Impact of DNA source on genetic variant detection from human whole-genome sequencing data

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

10.1136/jmedgenet-2019-106281

September 12, 2019

Case for genome sequencing in infants and children with rare, undiagnosed or genetic diseases

David Bick, Marilyn Jones, Stacie L Taylor, Ryan J Taft, John Belmont

10.1136/jmedgenet-2019-106111

April 25, 2019

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

10.1136/jmedgenet-2019-106152

July 12, 2019

Estimating the effect size of the 15Q11.2 BP1–BP2 deletion and its contribution to neurodevelopmental symptoms: recommendations for practice

Aia Elise Jønch, Elise Douard, Clara Moreau, Anke Van Dijck, Marzia Passeggeri, Frank Kooy, Jacques Puechberty, Carolyn Campbell, Damien Sanlaville, Henrietta Lefroy, Sonia Richetin, Aurelie Pain, David Geneviève, Usha Kini, Cédric Le Caignec, James Lespinasse, Anne-Bine Skytte, Bertrand Isidor, Christiane Zweier, Jean-Hubert Caberg, Marie-Ange Delrue, Rikke Steensbjerre Møller, Anders Bojesen, Helle Hjalgrim, Charlotte Brasch-Andersen, Emmanuelle Lemyre, Lilian Bomme Ousager, Sébastien Jacquemont, on behalf of 15q11.2 Working Group, Joris Andrieux, Angela Barnicoat, Patricia Blanchet, Sophie Blesson, Florence Niel Bütschi, Philippe M Campeau, Nora Chelloug, François-Guillaume Debray, Florence Fellmann, Alessandra Ferrarini, Richard Gibbons, Pernille Axel Gregersen, Juliane Hoyer, Ulrike Hüffmeier, Ditte Kjelgaard, Mandy Krumbiegel, Sébastien Lebon, Gaetan Lesca, Stéphanie Marignier, Sandra Mercier, Jacques Michaud, Grant Mitchell, Isabelle Mortemousque, Rikke S Møller, Mathilde Nizon, Genevieve Pierquin, Kristina Pilekær Sørensen, Sue Price, Pascal H Pujol, Vincent Ramaekers, Martine Raynaud, André Reis, Massimiliano Rossi, Pierre Sarda, Franco Stanzial, Helen Stewart, Dea Svaneby, Christian T Theil, Marianne Till, Yannis Trakadis, Dorothée Ville, Sandrine Vonwill, Andrew Wilkie, Antje Wiessner

10.1136/jmedgenet-2018-105879

August 26, 2019

Gastric polyposis and desmoid tumours as a new familial adenomatous polyposis clinical variant associated with APC mutation at the extreme 3′-end

Vittoria Disciglio, Candida Fasano, Filomena Cariola, Giovanna Forte, Valentina Grossi, Paola Sanese, Martina Lepore Signorile, Nicoletta Resta, Claudio Lotesoriere, Alessandro Stella, Ivan Lolli, Cristiano Simone

10.1136/jmedgenet-2019-106299

October 7, 2019

Molecular and clinical analyses of two patients with UPD(16)mat detected by screening 94 patients with Silver-Russell syndrome phenotype of unknown aetiology

Takanobu Inoue, Hideaki Yagasaki, Junko Nishioka, Akie Nakamura, Keiko Matsubara, Satoshi Narumi, Kazuhiko Nakabayashi, Kazuki Yamazawa, Tomoko Fuke, Akira Oka, Tsutomu Ogata, Maki Fukami, Masayo Kagami

10.1136/jmedgenet-2018-105463

September 21, 2018

Genetic factors contributing to autism spectrum disorder in Williams-Beuren syndrome

Marta Codina-Sola, Mar Costa-Roger, Debora Pérez-García, Raquel Flores, Maria Gabriela Palacios-Verdú, Ivon Cusco, Luis Alberto Pérez-Jurado

10.1136/jmedgenet-2019-106080

August 14, 2019

Reasons for and time to retraction of genetics articles published between 1970 and 2018

Rafael Dal-Ré, Carmen Ayuso

10.1136/jmedgenet-2019-106137

July 12, 2019

Prenatal ultrasound findings of rasopathies in a cohort of 424 fetuses: update on genetic testing in the NGS era

Kyra E Stuurman, Marieke Joosten, Ineke van der Burgt, Mariet Elting, Helger G Yntema, Hanne Meijers-Heijboer, Tuula Rinne

10.1136/jmedgenet-2018-105746

April 30, 2019

Editor's choice

Pharmacologic properties of high-dose ambroxol in four patients with Gaucher disease and myoclonic epilepsy

Yoon-Myung Kim, Mi-Sun Yum, Sun Hee Heo, Taeho Kim, Hee Kyung Jin, Jae-sung Bae, Go Hun Seo, Arum Oh, Hee Mang Yoon, Hyun Taek Lim, Hyo-Won Kim, Tae-Sung Ko, Hyeong‐Seok Lim, Mark J Osborn, Jakub Tolar, Claudia Cozma, Arndt Rolfs, Ari Zimran, Beom Hee Lee, Han-Wook Yoo

10.1136/jmedgenet-2019-106132

October 24, 2019