genetics

Reasons for and time to retraction of genetics articles published between 1970 and 2018
Rafael Dal-Ré, Carmen Ayuso

Journal of Medical Genetics Jul 2019, jmedgenet-2019-106137; DOI: 10.1136/jmedgenet-2019-106137
Long-read sequencing identified repeat expansions in the 5′UTR of the NOTCH2NLC gene from Chinese patients with neuronal intranuclear inclusion disease
Jianwen Deng, Muliang Gu, Yu Miao, Sheng Yao, Min Zhu, Pu Fang, Xuefan Yu, Pidong Li, Yanan Su, Jian Huang, Jun Zhang, Jiaxi Yu, Fan Li, Jing Bai, Wei Sun, Yining Huang, Yun Yuan, Daojun Hong, Zhaoxia Wang

Journal of Medical Genetics Aug 2019, jmedgenet-2019-106268; DOI: 10.1136/jmedgenet-2019-106268
Pathogenic variants in the AFG3L2 proteolytic domain cause SCA28 through haploinsufficiency and proteostatic stress-driven OMA1 activation
Susanna Tulli, Andrea Del Bondio, Valentina Baderna, Davide Mazza, Franca Codazzi, Tyler Mark Pierson, Alessandro Ambrosi, Dagmar Nolte, Cyril Goizet, Camilo Toro, Jonathan Baets, Tine Deconinck, Peter DeJonghe, Paola Mandich, Giorgio Casari, Francesca Maltecca

Journal of Medical Genetics Aug 2019, 56 (8) 499-511; DOI: 10.1136/jmedgenet-2018-105766
CCMG practice guideline: laboratory guidelines for next-generation sequencing
Stacey Hume, Tanya N Nelson, Marsha Speevak, Elizabeth McCready, Ron Agatep, Harriet Feilotter, Jillian Parboosingh, Dimitri J Stavropoulos, Sherryl Taylor, Tracy L Stockley

Journal of Medical Genetics Jul 2019, jmedgenet-2019-106152; DOI: 10.1136/jmedgenet-2019-106152
Genome-wide meta-analysis identifies genetic locus on chromosome 9 associated with Modic changes
Maxim Freidin, Minna Kraatari, Sini Skarp, Juhani Määttä, Johannes Kettunen, Jaakko Niinimäki, Jaro Karppinen, Frances Williams, Minna Männikkö

Journal of Medical Genetics Jul 2019, 56 (7) 420-426; DOI: 10.1136/jmedgenet-2018-105726
SMAD3 pathogenic variants: risk for thoracic aortic disease and associated complications from the Montalcino Aortic Consortium
Ellen M Hostetler, Ellen S Regalado, Dong-Chuan Guo, Nadine Hanna, Pauline Arnaud, Laura Muiño-Mosquera, Bert Louis Callewaert, Kwanghyuk Lee, Suzanne M Leal, Stephanie E Wallace, Andrea L Rideout, Sarah Dyack, Rajani D Aatre, Catherine Boileau, Julie De Backer, Guillaume Jondeau, Dianna M Milewicz

Journal of Medical Genetics Apr 2019, 56 (4) 252-260; DOI: 10.1136/jmedgenet-2018-105583
Advances in identification of genes involved in autosomal recessive intellectual disability: a brief review
Yaser Rafiq Mir, Raja Amir Hassan Kuchay

Journal of Medical Genetics Mar 2019, jmedgenet-2018-105821; DOI: 10.1136/jmedgenet-2018-105821
Common variants at 5q33.1 predispose to migraine in African-American children
Xiao Chang, Renata Pellegrino, James Garifallou, Michael March, James Snyder, Frank Mentch, Jin Li, Cuiping Hou, Yichuan Liu, Patrick M A Sleiman, Hakon Hakonarson

Journal of Medical Genetics Dec 2018, 55 (12) 831-836; DOI: 10.1136/jmedgenet-2018-105359
Genome sequencing reveals a deep intronic splicing ACVRL1 mutation hotspot in Hereditary Haemorrhagic Telangiectasia
Whitney L. Wooderchak-Donahue, Jamie McDonald, Andrew Farrell, Gulsen Akay, Matt Velinder, Peter Johnson, Chad VanSant-Webb, Rebecca Margraf, Eric Briggs, Kevin J Whitehead, Jennifer Thomson, Angela E Lin, Reed E Pyeritz, Gabor Marth, Pinar Bayrak-Toydemir

Journal of Medical Genetics Dec 2018, 55 (12) 824-830; DOI: 10.1136/jmedgenet-2018-105561
PEHO syndrome: the endpoint of different genetic epilepsies
Manali Chitre, Michael S Nahorski, Kaitlin Stouffer, Bryony Dunning-Davies, Hamish Houston, Emma L Wakeling, Angela F Brady, Sameer M Zuberi, Mohnish Suri, Alasdair P J Parker, C Geoffrey Woods

Journal of Medical Genetics Dec 2018, 55 (12) 803-813; DOI: 10.1136/jmedgenet-2018-105288

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