sequence analysis

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
Ribosomal protein S6 kinase beta-1 gene variants cause hypertrophic cardiomyopathy
Pratul Kumar Jain, Shashank Jayappa, Thiagarajan Sairam, Anupam Mittal, Sayan Paul, Vinay J Rao, Harshil Chittora, Deepak K Kashyap, Dasaradhi Palakodeti, Kumarasamy Thangaraj, Jayaprakash Shenthar, Rakesh Koranchery, Ranjith Rajendran, Haghighi Alireza, Kurukkanparampil Sreedharan Mohanan, Andiappan Rathinavel, Perundurai S Dhandapany

Journal of Medical Genetics Oct 2022, 59 (10) 984-992; DOI: 10.1136/jmedgenet-2021-107866
Biallelic truncating variants in ATP9A cause a novel neurodevelopmental disorder involving postnatal microcephaly and failure to thrive
Guido Vogt, Sarah Verheyen, Sarina Schwartzmann, Nadja Ehmke, Cornelia Potratz, Anette Schwerin-Nagel, Barbara Plecko, Manuel Holtgrewe, Dominik Seelow, Jasmin Blatterer, Michael R Speicher, Uwe Kornak, Denise Horn, Stefan Mundlos, Björn Fischer-Zirnsak, Felix Boschann

Journal of Medical Genetics Jul 2022, 59 (7) 662-668; DOI: 10.1136/jmedgenet-2021-107843
Results from London Regional Clinical Genetics services over a 5-year period on germline TP53 testing in women diagnosed with breast cancer at <30 years
Alice Garrett, Sabrina Talukdar, Louise Izatt, Angela F Brady, Sinead Whyte, Katherine S Josephs, Monisha Shanmugasundaram, Li Shan Guillemot, Dara Vakili, Shevaun Ey, Munaza Ahmed

Journal of Medical Genetics Jun 2022, 59 (6) 554-558; DOI: 10.1136/jmedgenet-2021-107742
A protein-truncating mutation in CCNB3 in a patient with recurrent miscarriages and failure of meiosis I
Maryam Rezaei, William Buckett, Eric Bareke, Urvashi Surti, Jacek Majewski, Rima Slim

Journal of Medical Genetics Jun 2022, 59 (6) 568-570; DOI: 10.1136/jmedgenet-2021-107875
Analysis of 200 000 exome-sequenced UK Biobank subjects illustrates the contribution of rare genetic variants to hyperlipidaemia
David Curtis

Journal of Medical Genetics Jun 2022, 59 (6) 597-604; DOI: 10.1136/jmedgenet-2021-107752
CRISPR–Cas9/long-read sequencing approach to identify cryptic mutations in BRCA1 and other tumour suppressor genes
Tom Walsh, Silvia Casadei, Katherine M Munson, Mary Eng, Jessica B Mandell, Suleyman Gulsuner, Mary-Claire King

Journal of Medical Genetics Dec 2021, 58 (12) 850-852; DOI: 10.1136/jmedgenet-2020-107320
Learning from massive testing of mitochondrial disorders: UPD explaining unorthodox transmission
Deborah Tolomeo, Anna Rubegni, Claudia Nesti, Melissa Barghigiani, Roberta Battini, Francesca D'Amore, Stefano Doccini, Maria Alice Donati, Daniele Galatolo, Sabrina Giglio, Silvia Guarducci, Marilena Pantaleo, Rosa Pasquariello, Elena Procopio, Francesca Pochiero, Alessandra Tessa, Filippo M M Santorelli

Journal of Medical Genetics Aug 2021, 58 (8) 543-546; DOI: 10.1136/jmedgenet-2020-107644
Pathogenic variants in IMPG1 cause autosomal dominant and autosomal recessive retinitis pigmentosa
Guillaume Olivier, Marta Corton, Daniela Intartaglia, Sanne K Verbakel, Panagiotis I Sergouniotis, Guylène Le Meur, Claire-Marie Dhaenens, Hélène Naacke, Almudena Avila-Fernández, Carel B Hoyng, Jeroen Klevering, Béatrice Bocquet, Agathe Roubertie, Audrey Sénéchal, Sandro Banfi, Agnès Muller, Christian L Hamel, Graeme C Black, Ivan Conte, Susanne Roosing, Xavier Zanlonghi, Carmen Ayuso, Isabelle Meunier, Gaël Manes

Journal of Medical Genetics Aug 2021, 58 (8) 570-578; DOI: 10.1136/jmedgenet-2020-107150
Biallelic variants in ADARB1, encoding a dsRNA-specific adenosine deaminase, cause a severe developmental and epileptic encephalopathy
Reza Maroofian, Jiří Sedmík, Neda Mazaheri, Marcello Scala, Maha S Zaki, Liam P Keegan, Reza Azizimalamiri, Mahmoud Issa, Gholamreza Shariati, Alireza Sedaghat, Christian Beetz, Peter Bauer, Hamid Galehdari, Mary A O’Connell, Henry Houlden

Journal of Medical Genetics Jul 2021, 58 (7) 495-504; DOI: 10.1136/jmedgenet-2020-107048

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