Diagnostics

Public funding for genomics: where does Canada stand?
Constantin Polychronakos

Journal of Medical Genetics Aug 2012, 49 (8) 481-482; DOI: 10.1136/jmedgenet-2012-101141
A systematic review of associated structural and chromosomal defects in oral clefts: when is prenatal genetic analysis indicated?
Wies Maarse, Anna Maria Rozendaal, Eva Pajkrt, Christl Vermeij-Keers, Aebele Barber Mink van der Molen, Marie-José Henriëtte van den Boogaard

Journal of Medical Genetics Aug 2012, 49 (8) 490-498; DOI: 10.1136/jmedgenet-2012-101013
Disruption of RAB40AL function leads to Martin–Probst syndrome, a rare X-linked multisystem neurodevelopmental human disorder
Jirair Krikor Bedoyan, Valerie M Schaibley, Weiping Peng, Yongsheng Bai, Kajari Mondal, Amol C Shetty, Mark Durham, Joseph A Micucci, Arti Dhiraaj, Jennifer M Skidmore, Julie B Kaplan, Cindy Skinner, Charles E Schwartz, Anthony Antonellis, Michael E Zwick, James D Cavalcoli, Jun Z Li, Donna M Martin

Journal of Medical Genetics May 2012, 49 (5) 332-340; DOI: 10.1136/jmedgenet-2011-100575
A recessive form of Marshall syndrome is caused by a mutation in the COL11A1 gene
Ola Khalifa, Faiqa Imtiaz, Rabab Allam, Zuhair Al-Hassnan, Amal Al-Hemidan, Khalid Al-Mane, Gheid Abuharb, Ameera Balobaid, Nadia Sakati, James Hyland, Mohammed Al-Owain

Journal of Medical Genetics Apr 2012, 49 (4) 246-248; DOI: 10.1136/jmedgenet-2012-100783
CHRNG genotype–phenotype correlations in the multiple pterygium syndromes
Julie Vogt, Neil V Morgan, Pauline Rehal, Laurence Faivre, Louise A Brueton, Kristin Becker, Jean-Pierre Fryns, Sue Holder, Lily Islam, Emma Kivuva, Sally Ann Lynch, Renaud Touraine, Louise C Wilson, Fiona MacDonald, Eamonn R Maher

Journal of Medical Genetics Jan 2012, 49 (1) 21-26; DOI: 10.1136/jmedgenet-2011-100378
Patients with a phenotype consistent with facioscapulohumeral muscular dystrophy display genetic and epigenetic heterogeneity
Sabrina Sacconi, Pilar Camaño, Jessica C de Greef, Richard J L F Lemmers, Leonardo Salviati, Pascal Boileau, Adolfo Lopez de Munain Arregui, Silvère M van der Maarel, Claude Desnuelle

Journal of Medical Genetics Jan 2012, 49 (1) 41-46; DOI: 10.1136/jmedgenet-2011-100101
Clinical validity of karyotyping for the diagnosis of chromosomal imbalance following array comparative genomic hybridisation
Jean Gekas, Maud Vallée, Lysanne Castonguay, Rachel Laframboise, Bruno Maranda, Bruno Piedboeuf, François Rousseau

Journal of Medical Genetics Dec 2011, 48 (12) 851-855; DOI: 10.1136/jmedgenet-2011-100304
Efficiency of translation termination in humans is highly dependent upon nucleotides in the neighbourhood of a (premature) termination codon
Frederic Pacho, Giovanna Zambruno, Valentina Calabresi, Dimitra Kiritsi, Holm Schneider

Journal of Medical Genetics Sep 2011, 48 (9) 640-644; DOI: 10.1136/jmg.2011.089615
Gastrointestinal polyps in McCune Albright syndrome
Margaret Zacharin, Anurag Bajpai, Chung Wo Chow, Anthony Catto-Smith, Constantine Stratakis, Michelle W Wong, Rodney Scott

Journal of Medical Genetics Jul 2011, 48 (7) 458-461; DOI: 10.1136/jmg.2010.086330
CHD7 mutations and CHARGE syndrome: the clinical implications of an expanding phenotype
J E H Bergman, N Janssen, L H Hoefsloot, M C J Jongmans, R M W Hofstra, C M A van Ravenswaaij-Arts

Journal of Medical Genetics May 2011, 48 (5) 334-342; DOI: 10.1136/jmg.2010.087106

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