Journal of Medical Genetics: 52 (3)

Cancer genetics

Communications:
Transmission of germline TP53 mutations from male carriers to female partners
(22 January, 2015)
Sophie Patrier-Sallebert, Gaëlle Bougeard, Stéphanie Baert-Desurmont, Aude Lamy, Jean-Michel Flaman, Ludovic Mansuy, Myriam Bronner, Christine Lasset, Laurence Brugières, François Golfier, Thierry Frebourg

Original article:
The kinetochore protein, CENPF, is mutated in human ciliopathy and microcephaly phenotypes
(6 January, 2015)
Aoife M Waters, Rowan Asfahani, Paula Carroll, Louise Bicknell, Francesco Lescai, Alison Bright, Estelle Chanudet, Anthony Brooks, Sonja Christou-Savina, Guled Osman, Patrick Walsh, Chiara Bacchelli, Ariane Chapgier, Bertrand Vernay, David M Bader, Charu Deshpande, Mary O’ Sullivan, Louise Ocaka, Horia Stanescu, Helen S Stewart, Friedhelm Hildebrandt, Edgar Otto, Colin A Johnson, Katarzyna Szymanska, Nicholas Katsanis, Erica Davis, Robert Kleta, Mike Hubank, Stephen Doxsey, Andrew Jackson, Elia Stupka, Mark Winey, Philip L Beales

Original article:
DCAF4, a novel gene associated with leucocyte telomere length
(26 January, 2015)
Massimo Mangino, Lene Christiansen, Rivka Stone, Steven C Hunt, Kent Horvath, Dan T A Eisenberg, Masayuki Kimura, Inge Petersen, Jeremy D Kark, Utz Herbig, Alex P Reiner, Athanase Benetos, Veryan Codd, Dale R Nyholt, Ronit Sinnreich, Kaare Christensen, Hisham Nassar, Shih-Jen Hwang, Daniel Levy, Veronique Bataille, Annette L Fitzpatrick, Wei Chen, Gerald S Berenson, Nilesh J Samani, Nicholas G Martin, Sarah Tishkoff, Nicholas J Schork, Kirsten Ohm Kyvik, Christine Dalgård, Timothy D Spector, Abraham Aviv

Original article: Evidence of digenic inheritance in Alport syndrome (9 January, 2015)
Maria Antonietta Mencarelli, Laurence Heidet, Helen Storey, Michel van Geel, Bertrand Knebelmann, Chiara Fallerini, Nunzia Miglietti, Maria Fatima Antonucci, Francesco Cetta, John A Sayer, Arthur van den Wijngaard, Shu Yau, Francesca Mari, Mirella Bruttini, Francesca Ariani, Karin Dahan, Bert Smeets, Corinne Antignac, Frances Flinter, Alessandra Renieri
Original article:
Mapping the functional landscape of frequent phenylalanine hydroxylase (PAH) genotypes promotes personalised medicine in phenylketonuria
(16 January, 2015)
Marta K Danecka, Mathias Woidy, Johannes Zschocke, François Feillet, Ania C Muntau, Søren W Gersting

Original article:
ISCA2 mutation causes infantile neurodegenerative mitochondrial disorder
(24 December, 2014)
Zuhair N Al-Hassnan, Mazhor Al-Dosary, Majid Alfadhel, Eissa A Faqeih, Maysoon Alsagob, Rosan Kenana, Rawan Almass, Olfat S Al-Harazi, Hindi Al-Hindi, Omhani I Malibari, Faten B Almutari, Sahar Tulbah, Faten Alhadeq, Tarfa Al-Sheddi, Rana Alamro, Ali AlAsmari, Makki Almuntashri, Hesham Alshaalan, Futwan A Al-Mohanna, Dilek Colak, Namik Kaya
Original article:
MuSK: a new target for lethal fetal akinesia deformation sequence (FADS)
(22 January, 2015)
Maria Wilbe, Sara Ekvall, Karin Eurenius, Katharina Ericson, Olivera Casar-Borota, Joakim Klar, Niklas Dahl, Adam Ameur, Göran Annerén, Marie-Louise Bondeson

Mutations in COA3 cause isolated complex IV deficiency associated with neuropathy, exercise intolerance, obesity, and short stature
(20 January, 2015)
Elsebet Ostergaard, Woranontee Weraarpachai, Kirstine Ravn, Alfred Peter Born, Lars Jønson, Morten Duno, Flemming Wibrand, Eric A Shoubridge, John Vissing

Original article: Utility of next generation sequencing in genetic diagnosis of early onset neuromuscular disorders (29 January, 2015) Free
Jong Hee Chae, Valeria Vasta, Anna Cho, Byung Chan Lim, Qing Zhang, So Hee Eun, Si Houn Hahn