The American Journal of Human Genetics

1873-1893

01.09.2026

Systematic and proactive evaluation of AIRE missense variant effects

Anna Axakova, Amund H. Berger, Warren van Loggerenberg, Nishka Kishore, Marinella Gebbia, Megan X. Ding, Samuel V. Douville, Daniel R. Tabet, Atina G. Cote, Jochen Weile, Stefan Johansson, Eirik Bratland, Frederick P. Roth

1929-1945

01.09.2026

Distinct mutational landscapes for germline and somatic cancer variants in forty tumor suppressor genes

Suhasini D. Lulla, Deborah I. Ritter, Chimene Kesserwan, Sharon E. Plon

1801-1811

01.09.2026

Examining gaps in institutional policies for clinical genomic data sharing: A cross-jurisdictional study

Zhaoping Ju, Yunhe Xue, Abby Rud, Juliann M. Savatt, Jordan Lerner-Ellis, Heidi L. Rehm, Yann Joly, Diya Uberoi

1916-1928

01.09.2026

Shared inheritance reveals landscape of somatic and germline cancer risk in TP53

Hamish A.J. MacGregor, Jamie R. Blundell, Douglas F. Easton

1781-1787

01.09.2026

All of Us Research Program year in review: 2025

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

1812-1831

01.09.2026

Long-read transcriptome analysis using IsoRanker for identifying pathogenic variants in Mendelian conditions

Yong-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, Anne O’Donnell-Luria, Andrew B. Stergachis

2021

01.09.2026

Overlapping Xp21.2 duplications define an X-linked hypotrichosis simplex and implicate TAB3 dosage sensitivity

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

2001-2020

01.09.2026

Anthropometric and cardio-metabolic trait variation and genetic associations in sub-Saharan Africa

Matthew E.B. Hansen, Ujani Hazra, Michelle Kim, Srilakshmi M. Raj, Shaohua Fan, William Beggs, Sunungouko Wata Mpoloka, Gaonyadiwe George Mokone, Thomas Nyambo, Dawit Wolde Meskel, Gurja Belay, Jibril Hirbo, Alessia Ranciaro, Joseph Lachance, Sarah A. Tishkoff

1987-2000

01.09.2026

Shared genetic basis and structure of syndromic and normal facial variation

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

1779-1780

01.09.2026

This month in The Journal

Paul W. Hook, Alyson B. Barnes

1788-1800

01.09.2026

The Gabriella Miller Kids First Data Resource for genomic research in pediatric cancer and congenital anomalies

David 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

1972-1986

01.09.2026

A phenotypic paradigm for cerebral palsy genetics

Adam S. Arterbery, Michael A. Gargano, Anita Bagley, Jagadish Chandrabose Sundaramurthi, Lauren Rekerle, Thania Ordaz-Robles, Daniel Danis, Adam S.L. Graefe, Ana L. Arenas-Díaz, Jeremy P. Bauer, Hannah Blau, Leigh Carmody, Kristen I. Carroll, Janice Davis, Philip F. Giampietro, Anxhela Gjyshi Gustafson, Monserat Hernandez, Julius O.B. Jacobsen, Paige Lemhouse, David Millet, Shubhra Mukherjee, Patrick S. Nairne, Emily Nice, Talia Plotkin, Kenneth Powell, Lukas Ramlow, Ellen M. Raney, Mallory Shingle, Damian Smedley, Peter A. Smith, Demiana A. Soliman, David E. Westberry, Jon R. Davids, Peter N. Robinson

1946-1971

01.09.2026

Androgens mediate sexual dimorphism in Pilarowski-Bjornsson syndrome

Kimberley Jade Anderson, Eirny Tholl Thorolfsdottir, Ilana M. Nodelman, Sara Tholl Halldorsdottir, Stefania Benonisdottir, Malak A. Alghamdi, Naif A.M. Almontashiri, Brenda J. Barry, Matthias Begemann, Jacquelyn F. Britton, Sarah Burke, Benjamin Cogne, Ana S.A. Cohen, Carles de Diego Boguñá, Evan E. Eichler, Elizabeth C. Engle, Jill A. Fahrner, Laurence Faivre, Mélanie Fradin, Nico Fuhrmann, Christine W. Gao, Gunjan Garg, Dagmar Grečmalová, Mina Grippa, Jacqueline R. Harris, Kendra Hoekzema, Tova Hershkovitz, Sydney Hubbard, Katrien Janssens, Julie A. Jurgens, Stanislav Kmoch, Cordula Knopp, Meral Aktas Koptagel, Farah A. Ladha, Pablo Lapunzina, Tobias Lindau, Marije Meuwissen, Andreina Minicucci, Emily Neuhaus, Mathilde Nizon

1853-1872

01.09.2026

Variants leading to ELAVL2 haploinsufficiency cause a neurodevelopmental disorder with prominent cognitive, behavioral, and neurological features

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

1832-1852

01.09.2026

Cell villages and Dirichlet modeling map human cell fitness genetics

Chloe 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

1894-1915

01.09.2026

RNA splicing evidence enables robust classification of BRCA1 exon 18 variants: Results from the ENIGMA consortium

Joanna Domènech-Vivó, Hélène Tubeuf, Romy L.S. Mesman, Aurelie Drouet, Mélanie Girardi, María Concepción Alonso-Cerezo, Diana Baralle, Nadia Boutry-Kryza, David J. Bunyan, Helen J. Byers, Sandrine M. Caputo, Kathleen B.M. Claes, Miguel De la Hoya, D. Gareth Evans, Laure Frésard, Sophie Krieger, Conxi Lázaro, Mélanie Leone, Eva Macháčková, Mireia Menéndez, Alejandro Moles-Fernández, Gemma Montalban, Erin Mundt, Marcy E. Richardson, Elke M. Van Veen, Jamie Weyandt, Judith Balmaña, Amanda B. Spurdle, Orland Diez, Maaike P.G. Vreeswijk, Alexandra Martins, Sara Gutiérrez-Enríquez

ePub

01.09.2026

Distinct cochlear cell types associated with genetic susceptibility to sensory and metabolic hearing loss in older adults

Samah Ahmed, Kenneth I. Vaden, Judy R. Dubno, Britt I. Drögemöller

ePub

01.09.2026

Phenome- and laboratory-wide meta-analyses of sickle cell trait reveal multi-system disease associations

Micah 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

ePub

01.09.2026

Monoallelic loss-of-function variants in ZNF536 are associated with a neurodevelopmental disorder with prominent behavioral features

Susan M. Hiatt, Wenjing Zhao, Zhongqing Wang, Yingjie Wan, Kewen Chen, Ke Wang, Senwei Tan, Magalie Barth, Gaber Bergant, Thomas Besnard, Emily Boothe, Theresa Brunet, Caleb Bupp, Benjamin Cogne, Julie S. Cohen, Christine Coubes, Bert B.A. de Vries, Madison Donald, Colin A. Ellis, Stephanie Riley Eriksson, Benjamin Ganne, David Genevieve, Benedicte Gerard, Aixa Gonzalez Garcia, Laura G. Hendon, Noa Henig, Kristina Huss, Bertrand Isidor, Taylor Laut, Benjamin R. Leadem, Elysa J. Marco, Daphna Marom, Saadet Mercimek-Andrews, Alison M. Muir, Benjamin Navet, Slavica Ostojić, Borut Peterlin, Rolph Pfundt, Anna Prentice, Clement Prouteau

ePub

01.09.2026

Functional characterization of the 9q34.13 locus identifies RAPGEF1 as a candidate gene modulating risk for melanoma and nevi via RAS activation

Rohit Thakur, Mai Xu, Alexandra M. Thornock, Joshuah Yon, Samuel Anyaso-Samuel, Martin Lauss, Thomas Rehling, Linh Bui-Raborn, Hayley Sowards, Gerard Duncan, Lea Jessop, Timothy Myers, Raj Chari, Erping Long, Karen Funderburk, Jinhu Yin, Rebecca Hennessey, Emory Hsieh, Hannah Levin, Mitchell J. Machiela, Tongwu Zhang, Göran Jönsson, D. Timothy Bishop, Julia Newton-Bishop, Jeremie Nsengimana, Mark M. Iles, Maria Teresa Landi, Matthew H. Law, Thorkell Andresson, Jiyeon Choi, Leonard I. Zon, Jianxin Shi, Kevin M. Brown

ePub

01.09.2026

Beyond exons: Linking noncoding heritability and polygenicity across complex human traits and disorders

Julian 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

ePub

01.09.2026

A highly prevalent lupus risk haplotype increases IRF7-dependent induction of IFN-α, enhancing antiviral defense and exacerbating autoimmunity

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

ePub

01.09.2026

Mutation rate heterogeneity biases variant effect prediction and reveals genuine mutational robustness

Hossameldin Loay, Prathitha Kar, Evan Koch, Vladimir Seplyarskiy, Donate Weghorn

ePub

01.09.2026

CanVar-UK: A collaborative platform for germline interpretation in cancer susceptibility genes

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, Lucy Loong, 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

ePub

01.08.2026

Exome analysis of 22,319 individuals links extremely rare copy-number variants and 22q11.21 dosage to Alzheimer risk

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

1774-1775

01.08.2026

Response to Quinodoz and Leroy

Kirill 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

1771-1773

01.08.2026

Reply to Zaslavsky et al.

Mathieu Quinodoz, Bart P. Leroy

1618-1629

01.08.2026

Additive value of polygenic risk and family history for coronary heart disease risk stratification in two diverse US cohorts

Mohammadreza Naderian, Johanna L. Smith, Ozan Dikilitas, Marwan E. Hamed, Noura S. Abul-Husn, John J. Connolly, Josh B. Cortopassi, Qiping Feng, Sarah C. Hanks, Ryan Irvin, Gail P. Jarvik, Eimear E. Kenny, Atlas Khan, Leah C. Kottyan, Nita A. Limdi, Elizabeth M. McNally, Emily Miller, Bahram Namjou-Khales, Megan Roy-Puckelwartz, Robb Rowley, Hemant K. Tiwari, Wei-Qi Wei, Georgia Wiesner, Teri A. Manolio, Richard R. Sharp, Iftikhar J. Kullo

1776-1777

01.08.2026

Bi-allelic variants in the non-protein-coding minor spliceosome components RNU6ATAC and RNU4ATAC cause syndromic monogenic autoimmune diabetes

Matthew 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

1736-1753

01.08.2026 · 1 Zitationen

Position effect at the SOX3 locus by an interchromosomal insertion causes hereditary spastic paraplegia

Thorkild 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, Asan, Thomas Thelle, Mette Nyegaard, Rasmus O. Bak, Mark Denham, Malte Spielmann, Uffe Birk Jensen

1585-1603

01.08.2026

Allele frequency trajectories across age groups reveal ongoing natural selection shaping disease susceptibility

Jing-Lian Chen, Mei-Ling Kang, Cheng-Jui Lin, Yun-Hua Lo, Yann-Jang Chen, Hsiao-Hui Lee, Valis Tanapima, Chao-Kuang Lin, I-Hui Lee, Yoko Satta, Wen-Ya Ko

1754-1761

01.08.2026

Bi-allelic variants in CDK20 cause a severe ciliopathy with midline brain and facial anomalies

Gabrielle 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

1665-1678

01.08.2026

Transforming blood-derived episignatures into cell-type-agnostic classifiers: A shortcut to prenatal episignatures

Nikola 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

1604-1617

01.08.2026

Mismapping of sequencing reads from polymorphic duplications generates spurious trans-eQTLs

Alber Aqil, Betty Y.H. Huang, Pavlos Pavlidis, Rajiv C. McCoy, Omer Gokcumen

1691-1718

01.08.2026

Clinical, in vitro, and in vivo evidence of WAPL as a cohesinopathy-associated gene and phenotypic driver of 10q22.3q23.2 genomic disorder

Philip 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, Madison J. McCune, Michael A. Levy, Julia Grafstein, Matthew Larson, Zsabre Wright, Roberta L. Beauchamp, Diane Lucente, Rami Abou Jamra, Neena Agrawal, Pankaj B. Agrawal, Erica F. Andersen, Emanuela Argilli, Renee Araiza, Sonia Ballal, Megan F. Baxter, Gaber Bergant, Astrid Bertsche, Riya Bhavsar, Debora R. Bortola, Viktoria Bothe

1630-1645

01.08.2026

Linkage disequilibrium and allelic heterogeneity explain variation in coronary artery disease risk at 9p21 across populations and reduced effect in Africans

Hasan 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

1719-1735

01.08.2026

Overlapping Xp21.2 duplications define an X-linked hypotrichosis simplex and implicate TAB3 dosage sensitivity

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

1646-1664

01.08.2026

Genome-wide association study and predictors of neonatal blood cell traits in Hispanic newborns

Yunqi Li, Benjamin Alonzo, Zixuan E. Zhang, Jalen Langie, Swe Swe Myint, Michaela Ince, Rong Lu, Charleston W.K. Chiang, Steven Gazal, Nicholas Mancuso, Linda Kachuri, Adam J. de Smith

1679-1690

01.08.2026

Likelihood-based calibration improves the clinical utility of JAG1 functional data for variant classification

Tristan J. Hayeck, Christopher J. Sottolano, Justin J. Blair, Markos N. Xenakis, Nancy B. Spinner, Melissa A. Gilbert

1583-1584

01.08.2026

This month in The Journal

Paul W. Hook, Alyson B. Barnes

1762-1770

01.08.2026

Landscape of parental postzygotic mutations across >11,000 rare disease trios

O. 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

1372-1380

01.07.2026

Deciding “what” to screen for and “when”: The importance of natural history information

Jahnelle Jackson, Jonathan S. Berg

1578-1581

01.07.2026

Bi-allelic missense variants in human GPN2 result in Perrault syndrome

Thomas B. Smith, Rabia Faridi, Leigh A.M. Demain, Sayaka Inagaki, Yasuko Ishibashi, Huw B. Thomas, Inna A. Belyantseva, Alessandro Rea, King Lam Lai, Arshia Maqbool, Bushra Rauf, Muhammad Asad Usmani, Alejandro A. Schäffer, Robert J. Morell, Andrew Green, Sondhya Ghedia, Mathilda Wilding, Robin Hay, Yuliya Sokolova, Gavin P. Riordan, Isabelle Schrauwen, Khurram Liaqat, Saima Riazuddin, Zubair M. Ahmed, Wade W. Chien, Langping He, Amanda McGovern, Helen Byers, Glenda M. Beaman, Wasim Ahmad, Suzanne M. Leal, Robert W. Taylor, Sheikh Riazuddin, Raymond T. O’Keefe, Thomas B. Friedman, William G. Newman

1365-1366

01.07.2026

This month in The Journal

Paul W. Hook, Alyson B. Barnes

1521-1542

01.07.2026

Integrative analysis of gastric tissue transcriptomes and gastric cancer GWAS implicates candidate susceptibility genes

Beiping 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, Xianyong Yin, Meng Zhu, Lu Wang, Yue Jiang, Jiaping Chen, Juncheng Dai, Hongxia Ma, Yanbing Ding, Caiwang Yan, Guangfu Jin

1448-1460

01.07.2026 · 1 Zitationen

DiscoDivas: Leveraging genetic-ancestry continuum information to interpolate PRS for admixed populations

Yunfeng Ruan, Rohan Bhukar, Aniruddh Patel, Satoshi Koyama, Leland Hull, Buu Truong, So Mi Cho, Whitney Hornsby, Haoyu Zhang, Nilanjan Chatterjee, Pradeep Natarajan

1570-1577

01.07.2026 · 1 Zitationen

Homologous recombination deficiency-driven genomic instability in ovarian cancer as an indicator of BRCA1 and BRCA2 variant pathogenicity

Simon Schnaiter, Frédéric R. Santer, Katalin A. Csanaky, Louise Adel Jensen, Alain G. Zeimet, Kyriaki Michailidou, Amanda B. Spurdle, Mads Thomassen

1434-1447

01.07.2026 · 1 Zitationen

Integrating social determinants of health and genetic risk in disease risk models

Abhijith Biji, Kathleen Ferar, Vikas Pejaver, Eimear E. Kenny, Bian Liu, Samira Asgari

1461-1477

01.07.2026

A transparent and generalizable deep-learning framework for genomic ancestry prediction

Camille Rochefort-Boulanger, Matthew Scicluna, Raphaël Poujol, Jean-Christophe Grenier, Pierre Luc Carrier, Sébastien Lemieux, Julie G. Hussin

1495-1508

01.07.2026

Identifying condition-related cell-cell communication events using supervised tensor analysis

Qile Dai, Jingjing Yang, Michael P. Epstein

1558-1569

01.07.2026

Bi-allelic loss-of-function variants in TMEM63B cause syndromic surfactant dysfunction disorder

Sock Hoai Chan, Audra N. Iness, Jill A. Rosenfeld, Mir Reza Bekheirnia, Lindsay C. Burrage, Matthew Hoi Kin Chau, Chaerish Eint Myet Chae Htoo, Eric C. Kao, Shamika Ketkar, Wan Wan Lim, Xi Luo, Rifhan Mazlan, Elizabeth Mizerik, Kein Seong Mun, Kalyani R. Patel, Lorraine Potocki, Christina K. Rapp, Xavier Roca, Ana Saianda, Ignacio Iglesias-Serrano, Everlyn C. Siew, Donald Yuhui Sim, David R. Spielberg, Sok-Kun Tae, Jing Xian Teo, Julian Warfsmann, Fan Xia, Saumya S. Jamuar, Ee Shien Tan, Matthias Griese, Weng Khong Lim, Meow-Keong Thong, Keren Machol

1543-1557

01.07.2026

De novo variants in LDB1 are linked to distinct neurodevelopmental phenotypes determined by variant location and differing pathomechanisms

Rebecca Fluri, Mireia Coll-Tané, Theresa Brunet, Benjamin Cogne, Solene Conrad, Mathilde Nizon, Francesco Nicita, Lorena Travaglini, Antonio Novelli, Margie Glissmeyer, Amanda Peterson, Jillian G. Buchan, Dan Serber, Kolja Meier, Jutta Gärtner, Susann Diegmann, Veronique Pingault, Tania Attie-Bitach, Thomas Courtin, Michael C. Schneider, Wing Hung, Inderneel Sahai, Lauren O’Grady, Katharina Steindl, Sarju G. Mehta, Christel Depienne, Delphine Heron, Boris Keren, Solveig Heide, Shane McKee, Franco Laccone, Lisa M. Dyer, Catherine Melver, Connie Motter, Wendy D. Jones, Zoey Trueblood Wilson, Divya Vats, Kristina Huß, Christiane Zweier, Heinrich Sticht

1381-1398

01.07.2026 · 2 Zitationen

Complete chromosome 21 centromere sequencing of families with Down syndrome

F. Kumara Mastrorosa, Alessia Daponte, Luciana de Gennaro, Shu-Cheng Chuang, Jiadong Lin, Yang Sui, David Porubsky, Keisuke K. Oshima, Julie Wertz, Allison N. Rozanski, William T. Harvey, Yanni Wang, Tiffany Y. Leung, Daniel D. Chan, Weiya He, Jordan Knuth, Gage H. Garcia, Marcelo Ayllon, Katherine M. Munson, Kendra Hoekzema, Peter M. Lansdorp, Claudia Rita Catacchio, Mario Ventura, Stephanie L. Sherman, Emily G. Allen, Tracie C. Rosser, Glennis A. Logsdon, Evan E. Eichler

1415-1433

01.07.2026

Individuals who deviate from polygenic expectation are enriched for damaging variants in genes linked to rare disease

Nikolas A. Baya, Frederik H. Lassen, Barney Hill, Samvida S. Venkatesh, Hannah Currant, Cecilia M. Lindgren, Duncan S. Palmer

1509-1520

01.07.2026

Genome-wide analysis implicates inner ear development in Ménière disease

Zhuozheng Shi, Ravi Mandla, Jingjing Li, Xinzhe Li, Zixuan (Eleanor) Zhang, Sixing Chen, Sandra Lapinska, Alexander O. Flynn-Carroll, Bogdan Pasaniuc, Douglas J. Epstein, Iain Mathieson

1367-1371

01.07.2026

Trust, mistrust, and the promise of AI in genomics for African populations

Amadou Gaye, Vence L. Bonham, Tesfaye B. Mersha

1478-1494

01.07.2026 · 1 Zitationen

Comparison of methods for assessing effects of risk factors on disease progression in Mendelian randomization under index event bias

Linxuan Zhang, Ixavier Alonzo Higgins, Qile Dai, Apostolos Gkatzionis, Jocelyn Quistrebert, Nasir Bashir, Gopuraja Dharmalingam, Pallav Bhatnagar, Dipender Gill, Yushi Liu, Stephen Burgess

1399-1414

01.07.2026

Data-driven RNA phenotyping captures genetically regulated dimensions of the transcriptome

Daniel Munro, Alexander Gusev, Abraham A. Palmer, Pejman Mohammadi

1357-1363

01.06.2026 · 1 Zitationen

HiFi sequencing accurately identifies clinically relevant variants in paralogous genes

Bart van der Sanden, Christian Betz, Katharina Herzog, Esther Schamschula, Katharina Wimmer, Inga Vater, Saranya Balachandran, Xiao Chen, Jordi Corominas Galbany, Raoul Timmermans, Ronny Derks, Malte Spielmann, Michael A. Eberle, Christian Gilissen, Lisenka E.L.M. Vissers, Johannes Zschocke, Hanno J. Bolz, Alexander Hoischen

1125-1126

01.06.2026

This month in The Journal

Paul W. Hook, Alyson B. Barnes

1168-1174

01.06.2026

Guidance on communication and informed consent with patients and their families for experimental individualized treatments

Annemieke Aartsma-Rus, Claudio M. de Gusmao, Scott Demarest, Matias Wagner, Georg Marckmann, Charlotte Kogel, Roseline Favresse, Rebecca Schuele, Matthis Synofzik, Holm Graessner, Lynn Bush, Timothy W. Yu

1253-1278

01.06.2026 · 1 Zitationen

Integrative genomics and single-cell CRISPRi screening dissect Alzheimer GWAS non-coding variants regulating TSPAN14

Shannon Laub, Natalia Tulina, Matthew Hoffman, Joe Bormeh Faryean, Sandhya Ramachandran, Khanh Trang, Stephanie M. Lewkiewicz, Alessandra Chesi

1159-1167

01.06.2026

Navigating data sharing in research

Anna C.F. Lewis, Ellen W. Clayton, Hana Bangash, Harris T. Bland, Katherine E. Bonini, James J. Cimino, John J. Connolly, Robert R. Freimuth, Stephanie M. Fullerton, Hakon Hakonarson, Ingrid A. Holm, Gail P. Jarvik, Atlas Khan, Krzysztof Kiryluk, Jodell E. Linder, Yuan Luo, John A. Lynch, Kathleen F. Mittendorf, Jennifer A. Pacheco, Luke V. Rasmussen, Susannah L. Rose, Robb Rowley, Richard R. Sharp, Theresa L. Walunas, Wei-Qi Wei, Chunhua Weng, Maya Sabatello

1330-1346

01.06.2026

Meta-analysis across six global biobanks identifies recessive coding associations with complex traits and diseases

Frederik H. Lassen, Georgios Kalantzis, Andrea Eoli, Barney Hill, Kyuto Sonehara, Shinichi Namba, Isaac Wade, Sam Hodgson, Wei Zhou, Benjamin M. Neale, Konrad J. Karczewski, Yukinori Okada, David A. van Heel, Sarah Finer, Cecilia M. Lindgren, Henrike O. Heyne, Hilary C. Martin, Duncan S. Palmer

1279-1296

01.06.2026 · 1 Zitationen

Multi-ancestry transcriptome-wide association study reveals shared and population-specific genetic effects in Alzheimer disease

Xinyu Sun, Makaela Mews, Nicholas R. Wheeler, Penelope Benchek, Tianjie Gu, Lissette Gomez, Nicholas Ray, Christiane Reitz, Adam C. Naj, Jennifer Elizabeth Below, Giuseppe Tosto, Mario Cornejo-Olivas, Goldie S. Byrd, Briseida E. Feliciano-Astacio, Katrina Celis, Farid Rajabli, Brian W. Kunkle, Margaret A. Pericak-Vance, Jonathan L. Haines, Anthony J. Griswold, William S. Bush

1127-1130

01.06.2026

Patricia A. Jacobs (1934–2026)

S. Ennis, S.L. Sherman, T.J. Hassold, P.A. Hunt, J.A. Crolla

1297-1318

01.06.2026 · 2 Zitationen

A phenome-wide association study of CNVs genotyped from genome sequencing read depth in the UK Biobank

Paras Garg, Bharati Jadhav, Mariya Shadrina, Alejandro Martin-Trujillo, Andrew J. Sharp

1347-1356

01.06.2026 · 1 Zitationen

Principled measures and estimates of trait polygenicity

Luke J. O’Connor, Guy Sella

1233-1252

01.06.2026

A next-generation episignature for Kabuki syndrome enables fine mapping of the impact of KMT2D variants to inform precision medicine

Mengqi Wang, Shaimaa Helal, Arteen Torabi-Marashi, Sarah Goodman, Prajkta Kallurkar, Tina K. Truong, Emma Mizrahi-Powell, Gilad D. Evrony, Inara Chacon-Fonseca, Irene Valenzuela Palafoll, Peter Kannu, Amélie Piton, David Chitayat, Cornelius F. Boerkoel, Robert Mendoza-Londono, Juan Dario Ortigoza-Escobar, Michael Kwint, Dmitrijs Rots, Tjitske Kleefstra, Monica H. Wojcik, Stephen W. Scherer, Brian Hon-Yin Chung, Jung Min Ko, Hans T. Bjornsson, Jacqueline R. Harris, Sanaa Choufani, Rosanna Weksberg

1175-1193

01.06.2026

Signatures of pathogen-driven selection and Austronesian gene flow of Papua New Guinea HLA alleles

Neus Font-Porterias, Neda Nemat-Gorgani, Katherine M. Kichula, Dana R. Al-Hindi, Genelle F. Harrison, Sudan Tao, Faming Zhu, Gonzalo Montero-Martin, Marcelo A. Fernández-Viña, Lisbeth A. Guethlein, Peter Parham, Stephen J. Oppenheimer, Alexander G. Ioannidis, Andrés Moreno-Estrada, William Pomat, Alexander J. Mentzer, Brenna M. Henn, Paul J. Norman

1364

01.06.2026

Genetics of skeletal proportions across two different populations

Eric Bartell, Kuang Lin, Kristin Tsuo, Wei Gan, Sailaja Vedantam, Joanne B. Cole, John M. Baronas, Loic Yengo, Eirini Marouli, Tiffany Amariuta, Zhengming Chen, Liming Li, Nora E. Renthal, Christina M. Jacobsen, Rany M. Salem, Robin G. Walters, Joel N. Hirschhorn

1214-1232

01.06.2026 · 1 Zitationen

Monoallelic PSMB8 variants cause PRAAS with immunodeficiency through impaired immunoproteasome assembly

Robin Wijngaard, Caspar I. van der Made, Sema Kalkan Uçar, Gayatri Ramakrishnan, Man Wang, Johannes Brand, Jill A. Rosenfeld, Tiphanie P. Vogel, Sarah K. Nicholas, Monika Weisz-Hubshman, Clara D.M. van Karnebeek, Eric J. Allenspach, Taylor E. Gardiner, Sumudu Perera Kimmantudawage, Zornitza Stark, Ruth K. Armstrong, Janine Campbell, Stefano Volpi, Enrico Drago, Marco Gattorno, Alice Grossi, Isabella Ceccherini, Alfredo Cabrera-Orefice, Bente Siebels, Thomas Mair, Hartmut Schlüter, Ruben L. Smeets, Ronald van Beek, Ingrid Goebel, Katrin Küchler, Søren W. Gersting, Alexander Hoischen, Lisenka E.L.M. Vissers, Ron A. Wevers, Catherine Meyer-Schwesinger, Saskia B. Wortmann, Machteld M. Oud, Sergio Guerrero-Castillo

1194-1213

01.06.2026 · 1 Zitationen

MARRVEL-MCP: An agentic interface for Mendelian disease discovery via tool-augmented context engineering

Zachary Everton, Jorge Botas, Seon Young Kim, Lin Yao, Zhandong Liu, Hyun-Hwan Jeong

1319-1329

01.06.2026 · 1 Zitationen

Neurodevelopmental copy-number variants increase risk of internalizing and cardiometabolic multimorbidity: Findings from the UK Biobank

Ioanna K. Katzourou, Marianne B.M. van den Bree, George Kirov, Michael J. Owen, James T.R. Walters, Peter A. Holmans, Jane Lynch, Jack F.J. Underwood, David A. van Heel, Sarah Finer, Daniel Stow, Golam M. Khandaker, Nicholas J. Timpson, John A.A. MacLeod, Julie P. Clayton, Ruby S.M. Tsang, Jane Sprackman, Shahid Khan, Inês Barroso, Rupert A. Payne, Mark Mon-Williams, Megan L. Wood, Nabila Ali, Hilary C. Martin, Thomas Werge, Andrés Ingason, Morteza Vaez, Lam O. Huang, Julie Clayton, Golam Khandaker, Nicolas Timpson, Ruby Tsang, Jack Underwood, Megan Wood, James Walters, Peter Holmans

1131-1158

01.06.2026 · 1 Zitationen

Polymorphic CGG repeats in gene regulation and disease

Yijing Zhao, Dale Annear, Emily G. Allen, R. Frank Kooy, David L. Nelson, Peng Jin

1124

01.05.2026

Bi-allelic variants in the ribosomal protein RPS6KC1 cause a complex neurodevelopmental disorder

Laura Planas-Serra, Mar Rodríguez-Ruiz, Eric Nathaniel Anderson, Agustí Rodríguez-Palmero, Valentina Vélez-Santamaria, Agatha Schlüter, Edgard Verdura, Gorka Gereñu, Andrés Jiménez-Zúñiga, Alejandro Iñañez, Josefina Casas, Joan Josep Bech, Tatiani Brenelli De Lima, Carolina De La Torre, Juan José Martínez, Montserrat Ruiz, Stéphane Fourcade, Maria Iascone, Romano Tenconi, Kolja Meier, Susann Diegmann, Reagan H.C. Lee, Bakht Beland, Asif Mir, Hossein Darvish, Wendy Chung, Ehsan Ghayoor Karimiani, Suzanne M. Leal, Isabelle Schrauwen, Susanna Öhman, Irma Järvelä, Johanna Granvik, Karit Reinson, Elvira Kurvinen, Katrin Õunap, Annemarie Schwan, Konrad Platzer, Tuğba Kalayci, Shahrashoub Sharifi, G. Christoph Korenke

978-989

01.05.2026

Measuring disease likelihood in genomic ascertainment

Julie C. Sapp, Katie L. Lewis, Emily W. Modlin, Alana Davidson, Charlotte Linton Early, Adam H. Buchanan, Alexis Darling, Jacquelyn Mahder, Cara Z. McCormick, Allison J. de Moya, Brooke Rosenblum, Morgan Similuk, Kelly Tangney, Meghan C. Towne, Clesson Turner, Caralynn M. Wilczewski, Jennifer J. Johnston, Leslie G. Biesecker

889-890

01.05.2026

This month in The Journal

Paul W. Hook, Alyson B. Barnes

891-899

01.05.2026 · 2 Zitationen

Implications of the FDA’s new plausible mechanism framework for the development of a personalized in vivo prime editing platform

Emily R. Feierman, Madelynn N. Whittaker, Aidan Quigley, Dominique L. Brooks, Paige McVeigh, Angela X. Nan, Alvin Hsu, Hooda Said, Ousamah Younoss Soliman, Ryan Giovenco, Beverly L. Davidson, Mohamad-Gabriel Alameh, David R. Liu, Xiao Wang, Kiran Musunuru, Rebecca C. Ahrens-Nicklas

900-914

01.05.2026 · 8 Zitationen

Integrating genetic data with biological insight: A practical guide to cis-Mendelian randomization

Ville Karhunen, Benjamin Woolf, Pallav Bhatnagar, Dipender Gill, Stephen Burgess

990-1005

01.05.2026

Benchmarking genetic birth prevalence estimates against newborn screening data

Michael C. Sierant, Nicholas Knoblauch, Evan Witt, Daniel Gaffney, Sara L. Pulit, Arthur Wuster

915-928

01.05.2026 · 6 Zitationen

Defining a tandem repeat catalog and variation clusters for genome-wide analyses and population databases

Ben Weisburd, Egor Dolzhenko, Mark F. Bennett, Matt C. Danzi, Isaac R.L. Xu, Hope Tanudisastro, Bida Gu, Adam English, Laurel Hiatt, Tom Mokveld, Guilherme De Sena Brandine, Readman Chiu, Nehir Edibe Kurtas, Helyaneh Ziaei Jam, Harrison Brand, Indhu-Shree Rajan-Babu, Melanie Bahlo, Mark J.P. Chaisson, Stephan Züchner, Melissa Gymrek, Harriet Dashnow, Michael A. Eberle, Heidi L. Rehm

1024-1035

01.05.2026

Performance of LFSPRO prediction in TP53 mutation status for prospectively collected probands

Jessica L. Corredor, Ruonan Li, Elissa B. Dodd-Eaton, Jacynda Casey, Ashley H. Woodson, Nam H. Nguyen, Gang Peng, Angelica M. Gutierrez, Banu K. Arun, Wenyi Wang

1036-1048

01.05.2026 · 2 Zitationen

Sensitivity of HiFi long-read genome sequencing for difficult-to-detect pathogenic variants when applied to real-world clinical laboratory samples

Joseph M. Devaney, Jessica X. Chong, Patricia C. Lopes, Jessica Noya, April S. Berlyoung, Shamila Yusuff, Solomon Lynch, Rhonda Brandon, Kathleen S. Hruska, Lucas Lochovsky, Julianna Spangler, Kirsty McWalter, Keith Nykamp, Sarah R. Poll, Andrew B. Stergachis, John Greally, Paul Kruszka, Egor Dolzhenko, Xiao Chen, Alexander V. Robertson, William J. Rowell, Juniper A. Lake, Andrew Carroll, Robert Kueffner, Michael A. Eberle, Flavia M. Facio, Michael J. Bamshad, Britt Johnson

929-949

01.05.2026

PACells identifies phenotype-associated cell states from single-cell chromatin accessibility profiles

Jiao Hua, Qiongyu Sheng, Shutong Xiao, Yang Zhou, Jing Qi, Shuilin Jin

1006-1023

01.05.2026 · 2 Zitationen

The impact of sex on the immune system explored at the single-cell level

Seyhan Yazar, Jose Alquicira-Hernandez, Kristof Wing, Anne Senabouth, Stacey Andersen, Kirsten A. Fairfax, Alex W. Hewitt, Joseph E. Powell, Sara Ballouz

1090-1107

01.05.2026 · 2 Zitationen

Bi-allelic ATG12 variants impair autophagy and cause a neurodevelopmental disorder

James Lambton, Shotaro Asano, Yuxiang Huang, Fumi Suomi, Tomoya Eguchi, Cassidy Petree, Kevin Huang, Magali Prigent, Aliza Imam, Thomas J. McCorvie, Daniel Warren, Emma Hobson, Helen McCullagh, Doriana Misceo, Anna Bjerre, Marie F. Smeland, Claus Klingenberg, Eirik Frengen, Swati Naik, Gavin Ryan, Annapurna Sudarsanam, Katherine Foster, Pradeep Vasudevan, Rajib Samanta, Fatima Rahman, Shazia Maqbool, Vrajesh Udani, Stephanie Efthymiou, Henry Houlden, Robert McFarland, Jack J. Collier, Reza Maroofian, Wyatt W. Yue, Gaurav K. Varshney, Daniel J. Klionsky, Renaud Legouis, Thomas G. McWilliams, Noboru Mizushima, Monika Oláhová, Charlotte L. Alston

950-965

01.05.2026 · 1 Zitationen

A flexible and unified framework for single- and multi-outcome Mendelian randomization using summary statistics

Bowei Kang, David Li, Ke Xu, Jianhai Chen, Sihao Feng, Jinyu Wang, Guimin Gao, Shinya Tasaki, Brandon L. Pierce, David A. Bennett, Lin S. Chen

966-977

01.05.2026

Putting polygenic scores in context: How intersectional factors affect relative and absolute genetic risk

Mihael Cudic, Justin D. Tubbs, Tian Ge, Jordan W. Smoller

1122

01.05.2026

Specifications of the ACMG/AMP variant curation guidelines for the analysis of germline PALB2 sequence variants

Marcy E. Richardson, Megan F.H. Bishop, Megan A. Holdren, Miguel de la Hoya, Amanda B. Spurdle, Sean V. Tavtigian, Terra Brannan, Colin C. Young, Lauren Zec, Susan Hiraki, Clare Turnbull, Marc Tischkowitz, Kara A. Bernstein, Jean-Yves Masson, Shannon M. McNulty, Tina Pesaran, Alvaro N. Monteiro, Logan C. Walker, William D. Foulkes, Fergus J. Couch

1067-1089

01.05.2026

Bi-allelic WDHD1 variants cause microcephalic primordial dwarfism

Debora Tibbe, Marie Ronja Vogt, Tess Holling, Lea Dewi Schlieben, Fanny Kortüm, Moneef Shoukier, Christoph Bagowski, Felix Distelmaier, Luisa Averdunk, Alexej Knaus, Peter Krawitz, Alma Kuechler, Elke Lainka, Amelie Stalke, Sandra von Hardenberg, Bernd Auber, Eva-Doreen Pfister, Bruno Reversade, Anthony Sabbagh, Aida M. Bertoli-Avella, Salem Alawbathani, Elizabeth E. Palmer, Manisha Chauhan, Rocio Rius, Yoonji Kim, Dzhoy Papingi, Deborah Bartholdi, Dominique Braun, Oliver Maier, April Dinwiddie, Elisabeth Steichen-Gersdorf, Andreas R. Janecke, Anatoly Tiulpakov, Nikolay Zernov, Maria Izabel Arismendi, Alexander A.L. Jorge, Himanshu Goel, Lauren Dreyer, Lily Loughman, Holger Prokisch

1108-1121

01.05.2026 · 2 Zitationen

Bi-allelic variants in NDUFA5 cause a mitochondriopathy with complex I deficiency

Natalie B. Tan, Matthias Gautschi, Michael Raum, Daniella H. Hock, Robert Kopajtich, Jia Wang, Xiao Qian, Tanavi Sharma, Timothy E. Green, Jean-Marc Nuoffer, Katrina M. Bell, Katarzyna Pospieszny, Tegan Stait, Chloe Pike, Michelle Cao, Susan M. White, David R. Thorburn, Theresa Brunet, Matias Wagner, Wolfgang Müller-Felber, Leopold Zeng, Thomas Klopstock, André Schaller, Jing Liu, David A. Stroud, Holger Prokisch

1049-1066

01.05.2026 · 1 Zitationen

Ultra-rare functional variants reveal early-onset breast cancer risk genes and pathways in the UK Biobank and All of Us Research Program

Jennifer Asmussen, Kevin Wilhelm, Kwanghyuk Lee, Chen Wang, Panagiotis Katsonis, Yi Li, Lawrence A. Donehower, Olivier Lichtarge

1123

01.05.2026

Specifications of the ACMG/AMP variant curation guidelines for the analysis of germline ATM sequence variants

Marcy E. Richardson, Megan Holdren, Terra Brannan, Miguel de la Hoya, Amanda B. Spurdle, Sean V. Tavtigian, Colin C. Young, Lauren Zec, Susan Hiraki, Michael J. Anderson, Logan C. Walker, Shannon McNulty, Clare Turnbull, Marc Tischkowitz, Katherine Schon, Thomas Slavin, William D. Foulkes, Melissa Cline, Alvaro N. Monteiro, Tina Pesaran, Fergus J. Couch

828-841

01.04.2026 · 1 Zitationen

Multi-ancestry transcriptome prediction with functionally informed variants in TOPMed MESA improves performance of transcriptome-wide association studies

Xiaowei Hu, Daniel S. Araujo, Chachrit Khunsriraksakul, Lida Wang, Quan Sun, Jia Wen, Lingbo Zhou, Lynette Ekunwe, Leslie A. Lange, Ethan M. Lange, Stephen B. Montgomery, Alexander P. Reiner, Francois Aguet, Kristin G. Ardlie, Tuuli Lappalainen, Christopher R. Gignoux, Esteban G. Burchard, Kent D. Taylor, Xiuqing Guo, Jerome I. Rotter, Stephen S. Rich, Elaine Cornell, Peter Durda, Russell P. Tracy, Yongmei Liu, W. Craig Johnson, George P. Papanicolaou, Minoli A. Perera, Michael H. Cho, Dajiang J. Liu, Laura M. Raffield, Yun Li, Heather E. Wheeler, Hae Kyung Im, Ani Manichaikul

702-714

01.04.2026 · 1 Zitationen

Inclusion bias affects common variant discovery and replication in a health-system linked biobank

Aditya Pimplaskar, Junqiong Qiu, Sandra Lapinska, Veronica Tozzo, Jeffrey N. Chiang, Bogdan Pasaniuc, Loes M. Olde Loohuis

877-887

01.04.2026 · 2 Zitationen

Bi-allelic variants in the non-protein-coding minor spliceosome components RNU6ATAC and RNU4ATAC cause syndromic monogenic autoimmune diabetes

Matthew 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

842-851

01.04.2026 · 2 Zitationen

Focus on single-gene effects limits discovery and interpretation of complex-trait-associated variants

Kathryn A. Lawrence, Tamara Gjorgjieva, Daniel Nachun, Stephen B. Montgomery

736-753

01.04.2026 · 3 Zitationen

BLOC1S1 variants cause lysosomal and autophagic defects resulting in a hypomyelinating leukodystrophy with epileptic encephalopathy

Raffaella De Pace, Carlos A. Dominguez Gonzalez, Chad D. Williamson, Guy Helman, Leslie E. Sanderson, Brianna Disanza, Nicole Hsiao-Sánchez, Amy Pizzino, Kayla Muirhead, Joshua L. Bonkowsky, Ryan J. Taft, Nouriya A. Sannaa, Patricia Dias, Ana Sofia Quintas, Mehmet Burak Mutlu, Hasan Bas, Hasan Oztürk, Majid Mojarrad, Masoome Alerasool, Shahriar Sheikhani, Hayder Kadhim Jabbar, Awatif Hameed Issa, Henry Houlden, Emir Zonic, Tahsin Stefan Barakat, Kornelia Tripolski, Antonio Romito, Eden Teferedegn, Arastoo Vossough, Matthew T. Whitehead, Elizabeth Bhoj, Rebecca C. Ahrens-Nicklas, Cas Simons, Ernst Wolvetang, Tjakko J. van Ham, Aida M. Bertoli-Avella, Reza Maroofian, Juan S. Bonifacino, Adeline Vanderver

767-781

01.04.2026 · 2 Zitationen

Adaptive admixture at ACKR1, the Duffy blood group locus, may have shaped Plasmodium vivax prevalence in Oman

Paige E. Haffener, Arwa Z. Al-Riyami, Shoaib Al-Zadjali, George B.J. Busby, Sulaiman Al-Mahdhuri, Mohammed Al-Rawahi, Saif Al-Hosni, Ali Al-Marhoobi, Ammar Al-Sheriyani, Ellen M. Leffler

809-827

01.04.2026 · 2 Zitationen

Genome-wide detection of human 5′ UTR variants that impact protein translation

Matthieu Chaldebas, Khoren Ponsin, Jonathan Bohlen, Clement Conil, Haralambos Mourelatos, Peter D. Stenson, David N. Cooper, Laurent Abel, Jean-Laurent Casanova, Aurélie Cobat, Peng Zhang

692-701

01.04.2026

Newborn screening for type 1 diabetes using genome-based risk scores in the Early Check program

Nathan C. Gaddis, Katerina S. Kucera, Heidi L. Cope, Javan K. Carter, Ana N. Forsythe, Angela Gwaltney, Jennifer Sullivan, Blythe Crissman, Diane P. Fraser, Grier P. Page, Elizabeth Jalazo, Jennifer R. Law, Curt Scharfe, Holly L. Peay

794-808

01.04.2026 · 1 Zitationen

Genetics of skeletal proportions across two different populations

Eric Bartell, Kuang Lin, Kristin Tsuo, Wei Gan, Sailaja Vedantam, Joanne B. Cole, John M. Baronas, Loic Yengo, Eirini Marouli, Tiffany Amariuta, Zhengming Chen, Liming Li, Nora E. Renthal, Christina M. Jacobsen, Rany M. Salem, Robin G. Walters, Joel N. Hirschhorn

639-663

01.04.2026 · 5 Zitationen

Incorporating polygenic risk scores and social determinants of health across populations: Considerations and best practices in research

Sara J. Cromer, Ewan K. Cobran, Hari S. Iyer, Micah R. Hysong, Luciana B. Vargas, Johanna L. Smith, Iain R. Konigsberg, David Bogumil, LáShauntá Glover, Gillian King, Leslie A. Lange, Aniruddh Patel, Genevieve Wojcik, Laura Raffield, David V. Conti

678-691

01.04.2026 · 7 Zitationen

Return of genome-informed risk-assessment results for common conditions to 23,840 adults and children: An eMERGE network study

Lucinda P. Lawson, Cynthia A. Prows, Josh Cortopassi, Kyle W. Davis, Madilyn Head, Lisa J. Martin, Emma F. Perez, Agboade Sobowale, Noura S. Abul-Husn, Hana Bangash, Harris T. Bland, Katherine E. Bonini, Rex L. Chisholm, Wendy K. Chung, James J. Cimino, John J. Connolly, David R. Crosslin, Robert R. Freimuth, Blake Goff, Adam S. Gordon, Hakon Hakonarson, Margaret H. Harr, Emma Henricks, Valentina Hernandez, Christin Hoell, Ingrid A. Holm, George Hripcsak, Elizabeth W. Karlson, Eimear E. Kenny, Atlas Khan, Krzysztof Kiryluk, Leah C. Kottyan, Niall J. Lennon, Nita Limdi, Jodell E. Linder, Cong Liu, Teri A. Manolio, Mary A. Maradik, Priya N. Marathe, Devi P. Maripuri

637-638

01.04.2026

This month in The Journal

Paul W. Hook, Alyson B. Barnes

664-677

01.04.2026 · 6 Zitationen

The Electronic Medical Records and Genomics study: Design and analytic framework for assessing the impact of genome-informed risk assessments

Nita Limdi, T. Mark Beasley, Josh Cortopassi, Brittney Davis, Hana Bangash, Jingheng Chen, Rex L. Chisholm, Wendy K. Chung, James J. Cimino, John Connolly, David R. Crosslin, Kyle W. Davis, Alanna DiVietro, Edward D. Esplin, Bob Freimuth, Adam Gordon, Hakon Hakonarson, Marwan Hamed, Megan He, Christin Hoell, Ingrid Holm, George Hripscak, Margurite R. Irvin, Gail P. Jarvik, Dean Karavite, Elizabeth W. Karlson, Eimear E. Kenny, Atlas Khan, Krzysztof Kiryluk, Sarah Knerr, Bruce Korf, Leah Kottyan, Iftikhar Kullo, Katie Larkin, Niall Lennon, Jodell E. Linder, Teri Manolio, Lisa J. Martin, Elizabeth M. McNally, Jennifer Morse

715-735

01.04.2026

Selective chr21 homolog silencing reveals polymorphisms influence the epigenetic silencing and functional dosage of RWDD2B

Eric C. Larsen, Jennifer E. Moon, Oliver D. King, Jeanne B. Lawrence

868-876

01.04.2026 · 9 Zitationen

Higher eQTL power reveals signals that boost GWAS colocalization

Jonathan D. Rosen, K. Alaine Broadaway, Sarah M. Brotman, Karen L. Mohlke, Michael I. Love

782-793

01.04.2026

Best practices for improving alignment and variant calling on human sex chromosomes

Angela M. Taravella Oill, Seema B. Plaisier, Tanya N. Phung, Melissa A. Wilson

852-867

01.04.2026 · 1 Zitationen

Associations of genetic variants with gene expression factors reveal biological pathways underlying complex traits

Xiaotong Sun, Nathan LaPierre, Jing Gu, Wenchang Tan, Xin He

754-766

01.04.2026

Bi-allelic variants in OLA1 cause a neurodevelopmental disorder with joint hypermobility

Lama AlAbdi, Abdullah Sezer, Fatema Alzahrani, Sebiha Cevik, Zanyar Demir, Nor Linda Abdullah, Özlem Durukan, Efe Dallı, Mais O. Hashem, Omar Abuyousef, Bayan Aljamal, Rana Helaby, Mona Radwan, Amal Jaafar, Tarfa Alshidi, Israa Salem, Halima Hamid, Bader Alhaddad, Khadijah Bakur, Elifcan Taşdelen, Mustafa Kılıç, Mohammed Al-Owain, Amal Alhashem, Eirik Bratland, Julie Paulsen, Gunnar Houge Douzgos, Anya Revah Politi, Kevin Uguen, Emmanuelle Masson, Severine Audebert, Talal AlAnzi, Stefan T. Arold, Bora Ergin, Leena A. Ibrahim, Oktay I. Kaplan, Fowzan S. Alkuraya

636

01.03.2026

A cardiovascular, craniofacial, and neurodevelopmental disorder caused by loss-of-function variants in the eIF3 complex component genes EIF3A and EIF3B

Esra Erkut, Cherith Somerville, Marci L.B. Schwartz, Laura McDonald, Qiliang Ding, Olivia M. Moran, Xin Chen, Roozbeh Manshaei, Anne-Sophie Riedijk, Marie-Therese Schnürer, Daniel C. Koboldt, Stylianos E. Antonarakis, Emma C. Bedoukian, Xavier Blanc, Laura K. Conlin, Helen Cox, Karin E.M. Diderich, Bri Dingmann, Christèle Dubourg, Frances Elmslie, Luis F. Escobar, Rachel Gosselin, Maria J. Guillen Sacoto, Cynthia D. Haag, Lisa Herzig, Ramanand Jeeneea, Priti Kenia, Konstantinos Kolokotronis, Anna M. Kopps, Christin Kupper, Hayley Lees, Jacqueline Leonard, Jonathan Levy, Rebecca Littlejohn, Demian Mayer, Kim L. McBride, Scott D. McLean, Nikhil Pattani, Laurence Perrin, Véronique Pingault

517-528

01.03.2026

Rare-variant aggregation highlights disease-linked genes associated with brain volume variation

Douglas P. Wightman, Bernardo A.P.C. Maciel, Rachel M. Brouwer, Martijn P. van den Heuvel, Danielle Posthuma

416-423

01.03.2026

2025 ASHG Scientific Achievement Award: Decoding the genome—From structure to development to the promise of precision medicine

Michael E. Talkowski

582-599

01.03.2026 · 2 Zitationen

Loss-of-function variants in SAXO6, encoding a microtubule inner protein of photoreceptor cilia, cause a late-onset retinal dystrophy

Abigail R. Moye, Caitlyn L. McCafferty, Siying Lin, Ji Hoon Han, Lubica Dudakova, Kim Rodenburg, Viktória Szabó, Zoltán Zsolt Nagy, Dinah Zur, Marie Vajter, Bohdan Kousal, Alexandre P. Moulin, Alexandra Graff-Meyer, Susanne Roosing, Omar A. Mahroo, Gavin Arno, Andrew R. Webster, Tamar Ben-Yosef, Petra Liskova, Benjamin D. Engel, Ditta Zobor, Mathieu Quinodoz, Carlo Rivolta

562-581

01.03.2026

Bi-allelic loss-of-function variants in JKAMP cause a neurodevelopmental syndrome associated with dysregulation of GPR37 trafficking

Pilar Chacon-Millan, Antonella Delicato, Arif Mahmood, Alfonsina Tirozzi, Jlenia Monfregola, Karine Duroure, Malo Serafini, François Kroll, Océane El-hage, Somaya Salah, Osama M. Atawneh, Tahir Atik, Enise Avcı Durmusalioglu, Esra Isik, Naif A.M. Almontashiri, Brahim Tabarki, Moien Kanaan, Grace Rabie, Annalaura Torella, Carmine Spampanato, Domenica Immacolata Battaglia, Anais Begemann, Katharina Steindl, Anita Rauch, Markus Zweier, Mj Hajianpour, Karlla W. Brigatti, Amal Alhashem, Reza Maroofian, Eva Feigerlova, Laetitia Lambert, Francois Feillet, Mary-Alice Abbott, Alfonso Manuel D’Alessio, Claudia Gonzaga-Jauregui, Marcel Tawk, Maria Antonietta De Matteis, Filippo Del Bene, Marcella Zollino, Vincenzo Nigro

483-493

01.03.2026 · 6 Zitationen

Mind the gap: Characterizing bias due to population mismatch in two-sample Mendelian randomization

Jack Li, Jean Morrison

428-436

01.03.2026 · 2 Zitationen

Variant interpretation training for the genomics era: Learning outcomes to inform professional competencies and education

Amy Nisselle, Douglas Liddicoat, Corrina Cliffe, Lyndon Gallacher, Melissa Martyn, Jan Hodgson, Naomi L. Baker, Victoria Beshay, Miriam Fanjul-Fernandez, Andrew P. Fellowes, Sebastian Lunke, Dean G. Phelan, Ain Roesley, Zornitza Stark, Tiong Yang Tan, Bryony Thompson, Clara L. Gaff, Natalie Thorne

616-626

01.03.2026

Bi-allelic variants in FSD1L cause retinitis pigmentosa with or without neurological involvement

Siying Lin, Francesca Cancellieri, Yexuan Cao, Andrew J. Lotery, Abigail R. Moye, Veronika Vaclavik, Fabienne Perren, Andrzej B. Poplawski, Elena R. Schiff, Mukhtar Ullah, Ana Belen Iglesias-Romero, Karolina Kaminska, Aleksandr Jestin, Marc Folcher, Sandrine Wallerich, Mariana M. Ribeiro, Vincent Hahaut, Simone Picelli, Debarshi Mustafi, Aleksander Tworak, Roman Smidak, Yumei Li, Jiaxiong Lu, Meng Wang, Omar A. Mahroo, Shyamanga Borooah, Mathieu Quinodoz, Krzysztof Palczewski, Andrew R. Webster, Carlo Rivolta, Rui Chen, Gavin Arno

600-615

01.03.2026

Bi-allelic variants in FSD1L cause a neurodevelopmental disorder overlapping with L1 syndrome

Valentina Serpieri, Myriam Vezain-Mouchard, Alessia Orsi, Maryline Lecointre, Concetta Mazzotta, Florent Marguet, Anna Garbelli, Pascale Marcorelles, Ludovica Celli, Alice Goldenberg, Roberta De Mori, Nathalie Drouot, Francesco Petrizzelli, François Janin, Gaël Nicolas, Noor Smal, Claudia Condoluci, Carla Marini, Frederic Tran-Mau-Them, Valentin Ruault, Alessia Micalizzi, Silvia Bione, Tommaso Mazza, Anna Pichiecchio, Monia Ginevrino, Sarah Weckhuysen, Alice Bedois, Béatrice Desnous, Laurent Hermitte, Grace Rabie, Moien Kanaan, Bruno J. Gonzalez, Simone Sabbioneda, Annie Laquerrière, Pascale Saugier-Veber, Enza Maria Valente

401-402

01.03.2026

This month in The Journal

Paul W. Hook, Alyson B. Barnes

413-415

01.03.2026

2025 ASHG Lifetime Achievement Award

Harry C. Dietz

437-452

01.03.2026

Identification of de novo variants from parent-proband duos via long-read sequencing

Leandros Boukas, Emmanuèle C. Délot, Georgia Pitsava, Christine Lambert, Cairbre Fanslow, Primo Baybayan, Sami Belhadj, Bojan Losic, John Harting, Krista Bluske, Jonathan LoTempio, Huda B. Al-Kouatly, Rachid Karam, William J. Rowell, Changrui Xiao, Eric Vilain, Seth I. Berger

472-482

01.03.2026 · 1 Zitationen

MetaGLIMPSE: Meta-imputation of low-coverage sequencing data for modern and ancient genomes

Kiran H. Kumar, Simone Rubinacci, Sebastian Zӧllner

424-427

01.03.2026

2025 ASHG Leadership Award

Eric D. Green

627-635

01.03.2026 · 5 Zitationen

SMN1 variants identified by false-positive SMA newborn screening tests: Therapeutic hurdles and functional and epidemiological solutions

Brunhilde Wirth, Joyosmita Das, Heike Kölbel, Shuxiang Goh, Michelle A. Farrar, Valentina Piano, Sebastian Zetzsche, Nico Fuhrmann, Jutta Becker, Mert Karakaya, Yougang Zhang, Yuqing Cao, Afsaneh Taghipour-Sheshdeh, Brett W. Stringer, Jean Giacomotto

529-547

01.03.2026 · 3 Zitationen

Enhanced muscle uptake of chemically optimized miR-23b antisense oligonucleotides as lead compounds for myotonic dystrophy type 1

Irene González-Martínez, Estefanía Cerro-Herreros, Marc Carrascosa-Sàez, Andrea García-Rey, Diego Piqueras-Losilla, Anna Colom-Rodrigo, Nerea Moreno, Mouli Chakraborty, Aline Huguet-Lachon, Anchel González-Barriga, Neia Naldaiz-Gastesi, Martxel Dehesa, Ana Díaz-Maqueda, Nuria Barquero, Miguel A. Varela, Adolfo López de Munain, Ramon Eritja, Geneviève Gourdon, Arturo López-Castel, Manuel Pérez-Alonso, Beatriz Llamusi, Rubén Artero

403-404

01.03.2026

2025 ASHG awards and addresses

10.1016/j.ajhg.2026.02.003

405-412

01.03.2026

2025 ASHG presidential address: Stronger together: Advancing human genetics through the power of community

Sarah A. Tishkoff

548-561

01.03.2026

Bi-allelic variants in NRDC cause a neurodevelopmental disorder characterized by neonatal lethality, microcephaly, and brain abnormalities

Davut Pehlivan, Abigail Sandoval, Reza Maroofian, François Lecoquierre, Aisha M. Al Shamsi, Gyu S. Lee, Osman Yesilbas, Preston Taylor, Matthew B. McDougal, Vahid Bahrambeigi, Omid Aryani, Juan Felipe Ramirez, Khalid Hama Salih, Chadi Al Alam, Heba Morsy, Haytham Hussien, Tarek Omar, Ibrahim M. Abdelrazek, Anne Claire Brehin, Dana Marafi, Tugba Kalayci, Jubran Abu Rahma, Jawabreh Kassem Talbeya, Husein Dabbah, Eric Verspyck, Toktam Moosavian, Jawid M. Fatih, Tadahiro Mitani, Gulsen Akay, Daniel G. Calame, Anne-Marie Guerrot, Wendy K. Chung, Henry Houlden, James R. Lupski, Adel Shalata, Wan Hee Yoon

453-471

01.03.2026 · 1 Zitationen

Multiple-testing corrections in case-control studies using identity-by-descent segments

Seth D. Temple, Nicola H. Chapman, Seung Hoan Choi, Anita L. DeStefano, Timothy A. Thornton, Ellen M. Wijsman, Elizabeth E. Blue

494-516

01.03.2026 · 1 Zitationen

An endothelial RNA splicing atlas catalogs effects of IL-1β and identifies an alternative PROCR isoform with genetic links to pleiotropic vascular disease

Anna K. Golebiewski, Lindsey K. Stolze, Valentina D. Vazquez, Alhan Mehrabi Yazdi, Cecilia M. Careaga, Casey E. Romanoski

380-391

01.02.2026 · 2 Zitationen

MDGA2 homozygous loss-of-function variants cause developmental and epileptic encephalopathy

Heba Morsy, Hyeonho Kim, Gyubin Jang, Maha S. Zaki, Mariasavina Severino, Ibrahim M. Abdelrazek, Haytham Hussien, Eleanor Self, Raidah Saleem Albaradie, Khadijah Bakur, Zahra Firoozfar, Stephanie Efthymiou, Mahmoud M. Noureldeen, Amira Nabil, Javeria Raza Alvi, Fateme Molavi, Shahryar Alavi, Reza Alibakhshi, Vehap Topcu, Hanifenur Mancilar, Eyyup Uctepe, Ahmet Yesilyurt, Hesham Aldhalaan, Ehab Salah Showki Tous, Bader Alhaddad, Hasnaa M. Elbendary, Annarita Scardamaglia, David Murphy, Vicente A. Yépez, Julien Gagneur, Tarek I. Omar, Marwa Abd Elmaksoud, Jana Vandrovocova, Ebtessam Abdalla, Mary M. Reilly, Tipu Sultan, Fowzan S. Alkuraya, Joseph G. Gleeson, Ji Won Um, Henry Houlden

399

01.02.2026 · 1 Zitationen

Evaluating multi-ancestry genome-wide association methods: Statistical power, population structure, and practical implications

Julie-Alexia Dias, Tony Chen, Hua Xing, Xiaoyu Wang, Alex A. Rodriguez, Ravi K. Madduri, Peter Kraft, Haoyu Zhang

362-379

01.02.2026 · 2 Zitationen

Bi-allelic variants in neuronal adhesion molecule astrotactin 1 gene ASTN1 cause diverse neurodevelopmental disorders

Jesse M. Levine, Daniel G. Calame, Riccardo Sangermano, Haowei Du, Ahmed Saad, Jasmin Lisfeld, Tatjana Bierhals, Jonas Denecke, Eyyup Uctepe, Merve Yoldas Celik, Ahmet Yesilyurt, Hilal Yildiz Er, Elif Yilmaz Gulec, Aziza Mushiba, Naif Almontashiri, Pawel Gawlinski, Wojciech Wiszniewski, Ender Karaca, Lama Alabdi, Davut Pehlivan, Dana Marafi, Maha S. Zaki, Fowzan S. Alkuraya, Joseph G. Gleeson, Shalini N. Jhangiani, Richard A. Gibbs, Jennifer E. Posey, Kinga M. Bujakowska, James R. Lupski

276-290

01.02.2026 · 5 Zitationen

A gene-specific variance-control approach corrects polygenicity-driven inflation observed in transcriptome-wide association studies

Yanyu Liang, Festus Nyasimi, Hae Kyung Im

392-398

01.02.2026 · 1 Zitationen

Validation and context-dependent effects of a prostate cancer polygenic risk score in the All of Us Research Program

Shuyan Cheng, Austin Hammermeister Suger, Louisa B. Goss, Jiachen Zhang, Harriett Fuller, Boya Guo, Sara Lindström, Burcu F. Darst

237-246

01.02.2026

Competition in human genetic technologies: The current US legal landscape

Abdulai I. Rashid, Nicole A. Rincon, Nathan Rihani, Jennifer K. Wagner

342-361

01.02.2026 · 1 Zitationen

Dominant and recessive ATOH1 variants cause distinct neurodevelopmental disorders with hearing loss

Nicole Bertola, Eléonore Blondiaux, Madeleine Harion, Imen Dorboz, Sandrine Passemard, Sandra Mercier, Solène Conrad, Benjamin Cogné, Julie Boyer, Sophie Uyttebroeck, Kristof Van Schil, Wim Wuyts, Nanna Dahl Rendtorff, Mette Bertelsen, Kristianna Mey, Pierre Blanc, Jerome Champ, Odile Boespflug-Tanguy, Vincent Cantagrel, Lydie Burglen, Marion Coolen

247-259

01.02.2026 · 2 Zitationen

AncientProxy: A catalog of ancient proxies for modern genetic variants

Colin M. Brand, John A. Capra

291-308

01.02.2026 · 3 Zitationen

Genetic regulation of fatty acid content in adipose tissue

Xinyu Yan, Amy L. Roberts, Julia S. El-Sayed Moustafa, Sergio Villicaña, Maryam Al-Hilal, Max Tomlinson, Cristina Menni, Thomas A.B. Sanders, Maxim B. Freidin, Jordana T. Bell, Kerrin S. Small

309-323

01.02.2026 · 1 Zitationen

Mendelian randomization linking metabolites with enzymes reveals pathway regulation and therapeutic avenues

Adriaan van der Graaf, Sadegh Rizi, Chiara Auwerx, Zoltán Kutalik

235-236

01.02.2026

This month in The Journal

Paul W. Hook, Alyson B. Barnes

324-341

01.02.2026 · 5 Zitationen

Molecular genotype-phenotype correlation in ACTB- and ACTG1-related non-muscle actinopathies

Nataliya Di Donato, Andrew Thom, Andreas Rump, Johannes N. Greve, Juan Cadiñanos, Rocco Salvatore Calabrò, Sara Cathey, Brian Chung, Heidi Cope, Maria Costales, Sara Cuvertino, Philine Dinkel, Kalliopi Erripi, Andrew E. Fry, Livia Garavelli, Sabine Hoffjan, Wibke G. Janzarik, Insa Kreimer, Grazia Mancini, Purificacion Marin-Reina, Andrea Meinhardt, Indra Niehaus, Daniela Pilz, Ivana Ricca, Fernando Santos Simarro, Evelin Schrock, Anja Marquardt, Manuel H. Taft, Kamer Tezcan, Sofia Thunström, Judith Verhagen, Alain Verloes, Bernd Wollnik, Peter Krawitz, Tzung-Chien Hsieh, Michael Seifert, Michael Heide, Catherine B. Lawrence, Neil A. Roberts, Dietmar J. Manstein

260-275

01.02.2026 · 2 Zitationen

Expanded chromatin accessibility mapping explains genetic variation associated with complex traits in liver

Brandon M. Wenz, Max F. Dudek, Shweta Ramdas, Kate Townsend Creasy, Dong Xin, Kim M. Olthoff, Abraham Shaked, Daniel J. Rader, Christopher D. Brown, Benjamin F. Voight

100-116

01.01.2026 · 2 Zitationen

De novo variants in KDM2A cause a syndromic neurodevelopmental disorder

Eric N. Anderson, Stephan Drukewitz, Sukhleen Kour, Anuradha V. Chimata, Deepa S. Rajan, Senta Schönnagel, Karen L. Stals, Deirdre Donnelly, Siobhan O'Sullivan, John F. Mantovani, Tiong Y. Tan, Zornitza Stark, Pia Zacher, Nicolas Chatron, Pauline Monin, Severine Drunat, Yoann Vial, Xenia Latypova, Jonathan Levy, Alain Verloes, Jennefer N. Carter, Devon E. Bonner, Suma P. Shankar, Jonathan A. Bernstein, Julie S. Cohen, Anne Comi, Deanna Alexis Carere, Lisa M. Dyer, Sureni V. Mullegama, Pedro A. Sanchez-Lara, Katheryn Grand, Hyung-Goo Kim, Afif Ben-Mahmoud, Sidney M. Gospe, Rebecca S. Belles, Gary Bellus, Klaske D. Lichtenbelt, Renske Oegema, Anita Rauch, Ivan Ivanovski

133-148

01.01.2026 · 2 Zitationen

Liver single-nucleus multiome profiling reveals cell-type mechanisms for cardiometabolic traits

Abdalla A. Alkhawaja, Kevin W. Currin, Hannah J. Perrin, Swarooparani Vadlamudi, Amy S. Etheridge, K. Alaine Broadaway, Gabrielle H. Cannon, Carlton W. Anderson, Anne H. Moxley, Alina C. Iuga, Erin G. Schuetz, Federico Innocenti, Terrence S. Furey, Karen L. Mohlke

5-15

01.01.2026 · 4 Zitationen

Interpreting the functional impact of genetic variants: The need for context qualifiers

Simone Martinelli, Hélène Cavé, Alessandro De Luca, Marina DiStefano, Rachel Karchin, Ana Clara Lugones, Anne O’Donnell-Luria, Deborah I. Ritter, David Tamborero, Michael Y. Tolstorukov, Paulo Vidal Campregher, Marco Tartaglia, Dmitriy Sonkin

117-132

01.01.2026 · 1 Zitationen

Functional analysis of NPR2 variants supports the therapeutic rationale for CNP in short stature

Raehoon Jeong, Sergio Covarrubias, Devanshi Shanghavi, Donald Ruhrmund, Karol Estrada, Dejie Zhou, Nofar Marom, Christopher R. Bauer, Steven Froelich

149-167

01.01.2026 · 5 Zitationen

Genetic control of non-coding RNAs in the human brain and their implications for complex traits

Li Chen, Yazhou Guo, Junren Hou, Wen Yang, Ting Qi, Jian Yang

234

01.01.2026 · 1 Zitationen

Plasma DNA Profile Associated with DNASE1L3 Gene Mutations: Clinical Observations, Relationships to Nuclease Substrate Preference, and In Vivo Correction

Rebecca W.Y. Chan, Lee Serpas, Meng Ni, Stefano Volpi, Linda T. Hiraki, Lai-Shan Tam, Ali Rashidfarrokhi, Priscilla C.H. Wong, Lydia H.P. Tam, Yueyang Wang, Peiyong Jiang, Alice S.H. Cheng, Wenlei Peng, Diana S.C. Han, Patty P.P. Tse, Pik Ki Lau, Wing-Shan Lee, Alberto Magnasco, Elisa Buti, Vanja Sisirak, Nora AlMutairi, K.C. Allen Chan, Rossa W.K. Chiu, Boris Reizis, Y.M. Dennis Lo

184-201

01.01.2026 · 7 Zitationen

The relationship between genotype- and phenotype-based estimates of genetic liability to psychiatric disorders, in practice and in theory

M. Dybdahl Krebs, Vivek Appadurai, Kajsa-Lotta Georgii Hellberg, Henrik Ohlsson, Jette Steinbach, Emil Pedersen, Thomas Werge, Jan Sundquist, Kristina Sundquist, Richard Border, Na Cai, Noah Zaitlen, Andy Dahl, Bjarni Vilhjalmsson, Jonathan Flint, Silviu-Alin Bacanu, Kenneth S. Kendler, Andrew J. Schork

168-183

01.01.2026 · 2 Zitationen

MIRAGE: A Bayesian statistical method for gene-level rare-variant analysis incorporating functional annotations

Shengtong Han, Xiaotong Sun, Laura Sloofman, F. Kyle Satterstrom, Xizhi Xu, Lifan Liang, Nicholas Knoblauch, Wenhui Sheng, Siming Zhao, Tan-Hoang Nguyen, Gao Wang, Joseph Buxbaum, Xin He

41-56

01.01.2026 · 2 Zitationen

Large-scale integration of omics and electronic health records to identify potential risk protein biomarkers and therapeutic drugs for cancer prevention

Qing Li, Qingyuan Song, Zhishan Chen, Jungyoon Choi, Victor Moreno, Jie Ping, Wanqing Wen, Chao Li, Xiang Shu, Jun Yan, Xiao-ou Shu, Qiuyin Cai, Jirong Long, Jeroen R. Huyghe, Rish Pai, Stephen B. Gruber, Yaohua Yang, Graham Casey, Xusheng Wang, Adetunji T. Toriola, Li Li, Bhuminder Singh, Ken S. Lau, Li Zhou, Zichen Zhang, Chong Wu, Ulrike Peters, Wei Zheng, Quan Long, Zhijun Yin, Xingyi Guo

1-2

01.01.2026

The dawn of interventional genetics

Kiran Musunuru

29-40

01.01.2026 · 6 Zitationen

Racial and socioeconomic disparities in genetic evaluation and testing in the adult patient population

Jessica I. Gold, Yehuda Elkaim, Nina B. Gold, Stephanie Asher, Anna Raper, Courtney Condit, Zoe Bogus, Isaac Elysee, Laura Hennessy, Emma Kennedy, Lauren C. Briere, David A. Sweetser, Colleen Kripke, Anurag Verma, Hojjat Salmasian, Latrice Landry, Katherine L. Nathanson, Staci Kallish, Theodore G. Drivas

83-99

01.01.2026 · 6 Zitationen

MSH3 is a genetic modifier of somatic repeat instability in X-linked dystonia parkinsonism

Alan Mejia Maza, Madison Hincher, Kevin Correia, Tammy Gillis, Ayumi Nishiyama, Ellen B. Penney, Aloysius Domingo, Rachita Yadav, Micaela G. Murcar, Patrick D. Villafria Mercado, Justin S. Han, Ean P. Norenberg, Cara Fernandez-Cerado, G. Paul Legarda, Michelle Sy, Edwin L. Muñoz, Mark C. Ang, Cid Czarina E. Diesta, Criscely Go, Nutan Sharma, D. Cristopher Bragg, Michael E. Talkowski, Marcy E. MacDonald, Jong-Min Lee, Laurie J. Ozelius, Vanessa Chantal Wheeler

221-233

01.01.2026 · 3 Zitationen

Palindrome-mediated 16p13.3 triplications cause a recognizable neurodegenerative disorder with ataxia

James Fasham, Julia Rankin, Rachel Schot, Susan M. White, Katrina M. Bell, Matthew N. Wakeling, Lucy J. Mallin, Alex Shah, Michelle G. de Silva, David I. Francis, Maie Walsh, Emily E. Jones, Kayal Vijayakumar, Katie Johnson, Francis H. Sansbury, Johann te Water Naudé, Paola Giunti, Marios Hadjivassiliou, Andrea H. Nemeth, George K. Tofaris, Carlo Rinaldi, Benito Banos-Pinero, Marianna Selikhva, Nishanka Ubeyratna, Anneke Kievit, Frank Sleutels, Joey van Giessen, Tahsin Stefan Barakat, Timothy S. Hall, Alan Whone, Eleanor Thomas, Joseph S. Leslie, Rosemary A. Bamford, Aaron R. Jeffries, Jenny Lord, Susan Walker, Tjakko J. van Ham, Sue L. Hill, Lucy McGavin, Andrew Parrish

71-82

01.01.2026 · 11 Zitationen

Low population penetrance of variants associated with inherited retinal degenerations

Kirill 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

57-70

01.01.2026

GA4GH phenopacket-driven characterization of genotype-phenotype correlations in Mendelian disorders

Lauren Rekerle, Daniel Danis, Filip Rehburg, Adam S.L. Graefe, Viktor Bily, Andrés Caballero-Oteyza, Pilar Cacheiro, Leonardo Chimirri, Jessica X. Chong, Evan Connelly, Bert B.A. de Vries, Alexander J.M. Dingemans, Michael H. Duyzend, Tomas Freiberger, Petra Gehle, Tudor Groza, Peter Hansen, Julius O.B. Jacobsen, Adam Klocperk, Markus S. Ladewig, Michael I. Love, Allison J. Marcello, Alexander Mordhorst, Monica C. Munoz-Torres, Justin Reese, Catharina Schuetz, Damian Smedley, Timmy Strauss, Ondrej Vladyka, David Zocche, Sylvia Thun, Christopher J. Mungall, Melissa A. Haendel, Peter N. Robinson

16-28

01.01.2026 · 2 Zitationen

Interaction of identity and beliefs with genetic literacy

Gabriela M. Ramírez Renta, India D. Little, Laura M. Koehly, Anna J. Hilliard, Kaylee L. Foor, Jessica Butts, Jordan Lundeen, Chris Gunter

3-4

01.01.2026

This month in The Journal

Paul W. Hook, Alyson B. Barnes

202-220

01.01.2026

LiMA: Robust inference of molecular mediation from summary statistics

Kaido Lepik, Chiara Auwerx, Marie C. Sadler, Adriaan van der Graaf, Sven Erik Ojavee, Zoltán Kutalik