CLINICAL

Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis
Natalie Trump, Amy McTague, Helen Brittain, Apostolos Papandreou, Esther Meyer, Adeline Ngoh, Rodger Palmer, Deborah Morrogh, Christopher Boustred, Jane A Hurst, Lucy Jenkins, Manju A Kurian, Richard H Scott

Journal of Medical Genetics May 2016, 53 (5) 310-317; DOI: 10.1136/jmedgenet-2015-103263
Cystic cerebellar dysplasia and biallelic LAMA1 mutations: a lamininopathy associated with tics, obsessive compulsive traits and myopia due to cell adhesion and migration defects
Thierry Vilboux, May Christine V Malicdan, Yun Min Chang, Jennifer Guo, Patricia M Zerfas, Joshi Stephen, Andrew R Cullinane, Joy Bryant, Roxanne Fischer, Brian P Brooks, Wadih M Zein, Edythe A Wiggs, Christopher K Zalewski, Andrea Poretti, Melanie M Bryan, Meghana Vemulapalli, James C Mullikin, Martha Kirby, Stacie M Anderson, NISC Comparative Sequencing Program, Marjan Huizing, Camilo Toro, William A Gahl, Meral Gunay-Aygun

Journal of Medical Genetics May 2016, 53 (5) 318-329; DOI: 10.1136/jmedgenet-2015-103416
A specific mutation in TBL1XR1 causes Pierpont syndrome
Charlotte A Heinen, Aldo Jongejan, Peter J Watson, Bert Redeker, Anita Boelen, Olga Boudzovitch-Surovtseva, Francesca Forzano, Roel Hordijk, Richard Kelley, Ann H Olney, Mary Ella Pierpont, G Bradley Schaefer, Fiona Stewart, A S Paul van Trotsenburg, Eric Fliers, John W R Schwabe, Raoul C Hennekam

Journal of Medical Genetics May 2016, 53 (5) 330-337; DOI: 10.1136/jmedgenet-2015-103233
Genetic spectrum of Saudi Arabian patients with antenatal cystic kidney disease and ciliopathy phenotypes using a targeted renal gene panel
Mohamed H Al-Hamed, Wesam Kurdi, Nada Alsahan, Zainab Alabdullah, Rania Abudraz, Maha Tulbah, Maha Alnemer, Rubina Khan, Haya Al-Jurayb, Ahmed Alahmed, Asma I Tahir, Dania Khalil, Noel Edwards, Basma Al Abdulaziz, Faisal S Binhumaid, Salma Majid, Tariq Faquih, Mohamed El-Kalioby, Mohamed Abouelhoda, Nada Altassan, Dorota Monies, Brian Meyer, John A Sayer, Mamdouh Albaqumi

Journal of Medical Genetics May 2016, 53 (5) 338-347; DOI: 10.1136/jmedgenet-2015-103469
Allele-specific DNA hypomethylation characterises FSHD1 and FSHD2
Patrizia Calandra, Isabella Cascino, Richard J L F Lemmers, Giuliana Galluzzi, Emanuela Teveroni, Mauro Monforte, Giorgio Tasca, Enzo Ricci, Fabiola Moretti, Silvère M van der Maarel, Giancarlo Deidda

Journal of Medical Genetics May 2016, 53 (5) 348-355; DOI: 10.1136/jmedgenet-2015-103436
Epigenetic inheritance of telomere length obscures identification of causative PARN locus
Chao Xing, Christine Kim Garcia

Journal of Medical Genetics May 2016, 53 (5) 356-358; DOI: 10.1136/jmedgenet-2015-103685
KCNT1 mutations in seizure disorders: the phenotypic spectrum and functional effects
Chiao Xin Lim, Michael G Ricos, Leanne M Dibbens, Sarah E Heron

Journal of Medical Genetics Apr 2016, 53 (4) 217-225; DOI: 10.1136/jmedgenet-2015-103508
Constitutional or biallelic? Settling on a name for a recessively inherited cancer susceptibility syndrome
Katharina Wimmer, Laurence Brugières, Alex Duval, Martine Muleris, Christian P Kratz, Hans F A Vasen

Journal of Medical Genetics Apr 2016, 53 (4) 226; DOI: 10.1136/jmedgenet-2015-103249
Genomic analysis of HPV-positive versus HPV-negative oesophageal adenocarcinoma identifies a differential mutational landscape
Shanmugarajah Rajendra, Bin Wang, Neil Merrett, Prateek Sharma, Jeremy Humphris, Hong Ching Lee, Jianmin Wu

Journal of Medical Genetics Apr 2016, 53 (4) 227-231; DOI: 10.1136/jmedgenet-2015-103411
Local genotype influences DNA methylation at two asthma-associated regions, 5q31 and 17q21, in a founder effect population
Abeer Al Tuwaijri, Valérie Gagné-Ouellet, Anne-Marie Madore, Catherine Laprise, Anna K Naumova

Journal of Medical Genetics Apr 2016, 53 (4) 232-241; DOI: 10.1136/jmedgenet-2015-103313

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