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Rare Disease
Rare diseases cover a wide range of phenotypes, affecting nearly any organ system or biological function. Individually, they might affect only a few people, making them difficult to recognise, diagnose or treat by studying humans alone. This collection, launched on Rare Disease Day 2019, features articles that show how model systems reveal new gene functions, can be used in preclinical studies, and enable the screening of novel and repurposed treatments for rare diseases.
EDITORIAL
Kirsty M. Hooper; Julija Hmeljak
22 September 2023
10.1242/dmm.050495
RESEARCH ARTICLE
David Mengel; Isabel G. Wellik; Kristen H. Schuster; Sabrina I. Jarrah; Madeleine Wacker; Naila S. Ashraf; Gülin Öz; Matthis Synofzik; Maria do Carmo Costa; Hayley S. McLoughlin
04 September 2023
10.1242/dmm.050144
RESEARCH ARTICLE
Selin Gümüşderelioğlu; Lauren Resch; Trisha Brock; Undiagnosed Diseases Network; G. W. Gant Luxton; Heidi Cope; Queenie K.-G. Tan; Christopher Hopkins; Daniel A. Starr
29 August 2023
10.1242/dmm.050076
RESEARCH ARTICLE
Ramón García-Sanz; María García-Álvarez; Alejandro Medina; Elham Askari; Verónica González-Calle; María Casanova; Igor de la Torre-Loizaga; Fernando Escalante-Barrigón; Miguel Bastos-Boente; Abelardo Bárez; Nerea Vidaña-Bedera; José María Alonso; María Eugenia Sarasquete; Marcos González; María Carmen Chillón; Miguel Alcoceba; Cristina Jiménez
23 August 2023
10.1242/dmm.050227
RESEARCH ARTICLE
Bridget M. Stroup; Xiaohui Li; Sara Ho; Haonan Zhouyao; Yuqing Chen; Safa Ani; Brian Dawson; Zixue Jin; Ronit Marom; Ming-Ming Jiang; Isabel Lorenzo; Daniel Rosen; Denise Lanza; Nathalie Aceves; Sara Koh; John R. Seavitt; Jason D. Heaney; Brendan Lee; Lindsay C. Burrage
17 August 2023
10.1242/dmm.050118
RESEARCH ARTICLE
Vicki J. Swier; Katherine A. White; Tyler B. Johnson; Xiaojun Wang; Jimin Han; David A. Pearce; Ruchira Singh; Arlene V. Drack; Wanda Pfeifer; Christopher S. Rogers; Jon J. Brudvig; Jill M. Weimer
07 August 2023
10.1242/dmm.050038
REVIEW
José L. Marín-Rubio; Ishier Raote; Joseph Inns; Carol Dobson-Stone; Neil Rajan
30 June 2023
10.1242/dmm.050093
RESOURCE ARTICLE
Tomoya Kubota; Satoe Takahashi; Risa Yamamoto; Ruka Sato; Aya Miyanooto; Reina Yamamoto; Kosuke Yamauchi; Kazuaki Homma; Masanori P. Takahashi
27 June 2023
10.1242/dmm.049704
RESEARCH ARTICLE | REVIEW COMMONS TRANSFER
Sara Bonzano; Eleonora Dallorto; Ivan Molineris; Filippo Michelon; Isabella Crisci; Giovanna Gambarotta; Francesco Neri; Salvatore Oliviero; Ruth Beckervordersandforth; Dieter Chichung Lie; Paolo Peretto; Serena Bovetti; Michèle Studer; Silvia De Marchis
26 June 2023
10.1242/dmm.049854
RESEARCH ARTICLE
Valentina Zuco; Sandro Pasquali; Monica Tortoreto; Stefano Percio; Valentina Doldi; Marta Barisella; Paola Collini; Gian Paolo Dagrada; Silvia Brich; Patrizia Gasparini; Marco Fiore; Michela Casanova; Anna Maria Frezza; Alessandro Gronchi; Silvia Stacchiotti; Andrea Ferrari; Nadia Zaffaroni
14 June 2023
10.1242/dmm.049649
RESEARCH ARTICLE
Céline Schaeffer; Maurizio De Fusco; Elena Pasqualetto; Caterina Scolari; Claudia Izzi; Francesco Scolari; Luca Rampoldi
07 June 2023
10.1242/dmm.049963
RESEARCH ARTICLE
Ariany Oliveira-Santos; Marisela Dagda; Jennifer Wittmann; Robert Smalley; Dean J. Burkin
10 May 2023
10.1242/dmm.049916
REVIEW
Agnese Kocere; Robert L. Lalonde; Christian Mosimann; Alexa Burger
02 May 2023
10.1242/dmm.049735
RESEARCH ARTICLE
Sarah J. Gignac; Katja R. MacCharles; Katherine Fu; Kywana Bonaparte; Gamze Akarsu; Thalia W. Barrett; Esther M. Verheyen; Joy M. Richman
13 April 2023
10.1242/dmm.049844
RESEARCH ARTICLE
Ryan O. Snodgrass; Karan Govindpani; Karen Plant; Elisabeth C. Kugler; Changmin Doh; Thomas Dawson; Luis E. McCormack; Helen M. Arthur; Timothy J. A. Chico
30 March 2023
10.1242/dmm.049567
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
10.1242/dmm.049802
RESEARCH ARTICLE
Bethany A. Freel; Benjamin A. Kelvington; Sonali Sengupta; Malini Mukherjee; Kevin R. Francis
16 December 2022
10.1242/dmm.049843
RESEARCH ARTICLE
Sueanne Chear; Sharn Perry; Richard Wilson; Aidan Bindoff; Jana Talbot; Tyson L. Ware; Alexandra Grubman; James C. Vickers; Alice Pébay; Jonathan B. Ruddle; Anna E. King; Alex W. Hewitt; Anthony L. Cook
13 December 2022
10.1242/dmm.049651
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
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
