genetics

Diagnostic exome sequencing in non-acquired focal epilepsies highlights a major role of GATOR1 complex genes
Martin Krenn, Matias Wagner, Christoph Hotzy, Elisabeth Graf, Sandrina Weber, Theresa Brunet, Bettina Lorenz-Depiereux, Gregor Kasprian, Susanne Aull-Watschinger, Ekaterina Pataraia, Elisabeth Stogmann, Alexander Zimprich, Tim M Strom, Thomas Meitinger, Fritz Zimprich

Journal of Medical Genetics Feb 2020, jmedgenet-2019-106658; DOI: 10.1136/jmedgenet-2019-106658
NEK11 as a candidate high-penetrance melanoma susceptibility gene
Eirini Christodoulou, Remco van Doorn, Mijke Visser, Amina Teunisse, Mieke Versluis, Pieter van der Velden, Nicholas K Hayward, Aart Jochemsen, Nelleke Gruis

Journal of Medical Genetics Mar 2020, 57 (3) 203-210; DOI: 10.1136/jmedgenet-2019-106134
MicroRNA-4516-mediated regulation of MAPK10 relies on 3′ UTR cis-acting variants and contributes to the altered risk of Hirschsprung disease
Yang Wang, Qian Jiang, Aravinda Chakravarti, Hao Cai, Ze Xu, Wenjie Wu, Beilin Gu, Long Li, Wei Cai

Journal of Medical Genetics Feb 2020, jmedgenet-2019-106615; DOI: 10.1136/jmedgenet-2019-106615
Investigating the genetic susceptibility to exertional heat illness
Lois Gardner, Dorota M Miller, Catherine Daly, Pawan K Gupta, Carol House, Daniel Roiz de Sa, Marie-Anne Shaw, Philip M Hopkins

Journal of Medical Genetics Feb 2020, jmedgenet-2019-106461; DOI: 10.1136/jmedgenet-2019-106461
Excess of singleton loss-of-function variants in Parkinson’s disease contributes to genetic risk
Dheeraj Reddy Bobbili, Peter Banda, Rejko Krüger, Patrick May

Journal of Medical Genetics Feb 2020, jmedgenet-2019-106316; DOI: 10.1136/jmedgenet-2019-106316
Whole genome sequence-based haplotypes reveal a single origin of the 1393 bp HBB deletion
Xunde Wang, Julia Z Xu, Anna Conrey, Laurel Mendelsohn, Daniel Shriner, Mehdi Pirooznia, Swee Lay Thein

Journal of Medical Genetics Jan 2020, jmedgenet-2019-106698; DOI: 10.1136/jmedgenet-2019-106698
Higher burden of rare frameshift indels in genes related to synaptic transmission separate familial hemiplegic migraine from common types of migraine
Andreas Hoiberg Rasmussen, Isa Olofsson, Mona Ameri Chalmer, Jes Olesen, Thomas Folkmann Hansen

Journal of Medical Genetics Jan 2020, jmedgenet-2019-106640; DOI: 10.1136/jmedgenet-2019-106640
De novo variants in SUPT16H cause neurodevelopmental disorders associated with corpus callosum abnormalities
Roya Bina, Dena Matalon, Brieana Fregeau, Jacqueline Joani Tarsitano, Ingvild Aukrust, Gunnar Houge, Renee Bend, Hannah Warren, Roger E Stevenson, Kyra Eva Stuurman, A James Barkovich, Elliott H. Sherr

Journal of Medical Genetics Jan 2020, jmedgenet-2019-106193; DOI: 10.1136/jmedgenet-2019-106193
Xq28 copy number gain causing moyamoya disease and a novel moyamoya syndrome
Chaker Aloui, Stéphanie Guey, Eva Pipiras, Manoelle Kossorotoff, Sophie Guéden, Michaelle Corpechot, Pierre Bessou, Jean-Michel Pedespan, Marie Husson, Dominique Hervé, Florence Riant, Markus Kraemer, Julie Steffann, Olivier Quenez, Elisabeth Tournier-Lasserve

Journal of Medical Genetics Jan 2020, jmedgenet-2019-106525; DOI: 10.1136/jmedgenet-2019-106525
Homozygous damaging SOD2 variant causes lethal neonatal dilated cardiomyopathy
Rowida Almomani, Johanna C Herkert, Anna Posafalvi, Jan G Post, Ludolf G Boven, Paul A van der Zwaag, Peter H G M Willems, Ingrid H van Veen-Hof, Judith M A Verhagen, Marja W Wessels, Peter G J Nikkels, Liesbeth T Wintjes, Maarten P van den Berg, Richard J Sinke, Richard J Rodenburg, Klary E Niezen-Koning, J Peter van Tintelen, Jan D H Jongbloed

Journal of Medical Genetics Jan 2020, 57 (1) 23-30; DOI: 10.1136/jmedgenet-2019-106330

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