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mutation

  • Long-term multisystemic efficacy of migalastat on Fabry-associated clinical events, including renal, cardiac and cerebrovascular outcomes
    Derralynn A Hughes, Daniel G Bichet, Roberto Giugliani, Robert J Hopkin, Eva Krusinska, Kathleen Nicholls, Iacopo Olivotto, Ulla Feldt-Rasmussen, Norio Sakai, Nina Skuban, Gere Sunder-Plassmann, Roser Torra, William R Wilcox
    Journal of Medical Genetics Jul 2023, 60 (7) 722-731; DOI: 10.1136/jmg-2022-108669
  • Genetic T-type calcium channelopathies
    Norbert Weiss, Gerald W Zamponi
    Journal of Medical Genetics Jan 2020, 57 (1) 1-10; DOI: 10.1136/jmedgenet-2019-106163
  • Dominant negative mutation in oxalate transporter SLC26A6 associated with enteric hyperoxaluria and nephrolithiasis
    Nicolas Cornière, R Brent Thomson, Stéphanie Thauvin, Bruno O Villoutreix, Sophie Karp, Diane W Dynia, Sarah Burlein, Lennart Brinkmann, Alaa Badreddine, Aurélie Dechaume, Mehdi Derhourhi, Emmanuelle Durand, Emmanuel Vaillant, Philippe Froguel, Régine Chambrey, Peter S Aronson, Amélie Bonnefond, Dominique Eladari
    Journal of Medical Genetics Nov 2022, 59 (11) 1035-1043; DOI: 10.1136/jmedgenet-2021-108256
  • Novel POLE mutations identified in patients with IMAGE-I syndrome cause aberrant subcellular localisation and protein degradation in the nucleus
    Tomohiro Nakano, Yoji Sasahara, Atsuo Kikuchi, Kunihiko Moriya, Hidetaka Niizuma, Tetsuya Niihori, Matsuyuki Shirota, Ryo Funayama, Keiko Nakayama, Yoko Aoki, Shigeo Kure
    Journal of Medical Genetics Nov 2022, 59 (11) 1116-1122; DOI: 10.1136/jmedgenet-2021-108300
  • A founder UMOD variant is a common cause of hereditary nephropathy in the British population
    Manoj K Valluru, Noelle KX Chung, Mark Gilchrist, Laura Butland, Jackie Cook, Anna Takou, Abhijit Dixit, Michael N Weedon, Albert C M Ong
    Journal of Medical Genetics Apr 2023, 60 (4) 397-405; DOI: 10.1136/jmg-2022-108704
  • Long-term tumour dormancy in a BRCA1 heterozygote
    Setor Amuzu, Lili Fu, Nadine Demko, Barbara Rivera, Celine Domecq, Leanne de Kock, Nancy Hamel, Lucy Gilbert, Paz Polak, Jiannis Ragoussis, William D Foulkes
    Journal of Medical Genetics Jan 2023, 60 (1) 33-35; DOI: 10.1136/jmedgenet-2021-108269
  • RNA splicing analysis contributes to reclassifying variants of uncertain significance and improves the diagnosis of monogenic disorders
    Wen-Bin He, Wen-Juan Xiao, Cong-Ling Dai, Yu-Rong Wang, Xiu-Rong Li, Fei Gong, Lan-Lan Meng, Chen Tan, Si-Cong Zeng, Guang-Xiu Lu, Ge Lin, Yue-Qiu Tan, Hao Hu, Juan Du
    Journal of Medical Genetics Oct 2022, 59 (10) 1010-1016; DOI: 10.1136/jmedgenet-2021-108013
  • Sporadic facial angiofibroma and sporadic angiomyolipoma mimicking tuberous sclerosis complex
    Katarzyna Klonowska, Elizabeth A Thiele, Joannes M Grevelink, Aaron R Thorner, David J Kwiatkowski
    Journal of Medical Genetics Sep 2022, 59 (9) 920-923; DOI: 10.1136/jmedgenet-2021-108160
  • De novo coding variants in the AGO1 gene cause a neurodevelopmental disorder with intellectual disability
    Audrey Schalk, Margot A Cousin, Nikita R Dsouza, Thomas D Challman, Karen E Wain, Zoe Powis, Kelly Minks, Aurélien Trimouille, Eulalie Lasseaux, Didier Lacombe, Chloé Angelini, Vincent Michaud, Julien Van-Gils, Nino Spataro, Anna Ruiz, Elizabeth Gabau, Elliot Stolerman, Camerun Washington, Ray Louie, Brendan C Lanpher, Jennifer L Kemppainen, Micheil Innes, Frank Kooy, Marije Meuwissen, Alice Goldenberg, Francois Lecoquierre, Gabriella Vera, Karin E M Diderich, Beth Sheidley, Christelle Moufawad El Achkar, Meredith Park, Fadi F Hamdan, Jacques L Michaud, Ann J Lewis, Christiane Zweier, André Reis, Matias Wagner, Heike Weigand, Hubert Journel, Boris Keren, Sandrine Passemard, Cyril Mignot, Koen van Gassen, Eva H Brilstra, Gina Itzikowitz, Emily O'Heir, Jake Allen, Kirsten A Donald, Bruce Richard Korf, Tammi Skelton, Michelle Thompson, Nathaniel H Robin, Natasha L Rudy, William B Dobyns, Kimberly Foss, Yuri Alexander Zarate, Katherine A Bosanko, Yves Alembik, Benjamin Durand, Frederic Tran Mau-them, Emmanuelle Ranza, Xavier Blanc, Stylianos E Antonarakis, Kirsty McWalter, Erin Torti, Francisca Millan, Amy Dameron, Mari Tokita, Michael T Zimmermann, Eric W Klee, Amelie Piton, Benedicte Gerard
    Journal of Medical Genetics Oct 2022, 59 (10) 965-975; DOI: 10.1136/jmedgenet-2021-107751
  • O’Donnell-Luria-Rodan syndrome: description of a second multinational cohort and refinement of the phenotypic spectrum
    Clara Velmans, Anne H O'Donnell-Luria, Emanuela Argilli, Frederic Tran Mau-them, Antonio Vitobello, Marcus CY Chan, Jasmine Lee-Fong Fung, Megan Rech, Angela Abicht, Marion Aubert Mucca, Jason Carmichael, Nicolas Chassaing, Robin Clark, Christine Coubes, Anne-Sophie Denommé-Pichon, John Karl de Dios, Eleina England, Benoit Funalot, Marion Gerard, Maries Joseph, Colleen Kennedy, Camille Kumps, Marjolaine Willems, Ingrid M B.H van de Laar, Coranne Aarts-Tesselaar, Marjon van Slegtenhorst, Daphné Lehalle, Kathleen Leppig, Lennart Lessmeier, Lynn S Pais, Heather Paterson, Subhadra Ramanathan, Lance H Rodan, Andrea Superti-Furga, Brian H.Y. Chung, Elliott Sherr, Christian Netzer, Christian P Schaaf, Florian Erger
    Journal of Medical Genetics Jul 2022, 59 (7) 697-705; DOI: 10.1136/jmedgenet-2020-107470

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