sequence analysis

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
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 Jul 2021, jmedgenet-2021-107742; DOI: 10.1136/jmedgenet-2021-107742
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 Jun 2021, jmedgenet-2021-107843; DOI: 10.1136/jmedgenet-2021-107843
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 May 2021, jmedgenet-2021-107875; 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 Apr 2021, jmedgenet-2021-107752; DOI: 10.1136/jmedgenet-2021-107752
Emerging roles of rare and low-frequency genetic variants in type 1 diabetes mellitus
Haipeng Pang, Ying Xia, Shuoming Luo, Gan Huang, Xia Li, Zhiguo Xie, Zhiguang Zhou

Journal of Medical Genetics May 2021, 58 (5) 289-296; DOI: 10.1136/jmedgenet-2020-107350
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 Oct 2020, jmedgenet-2020-107320; DOI: 10.1136/jmedgenet-2020-107320
High diagnostic yield of syndromic intellectual disability by targeted next-generation sequencing
Francisco Martínez, Alfonso Caro-Llopis, Mónica Roselló, Silvestre Oltra, Sonia Mayo, Sandra Monfort, Carmen Orellana

Journal of Medical Genetics Feb 2017, 54 (2) 87-92; DOI: 10.1136/jmedgenet-2016-103964

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sequence analysis