The American Journal of Human Genetics

1. Genetic interactions drive heterogeneity in causal variant effect sizes for gene expression and complex traits

   Publication date: Available online 17 June 2022

   Source: The American Journal of Human Genetics

   Author(s): Roshni A. Patel, Shaila A. Musharoff, Jeffrey P. Spence, Harold Pimentel, Catherine Tcheandjieu, Hakhamanesh Mostafavi, Nasa Sinnott-Armstrong, Shoa L. Clarke, Courtney J. Smith, V.A. Million Veteran Program, Peter P. Durda, Kent D. Taylor, Russell Tracy, Yongmei Liu, W. Craig Johnson, Francois Aguet, Kristin G. Ardlie, Stacey Gabriel, Josh Smith, Deborah A. Nickerson, Stephen S. Rich

2. Leveraging the local genetic structure for trans-ancestry association mapping

   Publication date: Available online 16 June 2022

   Source: The American Journal of Human Genetics

   Author(s): Jiashun Xiao, Mingxuan Cai, Xinyi Yu, Xianghong Hu, Gang Chen, Xiang Wan, Can Yang

3. The impact of anorexia nervosa and BMI polygenic risk on childhood growth: A 20-year longitudinal population-based study

   Publication date: Available online 14 June 2022

   Source: The American Journal of Human Genetics

   Author(s): Mohamed Abdulkadir, Christopher Hübel, Moritz Herle, Ruth J.F. Loos, Gerome Breen, Cynthia M. Bulik, Nadia Micali

4. Rare genetic variants in genes and loci linked to dominant monogenic developmental disorders cause milder related phenotypes in the general population

   Publication date: Available online 13 June 2022

   Source: The American Journal of Human Genetics

   Author(s): Rebecca Kingdom, Marcus Tuke, Andrew Wood, Robin N. Beaumont, Timothy M. Frayling, Michael N. Weedon, Caroline F. Wright

5. A massively parallel assay accurately discriminates between functionally normal and abnormal variants in a hotspot domain of KCNH2

   Publication date: Available online 9 June 2022

   Source: The American Journal of Human Genetics

   Author(s): Chai-Ann Ng, Rizwan Ullah, Jessica Farr, Adam P. Hill, Krystian A. Kozek, Loren R. Vanags, Devyn W. Mitchell, Brett M. Kroncke, Jamie I. Vandenberg

6. A calibrated functional patch-clamp assay to enhance clinical variant interpretation in KCNH2-related long QT syndrome

   Publication date: Available online 9 June 2022

   Source: The American Journal of Human Genetics

   Author(s): Connie Jiang, Ebony Richardson, Jessica Farr, Adam P. Hill, Rizwan Ullah, Brett M. Kroncke, Steven M. Harrison, Kate L. Thomson, Jodie Ingles, Jamie I. Vandenberg, Chai-Ann Ng

7. An epigenome-wide view of osteoarthritis in primary tissues

   Publication date: Available online 8 June 2022

   Source: The American Journal of Human Genetics

   Author(s): Peter Kreitmaier, Matthew Suderman, Lorraine Southam, Rodrigo Coutinho de Almeida, Konstantinos Hatzikotoulas, Ingrid Meulenbelt, Julia Steinberg, Caroline L. Relton, J. Mark Wilkinson, Eleftheria Zeggini

8. Identification and functional evaluation of GRIA1 missense and truncation variants in individuals with ID: An emerging neurodevelopmental syndrome

   Publication date: Available online 7 June 2022

   Source: The American Journal of Human Genetics

   Author(s): Vardha Ismail, Linda G. Zachariassen, Annie Godwin, Mane Sahakian, Sian Ellard, Karen L. Stals, Emma Baple, Kate Tatton Brown, Nicola Foulds, Gabrielle Wheway, Matthew O. Parker, Signe M. Lyngby, Miriam G. Pedersen, Julie Desir, Allan Bayat, Maria Musgaard, Matthew Guille, Anders S. Kristensen, Diana Baralle

9. TOP-LD: A tool to explore linkage disequilibrium with TOPMed whole-genome sequence data

   Publication date: 2 June 2022

   Source: The American Journal of Human Genetics, Volume 109, Issue 6

   Author(s): Le Huang, Jonathan D. Rosen, Quan Sun, Jiawen Chen, Marsha M. Wheeler, Ying Zhou, Yuan-I Min, Charles Kooperberg, Matthew P. Conomos, Adrienne M. Stilp, Stephen S. Rich, Jerome I. Rotter, Ani Manichaikul, Ruth J.F. Loos, Eimear E. Kenny, Thomas W. Blackwell, Albert V. Smith, Goo Jun, Fritz J. Sedlazeck, Ginger Metcalf

10. Comprehensive evaluation and efficient classification of BRCA1 RING domain missense substitutions

    Publication date: 2 June 2022

    Source: The American Journal of Human Genetics, Volume 109, Issue 6

    Author(s): Kathleen A. Clark, Andrew Paquette, Kayoko Tao, Russell Bell, Julie L. Boyle, Judith Rosenthal, Angela K. Snow, Alex W. Stark, Bryony A. Thompson, Joshua Unger, Jason Gertz, Katherine E. Varley, Kenneth M. Boucher, David E. Goldgar, William D. Foulkes, Alun Thomas, Sean V. Tavtigian

11. Clinical impact of additional findings detected by genome-wide non-invasive prenatal testing: Follow-up results of the TRIDENT-2 study

    Publication date: 2 June 2022

    Source: The American Journal of Human Genetics, Volume 109, Issue 6

    Author(s): Lisanne van Prooyen Schuurman, Erik A. Sistermans, Diane Van Opstal, Lidewij Henneman, Mireille N. Bekker, Caroline J. Bax, Mijntje J. Pieters, Katelijne Bouman, Sonja de Munnik, Nicolette S. den Hollander, Karin E.M. Diderich, Brigitte H.W. Faas, Ilse Feenstra, Attie T.J.I. Go, Mariëtte J.V. Hoffer, Marieke Joosten, Fenne L. Komdeur, Klaske D. Lichtenbelt, Maria P. Lombardi, Marike G. Polak

12. Clotting factor genes are associated with preeclampsia in high-altitude pregnant women in the Peruvian Andes

    Publication date: 2 June 2022

    Source: The American Journal of Human Genetics, Volume 109, Issue 6

    Author(s): Maria A. Nieves-Colón, Keyla M. Badillo Rivera, Karla Sandoval, Vanessa Villanueva Dávalos, Luis E. Enriquez Lencinas, Javier Mendoza-Revilla, Kaustubh Adhikari, Ram González-Buenfil, Jessica W. Chen, Elisa T. Zhang, Alexandra Sockell, Patricia Ortiz-Tello, Gloria Malena Hurtado, Ramiro Condori Salas, Ricardo Cebrecos, José C. Manzaneda Choque, Franz P. Manzaneda Choque, Germán P. Yábar Pilco, Erin Rawls, Celeste Eng

13. The immunogenetics of viral antigen response is associated with subtype-specific glioma risk and survival

    Publication date: 2 June 2022

    Source: The American Journal of Human Genetics, Volume 109, Issue 6

    Author(s): Geno Guerra, Linda Kachuri, George Wendt, Helen M. Hansen, Steven J. Mack, Annette M. Molinaro, Terri Rice, Paige Bracci, John K. Wiencke, Nori Kasahara, Jeanette E. Eckel-Passow, Robert B. Jenkins, Margaret Wrensch, Stephen S. Francis

14. Analysis of MRI-derived spleen iron in the UK Biobank identifies genetic variation linked to iron homeostasis and hemolysis

    Publication date: 2 June 2022

    Source: The American Journal of Human Genetics, Volume 109, Issue 6

    Author(s): Elena P. Sorokin, Nicolas Basty, Brandon Whitcher, Yi Liu, Jimmy D. Bell, Robert L. Cohen, Madeleine Cule, E. Louise Thomas

15. Genome-wide association meta-analysis identifies 48 risk variants and highlights the role of the stria vascularis in hearing loss

    Publication date: 2 June 2022

    Source: The American Journal of Human Genetics, Volume 109, Issue 6

    Author(s): Natalia Trpchevska, Maxim B. Freidin, Linda Broer, Berthe C. Oosterloo, Shuyang Yao, Yitian Zhou, Barbara Vona, Charles Bishop, Argyro Bizaki-Vallaskangas, Barbara Canlon, Fabio Castellana, Daniel I. Chasman, Stacey Cherny, Kaare Christensen, Maria Pina Concas, Adolfo Correa, Ran Elkon, Andres Metspalu, Mari Nelis, Reedik Mägi

16. A phenome-wide association study identifies effects of copy-number variation of VNTRs and multicopy genes on multiple human traits

    Publication date: 2 June 2022

    Source: The American Journal of Human Genetics, Volume 109, Issue 6

    Author(s): Paras Garg, Bharati Jadhav, William Lee, Oscar L. Rodriguez, Alejandro Martin-Trujillo, Andrew J. Sharp

17. Integration of rare expression outlier-associated variants improves polygenic risk prediction

    Publication date: 2 June 2022

    Source: The American Journal of Human Genetics, Volume 109, Issue 6

    Author(s): Craig Smail, Nicole M. Ferraro, Qin Hui, Matthew G. Durrant, Matthew Aguirre, Yosuke Tanigawa, Marissa R. Keever-Keigher, Abhiram S. Rao, Johanne M. Justesen, Xin Li, Michael J. Gloudemans, Themistocles L. Assimes, Charles Kooperberg, Alexander P. Reiner, Jie Huang, Christopher J. O'Donnell, Yan V. Sun, Million Veteran Program, Manuel A. Rivas, Stephen B. Montgomery

18. Whole-exome sequencing identifies rare genetic variants associated with human plasma metabolites

    Publication date: 2 June 2022

    Source: The American Journal of Human Genetics, Volume 109, Issue 6

    Author(s): Lorenzo Bomba, Klaudia Walter, Qi Guo, Praveen Surendran, Kousik Kundu, Suraj Nongmaithem, Mohd Anisul Karim, Isobel D. Stewart, Claudia Langenberg, John Danesh, Emanuele Di Angelantonio, David J. Roberts, Willem H. Ouwehand, INTERVAL study, Ian Dunham, Adam S. Butterworth, Nicole Soranzo

19. Germline predisposition to pediatric Ewing sarcoma is characterized by inherited pathogenic variants in DNA damage repair genes

    Publication date: 2 June 2022

    Source: The American Journal of Human Genetics, Volume 109, Issue 6

    Author(s): Riaz Gillani, Sabrina Y. Camp, Seunghun Han, Jill K. Jones, Hoyin Chu, Schuyler O’Brien, Erin L. Young, Lucy Hayes, Gareth Mitchell, Trent Fowler, Alexander Gusev, Junne Kamihara, Katherine A. Janeway, Joshua D. Schiffman, Brian D. Crompton, Saud H. AlDubayan, Eliezer M. Van Allen

20. Genotype error biases trio-based estimates of haplotype phase accuracy

    Publication date: 2 June 2022

    Source: The American Journal of Human Genetics, Volume 109, Issue 6

    Author(s): Brian L. Browning, Sharon R. Browning

21. Meta-imputation: An efficient method to combine genotype data after imputation with multiple reference panels

    Publication date: 2 June 2022

    Source: The American Journal of Human Genetics, Volume 109, Issue 6

    Author(s): Ketian Yu, Sayantan Das, Jonathon LeFaive, Alan Kwong, Jacob Pleiness, Lukas Forer, Sebastian Schönherr, Christian Fuchsberger, Albert Vernon Smith, Gonçalo Rocha Abecasis

22. Shared components of heritability across genetically correlated traits

    Publication date: 2 June 2022

    Source: The American Journal of Human Genetics, Volume 109, Issue 6

    Author(s): Jenna Lee Ballard, Luke Jen O’Connor

23. Closing the loop: Editors' feedback on the ASHG readership survey

    Publication date: 2 June 2022

    Source: The American Journal of Human Genetics, Volume 109, Issue 6

    Author(s): Michael J. Bamshad, Bruce R. Korf

24. This month in The Journal

    Publication date: 2 June 2022

    Source: The American Journal of Human Genetics, Volume 109, Issue 6

    Author(s): Kylee L. Spencer, Sara B. Cullinan

25. A spectrum of recessiveness among Mendelian disease variants in UK Biobank

    Publication date: Available online 31 May 2022

    Source: The American Journal of Human Genetics

    Author(s): Alison R. Barton, Margaux L.A. Hujoel, Ronen E. Mukamel, Maxwell A. Sherman, Po-Ru Loh

26. Response to Mörseburg et al.

    Publication date: 5 May 2022

    Source: The American Journal of Human Genetics, Volume 109, Issue 5

    Author(s): Victoria L. Wyckelsma, Tomas Venckunas, Peter J. Houweling, Maja Schlittler, Volker M. Lauschke, Chrystal F. Tiong, Harrison D. Wood, Henrikas Paulauskas, Nerijus Eimantas, Daniel C. Andersson, Kathryn N. North, Marius Brazaitis, Håkan Westerblad

27. Response to Wyckelsma et al.: Loss of α-actinin-3 during human evolution provides superior cold resilience and muscle heat generation

    Publication date: 5 May 2022

    Source: The American Journal of Human Genetics, Volume 109, Issue 5

    Author(s): Alexander Mörseburg, Luca Pagani, Boris Malyarchuk, Miroslava Derenko, Toomas Kivisild

28. Neither cardiac mitochondrial DNA variation nor copy number contribute to congenital heart disease risk

    Publication date: 5 May 2022

    Source: The American Journal of Human Genetics, Volume 109, Issue 5

    Author(s): Jon A.L. Willcox, Joshua T. Geiger, Sarah U. Morton, David McKean, Daniel Quiat, Joshua M. Gorham, Angela C. Tai, Steven DePalma, Daniel Bernstein, Martina Brueckner, Wendy K. Chung, Alessandro Giardini, Elizabeth Goldmuntz, Jonathan R. Kaltman, Richard Kim, Jane W. Newburger, Yufeng Shen, Deepak Srivastava, Martin Tristani-Firouzi, Bruce Gelb

29. Germline MBD4 deficiency causes a multi-tumor predisposition syndrome

    Publication date: 5 May 2022

    Source: The American Journal of Human Genetics, Volume 109, Issue 5

    Author(s): Claire Palles, Hannah D. West, Edward Chew, Sara Galavotti, Christoffer Flensburg, Judith E. Grolleman, Erik A.M. Jansen, Helen Curley, Laura Chegwidden, Edward H. Arbe-Barnes, Nicola Lander, Rebekah Truscott, Judith Pagan, Ashish Bajel, Kitty Sherwood, Lynn Martin, Huw Thomas, Demetra Georgiou, Florentia Fostira, Yael Goldberg

30. De novo variants in ATP2B1 lead to neurodevelopmental delay

    Publication date: 5 May 2022

    Source: The American Journal of Human Genetics, Volume 109, Issue 5

    Author(s): Meer Jacob Rahimi, Nicole Urban, Meret Wegler, Heinrich Sticht, Michael Schaefer, Bernt Popp, Frank Gaunitz, Manuela Morleo, Vincenzo Nigro, Silvia Maitz, Grazia M.S. Mancini, Claudia Ruivenkamp, Eun-Kyung Suk, Tobias Bartolomaeus, Andreas Merkenschlager, Daniel Koboldt, Dennis Bartholomew, Alexander P.A. Stegmann, Margje Sinnema, Irma Duynisveld