Journal of Medical Genetics: 48 (9)

Commentaries

A RaDiCAL approach to gene discovery (27 June, 2011)
David S Rosenblatt
Exome diagnostics: already a reality? (23 August, 2011)
Constantin Polychronakos, Ku Chee Seng

What can exome sequencing do for you? (5 July, 2011)
Jacek Majewski, Jeremy Schwartzentruber, Emilie Lalonde, Alexandre Montpetit, Nada Jabado

Original article:
Novel inborn error of folate metabolism: identification by exome capture and sequencing of mutations in the MTHFD1 gene in a single proband
(3 August, 2011)
David Watkins, Jeremy A Schwartzentruber, Jaya Ganesh, Jordan S Orange, Bernard S Kaplan, Laura Dempsey Nunez, Jacek Majewski, David S Rosenblatt
Communications: A new ocular phenotype associated with an unexpected but known systemic disorder and mutation: novel use of genomic diagnostics and exome sequencing (23 August, 2011)
Jacek Majewski, Zibo Wang, Irma Lopez, Sulaiman Al Humaid, Huanan Ren, Julie Racine, Alex Bazinet, Grant Mitchel, Nancy Braverman, Robert K Koenekoop
Original article:
Identification of ADAMTS18 as a gene mutated in Knobloch syndrome
(23 August, 2011)
Mohammed A Aldahmesh, Arif O Khan, Jawahir Y Mohamed, Hisham Alkuraya, Hala Ahmed, Steve Bobis, Saleh Al-Mesfer, Fowzan S Alkuraya
Short report:
Combined malonic and methylmalonic aciduria: exome sequencing reveals mutations in the ACSF3 gene in patients with a non-classic phenotype
(23 July, 2011) Free
Ahmed Alfares, Laura Dempsey Nunez, Khalid Al-Thihli, John Mitchell, Serge Melançon, Natascia Anastasio, Kevin C H Ha, Jacek Majewski, David S Rosenblatt, Nancy Braverman
Short report: Rapid detection of a mutation causing X-linked leucoencephalopathy by exome sequencing (17 March, 2011)
Yoshinori Tsurusaki, Hitoshi Osaka, Haruka Hamanoue, Hiroko Shimbo, Megumi Tsuji, Hiroshi Doi, Hirotomo Saitsu, Naomichi Matsumoto, Noriko Miyake

Original article: Kearns–Sayre syndrome caused by defective R1/p53R2 assembly (4 March, 2011)
Robert D S Pitceathly, Elisa Fassone, Jan-Willem Taanman, Michael Sadowski, Carl Fratter, Ese E Mudanohwo, Cathy E Woodward, Mary G Sweeney, Janice L Holton, Michael G Hanna, Shamima Rahman

Original article: Genetic analysis of inherited bone marrow failure syndromes from one prospective, comprehensive and population-based cohort and identification of novel mutations (9 June, 2011)
E Tsangaris, R Klaassen, C V Fernandez, R Yanofsky, E Shereck, J Champagne, M Silva, J H Lipton, J Brossard, B Michon, S Abish, M Steele, K Ali, N Dower, U Athale, L Jardine, J P Hand, I Odame, P Canning, C Allen, M Carcao, J Beyene, C M Roifman, Y Dror

Original article:
Association of HFE and TMPRSS6 genetic variants with iron and erythrocyte parameters is only in part dependent on serum hepcidin concentrations
(23 July, 2011)
Michela Traglia, Domenico Girelli, Ginevra Biino, Natascia Campostrini, Michela Corbella, Cinzia Sala, Corrado Masciullo, Fiammetta Viganò, Iwan Buetti, Giorgio Pistis, Massimiliano Cocca, Clara Camaschella, Daniela Toniolo

Short report: Microtriplication of 11q24.1: a highly recognisable phenotype with short stature, distinctive facial features, keratoconus, overweight, and intellectual disability (26 May, 2011)
Claire Beneteau, Emilie Landais, Martine Doco-Fenzy, Cyrille Gavazzi, Christophe Philippe, Mylène Béri-Dexheimer, Céline Bonnet, Jacqueline Vigneron, Pierre Walrafen, Jacques Motte, Bruno Leheup, Philippe Jonveaux

Short report:
The FOXE1 and NKX2-1 loci are associated with susceptibility to papillary thyroid carcinoma in the Japanese population
(5 July, 2011)
Michiko Matsuse, Meiko Takahashi, Norisato Mitsutake, Eijun Nishihara, Mitsuyoshi Hirokawa, Takahisa Kawaguchi, Tatiana Rogounovitch, Vladimir Saenko, Andrey Bychkov, Keiji Suzuki, Keitaro Matsuo, Kazuo Tajima, Akira Miyauchi, Ryo Yamada, Fumihiko Matsuda, Shunichi Yamashita