The American Journal of Human Genetics

1. Mendelian pathway analysis of laboratory traits reveals distinct roles for ciliary subcompartments in common disease pathogenesis

   Publication date: Available online 25 February 2021

   Source: The American Journal of Human Genetics

   Author(s): Theodore George Drivas, Anastasia Lucas, Xinyuan Zhang, Marylyn DeRiggi Ritchie

2. Integrative analysis of liver-specific non-coding regulatory SNPs associated with the risk of coronary artery disease

   Publication date: Available online 23 February 2021

   Source: The American Journal of Human Genetics

   Author(s): Ilakya Selvarajan, Anu Toropainen, Kristina M. Garske, Maykel López Rodríguez, Arthur Ko, Zong Miao, Dorota Kaminska, Kadri Õunap, Tiit Örd, Aarthi Ravindran, Oscar H. Liu, Pierre R. Moreau, Ashik Jawahar Deen, Ville Männistö, Calvin Pan, Anna-Liisa Levonen, Aldons J. Lusis, Sami Heikkinen, Casey E. Romanoski, Jussi Pihlajamäki

3. Homozygous pathogenic variants in ACTL9 cause fertilization failure and male infertility in humans and mice

   Publication date: Available online 23 February 2021

   Source: The American Journal of Human Genetics

   Author(s): Jing Dai, Tianlei Zhang, Jing Guo, Qinwei Zhou, Yifan Gu, Jue Zhang, Liang Hu, Yurong Zong, Juan Song, Shuoping Zhang, Can Dai, Fei Gong, Guangxiu Lu, Wei Zheng, Ge Lin

4. Strong functional data for pathogenicity or neutrality classify BRCA2 DNA-binding-domain variants of uncertain significance

   Publication date: Available online 19 February 2021

   Source: The American Journal of Human Genetics

   Author(s): Marcy E. Richardson, Chunling Hu, Kun Y. Lee, Holly LaDuca, Kelly Fulk, Kate M. Durda, Ashley M. Deckman, David E. Goldgar, Alvaro N.A. Monteiro, Rohan Gnanaolivu, Steven N. Hart, Eric C. Polley, Elizabeth Chao, Tina Pesaran, Fergus J. Couch

5. Loss of α-actinin-3 during human evolution provides superior cold resilience and muscle heat generation

   Publication date: Available online 17 February 2021

   Source: The American Journal of Human Genetics

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

6. Whole-genome sequencing of African Americans implicates differential genetic architecture in inflammatory bowel disease

   Publication date: Available online 17 February 2021

   Source: The American Journal of Human Genetics

   Author(s): Hari K. Somineni, Sini Nagpal, Suresh Venkateswaran, David J. Cutler, David T. Okou, Talin Haritunians, Claire L. Simpson, Ferdouse Begum, Lisa W. Datta, Antonio J. Quiros, Jenifer Seminerio, Emebet Mengesha, Jonathan S. Alexander, Robert N. Baldassano, Sharon Dudley-Brown, Raymond K. Cross, Themistocles Dassopoulos, Lee A. Denson, Tanvi A. Dhere, Heba Iskandar

7. SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females

   Publication date: Available online 16 February 2021

   Source: The American Journal of Human Genetics

   Author(s): Francesca Clementina Radio, Kaifang Pang, Andrea Ciolfi, Michael A. Levy, Andrés Hernández-García, Lucia Pedace, Francesca Pantaleoni, Zhandong Liu, Elke de Boer, Adam Jackson, Alessandro Bruselles, Haley McConkey, Emilia Stellacci, Stefania Lo Cicero, Marialetizia Motta, Rosalba Carrozzo, Maria Lisa Dentici, Kirsty McWalter, Megha Desai, Kristin G. Monaghan

8. Genetic control of the human brain proteome

   Publication date: Available online 10 February 2021

   Source: The American Journal of Human Genetics

   Author(s): Chloe Robins, Yue Liu, Wen Fan, Duc M. Duong, Jacob Meigs, Nadia V. Harerimana, Ekaterina S. Gerasimov, Eric B. Dammer, David J. Cutler, Thomas G. Beach, Eric M. Reiman, Philip L. De Jager, David A. Bennett, James J. Lah, Aliza P. Wingo, Allan I. Levey, Nicholas T. Seyfried, Thomas S. Wingo

9. Topologically associating domain boundaries that are stable across diverse cell types are evolutionarily constrained and enriched for heritability

   Publication date: 4 February 2021

   Source: The American Journal of Human Genetics, Volume 108, Issue 2

   Author(s): Evonne McArthur, John A. Capra

10. HiC-ACT: improved detection of chromatin interactions from Hi-C data via aggregated Cauchy test

    Publication date: 4 February 2021

    Source: The American Journal of Human Genetics, Volume 108, Issue 2

    Author(s): Taylor M. Lagler, Armen Abnousi, Ming Hu, Yuchen Yang, Yun Li

11. Multi-trait transcriptome-wide association studies with probabilistic Mendelian randomization

    Publication date: 4 February 2021

    Source: The American Journal of Human Genetics, Volume 108, Issue 2

    Author(s): Lu Liu, Ping Zeng, Fuzhong Xue, Zhongshang Yuan, Xiang Zhou

12. Disentangling selection on genetically correlated polygenic traits via whole-genome genealogies

    Publication date: 4 February 2021

    Source: The American Journal of Human Genetics, Volume 108, Issue 2

    Author(s): Aaron J. Stern, Leo Speidel, Noah A. Zaitlen, Rasmus Nielsen

13. The diagnostic odyssey: our family’s story

    Publication date: 4 February 2021

    Source: The American Journal of Human Genetics, Volume 108, Issue 2

    Author(s): Danny Miller

14. Albert de la Chapelle (1933–2020)

    Publication date: 4 February 2021

    Source: The American Journal of Human Genetics, Volume 108, Issue 2

    Author(s): Amanda Ewart Toland, Heather Hampel

15. Recognizing those who deal with rare disease every day

    Publication date: 4 February 2021

    Source: The American Journal of Human Genetics, Volume 108, Issue 2

    Author(s): Bruce R. Korf

16. This month in The Journal

    Publication date: 4 February 2021

    Source: The American Journal of Human Genetics, Volume 108, Issue 2

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

17. Rare and de novo coding variants in chromodomain genes in Chiari I malformation

    Publication date: 4 February 2021

    Source: The American Journal of Human Genetics, Volume 108, Issue 2

    Author(s): Brooke Sadler, Jackson Wilborn, Lilian Antunes, Timothy Kuensting, Andrew T. Hale, Stephen R. Gannon, Kevin McCall, Carlos Cruchaga, Matthew Harms, Norine Voisin, Alexandre Reymond, Gerarda Cappuccio, Nicola Brunetti-Pierri, Marco Tartaglia, Marcello Niceta, Chiara Leoni, Giuseppe Zampino, Allison Ashley-Koch, Aintzane Urbizu, Melanie E. Garrett

18. Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction

    Publication date: 4 February 2021

    Source: The American Journal of Human Genetics, Volume 108, Issue 2

    Author(s): Joery den Hoed, Elke de Boer, Norine Voisin, Alexander J.M. Dingemans, Nicolas Guex, Laurens Wiel, Christoffer Nellaker, Shivarajan M. Amudhavalli, Siddharth Banka, Frederique S. Bena, Bruria Ben-Zeev, Vincent R. Bonagura, Ange-Line Bruel, Theresa Brunet, Han G. Brunner, Hui B. Chew, Jacqueline Chrast, Loreta Cimbalistienė, Hilary Coon, The DDD Study, Emmanuèlle C. Délot

19. Perturbations of genes essential for Müllerian duct and Wölffian duct development in Mayer-Rokitansky-Küster-Hauser syndrome

    Publication date: 4 February 2021

    Source: The American Journal of Human Genetics, Volume 108, Issue 2

    Author(s): Na Chen, Sen Zhao, Angad Jolly, Lianlei Wang, Hongxin Pan, Jian Yuan, Shaoke Chen, André Koch, Congcong Ma, Weijie Tian, Ziqi Jia, Jia Kang, Lina Zhao, Chenglu Qin, Xin Fan, Katharina Rall, Zeynep Coban-Akdemir, Zefu Chen, Shalini Jhangiani, Ze Liang

20. Homozygous mutations in C14orf39/SIX6OS1 cause non-obstructive azoospermia and premature ovarian insufficiency in humans

    Publication date: 4 February 2021

    Source: The American Journal of Human Genetics, Volume 108, Issue 2

    Author(s): Suixing Fan, Yuying Jiao, Ranjha Khan, Xiaohua Jiang, Abdul Rafay Javed, Asim Ali, Huan Zhang, Jianteng Zhou, Muhammad Naeem, Ghulam Murtaza, Yang Li, Gang Yang, Qumar Zaman, Muhammad Zubair, Haiyang Guan, Xingxia Zhang, Hui Ma, Hanwei Jiang, Haider Ali, Sobia Dil

21. Deleterious variants in X-linked CFAP47 induce asthenoteratozoospermia and primary male infertility

    Publication date: 4 February 2021

    Source: The American Journal of Human Genetics, Volume 108, Issue 2

    Author(s): Chunyu Liu, Chaofeng Tu, Lingbo Wang, Huan Wu, Brendan J. Houston, Francesco K. Mastrorosa, Wen Zhang, Ying Shen, Jiaxiong Wang, Shixiong Tian, Lanlan Meng, Jiangshan Cong, Shenmin Yang, Yiwen Jiang, Shuyan Tang, Yuyan Zeng, Mingrong Lv, Ge Lin, Jinsong Li, Hexige Saiyin

22. De novo TRIM8 variants impair its protein localization to nuclear bodies and cause developmental delay, epilepsy, and focal segmental glomerulosclerosis

    Publication date: 4 February 2021

    Source: The American Journal of Human Genetics, Volume 108, Issue 2

    Author(s): Patricia L. Weng, Amar J. Majmundar, Kamal Khan, Tze Y. Lim, Shirlee Shril, Gina Jin, John Musgrove, Minxian Wang, Dina F. Ahram, Vimla S. Aggarwal, Louise E. Bier, Erin L. Heinzen, Ana C. Onuchic-Whitford, Nina Mann, Florian Buerger, Ronen Schneider, Konstantin Deutsch, Thomas M. Kitzler, Verena Klämbt, Amy Kolb

23. Allele-specific editing ameliorates dominant retinitis pigmentosa in a transgenic mouse model

    Publication date: 4 February 2021

    Source: The American Journal of Human Genetics, Volume 108, Issue 2

    Author(s): Clarissa Patrizi, Manel Llado, Daniela Benati, Carolina Iodice, Elena Marrocco, Rosellina Guarascio, Enrico M. Surace, Michael E. Cheetham, Alberto Auricchio, Alessandra Recchia

24. Genome-wide association study identifies novel susceptibility loci for KIT D816V positive mastocytosis

    Publication date: 4 February 2021

    Source: The American Journal of Human Genetics, Volume 108, Issue 2

    Author(s): Gabriella Galatà, Andrés C. García-Montero, Thomas Kristensen, Ahmed A.Z. Dawoud, Javier I. Muñoz-González, Manja Meggendorfer, Paola Guglielmelli, Yvette Hoade, Ivan Alvarez-Twose, Christian Gieger, Konstantin Strauch, Luigi Ferrucci, Toshiko Tanaka, Stefania Bandinelli, Theresia M. Schnurr, Torsten Haferlach, Sigurd Broesby-Olsen, Hanne Vestergaard, Michael Boe Møller, Carsten Bindslev-Jensen

25. This month in The Journal

    Publication date: 7 January 2021

    Source: The American Journal of Human Genetics, Volume 108, Issue 1

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

26. SCUBE3 loss-of-function causes a recognizable recessive developmental disorder due to defective bone morphogenetic protein signaling

    Publication date: 7 January 2021

    Source: The American Journal of Human Genetics, Volume 108, Issue 1

    Author(s): Yuh-Charn Lin, Marcello Niceta, Valentina Muto, Barbara Vona, Alistair T. Pagnamenta, Reza Maroofian, Christian Beetz, Hermine van Duyvenvoorde, Maria Lisa Dentici, Peter Lauffer, Sadeq Vallian, Andrea Ciolfi, Simone Pizzi, Peter Bauer, Nana-Maria Grüning, Emanuele Bellacchio, Andrea Del Fattore, Stefania Petrini, Ranad Shaheen, Dov Tiosano

27. Identification of susceptibility loci for Takayasu arteritis through a large multi-ancestral genome-wide association study

    Publication date: 7 January 2021

    Source: The American Journal of Human Genetics, Volume 108, Issue 1

    Author(s): Lourdes Ortiz-Fernández, Güher Saruhan-Direskeneli, Fatma Alibaz-Oner, Sema Kaymaz-Tahra, Patrick Coit, Xiufang Kong, Allan P. Kiprianos, Robert T. Maughan, Sibel Z. Aydin, Kenan Aksu, Gokhan Keser, Sevil Kamali, Murat Inanc, Jason Springer, Servet Akar, Fatos Onen, Nurullah Akkoc, Nader A. Khalidi, Curry Koening, Omer Karadag

28. Distinguishing pedigree relationships via multi-way identity by descent sharing and sex-specific genetic maps

    Publication date: 7 January 2021

    Source: The American Journal of Human Genetics, Volume 108, Issue 1

    Author(s): Ying Qiao, Jens G. Sannerud, Sayantani Basu-Roy, Caroline Hayward, Amy L. Williams

29. Leveraging phenotypic variability to identify genetic interactions in human phenotypes

    Publication date: 7 January 2021

    Source: The American Journal of Human Genetics, Volume 108, Issue 1

    Author(s): Andrew R. Marderstein, Emily R. Davenport, Scott Kulm, Cristopher V. Van Hout, Olivier Elemento, Andrew G. Clark

30. PLEIO: a method to map and interpret pleiotropic loci with GWAS summary statistics

    Publication date: 7 January 2021

    Source: The American Journal of Human Genetics, Volume 108, Issue 1

    Author(s): Cue Hyunkyu Lee, Huwenbo Shi, Bogdan Pasaniuc, Eleazar Eskin, Buhm Han