Genetics

ACBD5 deficiency causes a defect in peroxisomal very long-chain fatty acid metabolism
Sacha Ferdinandusse, Kim D Falkenberg, Janet Koster, Petra A Mooyer, Richard Jones, Carlo W T van Roermund, Amy Pizzino, Michael Schrader, Ronald J A Wanders, Adeline Vanderver, Hans R Waterham

Journal of Medical Genetics May 2017, 54 (5) 330-337; DOI: 10.1136/jmedgenet-2016-104132
A germline mutation in PBRM1 predisposes to renal cell carcinoma
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

Journal of Medical Genetics Jun 2015, 52 (6) 426-430; DOI: 10.1136/jmedgenet-2014-102912
Genotype–phenotype correlation and functional studies in patients with cystic fibrosis bearing CFTR complex alleles
Vito Terlizzi, Giuseppe Castaldo, Donatello Salvatore, Marco Lucarelli, Valeria Raia, Adriano Angioni, Vincenzo Carnovale, Natalia Cirilli, Rosaria Casciaro, Carla Colombo, Antonella Miriam Di Lullo, Ausilia Elce, Paola Iacotucci, Marika Comegna, Manuela Scorza, Vincenzina Lucidi, Anna Perfetti, Roberta Cimino, Serena Quattrucci, Manuela Seia, Valentina Maria Sofia, Federica Zarrilli, Felice Amato

Journal of Medical Genetics Apr 2017, 54 (4) 224-235; DOI: 10.1136/jmedgenet-2016-103985
Diagnostic value of exome and whole genome sequencing in craniosynostosis
Kerry A Miller, Stephen R F Twigg, Simon J McGowan, Julie M Phipps, Aimée L Fenwick, David Johnson, Steven A Wall, Peter Noons, Katie E M Rees, Elizabeth A Tidey, Judith Craft, John Taylor, Jenny C Taylor, Jacqueline A C Goos, Sigrid M A Swagemakers, Irene M J Mathijssen, Peter J van der Spek, Helen Lord, Tracy Lester, Noina Abid, Deirdre Cilliers, Jane A Hurst, Jenny E V Morton, Elizabeth Sweeney, Astrid Weber, Louise C Wilson, Andrew O M Wilkie

Journal of Medical Genetics Apr 2017, 54 (4) 260-268; DOI: 10.1136/jmedgenet-2016-104215
AMMECR1: a single point mutation causes developmental delay, midface hypoplasia and elliptocytosis
Gaia Andreoletti, Eleanor G Seaby, Jennifer M Dewing, Ita O'Kelly, Katherine Lachlan, Rodney D Gilbert, Sarah Ennis

Journal of Medical Genetics Apr 2017, 54 (4) 269-277; DOI: 10.1136/jmedgenet-2016-104100
Mitochondrial DNA polymerase γ mutations: an ever expanding molecular and clinical spectrum
Sha Tang, Jing Wang, Ni-Chung Lee, Margherita Milone, Michelle C Halberg, Eric S Schmitt, William J Craigen, Wei Zhang, Lee-Jun C Wong

Journal of Medical Genetics Oct 2011, 48 (10) 669-681; DOI: 10.1136/jmedgenet-2011-100222
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
Elena Parrini, Davide Mei, Maria Antonietta Pisanti, Serena Catarzi, Daniela Pucatti, Claudia Bianchini, Mario Mascalchi, Enrico Bertini, Amelia Morrone, Maria Luigia Cavaliere, Renzo Guerrini

Journal of Medical Genetics Jun 2015, 52 (6) 405-412; DOI: 10.1136/jmedgenet-2014-102959
A novel TRAPPC11 mutation in two Turkish families associated with cerebral atrophy, global retardation, scoliosis, achalasia and alacrima
Katrin Koehler, Miroslav P. Milev, Keshika Prematilake, Felix Reschke, Susann Kutzner, Ramona Jühlen, Dana Landgraf, Eda Utine, Filiz Hazan, Gulden Diniz, Markus Schuelke, Angela Huebner, Michael Sacher

Journal of Medical Genetics Mar 2017, 54 (3) 176-185; DOI: 10.1136/jmedgenet-2016-104108
CEP78 is mutated in a distinct type of Usher syndrome
Qing Fu, Mingchu Xu, Xue Chen, Xunlun Sheng, Zhisheng Yuan, Yani Liu, Huajin Li, Zixi Sun, Huiping Li, Lizhu Yang, Keqing Wang, Fangxia Zhang, Yumei Li, Chen Zhao, Ruifang Sui, Rui Chen

Journal of Medical Genetics Mar 2017, 54 (3) 190-195; DOI: 10.1136/jmedgenet-2016-104166
Mutations in the phosphatidylinositol glycan C (PIGC) gene are associated with epilepsy and intellectual disability
Simon Edvardson, Yoshiko Murakami, Thi Tuyet Mai Nguyen, Maher Shahrour, Anik St-Denis, Avraham Shaag, Nadira Damseh, Françoise Le Deist, Yenan Bryceson, Bassam Abu-Libdeh, Philippe M Campeau, Taroh Kinoshita, Orly Elpeleg

Journal of Medical Genetics Mar 2017, 54 (3) 196-201; DOI: 10.1136/jmedgenet-2016-104202

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