mutation, missense

Classification of PTEN germline non-truncating variants: a new approach to interpretation
Henri Margot, Natalie Jones, Thibaut Matis, Dominique Bonneau, Tiffany Busa, Françoise Bonnet, Solene Conrad, Louise Crivelli, Pauline Monin, Sandra Fert-Ferrer, Isabelle Mortemousque, Sabine Raad, Didier Lacombe, Frédéric Caux, Nicolas Sevenet, Virginie Bubien, Michel Longy

Journal of Medical Genetics Dec 2024, 61 (12) 1071-1079; DOI: 10.1136/jmg-2024-109982
A comparative medical genomics approach may facilitate the interpretation of rare missense variation
Bushra Haque, George Guirguis, Meredith Curtis, Hera Mohsin, Susan Walker, Michelle M Morrow, Gregory Costain

Journal of Medical Genetics Aug 2024, 61 (8) 817-821; DOI: 10.1136/jmg-2023-109760
BTB domain mutations perturbing KCTD15 oligomerisation cause a distinctive frontonasal dysplasia syndrome
Kerry A Miller, David A Cruz Walma, Daniel M Pinkas, Rebecca S Tooze, Joshua C Bufton, William Richardson, Charlotte E Manning, Alice E Hunt, Julien Cros, Verity Hartill, Michael J Parker, Simon J McGowan, Stephen R F Twigg, Rod Chalk, David Staunton, David Johnson, Andrew O M Wilkie, Alex N Bullock

Journal of Medical Genetics May 2024, 61 (5) 490-501; DOI: 10.1136/jmg-2023-109531
SMARCA4 mutation causes human otosclerosis and a similar phenotype in mice
Max Drabkin, Matan M Jean, Yael Noy, Daniel Halperin, Yuval Yogev, Ohad Wormser, Regina Proskorovski-Ohayon, Vadim Dolgin, Noam Levaot, Vlad Brumfeld, Shira Ovadia, Mor Kishner, Udi Kazenell, Karen B Avraham, Ilan Shelef, Ohad S Birk

Journal of Medical Genetics Feb 2024, 61 (2) 117-124; DOI: 10.1136/jmg-2023-109264
Evidence of a genetic background predisposing to complex regional pain syndrome type 1
Samiha S Shaikh, Andreas Goebel, Michael C Lee, Michael S Nahorski, Nicholas Shenker, Yunisa Pamela, Ichrak Drissi, Christopher Brown, Gillian Ison, Maliha F Shaikh, Anoop Kuttikat, William A Woods, Abhishek Dixit, Kaitlin Stouffer, Murray CH Clarke, David K Menon, C Geoffrey Woods

Journal of Medical Genetics Feb 2024, 61 (2) 163-170; DOI: 10.1136/jmg-2023-109236
TP53 c.455C>T p.(Pro152Leu) pathogenic variant is a lower risk allele with attenuated risks of breast cancer and sarcoma
D Gareth Evans, Elaine F Harkness, Emma R Woodward

Journal of Medical Genetics Nov 2023, 60 (11) 1057-1060; DOI: 10.1136/jmg-2022-109133
Pseudocoloboma-like maculopathy with biallelic RDH12 missense mutations
Che-Yuan Kuo, Ming-Yi Chung, Shih-Jen Chen

Journal of Medical Genetics Sep 2023, 60 (9) 859-865; DOI: 10.1136/jmg-2022-108918
Gain-of-function p.F28S variant in RAC3 disrupts neuronal differentiation, migration and axonogenesis during cortical development, leading to neurodevelopmental disorder
Masashi Nishikawa, Marcello Scala, Muhammad Umair, Hidenori Ito, Ahmed Waqas, Pasquale Striano, Federico Zara, Gregory Costain, Valeria Capra, Koh-ichi Nagata

Journal of Medical Genetics Mar 2023, 60 (3) 223-232; DOI: 10.1136/jmedgenet-2022-108483
De novo missense variants in LMBRD2 are associated with developmental and motor delays, brain structure abnormalities and dysmorphic features
Alka Malhotra, Alban Ziegler, Li Shu, Renee Perrier, Louise Amlie-Wolf, Elizabeth Wohler, Nara Lygia de Macena Sobreira, Estelle Colin, Adeline Vanderver, Omar Sherbini, Katrien Stouffs, Emmanuel Scalais, Alessandro Serretti, Magalie Barth, Benjamin Navet, Paul Rollier, Hui Xi, Hua Wang, Hainan Zhang, Denise L Perry, Alessandra Ferrarini, Roberto Colombo, Alexander Pepler, Adele Schneider, Kiyotaka Tomiwa, Nobuhiko Okamoto, Naomichi Matsumoto, Noriko Miyake, Ryan Taft, Xiao Mao, Dominique Bonneau

Journal of Medical Genetics Oct 2021, 58 (10) 712-716; DOI: 10.1136/jmedgenet-2020-107137

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mutation, missense