Diagnostics tests

Exome and genome sequencing in adults with undiagnosed disease: a prospective cohort study
Salma Shickh, Mariana Gutierrez Salazar, Kathleen-Rose Zakoor, Conxi Lázaro, Jessica Gu, Jamie Goltz, Dakota Kleinman, Abdul Noor, Sam Khalouei, Chloe Mighton, Emma Reble, Rita Kodida, Yvonne Bombard, Stephanie DiTroia, Samantha Baxter, Nicholas Watkins, Melanie Care, Arnon Adler, Sheri Horsburgh, Oana Morar, Jillian Murphy, Dayna-Lynn Nevay, Marta Szybowska, Melyssa Aronson, Seema Panchal, Ruth Godoy, Spring Holter, Susan Randall Armel, Kara Semotiuk, Christine Elser, Raymond H Kim, David Chitayat, Joyce So, Hanna Faghfoury, Josh Silver, Chantal F Morel, Jordan Lerner-Ellis

Journal of Medical Genetics Apr 2021, 58 (4) 275-283; DOI: 10.1136/jmedgenet-2020-106936
Detecting mosaic variants in patients with somatic overgrowth syndromes using cell-free circulating DNA and deep sequencing
Wei Shen, Josue Flores-Daboub, Dave Viskochil, Sarah L. Dugan, Hunter D. Best, Rong Mao

Journal of Medical Genetics Nov 2020, 57 (11) 794-796; DOI: 10.1136/jmedgenet-2019-106732
Genetics of neuromuscular fetal akinesia in the genomics era
Sarah Jane Beecroft, Marcus Lombard, David Mowat, Catriona McLean, Anita Cairns, Mark Davis, Nigel G Laing, Gianina Ravenscroft

Journal of Medical Genetics Aug 2018, 55 (8) 505-514; DOI: 10.1136/jmedgenet-2018-105266
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

Journal of Medical Genetics Sep 2018, 55 (9) 578-586; DOI: 10.1136/jmedgenet-2018-105315
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

Journal of Medical Genetics Jun 2018, 55 (6) 372-377; DOI: 10.1136/jmedgenet-2017-105188
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
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

Journal of Medical Genetics Dec 2019, 56 (12) 792-800; DOI: 10.1136/jmedgenet-2019-106152
Progression from islet autoimmunity to clinical type 1 diabetes is influenced by genetic factors: results from the prospective TEDDY study
Andreas Beyerlein, Ezio Bonifacio, Kendra Vehik, Markus Hippich, Christiane Winkler, Brigitte I Frohnert, Andrea K Steck, William A Hagopian, Jeffrey P Krischer, Åke Lernmark, Marian J Rewers, Jin-Xiong She, Jorma Toppari, Beena Akolkar, Stephen S Rich, Anette-G Ziegler

Journal of Medical Genetics Sep 2019, 56 (9) 602-605; DOI: 10.1136/jmedgenet-2018-105532
Leveraging the power of new molecular technologies in the clinical setting requires unprecedented awareness of limitations and drawbacks: experience of one diagnostic laboratory
Landry Nfonsam, Shelley Ordorica, Mahdi Ghani, Ryan Potter, Audrey Schaffer, Hussein Daoud, Nasim Vasli, Caitlin Chisholm, Elizabeth Sinclair-Bourque, Jean McGowan-Jordan, Amanda C Smith, Olga Jarinova, Lucas Bronicki

Journal of Medical Genetics Jun 2019, 56 (6) 408-412; DOI: 10.1136/jmedgenet-2018-105443
Preimplantation genetic diagnosis in mitochondrial DNA disorders: challenge and success
Suzanne C E H Sallevelt, Joseph C F M Dreesen, Marion Drüsedau, Sabine Spierts, Edith Coonen, Florence H J van Tienen, Ronald J T van Golde, Irineus F M de Coo, Joep P M Geraedts, Christine E M de Die-Smulders, Hubert J M Smeets

Journal of Medical Genetics Feb 2013, 50 (2) 125-132; DOI: 10.1136/jmedgenet-2012-101172

Main menu

Diagnostics tests

Pages

Log in using your username and password

Main menu

Log in using your username and password

You are here

Diagnostics tests

Pages