Journal of Medical Genetics: 52 (6)

Review

Hereditary diffuse gastric cancer: updated clinical guidelines with an emphasis on germline CDH1 mutation carriers
(15 May, 2015)
Rachel S van der Post, Ingrid P Vogelaar, Fátima Carneiro, Parry Guilford, David Huntsman, Nicoline Hoogerbrugge, Carlos Caldas, Karen E Chelcun Schreiber, Richard H Hardwick, Margreet G E M Ausems, Linda Bardram, Patrick R Benusiglio, Tanya M Bisseling, Vanessa Blair, Eveline Bleiker, Alex Boussioutas, Annemieke Cats, Daniel Coit, Lynn DeGregorio, Joana Figueiredo, James M Ford, Esther Heijkoop, Rosella Hermens, Bostjan Humar, Pardeep Kaurah, Gisella Keller, Jennifer Lai, Marjolijn J L Ligtenberg, Maria O'Donovan, Carla Oliveira, Hugo Pinheiro, Krish Ragunath, Esther Rasenberg, Susan Richardson, Franco Roviello, Hans Schackert, Raquel Seruca, Amy Taylor, Anouk ter Huurne, Marc Tischkowitz, Sheena Tjon A Joe, Benjamin van Dijck, Nicole C T van Grieken, Richard van Hillegersberg, Johanna W van Sandick, Rianne Vehof, J Han van Krieken, Rebecca C Fitzgerald

Original article:
Nonsense mutation in the WDR73 gene is associated with Galloway-Mowat syndrome
(14 April, 2015)
Tawfeg Ben-Omran, Somayyeh Fahiminiya, Natalie Sorfazlian, Mariam Almuriekhi, Zafar Nawaz, Javad Nadaf, Kitam Abu Khadija, Samiha Zaineddin, Hussein Kamel, Jacek Majewski, Vincent Tropepe
Original article: Minichromosome maintenance complex component 8 (MCM8) gene mutations result in primary gonadal failure (14 April, 2015)
Yardena Tenenbaum-Rakover, Ariella Weinberg-Shukron, Paul Renbaum, Orit Lobel, Hasan Eideh, Suleyman Gulsuner, Dvir Dahary, Amal Abu-Rayyan, Moien Kanaan, Ephrat Levy-Lahad, Dani Bercovich, David Zangen

Original article:
Familial periventricular nodular heterotopia, epilepsy and Melnick–Needles Syndrome caused by a single FLNA mutation with combined gain-of-function and loss-of-function effects
(9 March, 2015)
Elena Parrini, Davide Mei, Maria Antonietta Pisanti, Serena Catarzi, Daniela Pucatti, Claudia Bianchini, Mario Mascalchi, Enrico Bertini, Amelia Morrone, Maria Luigia Cavaliere, Renzo Guerrini
Original article:
Rare variants in SOS2 and LZTR1 are associated with Noonan syndrome
(20 March, 2015) Free
Guilherme Lopes Yamamoto, Meire Aguena, Monika Gos, Christina Hung, Jacek Pilch, Somayyeh Fahiminiya, Anna Abramowicz, Ingrid Cristian, Michelle Buscarilli, Michel Satya Naslavsky, Alexsandra C Malaquias, Mayana Zatz, Olaf Bodamer, Jacek Majewski, Alexander A L Jorge, Alexandre C Pereira, Chong Ae Kim, Maria Rita Passos-Bueno, Débora Romeo Bertola

Short report: Bilateral vestibular schwannomas in older patients: NF2 or chance? (27 February, 2015)
D G Evans, S Freeman, C Gokhale, A Wallace, S K Lloyd, P Axon, C L Ward, S Rutherford, A King, S M Huson, R T Ramsden
Short report:
A germline mutation in PBRM1 predisposes to renal cell carcinoma
(24 April, 2015)
Patrick R Benusiglio, Sophie Couvé, Brigitte Gilbert-Dussardier, Sophie Deveaux, Hélène Le Jeune, Mélanie Da Costa, Gaëlle Fromont, Françoise Memeteau, Mokrane Yacoub, Isabelle Coupier, Dominique Leroux, Arnaud Méjean, Bernard Escudier, Sophie Giraud, Anne-Paule Gimenez-Roqueplo, Christophe Blondel, Eric Frouin, Bin T Teh, Sophie Ferlicot, Brigitte Bressac-de Paillerets, Stéphane Richard, Sophie Gad