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Human Genetic Disease
Advances in human genetics research are improving our understanding of an increasingly broad spectrum of diseases. Model systems, from in vitro cell-based cultures to large animal models, are essential for both the study of the underlying mechanisms and the development of effective therapies. This collection highlights the many ways in which model systems work in concert with human genetics to help diagnose and treat disease.

EDITORIAL
Ivan Molotkov; Elaine R. Mardis; Mykyta Artomov
16 December 2024
REVIEW
Helen Rankin Willsey; Eleanor G. Seaby; Annie Godwin; Sarah Ennis; Matthew Guille; Robert M. Grainger
04 June 2024
EDITORIAL
Julija Hmeljak; Kirsty M. Hooper
28 February 2024
RESEARCH ARTICLE
Brandon D. Anderson; Timothy Lee; Brent Bell; Ying Song; Joshua L. Dunaief
13 July 2023
EDITORIAL
Guy A. Caldwell
13 June 2023
RESEARCH ARTICLE
Derek L. Reznik; Mingxiao V. Yang; Pedro Albelda de la Haza; Antrix Jain; Melanie Spanjaard; Susanne Theiss; Christian P. Schaaf; Anna Malovannaya; Theresa V. Strong; Surabi Veeraragavan; Rodney C. Samaco
03 February 2023
RESEARCH ARTICLE
Sharmistha Mitra; Baozhi Chen; Peixiang Wang; Erin E. Chown; Mathew Dear; Dikran R. Guisso; Ummay Mariam; Jun Wu; Emrah Gumusgoz; Berge A. Minassian
06 January 2023
EDITORIAL
Kirsty M. Hooper; Julija Hmeljak
31 October 2022
RESEARCH ARTICLE
Deena Damschroder; Rubén Zapata-Pérez; Kristin Richardson; Frédéric M. Vaz; Riekelt H. Houtkooper; Robert Wessells
05 October 2022
EDITORIAL
Owen Sansom
04 October 2022
RESEARCH ARTICLE
Sara K. Mayer; Jacintha Thomas; Megan Helms; Aishwarya Kothapalli; Ioana Cherascu; Adisa Salesevic; Elliot Stalter; Kai Wang; Poppy Datta; Charles Searby; Seongjin Seo; Ying Hsu; Sajag Bhattarai; Val C. Sheffield; Arlene V. Drack
20 September 2022
SPECIAL ARTICLE
Keith C. Cheng; Rebecca D. Burdine; Mary E. Dickinson; Stephen C. Ekker; Alex Y. Lin; K. C. Kent Lloyd; Cathleen M. Lutz; Calum A. MacRae; John H. Morrison; David H. O'Connor; John H. Postlethwait; Crystal D. Rogers; Susan Sanchez; Julie H. Simpson; William S. Talbot; Douglas C. Wallace; Jill M. Weimer; Hugo J. Bellen
20 September 2022
RESEARCH ARTICLE
Contribution of model organism phenotypes to the computational identification of human disease genes
Sarah M. Alghamdi; Paul N. Schofield; Robert Hoehndorf
03 August 2022
RESEARCH ARTICLE
Andy Shao; Antonio Jacobo Lopez; JiaJia Chen; Addy Tham; Seanne Javier; Alejandra Quiroz; Sonia Frick; Edward M. Levine; K. C. Kent Lloyd; Brian C. Leonard; Christopher J. Murphy; Thomas M. Glaser; Ala Moshiri
25 July 2022
RESEARCH ARTICLE
Kaitly J. Woodard; Phillip A. Doerfler; Kalin D. Mayberry; Akshay Sharma; Rachel Levine; Jonathan Yen; Virginia Valentine; Lance E. Palmer; Marc Valentine; Mitchell J. Weiss
06 July 2022
RESEARCH ARTICLE
Lucienne Chatenoud; Cindy Marquet; Fabrice Valette; Lindsay Scott; Jiexia Quan; Chun Hui Bu; Sara Hildebrand; Eva Marie Y. Moresco; Jean-François Bach; Bruce Beutler
01 June 2022
RESOURCE ARTICLE
Xiaonan Zhao; Cassandra McHugh; Sydney R. Coffey; Diego Antonio Jimenez; Elizabeth Adams; Jeffrey B. Carroll; Karen Usdin
13 May 2022
RESEARCH ARTICLE
Michael A. Robichaux; Vy Nguyen; Fung Chan; Lavanya Kailasam; Feng He; John H. Wilson; Theodore G. Wensel
06 May 2022
RESEARCH ARTICLE
Stanley M. Kanai; Caleb Heffner; Timothy C. Cox; Michael L. Cunningham; Francisco A. Perez; Aaron M. Bauer; Philip Reigan; Cristan Carter; Stephen A. Murray; David E. Clouthier
29 April 2022