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

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

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

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

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

Biallelic mutations in CFAP65 lead to severe asthenoteratospermia due to acrosome hypoplasia and flagellum malformations

Weili Wang, Chaofeng Tu, Hongchuan Nie, Lanlan Meng, Yong Li, Shimin Yuan, Qianjun Zhang, Juan Du, Junpu Wang, Fei Gong, Liqing Fan, Guang-Xiu Lu, Ge Lin, Yue-Qiu Tan

10.1136/jmedgenet-2019-106031

August 14, 2019

Whole genome paired-end sequencing elucidates functional and phenotypic consequences of balanced chromosomal rearrangement in patients with developmental disorders

Caroline Schluth-Bolard, Flavie Diguet, Nicolas Chatron, Pierre-Antoine Rollat-Farnier, Claire Bardel, Alexandra Afenjar, Florence Amblard, Jeanne Amiel, Sophie Blesson, Patrick Callier, Yline Capri, Patrick Collignon, Marie-Pierre Cordier, Christine Coubes, Benedicte Demeer, Annabelle Chaussenot, Florence Demurger, Françoise Devillard, Martine Doco-Fenzy, Céline Dupont, Jean-Michel Dupont, Sophie Dupuis-Girod, Laurence Faivre, Brigitte Gilbert-Dussardier, Anne-Marie Guerrot, Marine Houlier, Bertrand Isidor, Sylvie Jaillard, Géraldine Joly-Hélas, Valérie Kremer, Didier Lacombe, Cédric Le Caignec, Aziza Lebbar, Marine Lebrun, Gaetan Lesca, James Lespinasse, Jonathan Levy, Valérie Malan, Michele Mathieu-Dramard, Julie Masson, Alice Masurel-Paulet, Cyril Mignot, Chantal Missirian, Fanny Morice-Picard, Sébastien Moutton, Gwenaël Nadeau, Céline Pebrel-Richard, Sylvie Odent, Véronique Paquis-Flucklinger, Laurent Pasquier, Nicole Philip, Morgane Plutino, Linda Pons, Marie-France Portnoï, Fabienne Prieur, Jacques Puechberty, Audrey Putoux, Marlène Rio, Caroline Rooryck-Thambo, Massimiliano Rossi, Catherine Sarret, Véronique Satre, Jean-Pierre Siffroi, Marianne Till, Renaud Touraine, Annick Toutain, Jérome Toutain, Stéphanie Valence, Alain Verloes, Sandra Whalen, Patrick Edery, Anne-Claude Tabet, Damien Sanlaville

10.1136/jmedgenet-2018-105778

March 28, 2019

Editor's choice

Genome-wide association study identifies seven novel loci associating with circulating cytokines and cell adhesion molecules in Finns

Eeva Sliz, Marita Kalaoja, Ari Ahola-Olli, Olli Raitakari, Markus Perola, Veikko Salomaa, Terho Lehtimäki, Toni Karhu, Heimo Viinamäki, Marko Salmi, Kristiina Santalahti, Sirpa Jalkanen, Jari Jokelainen, Sirkka Keinänen-Kiukaanniemi, Minna Männikkö, Karl-Heinz Herzig, Marjo-Riitta Järvelin, Sylvain Sebert, Johannes Kettunen

10.1136/jmedgenet-2018-105965

June 19, 2019

Genetic T-type calcium channelopathies

Norbert Weiss, Gerald W Zamponi

10.1136/jmedgenet-2019-106163

June 19, 2019

Long-read sequencing and haplotype linkage analysis enabled preimplantation genetic testing for patients carrying pathogenic inversions

Shuo Zhang, Fan Liang, Caixia Lei, Junping Wu, Jing Fu, Qi Yang, Xiao Luo, Guoliang Yu, Depeng Wang, Yueping Zhang, Daru Lu, Xiaoxi Sun, Yu Liang, Congjian Xu

10.1136/jmedgenet-2018-105976

August 22, 2019