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Genetic Variance in Human Disease
With the advance of whole exome and genome sequencing, researchers are flooded with data that can help decipher the genetics of human disease. New technologies, computational methods and model systems are revealing how human genetic variance contributes to disease mechanisms. This ongoing collection highlights this evolving area of research and shows how, by integrating functional studies in model systems with genomic medicine, it is possible to diagnose, prognose and treat patients in a more informed and stratified manner.
RESEARCH ARTICLE
María Lachgar-Ruiz; Matías Morín; Elisa Martelletti; Neil J. Ingham; Lorenzo Preite; Morag A. Lewis; Luciana Santos Serrão de Castro; Karen P. Steel; Miguel Ángel Moreno-Pelayo
17 August 2023
10.1242/dmm.049757
RESEARCH ARTICLE
Michaela Omelková; Christina Dühring Fenger; Marta Murray; Trine Bjørg Hammer; Veronica M. Pravata; Sergio Galan Bartual; Ignacy Czajewski; Allan Bayat; Andrew T. Ferenbach; Marios P. Stavridis; Daan M. F. van Aalten
19 June 2023
10.1242/dmm.049132
RESEARCH ARTICLE
Brittany T. Truong; Lomeli C. Shull; Ezra Lencer; Eric G. Bend; Michael Field; Elizabeth E. Blue; Michael J. Bamshad; Cindy Skinner; David Everman; Charles E. Schwartz; Heather Flanagan-Steet; Kristin B. Artinger
26 April 2023
10.1242/dmm.049977
RESEARCH ARTICLE
Emilia Baranowska; Katarzyna Niedzwiecka; Chiranjit Panja; Camille Charles; Alain Dautant; Jarosław Poznanski; Jean-Paul di Rago; Déborah Tribouillard-Tanvier; Roza Kucharczyk
21 April 2023
10.1242/dmm.049783
REVIEW
Christina T. Stankey; James C. Lee
07 March 2023
10.1242/dmm.049790
PERSPECTIVE
Michael Gundry; Vijay G. Sankaran
24 February 2023
10.1242/dmm.049857
PERSPECTIVE
Ambroise Wonkam
23 February 2023
10.1242/dmm.049765
REVIEW
Rob Willemsen; R. Frank Kooy
24 January 2023
10.1242/dmm.049485
REVIEW
Johanna Uusimaa; Johannes Kettunen; Teppo Varilo; Irma Järvelä; Jukka Kallijärvi; Helena Kääriäinen; Minna Laine; Risto Lapatto; Päivi Myllynen; Harri Niinikoski; Elisa Rahikkala; Anu Suomalainen; Ritva Tikkanen; Henna Tyynismaa; Päivi Vieira; Tomas Zarybnicky; Petra Sipilä; Satu Kuure; Reetta Hinttala
26 October 2022
10.1242/dmm.049490
RESEARCH ARTICLE
Katie J. Lee; Lisa Rambault; George Bou-Gharios; Peter D. Clegg; Riaz Akhtar; Gabriela Czanner; Rob van ‘t Hof; Elizabeth G. Canty-Laird
28 September 2022
10.1242/dmm.049428
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
10.1242/dmm.049441
EDITORIAL
Monkol Lek; Julija Hmeljak; Kirsty M. Hooper
30 June 2022
10.1242/dmm.049700
A MODEL FOR LIFE
Monkol Lek
28 June 2022
10.1242/dmm.049694
PERSPECTIVE
Che-Hong Chen; Benjamin R. Kraemer; Daria Mochly-Rosen
24 June 2022
10.1242/dmm.049601
REVIEW
Benjamin J. Livesey; Joseph A. Marsh
23 June 2022
10.1242/dmm.049510
REVIEW
Aashiq H. Kachroo; Michelle Vandeloo; Brittany M. Greco; Mudabir Abdullah
06 June 2022
10.1242/dmm.049309
REVIEW
Ann-Kathrin Schalkamp; Nabila Rahman; Jimena Monzón-Sandoval; Cynthia Sandor
01 June 2022
10.1242/dmm.049376
CLINICAL PUZZLE
Nadia Garibaldi; Roberta Besio; Raymond Dalgleish; Simona Villani; Aileen M. Barnes; Joan C. Marini; Antonella Forlino
16 May 2022
10.1242/dmm.049398
A MODEL FOR LIFE
Hugo J. Bellen
18 March 2022
10.1242/dmm.049500
EDITORIAL
Monkol Lek; Elaine R. Mardis
22 December 2021
10.1242/dmm.049426
