The American Journal of Human Genetics

1. Functional annotation of the 2q35 breast cancer risk locus implicates a structural variant in influencing activity of a long-range enhancer element

   Publication date: Available online 18 June 2021

   Source: The American Journal of Human Genetics

   Author(s): Joseph S. Baxter, Nichola Johnson, Katarzyna Tomczyk, Andrea Gillespie, Sarah Maguire, Rachel Brough, Laura Fachal, Kyriaki Michailidou, Manjeet K. Bolla, Qin Wang, Joe Dennis, Thomas U. Ahearn, Irene L. Andrulis, Hoda Anton-Culver, Natalia N. Antonenkova, Volker Arndt, Kristan J. Aronson, Annelie Augustinsson, Heiko Becher, Matthias W. Beckmann

2. Bi-allelic variants in the ER quality control mannosidase gene EDEM3 cause a congenital disorder of glycosylation

   Publication date: Available online 17 June 2021

   Source: The American Journal of Human Genetics

   Author(s): Daniel L. Polla, Andrew C. Edmondson, Sandrine Duvet, Michael E. March, Ana Berta Sousa, Anna Lehman, CAUSES Study, Dmitriy Niyazov, Fleur van Dijk, Serwet Demirdas, Marjon A. van Slegtenhorst, Anneke J.A. Kievit, Celine Schulz, Linlea Armstrong, Xin Bi, Daniel J. Rader, Kosuke Izumi, Elaine H. Zackai, Elisa de Franco, Paula Jorge, Sophie C. Huffels

3. Exome variant discrepancies due to reference genome differences

   Publication date: Available online 14 June 2021

   Source: The American Journal of Human Genetics

   Author(s): He Li, Moez Dawood, Michael M. Khayat, Jesse R. Farek, Shalini N. Jhangiani, Ziad M. Khan, Tadahiro Mitani, Zeynep Coban-Akdemir, James R. Lupski, Eric Venner, Jennifer E. Posey, Aniko Sabo, Richard A. Gibbs

4. De novo and bi-allelic variants in AP1G1 cause neurodevelopmental disorder with developmental delay, intellectual disability, and epilepsy

   Publication date: Available online 7 June 2021

   Source: The American Journal of Human Genetics

   Author(s): Muhammad A. Usmani, Zubair M. Ahmed, Pamela Magini, Victor Murcia Pienkowski, Kristen J. Rasmussen, Rebecca Hernan, Faiza Rasheed, Mureed Hussain, Mohsin Shahzad, Brendan C. Lanpher, Zhiyv Niu, Foong-Yen Lim, Tommaso Pippucci, Rafal Ploski, Verena Kraus, Karolina Matuszewska, Flavia Palombo, Jessica Kianmahd, UCLA Clinical Genomics Center, Julian A. Martinez-Agosto, Hane Lee

5. Project Baby Bear: Rapid precision care incorporating rWGS in 5 California children’s hospitals demonstrates improved clinical outcomes and reduced costs of care

   Publication date: Available online 4 June 2021

   Source: The American Journal of Human Genetics

   Author(s): David Dimmock, Sara Caylor, Bryce Waldman, Wendy Benson, Christina Ashburner, Jason L. Carmichael, Jeanne Carroll, Elaine Cham, Shimul Chowdhury, John Cleary, Arthur D’Harlingue, A. Doshi, Katarzyna Ellsworth, Carolina I. Galarreta, Charlotte Hobbs, Kathleen Houtchens, Juliette Hunt, Priscilla Joe, Maries Joseph, Robert H. Kaplan

6. Whole-genome sequencing association analysis of quantitative red blood cell phenotypes: The NHLBI TOPMed program

   Publication date: 3 June 2021

   Source: The American Journal of Human Genetics, Volume 108, Issue 6

   Author(s): Yao Hu, Adrienne M. Stilp, Caitlin P. McHugh, Shuquan Rao, Deepti Jain, Xiuwen Zheng, John Lane, Sébastian Méric de Bellefon, Laura M. Raffield, Ming-Huei Chen, Lisa R. Yanek, Marsha Wheeler, Yao Yao, Chunyan Ren, Jai Broome, Jee-Young Moon, Paul S. de Vries, Brian D. Hobbs, Quan Sun, Praveen Surendran

7. A form of muscular dystrophy associated with pathogenic variants in JAG2

   Publication date: 3 June 2021

   Source: The American Journal of Human Genetics, Volume 108, Issue 6

   Author(s): Sandra Coppens, Alison M. Barnard, Sanna Puusepp, Sander Pajusalu, Katrin Õunap, Dorianmarie Vargas-Franco, Christine C. Bruels, Sandra Donkervoort, Lynn Pais, Katherine R. Chao, Julia K. Goodrich, Eleina M. England, Ben Weisburd, Vijay S. Ganesh, Sanna Gudmundsson, Anne O’Donnell-Luria, Mait Nigul, Pilvi Ilves, Payam Mohassel, Teepu Siddique

8. Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders

   Publication date: 3 June 2021

   Source: The American Journal of Human Genetics, Volume 108, Issue 6

   Author(s): Erfan Aref-Eshghi, Jennifer Kerkhof, Victor P. Pedro, Groupe DI France, Mouna Barat-Houari, Nathalie Ruiz-Pallares, Jean-Christophe Andrau, Didier Lacombe, Julien Van-Gils, Patricia Fergelot, Christéle Dubourg, Valerie Cormier-Daire, Sophie Rondeau, François Lecoquierre, Pascale Saugier-Veber, Gaël Nicolas, Gaetan Lesca, Nicolas Chatron, Damien Sanlaville, Antonio Vitobello

9. Impaired glucose-1,6-biphosphate production due to bi-allelic PGM2L1 mutations is associated with a neurodevelopmental disorder

   Publication date: 3 June 2021

   Source: The American Journal of Human Genetics, Volume 108, Issue 6

   Author(s): Eva Morava, Ulrich A. Schatz, Pernille M. Torring, Mary-Alice Abbott, Matthias Baumann, Charlotte Brasch-Andersen, Nathalie Chevalier, Ulrike Dunkhase-Heinl, Martin Fleger, Tobias B. Haack, Stephen Nelson, Sven Potelle, Silvia Radenkovic, Guido T. Bommer, Emile Van Schaftingen, Maria Veiga-da-Cunha

10. Heterozygous ANKRD17 loss-of-function variants cause a syndrome with intellectual disability, speech delay, and dysmorphism

    Publication date: 3 June 2021

    Source: The American Journal of Human Genetics, Volume 108, Issue 6

    Author(s): Maya Chopra, Meriel McEntagart, Jill Clayton-Smith, Konrad Platzer, Anju Shukla, Katta M. Girisha, Anupriya Kaur, Parneet Kaur, Rolph Pfundt, Hermine Veenstra-Knol, Grazia M.S. Mancini, Gerarda Cappuccio, Nicola Brunetti-Pierri, Fanny Kortüm, Maja Hempel, Jonas Denecke, Anna Lehman, CAUSES Study, Tjitske Kleefstra, Kyra E. Stuurman, Martina Wilke

11. Bi-allelic variants in IPO8 cause a connective tissue disorder associated with cardiovascular defects, skeletal abnormalities, and immune dysregulation

    Publication date: 3 June 2021

    Source: The American Journal of Human Genetics, Volume 108, Issue 6

    Author(s): Alban Ziegler, Rémi Duclaux-Loras, Céline Revenu, Fabienne Charbit-Henrion, Bernadette Begue, Karine Duroure, Linda Grimaud, Anne Laure Guihot, Valérie Desquiret-Dumas, Mohammed Zarhrate, Nicolas Cagnard, Emmanuel Mas, Anne Breton, Thomas Edouard, Clarisse Billon, Michael Frank, Estelle Colin, Guy Lenaers, Daniel Henrion, Stanislas Lyonnet

12. A human importin-β-related disorder: Syndromic thoracic aortic aneurysm caused by bi-allelic loss-of-function variants in IPO8

    Publication date: 3 June 2021

    Source: The American Journal of Human Genetics, Volume 108, Issue 6

    Author(s): Ilse Van Gucht, Josephina A.N. Meester, Jotte Rodrigues Bento, Maaike Bastiaansen, Jarl Bastianen, Ilse Luyckx, Lotte Van Den Heuvel, Cédric H.G. Neutel, Pieter-Jan Guns, Mandy Vermont, Erik Fransen, Melanie H.A.M. Perik, Joe Davis Velchev, Maaike Alaerts, Dorien Schepers, Silke Peeters, Isabel Pintelon, Abdulrahman Almesned, Matteo P. Ferla, Jenny C. Taylor

13. Bi-allelic premature truncating variants in LTBP1 cause cutis laxa syndrome

    Publication date: 3 June 2021

    Source: The American Journal of Human Genetics, Volume 108, Issue 6

    Author(s): Lore Pottie, Christin S. Adamo, Aude Beyens, Steffen Lütke, Piyanoot Tapaneeyaphan, Adelbert De Clercq, Phil L. Salmon, Riet De Rycke, Alper Gezdirici, Elif Yilmaz Gulec, Naz Khan, Jill E. Urquhart, William G. Newman, Kay Metcalfe, Stephanie Efthymiou, Reza Maroofian, Najwa Anwar, Shazia Maqbool, Fatima Rahman, Ikhlass Altweijri

14. Non-coding region variants upstream of MEF2C cause severe developmental disorder through three distinct loss-of-function mechanisms

    Publication date: 3 June 2021

    Source: The American Journal of Human Genetics, Volume 108, Issue 6

    Author(s): Caroline F. Wright, Nicholas M. Quaife, Laura Ramos-Hernández, Petr Danecek, Matteo P. Ferla, Kaitlin E. Samocha, Joanna Kaplanis, Eugene J. Gardner, Ruth Y. Eberhardt, Katherine R. Chao, Konrad J. Karczewski, Joannella Morales, Giuseppe Gallone, Meena Balasubramanian, Siddharth Banka, Lianne Gompertz, Bronwyn Kerr, Amelia Kirby, Sally A. Lynch, Jenny E.V. Morton

15. Bi-allelic loss-of-function variants in BCAS3 cause a syndromic neurodevelopmental disorder

    Publication date: 3 June 2021

    Source: The American Journal of Human Genetics, Volume 108, Issue 6

    Author(s): Holger Hengel, Shabab B. Hannan, Sarah Dyack, Sara B. MacKay, Ulrich Schatz, Martin Fleger, Andreas Kurringer, Ghassan Balousha, Zaid Ghanim, Fowzan S. Alkuraya, Hamad Alzaidan, Hessa S. Alsaif, Tadahiro Mitani, Sevcan Bozdogan, Davut Pehlivan, James R. Lupski, Joseph J. Gleeson, Mohammadreza Dehghani, Mohammad Y.V. Mehrjardi, Elliott H. Sherr

16. Truncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signature

    Publication date: 3 June 2021

    Source: The American Journal of Human Genetics, Volume 108, Issue 6

    Author(s): Dmitrijs Rots, Eric Chater-Diehl, Alexander J.M. Dingemans, Sarah J. Goodman, Michelle T. Siu, Cheryl Cytrynbaum, Sanaa Choufani, Ny Hoang, Susan Walker, Zain Awamleh, Joshua Charkow, Stephen Meyn, Rolph Pfundt, Tuula Rinne, Thatjana Gardeitchik, Bert B.A. de Vries, A. Chantal Deden, Erika Leenders, Michael Kwint, Constance T.R.M. Stumpel

17. A mutation in SLC37A4 causes a dominantly inherited congenital disorder of glycosylation characterized by liver dysfunction

    Publication date: 3 June 2021

    Source: The American Journal of Human Genetics, Volume 108, Issue 6

    Author(s): Bobby G. Ng, Paulina Sosicka, François Fenaille, Annie Harroche, Sandrine Vuillaumier-Barrot, Mindy Porterfield, Zhi-Jie Xia, Shannon Wagner, Michael J. Bamshad, Marie-Christine Vergnes-Boiteux, Sophie Cholet, Stephen Dalton, Anne Dell, Thierry Dupré, Mathieu Fiore, Stuart M. Haslam, Yohann Huguenin, Tadahiro Kumagai, Michael Kulik, Katherine McGoogan

18. Altered replication stress response due to CARD14 mutations promotes recombination-induced revertant mosaicism

    Publication date: 3 June 2021

    Source: The American Journal of Human Genetics, Volume 108, Issue 6

    Author(s): Toshinari Miyauchi, Shotaro Suzuki, Masae Takeda, Jin Teng Peh, Masayuki Aiba, Ken Natsuga, Yasuyuki Fujita, Takuya Takeichi, Taiko Sakamoto, Masashi Akiyama, Hiroshi Shimizu, Toshifumi Nomura

19. A computational approach for detecting physiological homogeneity in the midst of genetic heterogeneity

    Publication date: 3 June 2021

    Source: The American Journal of Human Genetics, Volume 108, Issue 6

    Author(s): Peng Zhang, Aurélie Cobat, Yoon-Seung Lee, Yiming Wu, Cigdem Sevim Bayrak, Clémentine Boccon-Gibod, Daniela Matuozzo, Lazaro Lorenzo, Aayushee Jain, Soraya Boucherit, Louis Vallée, Burkhard Stüve, Stéphane Chabrier, Jean-Laurent Casanova, Laurent Abel, Shen-Ying Zhang, Yuval Itan

20. Leveraging both individual-level genetic data and GWAS summary statistics increases polygenic prediction

    Publication date: 3 June 2021

    Source: The American Journal of Human Genetics, Volume 108, Issue 6

    Author(s): Clara Albiñana, Jakob Grove, John J. McGrath, Esben Agerbo, Naomi R. Wray, Cynthia M. Bulik, Merete Nordentoft, David M. Hougaard, Thomas Werge, Anders D. Børglum, Preben Bo Mortensen, Florian Privé, Bjarni J. Vilhjálmsson

21. EPISPOT: An epigenome-driven approach for detecting and interpreting hotspots in molecular QTL studies

    Publication date: 3 June 2021

    Source: The American Journal of Human Genetics, Volume 108, Issue 6

    Author(s): Hélène Ruffieux, Benjamin P. Fairfax, Isar Nassiri, Elena Vigorito, Chris Wallace, Sylvia Richardson, Leonardo Bottolo

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

    Publication date: 3 June 2021

    Source: The American Journal of Human Genetics, Volume 108, Issue 6

    Author(s): Epi25 Collaborative

23. This month in The Journal

    Publication date: 3 June 2021

    Source: The American Journal of Human Genetics, Volume 108, Issue 6

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

24. Pan-ancestry exome-wide association analyses of COVID-19 outcomes in 586,157 individuals

    Publication date: Available online 3 June 2021

    Source: The American Journal of Human Genetics

    Author(s): Jack A. Kosmicki, Julie E. Horowitz, Nilanjana Banerjee, Rouel Lanche, Anthony Marcketta, Evan Maxwell, Xiaodong Bai, Dylan Sun, Joshua D. Backman, Deepika Sharma, Fabricio S.P. Kury, Hyun M. Kang, Colm O’Dushlaine, Ashish Yadav, Adam J. Mansfield, Alexander H. Li, Kyoko Watanabe, Lauren Gurski, Shane E. McCarthy, Adam E. Locke

25. Large-scale machine learning-based phenotyping significantly improves genomic discovery for optic nerve head morphology

    Publication date: Available online 1 June 2021

    Source: The American Journal of Human Genetics

    Author(s): Babak Alipanahi, Farhad Hormozdiari, Babak Behsaz, Justin Cosentino, Zachary R. McCaw, Emanuel Schorsch, D. Sculley, Elizabeth H. Dorfman, Paul J. Foster, Lily H. Peng, Sonia Phene, Naama Hammel, Andrew Carroll, Anthony P. Khawaja, Cory Y. McLean

26. Automated AI labeling of optic nerve head enables insights into cross-ancestry glaucoma risk and genetic discovery in >280,000 images from UKB and CLSA

    Publication date: Available online 1 June 2021

    Source: The American Journal of Human Genetics

    Author(s): Xikun Han, Kaiah Steven, Ayub Qassim, Henry N. Marshall, Cameron Bean, Michael Tremeer, Jiyuan An, Owen M. Siggs, Puya Gharahkhani, Jamie E. Craig, Alex W. Hewitt, Maciej Trzaskowski, Stuart MacGregor

27. Mutations in TP73 cause impaired mucociliary clearance and lissencephaly

    Publication date: Available online 1 June 2021

    Source: The American Journal of Human Genetics

    Author(s): Julia Wallmeier, Diana Bracht, Hessa S. Alsaif, Gerard W. Dougherty, Heike Olbrich, Sandra Cindric, Mark Dzietko, Christoph Heyer, Norbert Teig, Charlotte Thiels, Eissa Faqeih, Aqeela Al-Hashim, Sameena Khan, Ibrahim Mogarri, Mohammed Almannai, Wadha Al Otaibi, Fowzan S. Alkuraya, Cordula Koerner-Rettberg, Heymut Omran

28. Loss of C2orf69 defines a fatal autoinflammatory syndrome in humans and zebrafish that evokes a glycogen storage-associated mitochondriopathy

    Publication date: Available online 25 May 2021

    Source: The American Journal of Human Genetics

    Author(s): Hui Hui Wong, Sze Hwee Seet, Michael Maier, Ayse Gurel, Ricardo Moreno Traspas, Cheryl Lee, Shan Zhang, Beril Talim, Abigail Y.T. Loh, Crystal Y. Chia, Tze Shin Teoh, Danielle Sng, Jarred Rensvold, Sule Unal, Evgenia Shishkova, Ece Cepni, Fatima M. Nathan, Fernanda L. Sirota, Chao Liang, Nese Yarali

29. Genetic effects on liver chromatin accessibility identify disease regulatory variants

    Publication date: Available online 25 May 2021

    Source: The American Journal of Human Genetics

    Author(s): Kevin W. Currin, Michael R. Erdos, Narisu Narisu, Vivek Rai, Swarooparani Vadlamudi, Hannah J. Perrin, Jacqueline R. Idol, Tingfen Yan, Ricardo D’Oliveira Albanus, K. Alaine Broadaway, Amy S. Etheridge, Lori L. Bonnycastle, Peter Orchard, John P. Didion, Amarjit S. Chaudhry, Beatrice B. Barnabas, Sean Black, Gerard G. Bouffard, Shelise Y. Brooks, Holly Coleman

30. Estimation of non-additive genetic variance in human complex traits from a large sample of unrelated individuals

    Publication date: 6 May 2021

    Source: The American Journal of Human Genetics, Volume 108, Issue 5

    Author(s): Valentin Hivert, Julia Sidorenko, Florian Rohart, Michael E. Goddard, Jian Yang, Naomi R. Wray, Loic Yengo, Peter M. Visscher