The American Journal of Human Genetics

1. Actionability of unanticipated monogenic disease risks in newborn genomic screening: Findings from the BabySeq Project

   Publication date: Available online 5 June 2023

   Source: The American Journal of Human Genetics

   Author(s): Robert C. Green, Nidhi Shah, Casie A. Genetti, Timothy Yu, Bethany Zettler, Melissa K. Uveges, Ozge Ceyhan-Birsoy, Matthew S. Lebo, Stacey Pereira, Pankaj B. Agrawal, Richard B. Parad, Amy L. McGuire, Kurt D. Christensen, Talia S. Schwartz, Heidi L. Rehm, Ingrid A. Holm, Alan H. Beggs, The BabySeq Project Team

2. An intronic GAA repeat expansion in FGF14 causes the autosomal-dominant adult-onset ataxia SCA27B/ATX-FGF14

   Publication date: 1 June 2023

   Source: The American Journal of Human Genetics, Volume 110, Issue 6

   Author(s): Haloom Rafehi, Justin Read, David J. Szmulewicz, Kayli C. Davies, Penny Snell, Liam G. Fearnley, Liam Scott, Mirja Thomsen, Greta Gillies, Kate Pope, Mark F. Bennett, Jacob E. Munro, Kathie J. Ngo, Luke Chen, Mathew J. Wallis, Ernest G. Butler, Kishore R. Kumar, Kathy HC. Wu, Susan E. Tomlinson, Stephen Tisch

3. Response to Grosse et al.

   Publication date: 1 June 2023

   Source: The American Journal of Human Genetics, Volume 110, Issue 6

   Author(s): Stephen F. Kingsmore, Laurie D. Smith, Chris M. Kunard, Matthew Bainbridge, Sergey Batalov, Wendy Benson, Eric Blincow, Sara Caylor, Christina Chambers, Guillermo Del Angel, David P. Dimmock, Yan Ding, Katarzyna Ellsworth, Annette Feigenbaum, Erwin Frise, Robert C. Green, Lucia Guidugli, Kevin P. Hall, Christian Hansen, Charlotte A. Hobbs

4. Progress in expanding newborn screening in the United States

   Publication date: 1 June 2023

   Source: The American Journal of Human Genetics, Volume 110, Issue 6

   Author(s): Scott D. Grosse, Carla Cuthbert, Marcus Gaffney, Amy Gaviglio, Cynthia F. Hinton, Yvonne Kellar-Guenther, Alex R. Kemper, Sarah McKasson, Jelili Ojodu, Catharine Riley, Sikha Singh, Marci K. Sontag, Stuart K. Shapira

5. Declining autozygosity over time: An exploration in over 1 million individuals from three diverse cohorts

   Publication date: 1 June 2023

   Source: The American Journal of Human Genetics, Volume 110, Issue 6

   Author(s): Sarah M.C. Colbert, Frank R. Wendt, Gita A. Pathak, Drew A. Helmer, Elizabeth R. Hauser, Matthew C. Keller, Renato Polimanti, Emma C. Johnson

6. Monoallelic intragenic POU3F2 variants lead to neurodevelopmental delay and hyperphagic obesity, confirming the gene’s candidacy in 6q16.1 deletions

   Publication date: 1 June 2023

   Source: The American Journal of Human Genetics, Volume 110, Issue 6

   Author(s): Ria Schönauer, Wenjun Jin, Christin Findeisen, Irene Valenzuela, Laura Alice Devlin, Jill Murrell, Emma C. Bedoukian, Linda Pöschla, Elena Hantmann, Korbinian M. Riedhammer, Julia Hoefele, Konrad Platzer, Ronald Biemann, Philipp M. Campeau, Johannes Münch, Henrike Heyne, Anne Hoffmann, Adhideb Ghosh, Wenfei Sun, Hua Dong

7. Bi-allelic variants in HMGCR cause an autosomal-recessive progressive limb-girdle muscular dystrophy

   Publication date: 1 June 2023

   Source: The American Journal of Human Genetics, Volume 110, Issue 6

   Author(s): Joel A. Morales-Rosado, Tanya L. Schwab, Sarah K. Macklin-Mantia, A. Reghan Foley, Filippo Pinto e Vairo, Davut Pehlivan, Sandra Donkervoort, Jill A. Rosenfeld, Grace E. Boyum, Ying Hu, Anh T.Q. Cong, Timothy E. Lotze, Carrie A. Mohila, Dimah Saade, Diana Bharucha-Goebel, Katherine R. Chao, Christopher Grunseich, Christine C. Bruels, Hannah R. Littel, Elicia A. Estrella

8. Comprehensive genetic and phenotype analysis of 95 individuals with mosaic tuberous sclerosis complex

   Publication date: 1 June 2023

   Source: The American Journal of Human Genetics, Volume 110, Issue 6

   Author(s): Katarzyna Klonowska, Krinio Giannikou, Joannes M. Grevelink, Barbara Boeszoermenyi, Aaron R. Thorner, Zachary T. Herbert, Antara Afrin, Alison M. Treichel, Lana Hamieh, Katarzyna Kotulska, Sergiusz Jozwiak, Joel Moss, Thomas N. Darling, David J. Kwiatkowski

9. The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder

   Publication date: 1 June 2023

   Source: The American Journal of Human Genetics, Volume 110, Issue 6

   Author(s): Dmitrijs Rots, Taryn E. Jakub, Crystal Keung, Adam Jackson, Siddharth Banka, Rolph Pfundt, Bert B.A. de Vries, Richard H. van Jaarsveld, Saskia M.J. Hopman, Ellen van Binsbergen, Irene Valenzuela, Maja Hempel, Tatjana Bierhals, Fanny Kortüm, Francois Lecoquierre, Alice Goldenberg, Jens Michael Hertz, Charlotte Brasch Andersen, Maria Kibæk, Eloise J. Prijoles

10. A joint transcriptome-wide association study across multiple tissues identifies candidate breast cancer susceptibility genes

    Publication date: 1 June 2023

    Source: The American Journal of Human Genetics, Volume 110, Issue 6

    Author(s): Guimin Gao, Peter N. Fiorica, Julian McClellan, Alvaro N. Barbeira, James L. Li, Olufunmilayo I. Olopade, Hae Kyung Im, Dezheng Huo

11. Estimating clinical risk in gene regions from population sequencing cohort data

    Publication date: 1 June 2023

    Source: The American Journal of Human Genetics, Volume 110, Issue 6

    Author(s): James D. Fife, Christopher A. Cassa

12. Impact of cross-ancestry genetic architecture on GWASs in admixed populations

    Publication date: 1 June 2023

    Source: The American Journal of Human Genetics, Volume 110, Issue 6

    Author(s): Rachel Mester, Kangcheng Hou, Yi Ding, Gillian Meeks, Kathryn S. Burch, Arjun Bhattacharya, Brenna M. Henn, Bogdan Pasaniuc

13. Genome-wide aggregated trans-effects on risk of type 1 diabetes: A test of the “omnigenic” sparse effector hypothesis of complex trait genetics

    Publication date: 1 June 2023

    Source: The American Journal of Human Genetics, Volume 110, Issue 6

    Author(s): Andrii Iakovliev, Stuart J. McGurnaghan, Caroline Hayward, Marco Colombo, Debby Lipschutz, Athina Spiliopoulou, Helen M. Colhoun, Paul M. McKeigue

14. eXclusionarY: 10 years later, where are the sex chromosomes in GWASs?

    Publication date: 1 June 2023

    Source: The American Journal of Human Genetics, Volume 110, Issue 6

    Author(s): Lei Sun, Zhong Wang, Tianyuan Lu, Teri A. Manolio, Andrew D. Paterson

15. This month in The Journal

    Publication date: 1 June 2023

    Source: The American Journal of Human Genetics, Volume 110, Issue 6

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

16. Trio RNA sequencing in a cohort of medically complex children

    Publication date: 4 May 2023

    Source: The American Journal of Human Genetics, Volume 110, Issue 5

    Author(s): Ashish R. Deshwar, Kyoko E. Yuki, Huayun Hou, Yijing Liang, Tayyaba Khan, Alper Celik, Arun Ramani, Roberto Mendoza-Londono, Christian R. Marshall, Michael Brudno, Adam Shlien, M. Stephen Meyn, Robin Z. Hayeems, Brandon J. McKinlay, Panagiota Klentrou, Michael D. Wilson, Lianna Kyriakopoulou, Gregory Costain, James J. Dowling

17. Genetic heritage of the Baphuthi highlights an over-ethnicized notion of “Bushman” in the Maloti-Drakensberg, southern Africa

    Publication date: 4 May 2023

    Source: The American Journal of Human Genetics, Volume 110, Issue 5

    Author(s): Ryan Joseph Daniels, Maria Eugenia D'Amato, Mpasi Lesaoana, Mohaimin Kasu, Karen Ehlers, Paballo Abel Chauke, Puseletso Lecheko, Sam Challis, Kirk Rockett, Francesco Montinaro, Miguel González-Santos, Cristian Capelli

18. The functional impact of 1,570 individual amino acid substitutions in human OTC

    Publication date: 4 May 2023

    Source: The American Journal of Human Genetics, Volume 110, Issue 5

    Author(s): Russell S. Lo, Gareth A. Cromie, Michelle Tang, Kevin Teng, Katherine Owens, Amy Sirr, J. Nathan Kutz, Hiroki Morizono, Ljubica Caldovic, Nicholas Ah Mew, Andrea Gropman, Aimée M. Dudley

19. De novo variants implicate chromatin modification, transcriptional regulation, and retinoic acid signaling in syndromic craniosynostosis

    Publication date: 4 May 2023

    Source: The American Journal of Human Genetics, Volume 110, Issue 5

    Author(s): Andrew T. Timberlake, Stephen McGee, Garrett Allington, Emre Kiziltug, Erin M. Wolfe, Amy L. Stiegler, Titus J. Boggon, May Sanyoura, Michelle Morrow, Tara L. Wenger, Erica M. Fernandes, Oana Caluseriu, John A. Persing, Sheng Chih Jin, Richard P. Lifton, Kristopher T. Kahle, Paul Kruszka

20. Autism-specific PTEN p.Ile135Leu variant and an autism genetic background combine to dysregulate cortical neurogenesis

    Publication date: 4 May 2023

    Source: The American Journal of Human Genetics, Volume 110, Issue 5

    Author(s): Shuai Fu, Luke A.D. Bury, Jaejin Eum, Anthony Wynshaw-Boris

21. POLR1A variants underlie phenotypic heterogeneity in craniofacial, neural, and cardiac anomalies

    Publication date: 4 May 2023

    Source: The American Journal of Human Genetics, Volume 110, Issue 5

    Author(s): Kelly Smallwood, Kristin E.N. Watt, Satoru Ide, Kristina Baltrunaite, Chad Brunswick, Katherine Inskeep, Corrine Capannari, Margaret P. Adam, Amber Begtrup, Debora R. Bertola, Laurie Demmer, Erin Demo, Orrin Devinsky, Emily R. Gallagher, Maria J. Guillen Sacoto, Robert Jech, Boris Keren, Jennifer Kussmann, Roger Ladda, Lisa A. Lansdon

22. SRSF1 haploinsufficiency is responsible for a syndromic developmental disorder associated with intellectual disability

    Publication date: 4 May 2023

    Source: The American Journal of Human Genetics, Volume 110, Issue 5

    Author(s): Elke Bogaert, Aurore Garde, Thierry Gautier, Kathleen Rooney, Yannis Duffourd, Pontus LeBlanc, Emma van Reempts, Frederic Tran Mau-Them, Ingrid M. Wentzensen, Kit Sing Au, Kate Richardson, Hope Northrup, Vincent Gatinois, David Geneviève, Raymond J. Louie, Michael J. Lyons, Lone Walentin Laulund, Charlotte Brasch-Andersen, Trine Maxel Juul, Fatima El It

23. Bi-allelic variants in INTS11 are associated with a complex neurological disorder

    Publication date: 4 May 2023

    Source: The American Journal of Human Genetics, Volume 110, Issue 5

    Author(s): Burak Tepe, Erica L. Macke, Marcello Niceta, Monika Weisz Hubshman, Oguz Kanca, Laura Schultz-Rogers, Yuri A. Zarate, G. Bradley Schaefer, Jorge Luis Granadillo De Luque, Daniel J. Wegner, Benjamin Cogne, Brigitte Gilbert-Dussardier, Xavier Le Guillou, Eric J. Wagner, Lynn S. Pais, Jennifer E. Neil, Ganeshwaran H. Mochida, Christopher A. Walsh, Nurit Magal, Valerie Drasinover

24. Scalable mixed model methods for set-based association studies on large-scale categorical data analysis and its application to exome-sequencing data in UK Biobank

    Publication date: 4 May 2023

    Source: The American Journal of Human Genetics, Volume 110, Issue 5

    Author(s): Wenjian Bi, Wei Zhou, Peipei Zhang, Yaoyao Sun, Weihua Yue, Seunggeun Lee

25. Fast and accurate Bayesian polygenic risk modeling with variational inference

    Publication date: 4 May 2023

    Source: The American Journal of Human Genetics, Volume 110, Issue 5

    Author(s): Shadi Zabad, Simon Gravel, Yue Li

26. Dissecting the polygenic basis of atherosclerosis via disease-associated cell state signatures

    Publication date: 4 May 2023

    Source: The American Journal of Human Genetics, Volume 110, Issue 5

    Author(s): Tiit Örd, Tapio Lönnberg, Valtteri Nurminen, Aarthi Ravindran, Henri Niskanen, Miika Kiema, Kadri Õunap, Maleeha Maria, Pierre R. Moreau, Pashupati P. Mishra, Senthil Palani, Jenni Virta, Heidi Liljenbäck, Einari Aavik, Anne Roivainen, Seppo Ylä-Herttuala, Johanna P. Laakkonen, Terho Lehtimäki, Minna U. Kaikkonen

27. Kurt Hirschhorn (1926–2022)

    Publication date: 4 May 2023

    Source: The American Journal of Human Genetics, Volume 110, Issue 5

    Author(s): Bruce D. Gelb, Robert J. Desnick

28. This month in The Journal

    Publication date: 4 May 2023

    Source: The American Journal of Human Genetics, Volume 110, Issue 5

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