The American Journal of Human Genetics

1. Active site variants in STT3A cause a dominant type I congenital disorder of glycosylation with neuromusculoskeletal findings

   Publication date: Available online 14 October 2021

   Source: The American Journal of Human Genetics

   Author(s): Matthew P. Wilson, Alejandro Garanto, Filippo Pinto e Vairo F, Bobby G. Ng, Wasantha K. Ranatunga, Marina Ventouratou, Melissa Baerenfaenger, Karin Huijben, Christian Thiel, Angel Ashikov, Liesbeth Keldermans, Erika Souche, Sandrine Vuillaumier-Barrot, Thierry Dupré, Helen Michelakakis, Agata Fiumara, James Pitt, Sue White, Sze Chern Lim, Lyndon Gallacher

2. Genetic overlap and causality between blood metabolites and migraine

   Publication date: Available online 12 October 2021

   Source: The American Journal of Human Genetics

   Author(s): Hamzeh M. Tanha, Anita Sathyanarayanan, The International Headache Genetics Consortium, Dale R. Nyholt

3. Detecting cryptic clinically relevant structural variation in exome-sequencing data increases diagnostic yield for developmental disorders

   Publication date: Available online 8 October 2021

   Source: The American Journal of Human Genetics

   Author(s): Eugene J. Gardner, Alejandro Sifrim, Sarah J. Lindsay, Elena Prigmore, Diana Rajan, Petr Danecek, Giuseppe Gallone, Ruth Y. Eberhardt, Hilary C. Martin, Caroline F. Wright, David R. FitzPatrick, Helen V. Firth, Matthew E. Hurles

4. Revisiting the out of Africa event with a deep-learning approach

   Publication date: Available online 8 October 2021

   Source: The American Journal of Human Genetics

   Author(s): Francesco Montinaro, Vasili Pankratov, Burak Yelmen, Luca Pagani, Mayukh Mondal

5. SPRED2 loss-of-function causes a recessive Noonan syndrome-like phenotype

   Publication date: Available online 8 October 2021

   Source: The American Journal of Human Genetics

   Author(s): Marialetizia Motta, Giulia Fasano, Sina Gredy, Julia Brinkmann, Adeline Alice Bonnard, Pelin Ozlem Simsek-Kiper, Elif Yilmaz Gulec, Leila Essaddam, Gulen Eda Utine, Ingrid Guarnetti Prandi, Martina Venditti, Francesca Pantaleoni, Francesca Clementina Radio, Andrea Ciolfi, Stefania Petrini, Federica Consoli, Cédric Vignal, Denis Hepbasli, Melanie Ullrich, Elke de Boer

6. Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals

   Publication date: 7 October 2021

   Source: The American Journal of Human Genetics, Volume 108, Issue 10

   Author(s): Epi25 Collaborative

7. ABHD16A deficiency causes a complicated form of hereditary spastic paraplegia associated with intellectual disability and cerebral anomalies

   Publication date: 7 October 2021

   Source: The American Journal of Human Genetics, Volume 108, Issue 10

   Author(s): Gabrielle Lemire, Yoko A. Ito, Aren E. Marshall, Nicolas Chrestian, Valentina Stanley, Lauren Brady, Mark Tarnopolsky, Cynthia J. Curry, Taila Hartley, Wendy Mears, Alexa Derksen, Nadie Rioux, Nataly Laflamme, Harrol T. Hutchison, Lynn S. Pais, Maha S. Zaki, Tipu Sultan, Adrie D. Dane, Care4Rare Canada Consortium, Joseph G. Gleeson, Frédéric M. Vaz

8. Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss

   Publication date: 7 October 2021

   Source: The American Journal of Human Genetics, Volume 108, Issue 10

   Author(s): Elodie M. Richard, Somayeh Bakhtiari, Ashley P.L. Marsh, Rauan Kaiyrzhanov, Matias Wagner, Sheetal Shetty, Alex Pagnozzi, Sandra M. Nordlie, Brandon S. Guida, Patricia Cornejo, Helen Magee, James Liu, Bethany Y. Norton, Richard I. Webster, Lisa Worgan, Hakon Hakonarson, Jiankang Li, Yiran Guo, Mahim Jain, Alyssa Blesson

9. High prevalence of multilocus pathogenic variation in neurodevelopmental disorders in the Turkish population

   Publication date: 7 October 2021

   Source: The American Journal of Human Genetics, Volume 108, Issue 10

   Author(s): Tadahiro Mitani, Sedat Isikay, Alper Gezdirici, Elif Yilmaz Gulec, Jaya Punetha, Jawid M. Fatih, Isabella Herman, Gulsen Akay, Haowei Du, Daniel G. Calame, Akif Ayaz, Tulay Tos, Gozde Yesil, Hatip Aydin, Bilgen Geckinli, Nursel Elcioglu, Sukru Candan, Ozlem Sezer, Haktan Bagis Erdem, Davut Gul

10. Rare and de novo variants in 827 congenital diaphragmatic hernia probands implicate LONP1 as candidate risk gene

    Publication date: 7 October 2021

    Source: The American Journal of Human Genetics, Volume 108, Issue 10

    Author(s): Lu Qiao, Le Xu, Lan Yu, Julia Wynn, Rebecca Hernan, Xueya Zhou, Christiana Farkouh-Karoleski, Usha S. Krishnan, Julie Khlevner, Aliva De, Annette Zygmunt, Timothy Crombleholme, Foong-Yen Lim, Howard Needelman, Robert A. Cusick, George B. Mychaliska, Brad W. Warner, Amy J. Wagner, Melissa E. Danko, Dai Chung

11. Identifying digenic disease genes via machine learning in the Undiagnosed Diseases Network

    Publication date: 7 October 2021

    Source: The American Journal of Human Genetics, Volume 108, Issue 10

    Author(s): Souhrid Mukherjee, Joy D. Cogan, John H. Newman, John A. Phillips, Rizwan Hamid, Undiagnosed Diseases Network, Jens Meiler, John A. Capra

12. Comparative single-cell analysis of biopsies clarifies pathogenic mechanisms in Klinefelter syndrome

    Publication date: 7 October 2021

    Source: The American Journal of Human Genetics, Volume 108, Issue 10

    Author(s): Eisa Mahyari, Jingtao Guo, Ana C. Lima, Daniel P. Lewinsohn, Alexandra M. Stendahl, Katinka A. Vigh-Conrad, Xichen Nie, Liina Nagirnaja, Nicole B. Rockweiler, Douglas T. Carrell, James M. Hotaling, Kenneth I. Aston, Donald F. Conrad

13. Classification of 101 BRCA1 and BRCA2 variants of uncertain significance by cosegregation study: A powerful approach

    Publication date: 7 October 2021

    Source: The American Journal of Human Genetics, Volume 108, Issue 10

    Author(s): Sandrine M. Caputo, Lisa Golmard, Mélanie Léone, Francesca Damiola, Marine Guillaud-Bataille, Françoise Revillion, Etienne Rouleau, Nicolas Derive, Adrien Buisson, Noémie Basset, Mathias Schwartz, Paul Vilquin, Celine Garrec, Maud Privat, Mathilde Gay-Bellile, Caroline Abadie, Khadija Abidallah, Fabrice Airaud, Anne-Sophie Allary, Emmanuelle Barouk-Simonet

14. Improved pathogenicity prediction for rare human missense variants

    Publication date: 7 October 2021

    Source: The American Journal of Human Genetics, Volume 108, Issue 10

    Author(s): Yingzhou Wu, Roujia Li, Song Sun, Jochen Weile, Frederick P. Roth

15. Fast two-stage phasing of large-scale sequence data

    Publication date: 7 October 2021

    Source: The American Journal of Human Genetics, Volume 108, Issue 10

    Author(s): Brian L. Browning, Xiaowen Tian, Ying Zhou, Sharon R. Browning

16. An integrated approach to identify environmental modulators of genetic risk factors for complex traits

    Publication date: 7 October 2021

    Source: The American Journal of Human Genetics, Volume 108, Issue 10

    Author(s): Brunilda Balliu, Ivan Carcamo-Orive, Michael J. Gloudemans, Daniel C. Nachun, Matthew G. Durrant, Steven Gazal, Chong Y. Park, David A. Knowles, Martin Wabitsch, Thomas Quertermous, Joshua W. Knowles, Stephen B. Montgomery

17. A 584 bp deletion in CTRB2 inhibits chymotrypsin B2 activity and secretion and confers risk of pancreatic cancer

    Publication date: 7 October 2021

    Source: The American Journal of Human Genetics, Volume 108, Issue 10

    Author(s): Ashley Jermusyk, Jun Zhong, Katelyn E. Connelly, Naomi Gordon, Sumeth Perera, Ehssan Abdolalizadeh, Tongwu Zhang, Aidan O’Brien, Jason W. Hoskins, Irene Collins, Daina Eiser, Chen Yuan, PanScan Consortium, Demetrius Albanes, Alan A. Arslan, Aurelio Barricarte Gurrea, Laura Beane-Freeman, Paige M. Bracci, Bas Bueno-de-Mesquita, Julie Buring, Federico Canzian

18. Whole-genome sequencing in diverse subjects identifies genetic correlates of leukocyte traits: The NHLBI TOPMed program

    Publication date: 7 October 2021

    Source: The American Journal of Human Genetics, Volume 108, Issue 10

    Author(s): Anna V. Mikhaylova, Caitlin P. McHugh, Linda M. Polfus, Laura M. Raffield, Meher Preethi Boorgula, Thomas W. Blackwell, Jennifer A. Brody, Jai Broome, Nathalie Chami, Ming-Huei Chen, Matthew P. Conomos, Corey Cox, Joanne E. Curran, Michelle Daya, Lynette Ekunwe, David C. Glahn, Nancy Heard-Costa, Heather M. Highland, Brian D. Hobbs, Yann Ilboudo

19. Genetic determinants of blood-cell traits influence susceptibility to childhood acute lymphoblastic leukemia

    Publication date: 7 October 2021

    Source: The American Journal of Human Genetics, Volume 108, Issue 10

    Author(s): Linda Kachuri, Soyoung Jeon, Andrew T. DeWan, Catherine Metayer, Xiaomei Ma, John S. Witte, Charleston W.K. Chiang, Joseph L. Wiemels, Adam J. de Smith

20. The National Academies’ Roundtable on Genomics and Precision Health: Where we have been and where we are heading

    Publication date: 7 October 2021

    Source: The American Journal of Human Genetics, Volume 108, Issue 10

    Author(s): Geoffrey Ginsburg, Michelle Penny, W. Gregory Feero, Mona Miller, Siobhan Addie, Sarah H. Beachy

21. This month in The Journal

    Publication date: 7 October 2021

    Source: The American Journal of Human Genetics, Volume 108, Issue 10

    Author(s): Sarah Ratzel, Sara B. Cullinan

22. Response to Hamosh et al.

    Publication date: 2 September 2021

    Source: The American Journal of Human Genetics, Volume 108, Issue 9

    Author(s): Leslie G. Biesecker, Margaret P. Adam, Fowzan S. Alkuraya, Anne R. Amemiya, Michael J. Bamshad, Anita E. Beck, James T. Bennett, Lynne M. Bird, John C. Carey, Brian Chung, Robin D. Clark, Timothy C. Cox, Cynthia Curry, Mary Beth Palko Dinulos, William B. Dobyns, Philip F. Giampietro, Katta M. Girisha, Ian A. Glass, John M. Graham, Karen W. Gripp

23. Response to Biesecker et al.

    Publication date: 2 September 2021

    Source: The American Journal of Human Genetics, Volume 108, Issue 9

    Author(s): Ada Hamosh, Joanna S. Amberger, Carol A. Bocchini, Joann Bodurtha, Carol J. Bult, Christopher G. Chute, Garry R. Cutting, Harry C. Dietz, Helen V. Firth, Richard A. Gibbs, Wayne W. Grody, Melissa A. Haendel, James R. Lupski, Jennifer E. Posey, Peter N. Robinson, Lynn M. Schriml, Alan F. Scott, Nara L. Sobreira, David Valle, Nan Wu

24. Patterns of genetic connectedness between modern and medieval Estonian genomes reveal the origins of a major ancestry component of the Finnish population

    Publication date: 2 September 2021

    Source: The American Journal of Human Genetics, Volume 108, Issue 9

    Author(s): Toomas Kivisild, Lehti Saag, Ruoyun Hui, Simone Andrea Biagini, Vasili Pankratov, Eugenia D’Atanasio, Luca Pagani, Lauri Saag, Siiri Rootsi, Reedik Mägi, Ene Metspalu, Heiki Valk, Martin Malve, Kadri Irdt, Tuuli Reisberg, Anu Solnik, Christiana L. Scheib, Daniel N. Seidman, Amy L. Williams, Estonian Biobank Research Team, Kristiina Tambets

25. Robust genetic nurture effects on education: A systematic review and meta-analysis based on 38,654 families across 8 cohorts

    Publication date: 2 September 2021

    Source: The American Journal of Human Genetics, Volume 108, Issue 9

    Author(s): Biyao Wang, Jessie R. Baldwin, Tabea Schoeler, Rosa Cheesman, Wikus Barkhuizen, Frank Dudbridge, David Bann, Tim T. Morris, Jean-Baptiste Pingault

26. Stratification of risk of progression to colectomy in ulcerative colitis via measured and predicted gene expression

    Publication date: 2 September 2021

    Source: The American Journal of Human Genetics, Volume 108, Issue 9

    Author(s): Angela Mo, Sini Nagpal, Kyle Gettler, Talin Haritunians, Mamta Giri, Yael Haberman, Rebekah Karns, Jarod Prince, Dalia Arafat, Nai-Yun Hsu, Ling-Shiang Chuang, Carmen Argmann, Andrew Kasarskis, Mayte Suarez-Farinas, Nathan Gotman, Emebet Mengesha, Suresh Venkateswaran, Paul A. Rufo, Susan S. Baker, Cary G. Sauer

27. A polygenic-score-based approach for identification of gene-drug interactions stratifying breast cancer risk

    Publication date: 2 September 2021

    Source: The American Journal of Human Genetics, Volume 108, Issue 9

    Author(s): Andrew R. Marderstein, Scott Kulm, Cheng Peng, Rulla Tamimi, Andrew G. Clark, Olivier Elemento

28. Massively parallel characterization of CYP2C9 variant enzyme activity and abundance

    Publication date: 2 September 2021

    Source: The American Journal of Human Genetics, Volume 108, Issue 9

    Author(s): Clara J. Amorosi, Melissa A. Chiasson, Matthew G. McDonald, Lai Hong Wong, Katherine A. Sitko, Gabriel Boyle, John P. Kowalski, Allan E. Rettie, Douglas M. Fowler, Maitreya J. Dunham

29. Position effects at the FGF8 locus are associated with femoral hypoplasia

    Publication date: 2 September 2021

    Source: The American Journal of Human Genetics, Volume 108, Issue 9

    Author(s): Magdalena Socha, Anna Sowińska-Seidler, Uirá Souto Melo, Bjørt K. Kragesteen, Martin Franke, Verena Heinrich, Robert Schöpflin, Inga Nagel, Nicolas Gruchy, Stefan Mundlos, Varun K.A. Sreenivasan, Cristina López, Martin Vingron, Ewelina Bukowska-Olech, Malte Spielmann, Aleksander Jamsheer

30. COPB2 loss of function causes a coatopathy with osteoporosis and developmental delay

    Publication date: 2 September 2021

    Source: The American Journal of Human Genetics, Volume 108, Issue 9

    Author(s): Ronit Marom, Lindsay C. Burrage, Rossella Venditti, Aurélie Clément, Bernardo Blanco-Sánchez, Mahim Jain, Daryl A. Scott, Jill A. Rosenfeld, V. Reid Sutton, Marwan Shinawi, Ghayda Mirzaa, Catherine DeVile, Rowenna Roberts, Alistair D. Calder, Jeremy Allgrove, Ingo Grafe, Denise G. Lanza, Xiaohui Li, Kyu Sang Joeng, Yi-Chien Lee