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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.
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
Doi:
10.1242/dmm.049829
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
Doi:
10.1242/dmm.049802
EDITORIAL
Kirsty M. Hooper; Julija Hmeljak
31 October 2022
Doi:
10.1242/dmm.049944
RESEARCH ARTICLE
Deena Damschroder; Rubén Zapata-Pérez; Kristin Richardson; Frédéric M. Vaz; Riekelt H. Houtkooper; Robert Wessells
05 October 2022
Doi:
10.1242/dmm.049279
EDITORIAL
Owen Sansom
04 October 2022
Doi:
10.1242/dmm.049865
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
Doi:
10.1242/dmm.049600
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
Doi:
10.1242/dmm.049473
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
Doi:
10.1242/dmm.049441
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
Doi:
10.1242/dmm.049343
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
Doi:
10.1242/dmm.049463
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
Doi:
10.1242/dmm.049484
RESOURCE ARTICLE
Xiaonan Zhao; Cassandra McHugh; Sydney R. Coffey; Diego Antonio Jimenez; Elizabeth Adams; Jeffrey B. Carroll; Karen Usdin
13 May 2022
Doi:
10.1242/dmm.049453
RESEARCH ARTICLE
Michael A. Robichaux; Vy Nguyen; Fung Chan; Lavanya Kailasam; Feng He; John H. Wilson; Theodore G. Wensel
06 May 2022
Doi:
10.1242/dmm.049336
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
Doi:
10.1242/dmm.049320
RESEARCH ARTICLE
Sachin Wani; Anna Daroszewska; Donald M. Salter; Rob J. van ‘t Hof; Stuart H. Ralston; Omar M. E. Albagha
26 April 2022
Doi:
10.1242/dmm.049318
RESEARCH ARTICLE
Yafang Wang; Yang Liu; Shu Liu; Xiaomeng Li; Xinxin Liu; Ming Jiao; Yuqin Yang; Xueting Luo; Fenghua Wang; Xiaoling Wan; Xiaodong Sun
01 March 2022
Doi:
10.1242/dmm.049222
RESEARCH ARTICLE
Ryuichi Yamada; Akira Oguri; Katsunori Fujiki; Katsuhiko Shirahige; Yoshikazu Hirate; Masami Kanai-Azuma; Hirotaka Takezoe; Yoshihiro Akimoto; Naoki Takahashi; Yoshiakira Kanai
23 December 2021
Doi:
10.1242/dmm.049251
RESOURCE ARTICLE
Michael Stirm; Lina Marie Fonteyne; Bachuki Shashikadze; Magdalena Lindner; Maila Chirivi; Andreas Lange; Clara Kaufhold; Christian Mayer; Ivica Medugorac; Barbara Kessler; Mayuko Kurome; Valeri Zakhartchenko; Arne Hinrichs; Elisabeth Kemter; Sabine Krause; Rüdiger Wanke; Georg J. Arnold; Gerhard Wess; Hiroshi Nagashima; Martin Hrabĕ de Angelis; Florian Flenkenthaler; Levin Arne Kobelke; Claudia Bearzi; Roberto Rizzi; Andrea Bähr; Sven Reese; Kaspar Matiasek; Maggie C. Walter; Christian Kupatt; Sibylle Ziegler; Peter Bartenstein; Thomas Fröhlich; Nikolai Klymiuk; Andreas Blutke; Eckhard Wolf
16 December 2021
Doi:
10.1242/dmm.049285
REVIEW
Robert J. Huber
06 December 2021
Doi:
10.1242/dmm.049152
