mutation

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 May 2022, jmedgenet-2021-108300; DOI: 10.1136/jmedgenet-2021-108300
Homozygous mutation in MCM7 causes autosomal recessive primary microcephaly and intellectual disability
Ethiraj Ravindran, Cynthia Gutierrez de Velazco, Ali Ghazanfar, Nadine Kraemer, Sami Zaqout, Abdul Waheed, Mohsan Hanif, Sadia Mughal, Alessandro Prigione, Na Li, Xiang Fang, Hao Hu, Angela M Kaindl

Journal of Medical Genetics May 2022, 59 (5) 453-461; DOI: 10.1136/jmedgenet-2020-107518
Patients with KCNH1-related intellectual disability without distinctive features of Zimmermann-Laband/Temple-Baraitser syndrome
Marion Aubert Mucca, Olivier Patat, Sandra Whalen, Lionel Arnaud, Giulia Barcia, Julien Buratti, Benjamin Cogné, Diane Doummar, Caroline Karsenty, Sandra Kenis, Eric Leguern, Gaetan Lesca, Caroline Nava, Mathilde Nizon, Amelie Piton, Stéphanie Valence, Laurent Villard, Sarah Weckhuysen, Boris Keren, Cyril Mignot

Journal of Medical Genetics May 2022, 59 (5) 505-510; DOI: 10.1136/jmedgenet-2020-107511
Mutations in phospholipase C eta-1 (PLCH1) are associated with holoprosencephaly
Ichrak Drissi, Emily Fletcher, Ranad Shaheen, Michael Nahorski, Amal M Alhashem, Steve Lisgo, Alberto Fernández-Jaén, Katherine Schon, Kalthoum Tlili-Graiess, Sarah F Smithson, Susan Lindsay, Hayley J Sharpe, Fowzan S Alkuraya, Geoff Woods

Journal of Medical Genetics Apr 2022, 59 (4) 358-365; DOI: 10.1136/jmedgenet-2020-107237
Improving the clinical interpretation of missense variants in X linked genes using structural analysis
Shalaw Rassul Sallah, Jamie M Ellingford, Panagiotis I Sergouniotis, Simon C Ramsden, Nicholas Lench, Simon C Lovell, Graeme C Black

Journal of Medical Genetics Apr 2022, 59 (4) 385-392; DOI: 10.1136/jmedgenet-2020-107404
Genotype-phenotype correlation in clubfoot (talipes equinovarus)
Ewa Hordyjewska-Kowalczyk, Karol Nowosad, Aleksander Jamsheer, Przemko Tylzanowski

Journal of Medical Genetics Mar 2022, 59 (3) 209-219; DOI: 10.1136/jmedgenet-2021-108040
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 Feb 2022, jmedgenet-2021-108013; DOI: 10.1136/jmedgenet-2021-108013
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 Feb 2022, jmedgenet-2021-108256; DOI: 10.1136/jmedgenet-2021-108256
SOX10: 20 years of phenotypic plurality and current understanding of its developmental function
Veronique Pingault, Lisa Zerad, William Bertani-Torres, Nadege Bondurand

Journal of Medical Genetics Feb 2022, 59 (2) 105-114; DOI: 10.1136/jmedgenet-2021-108105
Functional analysis of TLK2 variants and their proximal interactomes implicates impaired kinase activity and chromatin maintenance defects in their pathogenesis
Lisa Pavinato, Marina Villamor-Payà, Maria Sanchiz-Calvo, Cristina Andreoli, Marina Gay, Marta Vilaseca, Gianluca Arauz-Garofalo, Andrea Ciolfi, Alessandro Bruselles, Tommaso Pippucci, Valentina Prota, Diana Carli, Elisa Giorgio, Francesca Clementina Radio, Vincenzo Antona, Mario Giuffrè, Kara Ranguin, Cindy Colson, Silvia De Rubeis, Paola Dimartino, Joseph D Buxbaum, Giovanni Battista Ferrero, Marco Tartaglia, Simone Martinelli, Travis H Stracker, Alfredo Brusco

Journal of Medical Genetics Feb 2022, 59 (2) 170-179; DOI: 10.1136/jmedgenet-2020-107281

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