The American Journal of Human Genetics

1. TCEAL1 loss-of-function results in an X-linked dominant neurodevelopmental syndrome and drives the neurological disease trait in Xq22.2 deletions

   Publication date: 1 December 2022

   Source: The American Journal of Human Genetics, Volume 109, Issue 12

   Author(s): Hadia Hijazi, Linda M. Reis, Davut Pehlivan, Jonathan A. Bernstein, Michael Muriello, Erin Syverson, Devon Bonner, Mehrdad A. Estiar, Ziv Gan-Or, Guy A. Rouleau, Ekaterina Lyulcheva, Lynn Greenhalgh, Marine Tessarech, Estelle Colin, Agnès Guichet, Dominique Bonneau, R.H. van Jaarsveld, A.M.A. Lachmeijer, Lyse Ruaud, Jonathan Levy

2. A recurrent de novo splice site variant involving DNM1 exon 10a causes developmental and epileptic encephalopathy through a dominant-negative mechanism

   Publication date: 1 December 2022

   Source: The American Journal of Human Genetics, Volume 109, Issue 12

   Author(s): Shridhar Parthasarathy, Sarah McKeown Ruggiero, Antoinette Gelot, Fernanda C Soardi, Bethânia F R Ribeiro, Douglas E V Pires, David B Ascher, Alain Schmitt, Caroline Rambaud, Alfonso Represa, Hongbo M Xie, Laina Lusk, Olivia Wilmarth, Pamela Pojomovsky McDonnell, Olivia A Juarez, Alexandra N Grace, Julien Buratti, Cyril Mignot, Domitille Gras, Caroline Nava

3. EMILIN1 deficiency causes arterial tortuosity with osteopenia and connects impaired elastogenesis with defective collagen fibrillogenesis

   Publication date: 1 December 2022

   Source: The American Journal of Human Genetics, Volume 109, Issue 12

   Author(s): Christin S. Adamo, Aude Beyens, Alvise Schiavinato, Douglas R. Keene, Sara F. Tufa, Matthias Mörgelin, Jürgen Brinckmann, Takako Sasaki, Anja Niehoff, Maren Dreiner, Lore Pottie, Laura Muiño-Mosquera, Elif Yilmaz Gulec, Alper Gezdirici, Paola Braghetta, Paolo Bonaldo, Raimund Wagener, Mats Paulsson, Helen Bornaun, Riet De Rycke

4. Massively parallel reporter assays and variant scoring identified functional variants and target genes for melanoma loci and highlighted cell-type specificity

   Publication date: 1 December 2022

   Source: The American Journal of Human Genetics, Volume 109, Issue 12

   Author(s): Erping Long, Jinhu Yin, Karen M. Funderburk, Mai Xu, James Feng, Alexander Kane, Tongwu Zhang, Timothy Myers, Alyxandra Golden, Rohit Thakur, Hyunkyung Kong, Lea Jessop, Eun Young Kim, Kristine Jones, Raj Chari, Mitchell J. Machiela, Kai Yu, Melanoma Meta-Analysis Consortium, Mark M. Iles, Maria Teresa Landi, Matthew H. Law

5. Functional characterization of 5p15.33 risk locus in uveal melanoma reveals rs452384 as a functional variant and NKX2.4 as an allele-specific interactor

   Publication date: 1 December 2022

   Source: The American Journal of Human Genetics, Volume 109, Issue 12

   Author(s): Anne-Céline Derrien, Alexandre Houy, Olivier Ganier, Florent Dingli, Massih Ningarhari, Lenha Mobuchon, María Isabel Espejo Díaz, Damarys Loew, Nathalie Cassoux, Olivier Cussenot, Géraldine Cancel-Tassin, Raphael Margueron, Josselin Noirel, Jessica Zucman-Rossi, Manuel Rodrigues, Marc-Henri Stern

6. Genome- and transcriptome-wide association studies of 386,000 Asian and European-ancestry women provide new insights into breast cancer genetics

   Publication date: 1 December 2022

   Source: The American Journal of Human Genetics, Volume 109, Issue 12

   Author(s): Guochong Jia, Jie Ping, Xiang Shu, Yaohua Yang, Qiuyin Cai, Sun-Seog Kweon, Ji-Yeob Choi, Michiaki Kubo, Sue K. Park, Manjeet K. Bolla, Joe Dennis, Qin Wang, Xingyi Guo, Bingshan Li, Ran Tao, Kristan J. Aronson, Tsun L. Chan, Yu-Tang Gao, Mikael Hartman, Weang Kee Ho

7. Estimating the genome-wide mutation rate from thousands of unrelated individuals

   Publication date: 1 December 2022

   Source: The American Journal of Human Genetics, Volume 109, Issue 12

   Author(s): Xiaowen Tian, Ruoyi Cai, Sharon R. Browning

8. Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria

   Publication date: 1 December 2022

   Source: The American Journal of Human Genetics, Volume 109, Issue 12

   Author(s): Vikas Pejaver, Alicia B. Byrne, Bing-Jian Feng, Kymberleigh A. Pagel, Sean D. Mooney, Rachel Karchin, Anne O’Donnell-Luria, Steven M. Harrison, Sean V. Tavtigian, Marc S. Greenblatt, Leslie G. Biesecker, Predrag Radivojac, Steven E. Brenner, Leslie G. Biesecker, Steven M. Harrison, Ahmad A. Tayoun, Jonathan S. Berg, Steven E. Brenner, Garry R. Cutting, Sian Ellard

9. Systematic comparison of family history and polygenic risk across 24 common diseases

   Publication date: 1 December 2022

   Source: The American Journal of Human Genetics, Volume 109, Issue 12

   Author(s): Nina Mars, Joni V. Lindbohm, Pietro della Briotta Parolo, Elisabeth Widén, Jaakko Kaprio, Aarno Palotie, FinnGen, Samuli Ripatti

10. Understanding changes in genetic literacy over time and in genetic research participants

    Publication date: 1 December 2022

    Source: The American Journal of Human Genetics, Volume 109, Issue 12

    Author(s): India D. Little, Laura M. Koehly, Chris Gunter

11. Consequences of chromosome gain: A new view on trisomy syndromes

    Publication date: 1 December 2022

    Source: The American Journal of Human Genetics, Volume 109, Issue 12

    Author(s): Maria Krivega, Clara M. Stiefel, Zuzana Storchova

12. A scoping review of guidelines for the use of race, ethnicity, and ancestry reveals widespread consensus but also points of ongoing disagreement

    Publication date: 1 December 2022

    Source: The American Journal of Human Genetics, Volume 109, Issue 12

    Author(s): Madelyn Mauro, Danielle S. Allen, Bege Dauda, Santiago J. Molina, Benjamin M. Neale, Anna C.F. Lewis

13. Addressing the challenges of polygenic scores in human genetic research

    Publication date: 1 December 2022

    Source: The American Journal of Human Genetics, Volume 109, Issue 12

    Author(s): John Novembre, Catherine Stein, Samira Asgari, Claudia Gonzaga-Jauregui, Andrew Landstrom, Amy Lemke, Jun Li, Chloe Mighton, Matthew Taylor, Sarah Tishkoff

14. This month in The Journal

    Publication date: 1 December 2022

    Source: The American Journal of Human Genetics, Volume 109, Issue 12

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

15. SDPRX: A statistical method for cross-population prediction of complex traits

    Publication date: Available online 1 December 2022

    Source: The American Journal of Human Genetics

    Author(s): Geyu Zhou, Tianqi Chen, Hongyu Zhao

16. Statistical phasing of 150,119 sequenced genomes in the UK Biobank

    Publication date: Available online 29 November 2022

    Source: The American Journal of Human Genetics

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

17. The recurrent de novo c.2011C>T missense variant in MTSS2 causes syndromic intellectual disability

    Publication date: 3 November 2022

    Source: The American Journal of Human Genetics, Volume 109, Issue 11

    Author(s): Yan Huang, Gabrielle Lemire, Lauren C. Briere, Fang Liu, Marja W. Wessels, Xueqi Wang, Matthew Osmond, Oguz Kanca, Shenzhao Lu, Frances A. High, Melissa A. Walker, Lance H. Rodan, Undiagnosed Diseases Network, Care4Rare Canada Consortium, Michael F. Wangler, Shinya Yamamoto, Kristin D. Kernohan, David A. Sweetser, Kym M. Boycott, Hugo J. Bellen

18. Response to Eura et al.

    Publication date: 3 November 2022

    Source: The American Journal of Human Genetics, Volume 109, Issue 11

    Author(s): Jiaxi Yu, Jingli Shan, Meng Yu, Li Di, Zhiying Xie, Wei Zhang, He Lv, LingChao Meng, Yiming Zheng, Yawen Zhao, Qiang Gang, Xueyu Guo, Yang Wang, Jianying Xi, Wenhua Zhu, Yuwei Da, Daojun Hong, Yun Yuan, Chuanzhu Yan, Zhaoxia Wang

19. RILPL1-related OPDM is absent in a Japanese cohort

    Publication date: 3 November 2022

    Source: The American Journal of Human Genetics, Volume 109, Issue 11

    Author(s): Nobuyuki Eura, Aritoshi Iida, Masashi Ogasawara, Shinichiro Hayashi, Satoru Noguchi, Ichizo Nishino

20. A founder event causing a dominant childhood epilepsy survives 800 years through weak selective pressure

    Publication date: 3 November 2022

    Source: The American Journal of Human Genetics, Volume 109, Issue 11

    Author(s): Bronwyn E. Grinton, Erandee Robertson, Liam G. Fearnley, Ingrid E. Scheffer, Anthony G. Marson, Terence J. O’Brien, W. Owen Pickrell, Mark I. Rees, Sanjay M. Sisodiya, David J. Balding, Mark F. Bennett, Melanie Bahlo, Samuel F. Berkovic, Karen L. Oliver

21. Bi-allelic CAMSAP1 variants cause a clinically recognizable neuronal migration disorder

    Publication date: 3 November 2022

    Source: The American Journal of Human Genetics, Volume 109, Issue 11

    Author(s): Reham Khalaf-Nazzal, James Fasham, Katherine A. Inskeep, Lauren E. Blizzard, Joseph S. Leslie, Matthew N. Wakeling, Nishanka Ubeyratna, Tadahiro Mitani, Jennifer L. Griffith, Wisam Baker, Fida’ Al-Hijawi, Karen C. Keough, Alper Gezdirici, Loren Pena, Christine G. Spaeth, Peter D. Turnpenny, Joseph R. Walsh, Randall Ray, Amber Neilson, Evguenia Kouranova

22. Transcriptional and functional consequences of alterations to MEF2C and its topological organization in neuronal models

    Publication date: 3 November 2022

    Source: The American Journal of Human Genetics, Volume 109, Issue 11

    Author(s): Kiana Mohajeri, Rachita Yadav, Eva D'haene, Philip M. Boone, Serkan Erdin, Dadi Gao, Mariana Moyses-Oliveira, Riya Bhavsar, Benjamin B. Currall, Kathryn O'Keefe, Nicholas D. Burt, Chelsea Lowther, Diane Lucente, Monica Salani, Mathew Larson, Claire Redin, Olga Dudchenko, Erez Lieberman Aiden, Björn Menten, Derek J.C. Tai

23. Multi-omics approach dissects cis-regulatory mechanisms underlying North Carolina macular dystrophy, a retinal enhanceropathy

    Publication date: 3 November 2022

    Source: The American Journal of Human Genetics, Volume 109, Issue 11

    Author(s): Stijn Van de Sompele, Kent W. Small, Munevver Burcu Cicekdal, Víctor López Soriano, Eva D’haene, Fadi S. Shaya, Steven Agemy, Thijs Van der Snickt, Alfredo Dueñas Rey, Toon Rosseel, Mattias Van Heetvelde, Sarah Vergult, Irina Balikova, Arthur A. Bergen, Camiel J.F. Boon, Julie De Zaeytijd, Chris F. Inglehearn, Bohdan Kousal, Bart P. Leroy, Carlo Rivolta

24. Reduced penetrance of MODY-associated HNF1A/HNF4A variants but not GCK variants in clinically unselected cohorts

    Publication date: 3 November 2022

    Source: The American Journal of Human Genetics, Volume 109, Issue 11

    Author(s): Uyenlinh L Mirshahi, Kevin Colclough, Caroline F Wright, Andrew R Wood, Robin N Beaumont, Jessica Tyrrell, Thomas W Laver, Richard Stahl, Alicia Golden, Jessica M Goehringer, Geisinger-Regeneron DiscovEHR Collaboration, Timothy F Frayling, Andrew T Hattersley, David J Carey, Michael N Weedon, Kashyap A Patel

25. Liability-scale heritability estimation for biobank studies of low-prevalence disease

    Publication date: 3 November 2022

    Source: The American Journal of Human Genetics, Volume 109, Issue 11

    Author(s): Sven E. Ojavee, Zoltan Kutalik, Matthew R. Robinson

26. The construction of cross-population polygenic risk scores using transfer learning

    Publication date: 3 November 2022

    Source: The American Journal of Human Genetics, Volume 109, Issue 11

    Author(s): Zhangchen Zhao, Lars G. Fritsche, Jennifer A. Smith, Bhramar Mukherjee, Seunggeun Lee

27. MagicalRsq: Machine-learning-based genotype imputation quality calibration

    Publication date: 3 November 2022

    Source: The American Journal of Human Genetics, Volume 109, Issue 11

    Author(s): Quan Sun, Yingxi Yang, Jonathan D. Rosen, Min-Zhi Jiang, Jiawen Chen, Weifang Liu, Jia Wen, Laura M. Raffield, Rhonda G. Pace, Yi-Hui Zhou, Fred A. Wright, Scott M. Blackman, Michael J. Bamshad, Ronald L. Gibson, Garry R. Cutting, Michael R. Knowles, Daniel R. Schrider, Christian Fuchsberger, Yun Li

28. FastRNA: An efficient solution for PCA of single-cell RNA-sequencing data based on a batch-accounting count model

    Publication date: 3 November 2022

    Source: The American Journal of Human Genetics, Volume 109, Issue 11

    Author(s): Hanbin Lee, Buhm Han

29. Shariant platform: Enabling evidence sharing across Australian clinical genetic-testing laboratories to support variant interpretation

    Publication date: 3 November 2022

    Source: The American Journal of Human Genetics, Volume 109, Issue 11

    Author(s): Emma Tudini, James Andrews, David M. Lawrence, Sarah L. King-Smith, Naomi Baker, Leanne Baxter, John Beilby, Bruce Bennetts, Victoria Beshay, Michael Black, Tiffany F. Boughtwood, Kristian Brion, Pak Leng Cheong, Michael Christie, John Christodoulou, Belinda Chong, Kathy Cox, Mark R. Davis, Lucas Dejong, Marcel E. Dinger

30. Care4Rare Canada: Outcomes from a decade of network science for rare disease gene discovery

    Publication date: 3 November 2022

    Source: The American Journal of Human Genetics, Volume 109, Issue 11

    Author(s): Kym M. Boycott, Taila Hartley, Kristin D. Kernohan, David A. Dyment, Heather Howley, A. Micheil Innes, Francois P. Bernier, Michael Brudno, Care4Rare Canada Consortium