The American Journal of Human Genetics

1. A flexible summary statistics-based colocalization method with application to the mucin cystic fibrosis lung disease modifier locus

   Publication date: Available online 21 January 2022

   Source: The American Journal of Human Genetics

   Author(s): Fan Wang, Naim Panjwani, Cheng Wang, Lei Sun, Lisa J. Strug

2. MRSD: A quantitative approach for assessing suitability of RNA-seq in the investigation of mis-splicing in Mendelian disease

   Publication date: Available online 21 January 2022

   Source: The American Journal of Human Genetics

   Author(s): Charlie F. Rowlands, Algy Taylor, Gillian Rice, Nicola Whiffin, Hildegard Nikki Hall, William G. Newman, Graeme C.M. Black, kConFab Investigators, Raymond T. O’Keefe, Simon Hubbard, Andrew G.L. Douglas, Diana Baralle, Tracy A. Briggs, Jamie M. Ellingford

3. PhenoApt leverages clinical expertise to prioritize candidate genes via machine learning

   Publication date: Available online 20 January 2022

   Source: The American Journal of Human Genetics

   Author(s): Zefu Chen, Yu Zheng, Yongxin Yang, Yingzhao Huang, Sen Zhao, Hengqiang Zhao, Chenxi Yu, Xiying Dong, Yuanqiang Zhang, Lianlei Wang, Zhengye Zhao, Shengru Wang, Yang Yang, Yue Ming, Jianzhong Su, Guixing Qiu, Zhihong Wu, Terry Jianguo Zhang, Nan Wu

4. Rare germline heterozygous missense variants in BRCA1-associated protein 1, BAP1, cause a syndromic neurodevelopmental disorder

   Publication date: Available online 19 January 2022

   Source: The American Journal of Human Genetics

   Author(s): Sébastien Küry, Frédéric Ebstein, Alice Mollé, Thomas Besnard, Ming-Kang Lee, Virginie Vignard, Tiphaine Hery, Mathilde Nizon, Grazia M.S. Mancini, Jacques C. Giltay, Benjamin Cogné, Kirsty McWalter, Wallid Deb, Hagar Mor-Shaked, Hong Li, Rhonda E. Schnur, Ingrid M. Wentzensen, Anne-Sophie Denommé-Pichon, Cynthia Fourgeux, Frans W. Verheijen

5. Impaired catabolism of free oligosaccharides due to MAN2C1 variants causes a neurodevelopmental disorder

   Publication date: Available online 18 January 2022

   Source: The American Journal of Human Genetics

   Author(s): Nuno Maia, Sven Potelle, Hamide Yildirim, Sandrine Duvet, Shyam K. Akula, Celine Schulz, Elsa Wiame, Alexander Gheldof, Katherine O’Kane, Abbe Lai, Karen Sermon, Maïa Proisy, Philippe Loget, Tania Attié-Bitach, Chloé Quelin, Ana Maria Fortuna, Ana Rita Soares, Arjan P.M. de Brouwer, Emile Van Schaftingen, Marie-Cécile Nassogne

6. StrVCTVRE: A supervised learning method to predict the pathogenicity of human genome structural variants

   Publication date: Available online 14 January 2022

   Source: The American Journal of Human Genetics

   Author(s): Andrew G. Sharo, Zhiqiang Hu, Shamil R. Sunyaev, Steven E. Brenner

7. The genetic architecture of pediatric cardiomyopathy

   Publication date: Available online 12 January 2022

   Source: The American Journal of Human Genetics

   Author(s): Stephanie M. Ware, Surbhi Bhatnagar, Phillip J. Dexheimer, James D. Wilkinson, Arthi Sridhar, Xiao Fan, Yufeng Shen, Muhammad Tariq, Jeffrey A. Schubert, Steven D. Colan, Ling Shi, Charles E. Canter, Daphne T. Hsu, Neha Bansal, Steven A. Webber, Melanie D. Everitt, Paul F. Kantor, Joseph W. Rossano, Elfriede Pahl, Paolo Rusconi

8. Accurate long-read sequencing allows assembly of the duplicated RHD and RHCE genes harboring variants relevant to blood transfusion

   Publication date: 6 January 2022

   Source: The American Journal of Human Genetics, Volume 109, Issue 1

   Author(s): Zhe Zhang, Hyun Hyung An, Sunitha Vege, Taishan Hu, Shiping Zhang, Timothy Mosbruger, Pushkala Jayaraman, Dimitri Monos, Connie M. Westhoff, Stella T. Chou

9. Longer CAG repeat length is associated with shorter survival after disease onset in Huntington disease

   Publication date: 6 January 2022

   Source: The American Journal of Human Genetics, Volume 109, Issue 1

   Author(s): Douglas R. Langbehn, for the Registry Investigators of the European Huntington Disease Network

10. Bi-allelic variants in DNHD1 cause flagellar axoneme defects and asthenoteratozoospermia in humans and mice

    Publication date: 6 January 2022

    Source: The American Journal of Human Genetics, Volume 109, Issue 1

    Author(s): Chen Tan, Lanlan Meng, Mingrong Lv, Xiaojin He, Yanwei Sha, Dongdong Tang, Yaqi Tan, Tongyao Hu, Wenbin He, Chaofeng Tu, Hongchuan Nie, Huan Zhang, Juan Du, Guangxiu Lu, Li-qing Fan, Yunxia Cao, Ge Lin, Yue-Qiu Tan

11. Monoallelic IFT140 pathogenic variants are an important cause of the autosomal dominant polycystic kidney-spectrum phenotype

    Publication date: 6 January 2022

    Source: The American Journal of Human Genetics, Volume 109, Issue 1

    Author(s): Sarah R. Senum, Ying (Sabrina) M. Li, Katherine A. Benson, Giancarlo Joli, Eric Olinger, Sravanthi Lavu, Charles D. Madsen, Adriana V. Gregory, Ruxandra Neatu, Timothy L. Kline, Marie-Pierre Audrézet, Patricia Outeda, Cherie B. Nau, Esther Meijer, Hamad Ali, Theodore I. Steinman, Michal Mrug, Paul J. Phelan, Terry J. Watnick, Dorien J.M. Peters

12. Functional analysis of the 1p34.3 risk locus implicates GNL2 in high-grade serous ovarian cancer

    Publication date: 6 January 2022

    Source: The American Journal of Human Genetics, Volume 109, Issue 1

    Author(s): Koji Nakamura, Brett M. Reid, Ann Chen, Zhihua Chen, Ellen L. Goode, Jennifer B. Permuth, Jamie K. Teer, Jonathan Tyrer, Xiaoqing Yu, Peter A. Kanetsky, Paul D. Pharoah, Simon A. Gayther, Thomas A. Sellers, Kate Lawrenson, Florian A. Karreth

13. Estrogen receptor alpha and NFATc1 bind to a bone mineral density-associated SNP to repress WNT5B in osteoblasts

    Publication date: 6 January 2022

    Source: The American Journal of Human Genetics, Volume 109, Issue 1

    Author(s): Sarocha Suthon, Jianjian Lin, Rachel S. Perkins, John R. Crockarell, Gustavo A. Miranda-Carboni, Susan A. Krum

14. Rare coding variants in 35 genes associate with circulating lipid levels—A multi-ancestry analysis of 170,000 exomes

    Publication date: 6 January 2022

    Source: The American Journal of Human Genetics, Volume 109, Issue 1

    Author(s): George Hindy, Peter Dornbos, Mark D. Chaffin, Dajiang J. Liu, Minxian Wang, Margaret Sunitha Selvaraj, David Zhang, Joseph Park, Carlos A. Aguilar-Salinas, Lucinda Antonacci-Fulton, Diego Ardissino, Donna K. Arnett, Stella Aslibekyan, Gil Atzmon, Christie M. Ballantyne, Francisco Barajas-Olmos, Nir Barzilai, Lewis C. Becker, Lawrence F. Bielak, Joshua C. Bis

15. Subcutaneous adipose tissue splice quantitative trait loci reveal differences in isoform usage associated with cardiometabolic traits

    Publication date: 6 January 2022

    Source: The American Journal of Human Genetics, Volume 109, Issue 1

    Author(s): Sarah M. Brotman, Chelsea K. Raulerson, Swarooparani Vadlamudi, Kevin W. Currin, Qiujin Shen, Victoria A. Parsons, Apoorva K. Iyengar, Tamara S. Roman, Terrence S. Furey, Johanna Kuusisto, Francis S. Collins, Michael Boehnke, Markku Laakso, Päivi Pajukanta, Karen L. Mohlke

16. Genetic architecture of gene regulation in Indonesian populations identifies QTLs associated with global and local ancestries

    Publication date: 6 January 2022

    Source: The American Journal of Human Genetics, Volume 109, Issue 1

    Author(s): Heini M. Natri, Georgi Hudjashov, Guy Jacobs, Pradiptajati Kusuma, Lauri Saag, Chelzie Crenna Darusallam, Mait Metspalu, Herawati Sudoyo, Murray P. Cox, Irene Gallego Romero, Nicholas E. Banovich

17. Overcoming constraints on the detection of recessive selection in human genes from population frequency data

    Publication date: 6 January 2022

    Source: The American Journal of Human Genetics, Volume 109, Issue 1

    Author(s): Daniel J. Balick, Daniel M. Jordan, Shamil Sunyaev, Ron Do

18. Fast estimation of genetic correlation for biobank-scale data

    Publication date: 6 January 2022

    Source: The American Journal of Human Genetics, Volume 109, Issue 1

    Author(s): Yue Wu, Kathryn S. Burch, Andrea Ganna, Päivi Pajukanta, Bogdan Pasaniuc, Sriram Sankararaman

19. Portability of 245 polygenic scores when derived from the UK Biobank and applied to 9 ancestry groups from the same cohort

    Publication date: 6 January 2022

    Source: The American Journal of Human Genetics, Volume 109, Issue 1

    Author(s): Florian Privé, Hugues Aschard, Shai Carmi, Lasse Folkersen, Clive Hoggart, Paul F. O’Reilly, Bjarni J. Vilhjálmsson

20. Stephen T. Warren, Ph.D. (1953–2021): A remembrance

    Publication date: 6 January 2022

    Source: The American Journal of Human Genetics, Volume 109, Issue 1

    Author(s): David L. Nelson, Janelle Clark, Kathryn Garber, Thomas Glover, Terry Hassold, Peng Jin, Harry T. Orr, Stephanie L. Sherman, Huda Zoghbi, Karen L. Warren

21. This month in The Journal

    Publication date: 6 January 2022

    Source: The American Journal of Human Genetics, Volume 109, Issue 1

    Author(s): Sara B. Cullinan

22. Improved pathogenicity prediction for rare human missense variants

    Publication date: 2 December 2021

    Source: The American Journal of Human Genetics, Volume 108, Issue 12

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

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

    Publication date: 2 December 2021

    Source: The American Journal of Human Genetics, Volume 108, Issue 12

    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

24. Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome

    Publication date: 2 December 2021

    Source: The American Journal of Human Genetics, Volume 108, Issue 12

    Author(s): Shereen G. Ghosh, Kerstin Becker, He Huang, Tracy D. Salazar, Guoliang Chai, Vincenzo Salpietro, Lihadh Al-Gazali, Quinten Waisfisz, Haicui Wang, Keith K. Vaux, Valentina Stanley, Andreea Manole, Ugur Akpulat, Marjan M. Weiss, Stephanie Efthymiou, Michael G. Hanna, Carlo Minetti, Pasquale Striano, Livia Pisciotta, Elisa De Grandis

25. Bi-allelic variants in OGDHL cause a neurodevelopmental spectrum disease featuring epilepsy, hearing loss, visual impairment, and ataxia

    Publication date: 2 December 2021

    Source: The American Journal of Human Genetics, Volume 108, Issue 12

    Author(s): Zheng Yie Yap, Stephanie Efthymiou, Simone Seiffert, Karen Vargas Parra, Sukyeong Lee, Alessia Nasca, Reza Maroofian, Isabelle Schrauwen, Manuela Pendziwiat, Sunhee Jung, Elizabeth Bhoj, Pasquale Striano, Kshitij Mankad, Barbara Vona, Sanmati Cuddapah, Anja Wagner, Javeria Raza Alvi, Elham Davoudi-Dehaghani, Mohammad-Sadegh Fallah, Srinitya Gannavarapu

26. Bayesian model comparison for rare-variant association studies

    Publication date: 2 December 2021

    Source: The American Journal of Human Genetics, Volume 108, Issue 12

    Author(s): Guhan Ram Venkataraman, Christopher DeBoever, Yosuke Tanigawa, Matthew Aguirre, Alexander G. Ioannidis, Hakhamanesh Mostafavi, Chris C.A. Spencer, Timothy Poterba, Carlos D. Bustamante, Mark J. Daly, Matti Pirinen, Manuel A. Rivas

27. Genome-wide analysis of common and rare variants via multiple knockoffs at biobank scale, with an application to Alzheimer disease genetics

    Publication date: 2 December 2021

    Source: The American Journal of Human Genetics, Volume 108, Issue 12

    Author(s): Zihuai He, Yann Le Guen, Linxi Liu, Justin Lee, Shiyang Ma, Andrew C. Yang, Xiaoxia Liu, Jarod Rutledge, Patricia Moran Losada, Bowen Song, Michael E. Belloy, Robert R. Butler, Frank M. Longo, Hua Tang, Elizabeth C. Mormino, Tony Wyss-Coray, Michael D. Greicius, Iuliana Ionita-Laza

28. Welch-weighted Egger regression reduces false positives due to correlated pleiotropy in Mendelian randomization

    Publication date: 2 December 2021

    Source: The American Journal of Human Genetics, Volume 108, Issue 12

    Author(s): Brielin C. Brown, David A. Knowles

29. Identification of discriminative gene-level and protein-level features associated with pathogenic gain-of-function and loss-of-function variants

    Publication date: 2 December 2021

    Source: The American Journal of Human Genetics, Volume 108, Issue 12

    Author(s): Cigdem Sevim Bayrak, David Stein, Aayushee Jain, Kumardeep Chaudhary, Girish N. Nadkarni, Tielman T. Van Vleck, Anne Puel, Stephanie Boisson-Dupuis, Satoshi Okada, Peter D. Stenson, David N. Cooper, Avner Schlessinger, Yuval Itan

30. H3K27ac HiChIP in prostate cell lines identifies risk genes for prostate cancer susceptibility

    Publication date: 2 December 2021

    Source: The American Journal of Human Genetics, Volume 108, Issue 12

    Author(s): Claudia Giambartolomei, Ji-Heui Seo, Tommer Schwarz, Malika Kumar Freund, Ruth Dolly Johnson, Sandor Spisak, Sylvan C. Baca, Alexander Gusev, Nicholas Mancuso, Bogdan Pasaniuc, Matthew L. Freedman