Journal of Medical Genetics: 56 (12)

Diagnostics

Review: Case for genome sequencing in infants and children with rare, undiagnosed or genetic diseases (25 April, 2019)
David Bick, Marilyn Jones, Stacie L Taylor, Ryan J Taft, John Belmont
Position statement: CCMG practice guideline: laboratory guidelines for next-generation sequencing (12 July, 2019)
Stacey Hume, Tanya N Nelson, Marsha Speevak, Elizabeth McCready, Ron Agatep, Harriet Feilotter, Jillian Parboosingh, Dimitri J Stavropoulos, Sherryl Taylor, Tracy L Stockley

Original article: Genetic factors contributing to autism spectrum disorder in Williams-Beuren syndrome (14 August, 2019)
Marta Codina-Sola, Mar Costa-Roger, Debora Pérez-García, Raquel Flores, Maria Gabriela Palacios-Verdú, Ivon Cusco, Luis Alberto Pérez-Jurado

Original article: Impact of DNA source on genetic variant detection from human whole-genome sequencing data (12 September, 2019)
Brett Trost, Susan Walker, Syed A Haider, Wilson W L Sung, Sergio Pereira, Charly L Phillips, Edward J Higginbotham, Lisa J Strug, Charlotte Nguyen, Akshaya Raajkumar, Michael J Szego, Christian R Marshall, Stephen W Scherer

Original article:
Differential disruption of autoinhibition and defect in assembly of cytoskeleton during cell division decide the fate of human DIAPH1-related cytoskeletopathy
(31 August, 2019)
Bong Jik Kim, Takehiko Ueyama, Takushi Miyoshi, Seungmin Lee, Jin Hee Han, Hye-Rim Park, Ah Reum Kim, Jayoung Oh, Min Young Kim, Yong Seok Kang, Doo Yi Oh, Jiwon Yun, Sang Mee Hwang, Nayoung K D Kim, Woong-Yang Park, Shin-ichiro Kitajiri, Byung Yoon Choi

Intronic SMCHD1 variants in FSHD: testing the potential for CRISPR-Cas9 genome editing
(1 November, 2019)
Remko Goossens, Marlinde L van den Boogaard, Richard J L F Lemmers, Judit Balog, Patrick J van der Vliet, Iris M Willemsen, Julie Schouten, Ignazio Maggio, Nienke van der Stoep, Rob C Hoeben, Stephen J Tapscott, Niels Geijsen, Manuel A F V Gonçalves, Sabrina Sacconi, Rabi Tawil, Silvère M van der Maarel

Original article:
Clinical features and cancer risk in families with pathogenic CDH1 variants irrespective of clinical criteria
(11 July, 2019) Free
Rosa M Xicola, Shuwei Li, Nicolette Rodriguez, Patrick Reinecke, Rachid Karam, Virginia Speare, Mary Helen Black, Holly LaDuca, Xavier Llor
Communications: Gastric cancer in Lynch syndrome is associated with underlying immune gastritis (4 May, 2019)
Tomer Adar, Madeline Friedman, Linda H Rodgers, Kristen M Shannon, Lawrence R Zukerberg, Daniel C Chung

Short report:
A novel mutation in the GFAP gene expands the phenotype of Alexander disease
(19 April, 2019)
Carlos Casasnovas, Edgard Verdura, Valentina Vélez, Agatha Schlüter, Albert Pons-Escoda, Christian Homedes, Montserrat Ruiz, Stéphane Fourcade, Nathalie Launay, Aurora Pujol