15 1","pages":""},"PeriodicalIF":9.8,"publicationDate":"2026-08-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148754745","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Examining gaps in institutional policies for clinical genomic data sharing: A cross-jurisdictional study","authors":"Zhaoping Ju, Yunhe Xue, Abby Rud, Juliann M. Savatt, Jordan Lerner-Ellis, Heidi L. Rehm, Yann Joly, Diya Uberoi","doi":"10.1016/j.ajhg.2026.07.012","DOIUrl":"https://doi.org/10.1016/j.ajhg.2026.07.012","url":null,"abstract":"","PeriodicalId":7659,"journal":{"name":"American journal of human genetics","volume":"5 1","pages":""},"PeriodicalIF":9.8,"publicationDate":"2026-08-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148754751","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}