Special collections

Special collections

Advances in genetic technologies result in improved diagnosis of mismatch repair deficiency in colorectal and endometrial cancers
D Gareth Evans, Fiona Lalloo, Neil AJ Ryan, Naomi Bowers, Kate Green, Emma R Woodward, Tara Clancy, James Bolton, Rhona J McVey, Andrew J Wallace, Katy Newton, James Hill, Raymond McMahon, Emma J Crosbie

Journal of Medical Genetics Jan 2021, jmedgenet-2020-107542; DOI: 10.1136/jmedgenet-2020-107542
Unexpected role of SIX1 variants in craniosynostosis: expanding the phenotype of SIX1-related disorders
Eduardo Calpena, Maud Wurmser, Simon J McGowan, Rodrigo Atique, Débora R Bertola, Michael L Cunningham, Jonas A Gustafson, David Johnson, Jenny E V Morton, Maria Rita Passos-Bueno, Andrew T Timberlake, Richard P Lifton, Steven A Wall, Stephen R F Twigg, Pascal Maire, Andrew O M Wilkie

Journal of Medical Genetics Jan 2021, jmedgenet-2020-107459; DOI: 10.1136/jmedgenet-2020-107459
Deep exploration of a CDKN1C mutation causing a mixture of Beckwith-Wiedemann and IMAGe syndromes revealed a novel transcript associated with developmental delay
Siren Berland, Bjørn Ivar Haukanes, Petur Benedikt Juliusson, Gunnar Houge

Journal of Medical Genetics Dec 2020, jmedgenet-2020-107401; DOI: 10.1136/jmedgenet-2020-107401
CRISPR–Cas9/long-read sequencing approach to identify cryptic mutations in BRCA1 and other tumour suppressor genes
Tom Walsh, Silvia Casadei, Katherine M Munson, Mary Eng, Jessica B Mandell, Suleyman Gulsuner, Mary-Claire King

Journal of Medical Genetics Oct 2020, jmedgenet-2020-107320; DOI: 10.1136/jmedgenet-2020-107320
Redefinition of familial intestinal gastric cancer: clinical and genetic perspectives
Joana Carvalho, Patricia Oliveira, Janine Senz, Celina São José, Samantha Hansford, Sara Pinto Teles, Marta Ferreira, Giovanni Corso, Hugo Pinheiro, Diana Lemos, Valeria Pascale, Franco Roviello, David Huntsman, Carla Oliveira

Journal of Medical Genetics Jan 2021, 58 (1) 1-11; DOI: 10.1136/jmedgenet-2019-106346
Defining the phenotypical spectrum associated with variants in TUBB2A
Stefanie Brock, Tim Vanderhasselt, Sietske Vermaning, Kathelijn Keymolen, Luc Régal, Romina Romaniello, Dagmar Wieczorek, Tim Matthias Storm, Karin Schaeferhoff, Ute Hehr, Alma Kuechler, Ingeborg Krägeloh-Mann, Tobias B Haack, Esmee Kasteleijn, Rachel Schot, Grazia Maria Simonetta Mancini, Richard Webster, Shekeeb Mohammad, Richard J Leventer, Ghayda Mirzaa, William B Dobyns, Nadia Bahi-Buisson, Marije Meuwissen, Anna C Jansen, Katrien Stouffs

Journal of Medical Genetics Jan 2021, 58 (1) 33-40; DOI: 10.1136/jmedgenet-2019-106740
Sensitivity and specificity of loss of heterozygosity analysis for the classification of rare germline variants in BRCA1/2: results of the observational AGO-TR1 study (NCT02222883)
Jan Hauke, Philipp Harter, Corinna Ernst, Alexander Burges, Sandra Schmidt, Alexander Reuss, Julika Borde, Nikolaus De Gregorio, Dimo Dietrich, Ahmed El-Balat, Mohamad Kayali, Heidrun Gevensleben, Felix Hilpert, Janine Altmüller, André Heimbach, Werner Meier, Birgid Schoemig-Markiefka, Holger Thiele, Rainer Kimmig, Peter Nürnberg, Karin Kast, Lisa Richters, Jalid Sehouli, Rita K Schmutzler, Eric Hahnen

Journal of Medical Genetics Dec 2020, jmedgenet-2020-107353; DOI: 10.1136/jmedgenet-2020-107353
Linkage analysis identifies an isolated strabismus locus at 14q12 overlapping with FOXG1 syndrome region
Xin (Cynthia) Ye, Nicole M Roslin, Andrew D Paterson, Christopher J Lyons, Victor Pegado, Phillip Richmond, Casper Shyr, Oriol Fornes, XiaoHua Han, Michelle Higginson, Colin J Ross, Deborah Giaschi, Cheryl Gregory-Evans, Millan S Patel, Wyeth W Wasserman

Journal of Medical Genetics Nov 2020, jmedgenet-2020-107226; DOI: 10.1136/jmedgenet-2020-107226
De novo mutations of SCN1A are responsible for arthrogryposis broadening the SCN1A-related phenotypes
Dana Jaber, Cyril Gitiaux, Sophie Blesson, Florent Marguet, David Buard, Maritzaida Varela Salgado, Anna Kaminska, Julien Saada, Catherine Fallet-Bianco, Jelena Martinovic, Annie Laquerriere, Judith Melki

Journal of Medical Genetics Sep 2020, jmedgenet-2020-107166; DOI: 10.1136/jmedgenet-2020-107166
‘Kinesinopathies’: emerging role of the kinesin family member genes in birth defects
Silvia Kalantari, Isabel Filges

Journal of Medical Genetics Dec 2020, 57 (12) 797-807; DOI: 10.1136/jmedgenet-2019-106769

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