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    Academic Journals

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• The genomic signatures of natural selection in admixed human populations.

  Authors:Sebastian Cuadros-Espinoza, Guillaume Laval, Lluis Quintana-Murci, and Etienne PatinFrom:American Journal of Human Genetics (Vol. 109, Issue 4) Peer-Reviewed

  Apr. 7, 2022328 words Report, Brief articl...

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• RAREsim: A simulation method for very rare genetic variants.

  Authors:Megan Null, Josée Dupuis, Pezhman Sheinidashtegol, Ryan M. Layer, Christopher R. Gignoux, and Audrey E. HendricksFrom:American Journal of Human Genetics (Vol. 109, Issue 4) Peer-Reviewed

  Apr. 7, 2022297 words Report, Brief articl...

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• Predicted gene expression in ancestrally diverse populations leads to discovery of susceptibility loci for lifestyle and cardiometabolic traits.

  Authors:Heather M. Highland, Genevieve L. Wojcik, Mariaelisa Graff, Katherine K. Nishimura, Chani J. Hodonsky, Antoine R. Baldassari, et al.From:American Journal of Human Genetics (Vol. 109, Issue 4) Peer-Reviewed

  Apr. 7, 2022823 words Report

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• Duplications disrupt chromatin architecture and rewire GPR101-enhancer communication in X-linked acrogigantism.

  Authors:Martin Franke, Adrian F. Daly, Leonor Palmeira, Amit Tirosh, Antonio Stigliano, Eszter Trifan, et al.From:American Journal of Human Genetics (Vol. 109, Issue 4) Peer-Reviewed

  Apr. 7, 2022567 words Report

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• THUMPD1 bi-allelic variants cause loss of tRNA acetylation and a syndromic neurodevelopmental disorder.

  Authors:Martin Broly, Bogdan V. Polevoda, Kamel M. Awayda, Ning Tong, Jenna Lentini, Thomas Besnard, et al.From:American Journal of Human Genetics (Vol. 109, Issue 4) Peer-Reviewed

  Apr. 7, 2022826 words Report

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• The individual and global impact of copy-number variants on complex human traits.

  Authors:Chiara Auwerx, Maarja Lepamets, Marie C. Sadler, Marion Patxot, Milos Stojanov, David Baud, et al.From:American Journal of Human Genetics (Vol. 109, Issue 4) Peer-Reviewed

  Apr. 7, 2022398 words Report

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• Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome.

  Authors:Sarah E.M. Stephenson, Gregory Costain, Laura E.R. Blok, Michael A. Silk, Thanh Binh Nguyen, Xiaomin Dong, et al.From:American Journal of Human Genetics (Vol. 109, Issue 4) Peer-Reviewed

  Apr. 7, 20221,890 words Article

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• The functional impact of BRCA1 BRCT domain variants using multiplexed DNA double-strand break repair assays.

  Authors:Aleksandra I. Adamovich, Mariame Diabate, Tapahsama Banerjee, Gregory Nagy, Nahum Smith, Kathryn Duncan, et al.From:American Journal of Human Genetics (Vol. 109, Issue 4) Peer-Reviewed

  Apr. 7, 2022338 words Report, Brief articl...

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• Loss-of-function variants in TIAM1 are associated with developmental delay, intellectual disability, and seizures.

  Authors:Shenzhao Lu, Rebecca Hernan, Paul C. Marcogliese, Yan Huang, Tracy S. Gertler, Meltem Akcaboy, et al.From:American Journal of Human Genetics (Vol. 109, Issue 4) Peer-Reviewed

  Apr. 7, 2022510 words Report

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• Family history aggregation unit-based tests to detect rare genetic variant associations with application to the Framingham Heart Study.

  Authors:Yanbing Wang, Han Chen, Gina M. Peloso, James B. Meigs, Alexa S. Beiser, Sudha Seshadri, et al.From:American Journal of Human Genetics (Vol. 109, Issue 4) Peer-Reviewed

  Apr. 7, 2022345 words Report, Brief articl...

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• Partitioning gene-level contributions to complex-trait heritability by allele frequency identifies disease-relevant genes.

  Authors:Kathryn S. Burch, Kangcheng Hou, Yi Ding, Yifei Wang, Steven Gazal, Huwenbo Shi, et al.From:American Journal of Human Genetics (Vol. 109, Issue 4) Peer-Reviewed

  Apr. 7, 2022462 words Report

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• Familial long-read sequencing increases yield of de novo mutations.

  Authors:Michelle D. Noyes, William T. Harvey, David Porubsky, Arvis Sulovari, Ruiyang Li, Nicholas R. Rose, et al.From:American Journal of Human Genetics (Vol. 109, Issue 4) Peer-Reviewed

  Apr. 7, 2022533 words Report

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• Recurrent de novo missense variants across multiple histone H4 genes underlie a neurodevelopmental syndrome.

  Authors:Federico Tessadori, Karen Duran, Karen Knapp, Matthias Fellner, Sarah Smithson, Ana Beleza Meireles, et al.From:American Journal of Human Genetics (Vol. 109, Issue 4) Peer-Reviewed

  Apr. 7, 20221,210 words Article

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• Inferring population structure in biobank-scale genomic data.

  Authors:Alec M. Chiu, Erin K. Molloy, Zilong Tan, Ameet Talwalkar, and Sriram SankararamanFrom:American Journal of Human Genetics (Vol. 109, Issue 4) Peer-Reviewed

  Apr. 7, 2022267 words Report, Brief articl...

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