Dermatology

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
A founder mutation in Vps37A causes autosomal recessive complex hereditary spastic paraparesis
Yifat Zivony-Elboum, Wendy Westbroek, Nehama Kfir, David Savitzki, Yishay Shoval, Assnat Bloom, Raya Rod, Morad Khayat, Bella Gross, Walid Samri, Hector Cohen, Vadim Sonkin, Tatiana Freidman, Dan Geiger, Aviva Fattal-Valevski, Yair Anikster, Aoife M Waters, Robert Kleta, Tzipora C Falik-Zaccai

Journal of Medical Genetics Jul 2012, 49 (7) 462-472; DOI: 10.1136/jmedgenet-2012-100742
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
The twisting tale of woolly hair: a trait with many causes
Yuval Ramot, Abraham Zlotogorski

Journal of Medical Genetics Apr 2015, 52 (4) 217-223; DOI: 10.1136/jmedgenet-2014-102630
A new face of Borjeson–Forssman–Lehmann syndrome? De novo mutations in PHF6 in seven females with a distinct phenotype
Christiane Zweier, Cornelia Kraus, Louise Brueton, Trevor Cole, Franziska Degenhardt, Hartmut Engels, Gabriele Gillessen-Kaesbach, Luitgard Graul-Neumann, Denise Horn, Juliane Hoyer, Walter Just, Anita Rauch, André Reis, Bernd Wollnik, Michael Zeschnigk, Hermann-Josef Lüdecke, Dagmar Wieczorek

Journal of Medical Genetics Dec 2013, 50 (12) 838-847; DOI: 10.1136/jmedgenet-2013-101918
Wide spectrum of desmosomal mutations in Danish patients with arrhythmogenic right ventricular cardiomyopathy
A H Christensen, M Benn, H Bundgaard, A Tybjærg-Hansen, S Haunso, J H Svendsen

Journal of Medical Genetics Nov 2010, 47 (11) 736-744; DOI: 10.1136/jmg.2010.077891
Whole exome sequencing identifies LRP1 as a pathogenic gene in autosomal recessive keratosis pilaris atrophicans
Joakim Klar, Jens Schuster, Tahir Naeem Khan, Muhammad Jameel, Katrin Mäbert, Lars Forsberg, Shehla Anjum Baig, Shahid Mahmood Baig, Niklas Dahl

Journal of Medical Genetics Sep 2015, 52 (9) 599-606; DOI: 10.1136/jmedgenet-2014-102931
Congenital ichthyosis: mutations in ichthyin are associated with specific structural abnormalities in the granular layer of epidermis
J Dahlqvist, J Klar, I Hausser, I Anton-Lamprecht, M Hellström Pigg, T Gedde-Dahl, A Gånemo, A Vahlquist, N Dahl

Journal of Medical Genetics Oct 2007, 44 (10) 615-620; DOI: 10.1136/jmg.2007.050542
WAC loss-of-function mutations cause a recognisable syndrome characterised by dysmorphic features, developmental delay and hypotonia and recapitulate 10p11.23 microdeletion syndrome
Cori DeSanto, Kristin D'Aco, Gabriel C Araujo, Nora Shannon, DDD Study, Hilary Vernon, April Rahrig, Kristin G Monaghan, Zhiyv Niu, Patrik Vitazka, Jonathan Dodd, Sha Tang, Linda Manwaring, Arelis Martir-Negron, Rhonda E Schnur, Jane Juusola, Audrey Schroeder, Vivian Pan, Katherine L Helbig, Bethany Friedman, Marwan Shinawi

Journal of Medical Genetics Nov 2015, 52 (11) 754-761; DOI: 10.1136/jmedgenet-2015-103069
Germline RRAS2 mutations are not associated with Noonan syndrome
John J Ceremsak, Ariel Yu, Emilio Esquivel, Christina Lissewski, Martin Zenker, Mignon L Loh, Elliot Stieglitz

Journal of Medical Genetics Nov 2016, 53 (11) 728; DOI: 10.1136/jmedgenet-2016-103889

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