Immunology (including allergy)

Whole exome sequencing identifies a splicing mutation in NSUN2 as a cause of a Dubowitz-like syndrome
Fernando Jose Martinez, Jeong Ho Lee, Ji Eun Lee, Sandra Blanco, Elizabeth Nickerson, Stacey Gabriel, Michaela Frye, Lihadh Al-Gazali, Joseph G Gleeson

Journal of Medical Genetics Jun 2012, 49 (6) 380-385; DOI: 10.1136/jmedgenet-2011-100686
COLD-PCR and microarray: two independent highly sensitive approaches allowing the identification of fetal paternally inherited mutations in maternal plasma
Silvia Galbiati, Alessandra Monguzzi, Francesco Damin, Nadia Soriani, Marianna Passiu, Carlo Castellani, Federica Natacci, Cristina Curcio, Manuela Seia, Faustina Lalatta, Marcella Chiari, Maurizio Ferrari, Laura Cremonesi

Journal of Medical Genetics Jul 2016, 53 (7) 481-487; DOI: 10.1136/jmedgenet-2015-103229
Fatal infantile mitochondrial encephalomyopathy, hypertrophic cardiomyopathy and optic atrophy associated with a homozygous OPA1 mutation
Ronen Spiegel, Ann Saada, Padraig J Flannery, Florence Burté, Devorah Soiferman, Morad Khayat, Verónica Eisner, Eugene Vladovski, Robert W Taylor, Laurence A Bindoff, Avraham Shaag, Hanna Mandel, Ora Schuler-Furman, Stavit A Shalev, Orly Elpeleg, Patrick Yu-Wai-Man

Journal of Medical Genetics Feb 2016, 53 (2) 127-131; DOI: 10.1136/jmedgenet-2015-103361
Skewed X-inactivation patterns in ageing healthy and myelodysplastic haematopoiesis determined by a pyrosequencing based transcriptional clonality assay
Maximilian Mossner, Florian Nolte, Gero Hütter, Jana Reins, Marion Klaumünzer, Verena Nowak, Julia Obländer, Katrin Ackermann, Silke Will, Henning Röhl, Uwe Neumann, Martin Neumann, Olaf Hopfer, Claudia D Baldus, Wolf-Karsten Hofmann, Daniel Nowak

Journal of Medical Genetics Feb 2013, 50 (2) 108-117; DOI: 10.1136/jmedgenet-2012-101093
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
Depletion of mitochondrial DNA in leucocytes harbouring the 3243A→G mtDNA mutation
Angela Pyle, Robert W Taylor, Steve E Durham, Marcus Deschauer, Andrew M Schaefer, David C Samuels, Patrick F Chinnery

Journal of Medical Genetics Jan 2007, 44 (1) 69-74; DOI: 10.1136/jmg.2006.043109
Ten-year outcome of enzyme replacement therapy with agalsidase beta in patients with Fabry disease
Dominique P Germain, Joel Charrow, Robert J Desnick, Nathalie Guffon, Judy Kempf, Robin H Lachmann, Roberta Lemay, Gabor E Linthorst, Seymour Packman, C Ronald Scott, Stephen Waldek, David G Warnock, Neal J Weinreb, William R Wilcox

Journal of Medical Genetics May 2015, 52 (5) 353-358; DOI: 10.1136/jmedgenet-2014-102797
Genetic associations of the interleukin locus at 1q32.1 with clinical outcomes of cutaneous melanoma
Justin Rendleman, Matjaz Vogelsang, Anuj Bapodra, Christina Adaniel, Ines Silva, Duane Moogk, Carlos N Martinez, Nathaniel Fleming, Jerry Shields, Richard Shapiro, Russell Berman, Anna Pavlick, David Polsky, Yongzhao Shao, Iman Osman, Michelle Krogsgaard, Tomas Kirchhoff

Journal of Medical Genetics Apr 2015, 52 (4) 231-239; DOI: 10.1136/jmedgenet-2014-102832
Complementation of hypersensitivity to DNA interstrand crosslinking agents demonstrates that XRCC2 is a Fanconi anaemia gene
Jung-Young Park, Elizabeth L Virts, Anna Jankowska, Constanze Wiek, Mohamed Othman, Sujata C Chakraborty, Gail H Vance, Fowzan S Alkuraya, Helmut Hanenberg, Paul R Andreassen

Journal of Medical Genetics Oct 2016, 53 (10) 672-680; DOI: 10.1136/jmedgenet-2016-103847
Deficiency of HTRA2/Omi is associated with infantile neurodegeneration and 3-methylglutaconic aciduria
Hanna Mandel, Shotaro Saita, Simon Edvardson, Chaim Jalas, Avraham Shaag, Dorit Goldsher, Euvgeni Vlodavsky, Thomas Langer, Orly Elpeleg

Journal of Medical Genetics Oct 2016, 53 (10) 690-696; DOI: 10.1136/jmedgenet-2016-103922

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