Journal of Medical Genetics: 54 (1)

Cardiovascular genetics

Original article: Survival and causes of death in patients with von Hippel-Lindau disease (18 August, 2016)
Marie Louise Mølgaard Binderup, Annette Møller Jensen, Esben Budtz-Jørgensen, Marie Luise Bisgaard

Original article:
Phenotypic spectrum of POLR3B mutations: isolated hypogonadotropic hypogonadism without neurological or dental anomalies
(10 August, 2016) Free
Mary R Richards, Lacey Plummer, Yee-Ming Chan, Margaret F Lippincott, Richard Quinton, Philip Kumanov, Stephanie B Seminara
Original article:
Amelogenesis imperfecta in familial hypomagnesaemia and hypercalciuria with nephrocalcinosis caused by CLDN19 gene mutations
(16 August, 2016)
Paulo Marcio Yamaguti, Francisco de Assis Rocha Neves, Dominique Hotton, Claire Bardet, Muriel de La Dure-Molla, Luiz Claudio Castro, Maria do Carmo Scher, Maristela Estevão Barbosa, Christophe Ditsch, Jean-Christophe Fricain, Renaud de La Faille, Marie-Lucile Figueres, Rosa Vargas-Poussou, Pascal Houiller, Catherine Chaussain, Sylvie Babajko, Ariane Berdal, Ana Carolina Acevedo

Original article: New insights into the genetic component of non-infectious uveitis through an Immunochip strategy (8 September, 2016)
Ana Márquez, Miguel Cordero-Coma, José Manuel Martín-Villa, Marina Begoña Gorroño-Echebarría, Ricardo Blanco, David Díaz Valle, María José del Rio, Ana Blanco, Jose Luis Olea, Yolanda Cordero, María José Capella, Manuel Díaz-Llopis, Norberto Ortego-Centeno, Ioana Ruiz-Arruza, Víctor Llorenç, Alfredo Adán, Alejandro Fonollosa, Josianne ten Berge, Denize Atan, Andrew D Dick, Joke H De Boer, Jonas Kuiper, Aniki Rothova, Javier Martín

Original article:
Congenital heart defects and left ventricular non-compaction in males with loss-of-function variants in NONO
(22 August, 2016)
Daryl A Scott, Andres Hernandez-Garcia, Mahshid S Azamian, Valerie K Jordan, Bum Jun Kim, Molly Starkovich, Jinglan Zhang, Lee-Jun Wong, Sandra A Darilek, Amy M Breman, Yaping Yang, James R Lupski, Amyn K Jiwani, Bibhuti Das, Seema R Lalani, Alejandro D Iglesias, Jill A Rosenfeld, Fan Xia
Original article:
SLC13A5 is the second gene associated with Kohlschütter–Tönz syndrome
(6 September, 2016)
Anna Schossig, Agnès Bloch-Zupan, Adrian Lussi, Nicole I Wolf, Salmo Raskin, Monika Cohen, Fabienne Giuliano, Julie Jurgens, Birgit Krabichler, David A Koolen, Nara Lygia de Macena Sobreira, Elisabeth Maurer, Michèle Muller-Bolla, Johann Penzien, Johannes Zschocke, Ines Kapferer-Seebacher
Original article:
FOXP2 variants in 14 individuals with developmental speech and language disorders broaden the mutational and clinical spectrum
(29 August, 2016)
Miriam S Reuter, Angelika Riess, Ute Moog, Tracy A Briggs, Kate E Chandler, Anita Rauch, Miriam Stampfer, Katharina Steindl, Dieter Gläser, Pascal Joset, DDD Study, Mandy Krumbiegel, Harald Rabe, Uta Schulte-Mattler, Peter Bauer, Stefanie Beck-Wödl, Jürgen Kohlhase, André Reis, Christiane Zweier