Journal of Medical Genetics: 52 (9)

Diagnostics

Original article: Improving diagnostic precision, care and syndrome definitions using comprehensive next-generation sequencing for the inherited bone marrow failure syndromes (1 July, 2015) Free
Ibrahim Ghemlas, Hongbing Li, Bozana Zlateska, Robert Klaassen, Conrad V Fernandez, Rochelle A Yanofsky, John Wu, Yves Pastore, Mariana Silva, Jeff H Lipton, Josee Brossard, Bruno Michon, Sharon Abish, MacGregor Steele, Roona Sinha, Mark Belletrutti, Vicky R Breakey, Lawrence Jardine, Lisa Goodyear, Lillian Sung, Santhosh Dhanraj, Emma Reble, Amanda Wagner, Joseph Beyene, Peter Ray, Stephen Meyn, Michaela Cada, Yigal Dror
Communications: Prenatal genomic microarray and sequencing in Canadian medical practice: towards consensus (3 June, 2015)
Janet A Buchanan, David Chitayat, Elena Kolomietz, Hin C Lee, Stephen W Scherer, Marsha D Speevak, Hana Sroka, Dimitri J Stavropoulos

Original article: Haplotype-based approach to known MS-associated regions increases the amount of explained risk (16 July, 2015)
Pouya Khankhanian, Pierre-Antoine Gourraud, Antoine Lizee, Douglas S Goodin
Short report:
Contribution of the low-frequency, loss-of-function p.R270H mutation in FFAR4 (GPR120) to increased fasting plasma glucose levels
(29 May, 2015)
Amélie Bonnefond, Amel Lamri, Audrey Leloire, Emmanuel Vaillant, Ronan Roussel, Claire Lévy-Marchal, Jacques Weill, Pilar Galan, Serge Hercberg, Stéphanie Ragot, Samy Hadjadj, Guillaume Charpentier, Beverley Balkau, Michel Marre, Frédéric Fumeron, Philippe Froguel

Original article:
Whole exome sequencing identifies LRP1 as a pathogenic gene in autosomal recessive keratosis pilaris atrophicans
(3 July, 2015)
Joakim Klar, Jens Schuster, Tahir Naeem Khan, Muhammad Jameel, Katrin Mäbert, Lars Forsberg, Shehla Anjum Baig, Shahid Mahmood Baig, Niklas Dahl
Short report:
Recessive DEAF1 mutation associates with autism, intellectual disability, basal ganglia dysfunction and epilepsy
(5 June, 2015)
Anna Rajab, Markus Schuelke, Esther Gill, Angelika Zwirner, Franziska Seifert, Susanne Morales Gonzalez, Ellen Knierim
Short report:
Continued lessons from the INS gene: an intronic mutation causing diabetes through a novel mechanism
(22 June, 2015)
David Carmody, Soo-Young Park, Honggang Ye, Marie E Perrone, G Alkorta-Aranburu, Heather M Highland, Craig L Hanis, Louis H Philipson, Graeme I Bell, Siri Atma W Greeley

Original article:
A CASQ1 founder mutation in three Italian families with protein aggregate myopathy and hyperCKaemia
(1 July, 2015)
Claudia Di Blasi, Serena Sansanelli, Alessandra Ruggieri, Manuela Moriggi, Michele Vasso, Adamo Pio D'Adamo, Flavia Blasevich, Simona Zanotti, Cecilia Paolini, Feliciano Protasi, Frediano Tezzon, Cecilia Gelfi, Lucia Morandi, Mauro Pessia, Marina Mora

Original article:
Mutations in COQ4, an essential component of coenzyme Q biosynthesis, cause lethal neonatal mitochondrial encephalomyopathy
(16 July, 2015)
Wendy K Chung, Kimberly Martin, Chaim Jalas, Stephen R Braddock, Jane Juusola, Kristin G Monaghan, Barbara Warner, Samuel Franks, Marc Yudkoff, Lauren Lulis, Roy H Rhodes, Vinay Prasad, Erin Torti, Megan T Cho, Marwan Shinawi
Short report: Combined mineralocorticoid and glucocorticoid deficiency is caused by a novel founder nicotinamide nucleotide transhydrogenase mutation that alters mitochondrial morphology and increases oxidative stress (12 June, 2015)
Ariella Weinberg-Shukron, Abdulsalam Abu-Libdeh, Fouad Zhadeh, Liran Carmel, Aviram Kogot-Levin, Lara Kamal, Moien Kanaan, Sharon Zeligson, Paul Renbaum, Ephrat Levy-Lahad, David Zangen

Short report:
The BRCA2 polymorphic stop codon: stuff or nonsense?
(3 June, 2015)
J E Higgs, E F Harkness, N L Bowers, E Howard, A J Wallace, F Lalloo, W G Newman, D G Evans