genetics

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 2021, jmedgenet-2020-107237; DOI: 10.1136/jmedgenet-2020-107237
Clinical and subclinical findings in heterozygous ABCC6 carriers: results from a Belgian cohort and clinical practice guidelines
Lukas Nollet, Laurence Campens, Julie De Zaeytijd, Bart Leroy, Dimitri Hemelsoet, Paul J Coucke, Olivier M Vanakker

Journal of Medical Genetics Apr 2021, jmedgenet-2020-107565; DOI: 10.1136/jmedgenet-2020-107565
Adult phenotype of KCNQ2 encephalopathy
Stephanie Boets, Katrine M Johannesen, Anne Destree, Filippo Manti, Georgia Ramantani, Gaetan Lesca, Laurent Vercueil, Mary Kay Koenig, Pasquale Striano, Rikke Steensbjerre Møller, Edward Cooper, Sarah Weckhuysen

Journal of Medical Genetics Apr 2021, jmedgenet-2020-107449; DOI: 10.1136/jmedgenet-2020-107449
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 Apr 2021, jmedgenet-2020-107511; DOI: 10.1136/jmedgenet-2020-107511
Genetic origin of sporadic cases and RNA toxicity in neuronal intranuclear inclusion disease
Jianwen Deng, Binbin Zhou, Jiaxi Yu, Xiaochen Han, Jianhui Fu, Xiaobin Li, Xufang Xie, Min Zhu, Yilei Zheng, Xueyu Guo, Pidong Li, Qingqing Wang, Jing Liu, Wei Zhang, Yun Yuan, Sheng Yao, Zhaoxia Wang, Daojun Hong

Journal of Medical Genetics Mar 2021, jmedgenet-2020-107649; DOI: 10.1136/jmedgenet-2020-107649
High likelihood of actionable pathogenic variant detection in breast cancer genes in women with very early onset breast cancer
D Gareth Evans, Elke Maria van Veen, Helen J Byers, Sarah J Evans, George J Burghel, Emma Roisin Woodward, Elaine F Harkness, Diana M Eccles, Stephanie L Greville-Haygate, Jamie M Ellingford, Naomi L Bowers, Marta Pereira, Andrew J Wallace, Sasha J Howell, Anthony Howell, Fiona Lalloo, William G Newman, Miriam Jane Smith

Journal of Medical Genetics Mar 2021, jmedgenet-2020-107347; DOI: 10.1136/jmedgenet-2020-107347
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 Mar 2021, jmedgenet-2020-107350; DOI: 10.1136/jmedgenet-2020-107350
Loss-of-function variants in POT1 predispose to uveal melanoma
Vaishnavi Nathan, Jane M Palmer, Peter A Johansson, Hayley R Hamilton, Sunil K Warrier, William Glasson, Lindsay A McGrath, Vivian F S Kahl, Raja S Vasireddy, Hilda A Pickett, Kelly M Brooks, Antonia L Pritchard, Nicholas K Hayward

Journal of Medical Genetics Apr 2021, 58 (4) 234-236; DOI: 10.1136/jmedgenet-2020-107098
Bi-allelic TTC5 variants cause delayed developmental milestones and intellectual disability
Arisha Rasheed, Evren Gumus, Maha Zaki, Katherine Johnson, Humera Manzoor, Geneva LaForce, Danica Ross, Jennifer McEvoy-Venneri, Valentina Stanley, Sangmoon Lee, Abbir Virani, Tawfeg Ben-Omran, Joseph G Gleeson, Sadaf Naz, Ashleigh Schaffer

Journal of Medical Genetics Apr 2021, 58 (4) 237-246; DOI: 10.1136/jmedgenet-2020-106849
TMEM16A deficiency: a potentially fatal neonatal disease resulting from impaired chloride currents
Julien H Park, Jiraporn Ousingsawat, Inês Cabrita, Ruth E Bettels, Jörg Große-Onnebrink, Christian Schmalstieg, Saskia Biskup, Janine Reunert, Stephan Rust, Rainer Schreiber, Karl Kunzelmann, Thorsten Marquardt

Journal of Medical Genetics Apr 2021, 58 (4) 247-253; DOI: 10.1136/jmedgenet-2020-106978

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