Skip to main content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Volume 111(4);  2024 Apr 4

Articles from this journal are generally available in PMC after a 6-month delay (embargo); however, the delay may vary at the discretion of the publisher.

Editorial

Guidance on use of race, ethnicity, and geographic origin as proxies for genetic ancestry groups in biomedical publications
W. Gregory Feero, Robert D. Steiner, Anne Slavotinek, Tiago Faial, Michael J. Bamshad, Jehannine Austin, Bruce R. Korf, Annette Flanagin, Kirsten Bibbins-Domingo
Am J Hum Genet. 2024 Apr 4; 111(4): 621–623. Published online 2024 Mar 12. doi: 10.1016/j.ajhg.2024.03.003
PMCID:
PMC11023913

Review

Many roads to a gene-environment interaction
Kenneth E. Westerman, Tamar Sofer
Am J Hum Genet. 2024 Apr 4; 111(4): 626–635. Published online 2024 Apr 4. doi: 10.1016/j.ajhg.2024.03.002
PMCID:
PMC11023920

Articles

The association of cigarette smoking with DNA methylation and gene expression in human tissue samples
James L. Li, Niyati Jain, Lizeth I. Tamayo, Lin Tong, Farzana Jasmine, Muhammad G. Kibriya, Kathryn Demanelis, Meritxell Oliva, Lin S. Chen, Brandon L. Pierce
Am J Hum Genet. 2024 Apr 4; 111(4): 636–653. Published online 2024 Mar 14. doi: 10.1016/j.ajhg.2024.02.012
PMCID:
PMC11023923
Investigating the potential of single-cell DNA methylation data to detect allele-specific methylation and imprinting
Nicholas D. Johnson, David J. Cutler, Karen N. Conneely
Am J Hum Genet. 2024 Apr 4; 111(4): 654–667. Published online 2024 Mar 11. doi: 10.1016/j.ajhg.2024.02.009
PMCID:
PMC11023823
Liam Quinn, Jerome Whitfield, Michael P. Alpers, Tracy Campbell, Holger Hummerich, William Pomat, Peter Siba, George Koki, Ida Moltke, John Collinge, Garrett Hellenthal, Simon Mead
Am J Hum Genet. 2024 Apr 4; 111(4): 668–679. Published online 2024 Mar 19. doi: 10.1016/j.ajhg.2024.02.011
PMCID:
PMC11023820
Estimating disease heritability from complex pedigrees allowing for ascertainment and covariates
Doug Speed, David M. Evans
Am J Hum Genet. 2024 Apr 4; 111(4): 680–690. Published online 2024 Mar 14. doi: 10.1016/j.ajhg.2024.02.010
PMCID:
PMC11023822
Biobank-scale inference of multi-individual identity by descent and gene conversion
Sharon R. Browning, Brian L. Browning
Am J Hum Genet. 2024 Apr 4; 111(4): 691–700. Published online 2024 Mar 20. doi: 10.1016/j.ajhg.2024.02.015
PMCID:
PMC11023918
Mathieu Quinodoz, Karolina Kaminska, Francesca Cancellieri, Ji Hoon Han, Virginie G. Peter, Elifnaz Celik, Lucas Janeschitz-Kriegl, Nils Schärer, Daniela Hauenstein, Bence György, Giacomo Calzetti, Vincent Hahaut, Sónia Custódio, Ana Cristina Sousa, Yuko Wada, Yusuke Murakami, Almudena Avila Fernández, Cristina Rodilla Hernández, Pablo Minguez, Carmen Ayuso, Koji M. Nishiguchi, Cristina Santos, Luisa Coutinho Santos, Viet H. Tran, Veronika Vaclavik, Hendrik P.N. Scholl, Carlo Rivolta
Am J Hum Genet. 2024 Apr 4; 111(4): 701–713. Published online 2024 Mar 25. doi: 10.1016/j.ajhg.2024.03.001
PMCID:
PMC11023916
Sami Jalil, Timo Keskinen, Juhana Juutila, Rocio Sartori Maldonado, Liliya Euro, Anu Suomalainen, Risto Lapatto, Emilia Kuuluvainen, Ville Hietakangas, Timo Otonkoski, Mervi E. Hyvönen, Kirmo Wartiovaara
Am J Hum Genet. 2024 Apr 4; 111(4): 714–728. Published online 2024 Apr 4. doi: 10.1016/j.ajhg.2024.03.004
PMCID:
PMC11023919
Clustered de novo start-loss variants in GLUL result in a developmental and epileptic encephalopathy via stabilization of glutamine synthetase
Amy G. Jones, Matilde Aquilino, Rory J. Tinker, Laura Duncan, Zandra Jenkins, Gemma L. Carvill, Stephanie J. DeWard, Dorothy K. Grange, MJ Hajianpour, Benjamin J. Halliday, Muriel Holder-Espinasse, Judit Horvath, Silvia Maitz, Vincenzo Nigro, Manuela Morleo, Victoria Paul, Careni Spencer, Alina I. Esterhuizen, Tilman Polster, Alice Spano, Inés Gómez-Lozano, Abhishek Kumar, Gemma Poke, John A. Phillips, III, Hunter R. Underhill, Gregory Gimenez, Takashi Namba, Stephen P. Robertson
Am J Hum Genet. 2024 Apr 4; 111(4): 729–741. Published online 2024 Apr 4. doi: 10.1016/j.ajhg.2024.03.005
PMCID:
PMC11023914
De novo variants in FRYL are associated with developmental delay, intellectual disability, and dysmorphic features
Xueyang Pan, Alice M. Tao, Shenzhao Lu, Mengqi Ma, Shabab B. Hannan, Rachel Slaugh, Sarah Drewes Williams, Lauren O'Grady, Oguz Kanca, Richard Person, Melissa T. Carter, Konrad Platzer, Franziska Schnabel, Rami Abou Jamra, Amy E. Roberts, Jane W. Newburger, Anya Revah-Politi, Jorge L. Granadillo, Alexander P.A. Stegmann, Margje Sinnema, Andrea Accogli, Vincenzo Salpietro, Valeria Capra, Lina Ghaloul-Gonzalez, Martina Brueckner, Marleen E.H. Simon, David A. Sweetser, Kevin E. Glinton, Susan E. Kirk, Baylor College of Medicine Center for Precision Medicine Models, Michael F. Wangler, Shinya Yamamoto, Wendy K. Chung, Hugo J. Bellen
Am J Hum Genet. 2024 Apr 4; 111(4): 742–760. Published online 2024 Mar 12. doi: 10.1016/j.ajhg.2024.02.007
PMCID:
PMC11023917
Mono-allelic KCNB2 variants lead to a neurodevelopmental syndrome caused by altered channel inactivation
Shreyas Bhat, Justine Rousseau, Coralie Michaud, Charles Marques Lourenço, Joan M. Stoler, Raymond J. Louie, Lola K. Clarkson, Angie Lichty, Daniel C. Koboldt, Shalini C. Reshmi, Sanjay M. Sisodiya, Eva M.M. Hoytema van Konijnenburg, Klaas Koop, Peter M. van Hasselt, Florence Démurger, Christèle Dubourg, Bonnie R. Sullivan, Susan S. Hughes, Isabelle Thiffault, Elisabeth Simard Tremblay, Andrea Accogli, Myriam Srour, Rikard Blunck, Philippe M. Campeau
Am J Hum Genet. 2024 Apr 4; 111(4): 761–777. Published online 2024 Mar 18. doi: 10.1016/j.ajhg.2024.02.014
PMCID:
PMC11023922

Reports

De novo missense variants in exon 9 of SEPHS1 cause a neurodevelopmental condition with developmental delay, poor growth, hypotonia, and dysmorphic features
Sureni V. Mullegama, Kaitlyn A. Kiernan, Erin Torti, Ethan Pavlovsky, Nicholas Tilton, Austin Sekula, Hua Gao, Joseph T. Alaimo, Kendra Engleman, Eric T. Rush, Karli Blocker, Katrina M. Dipple, Veronica M. Fettig, Heather Hare, Ian Glass, Dorothy K. Grange, Michael Griffin, Chanika Phornphutkul, Lauren Massingham, Lakshmi Mehta, Danny E. Miller, Jenny Thies, J Lawrence Merritt, II, Eric Muller, II, Matthew Osmond, Sarah L. Sawyer, Rachel Slaugh, Rachel E. Hickey, Barry Wolf, Care4Rare Canada Consortium, Undiagnosed Diseases Network, Sanjeev Choudhary, Miljan Simonović, Yueqing Zhang, Timothy Blake Palculict, Aida Telegrafi, Deanna Alexis Carere, Ingrid M. Wentzensen, Michelle M. Morrow, Kristin G. Monaghan, Jun Yang, Jane Juusola
Am J Hum Genet. 2024 Apr 4; 111(4): 778–790. Published online 2024 Mar 25. doi: 10.1016/j.ajhg.2024.02.016
PMCID:
PMC11023921
Expanding the PRAAS spectrum: De novo mutations of immunoproteasome subunit β-type 10 in six infants with SCID-Omenn syndrome
Caspar I. van der Made, Simone Kersten, Odelia Chorin, Karin R. Engelhardt, Gayatri Ramakrishnan, Helen Griffin, Ina Schim van der Loeff, Hanka Venselaar, Annick Raas Rothschild, Meirav Segev, Janneke H.M. Schuurs-Hoeijmakers, Tuomo Mantere, Rick Essers, Masoud Zamani Esteki, Amir L. Avital, Peh Sun Loo, Annet Simons, Rolph Pfundt, Adilia Warris, Marieke M. Seyger, Frank L. van de Veerdonk, Mihai G. Netea, Mary A. Slatter, Terry Flood, Andrew R. Gennery, Amos J. Simon, Atar Lev, Shirley Frizinsky, Ortal Barel, Mirjam van der Burg, Raz Somech, Sophie Hambleton, Stefanie S.V. Henriet, Alexander Hoischen
Am J Hum Genet. 2024 Apr 4; 111(4): 791–804. Published online 2024 Mar 18. doi: 10.1016/j.ajhg.2024.02.013
PMCID:
PMC11023912

Correction

Maimuna S. Paul, Sydney L. Michener, Hongling Pan, Hiuling Chan, Jessica M. Pfliger, Jill A. Rosenfeld, Vanesa C. Lerma, Alyssa Tran, Megan A. Longley, Richard A. Lewis, Monika Weisz-Hubshman, Mir Reza Bekheirnia, Nasim Bekheirnia, Lauren Massingham, Michael Zech, Matias Wagner, Hartmut Engels, Kirsten Cremer, Elisabeth Mangold, Sophia Peters, Jessica Trautmann, Claudia Perne, Jessica L. Mester, Maria J. Guillen Sacoto, Richard Person, Pamela P. McDonnell, Stacey R. Cohen, Laina Lusk, Ana S.A. Cohen, Jean-Baptiste Le Pichon, Tomi Pastinen, Dihong Zhou, Kendra Engleman, Caroline Racine, Laurence Faivre, Sébastien Moutton, Anne-Sophie Denommé-Pichon, Hyun Yong Koh, Annapurna Poduri, Jeffrey Bolton, Cordula Knopp, Dong Sun Julia Suh, Andrea Maier, Mehran Beiraghi Toosi, Ehsan Ghayoor Karimiani, Reza Maroofian, Gerald Bradley Schaefer, Vijayalakshmi Ramakumaran, Pradeep Vasudevan, Benito Banos-Pinero, Alistair T. Pagnamenta, Chitra Prasad, Matthew Osmond, Sarah Schuhmann, Georgia Vasileiou, Sophie Russ-Hall, Ingrid E. Scheffer, Gemma L. Carvill, Heather Mefford, Undiagnosed Diseases Network, Carlos A. Bacino, Brendan H. Lee, Hsiao-Tuan Chao
Am J Hum Genet. 2024 Apr 4; 111(4): 805. Published online 2024 Mar 20. doi: 10.1016/j.ajhg.2024.03.009
PMCID:
PMC11023915

Articles from American Journal of Human Genetics are provided here courtesy of American Society of Human Genetics