16p13.11 microduplication in 45 new patients: refined clinical significance and genotype–phenotype correlations

Laïla Allach El Khattabi, Solveig Heide, Jean-Hubert Caberg, Joris Andrieux, Martine Doco Fenzy, Caroline Vincent-Delorme, Patrick Callier, Sandra Chantot-Bastaraud, Alexandra Afenjar, Odile Boute-Benejean, Marie Pierre Cordier, Laurence Faivre, Christine Francannet, Marion Gerard, Alice Goldenberg, Alice Masurel-Paulet, Anne-Laure Mosca-Boidron, Nathalie Marle, Anne Moncla, Nathalie Le Meur, Michèle Mathieu-Dramard, Ghislaine Plessis, Gaetan Lesca, Massimiliano Rossi, Patrick Edery, Andrée Delahaye-Duriez, Loïc De Pontual, Anne Claude Tabet, Aziza Lebbar, Lesley Suiro, Christine Ioos, Abdelhafid Natiq, Siham Chafai Elalaoui, Chantal Missirian, Aline Receveur, Caroline François-Fiquet, Pascal Garnier, Catherine Yardin, Cécile Laroche, Philippe Vago, Damien Sanlaville, Jean Michel Dupont, Brigitte Benzacken, Eva Pipiras

10.1136/jmedgenet-2018-105389

October 4, 2018

Efficacy of novel immunotherapy regimens in patients with metastatic melanoma with germline CDKN2A mutations

Hildur Helgadottir, Paola Ghiorzo, Remco van Doorn, Susana Puig, Max Levin, Richard Kefford, Martin Lauss, Paola Queirolo, Lorenza Pastorino, Ellen Kapiteijn, Miriam Potrony, Cristina Carrera, Håkan Olsson, Veronica Höiom, Göran Jönsson

10.1136/jmedgenet-2018-105610

October 5, 2018

Multitrait genome association analysis identifies new susceptibility genes for human anthropometric variation in the GCAT cohort

Iván Galván-Femenía, Mireia Obón-Santacana, David Piñeyro, Marta Guindo-Martinez, Xavier Duran, Anna Carreras, Raquel Pluvinet, Juan Velasco, Laia Ramos, Susanna Aussó, J M Mercader, Lluis Puig, Manuel Perucho, David Torrents, Victor Moreno, Lauro Sumoy, Rafael de Cid

10.1136/jmedgenet-2018-105437

August 30, 2018

Editor's choice

Rapid Paediatric Sequencing (RaPS): comprehensive real-life workflow for rapid diagnosis of critically ill children

Lamia Mestek-Boukhibar, Emma Clement, Wendy D Jones, Suzanne Drury, Louise Ocaka, Andrey Gagunashvili, Polona Le Quesne Stabej, Chiara Bacchelli, Nital Jani, Shamima Rahman, Lucy Jenkins, Jane A Hurst, Maria Bitner-Glindzicz, Mark Peters, Philip L Beales, Hywel J Williams

10.1136/jmedgenet-2018-105396

July 26, 2018

Expanding the phenotype of COPA syndrome: a kindred with typical and atypical features

Angelo M Taveira-DaSilva, Thomas C Markello, David E Kleiner, Amanda M Jones, Catherine Groden, Ellen Macnamara, Tadafumi Yokoyama, William A Gahl, Bernadette R Gochuico, Joel Moss

10.1136/jmedgenet-2018-105560

November 1, 2018

Use of zebrafish models to investigate rare human disease

Kathryn Isabel Adamson, Eamonn Sheridan, Andrew James Grierson

10.1136/jmedgenet-2018-105358

July 31, 2018

Editor's choice

Consensus for genes to be included on cancer panel tests offered by UK genetics services: guidelines of the UK Cancer Genetics Group

Amy Taylor, Angela F Brady, Ian M Frayling, Helen Hanson, Marc Tischkowitz, Clare Turnbull, Lucy Side

10.1136/jmedgenet-2017-105188

April 16, 2018

Practice guideline: joint CCMG-SOGC recommendations for the use of chromosomal microarray analysis for prenatal diagnosis and assessment of fetal loss in Canada

Christine M Armour, Shelley Danielle Dougan, Jo-Ann Brock, Radha Chari, Bernie N Chodirker, Isabelle DeBie, Jane A Evans, William T Gibson, Elena Kolomietz, Tanya N Nelson, Frédérique Tihy, Mary Ann Thomas, Dimitri J Stavropoulos

10.1136/jmedgenet-2017-105013

March 1, 2018

Agalsidase alfa versus agalsidase beta for the treatment of Fabry disease: an international cohort study

Maarten Arends, Marieke Biegstraaten, Christoph Wanner, Sandra Sirrs, Atul Mehta, Perry M Elliott, Daniel Oder, Oliver T Watkinson, Daniel G Bichet, Aneal Khan, Mark Iwanochko, Frédéric M Vaz, André B P van Kuilenburg, Michael L West, Derralynn A Hughes, Carla E M Hollak

10.1136/jmedgenet-2017-104863

February 7, 2018

Genetic obesity: next-generation sequencing results of 1230 patients with obesity

Lotte Kleinendorst, Maarten P G Massink, Mellody I Cooiman, Mesut Savas, Olga H van der Baan-Slootweg, Roosje J Roelants, Ignace C M Janssen, Hanne J Meijers-Heijboer, Nine V A M Knoers, Hans Kristian Ploos van Amstel, Elisabeth F C van Rossum, Erica L T van den Akker, Gijs van Haaften, Bert van der Zwaag, Mieke M van Haelst, F J Berends, E O Aarts, S Bouma-de Jongh, I Von Rosenstiel, E G A H van mil, C J De Groot, H E Veenstra-knol, J B G m verheij, K E Stuurman, V L Wester, Y M C hendriks, M Bakker

10.1136/jmedgenet-2018-105315

July 3, 2018

Editor's choice