The clinical application of genome-wide sequencing for monogenic diseases in Canada: Position Statement of the Canadian College of Medical Geneticists

Kym M. Boycott, Taila Hartley, Shelin Adam, +22

Journal of Medical Genetics

Massively Parallel Sequencing of Exons on the X Chromosome Identifies RBM10 as the Gene that Causes a Syndromic Form of Cleft Palate

Jennifer J. Johnston, Jamie K. Teer, Praveen F. Cherukuri, +5

The American Journal of Human Genetics

Developmental BiologyParallel SequencingMendelian DisorderGenetic DisorderGenetics +9

Mutations in FKBP10, which result in Bruck syndrome and recessive forms of osteogenesis imperfecta, inhibit the hydroxylation of telopeptide lysines in bone collagen

U. Schwarze, Tim Cundy, Shawna M. Pyott, +35

Human Molecular Genetics

Neonatal diabetes, with hypoplastic pancreas, intestinal atresia and gall bladder hypoplasia: search for the aetiology of a new autosomal recessive syndrome

John J. Mitchell, Zubin Punthakee, Bernard Lo, +9

Diabetologia

Gall Bladder HypoplasiaDiabetesGastroenterologyPediatricsPathology +5

Fetal cardiac defects and increased nuchal translucency thickness: A prospective study

Fionnuala M. McAuliffe, Lisa K. Hornberger, Stephanie Winsor, +3

American Journal of Obstetrics and Gynecology

Nuchal Translucency ThicknessFetal MedicineCongenital Heart DefectProspective StudyCongenital Heart Anomaly +5

Mapping the cellular origin and early evolution of leukemia in Down syndrome

Elvin Wagenblast, Joana Araújo, Olga I. Gan, +26

Science

Activating Mutations of RRAS2 Are a Rare Cause of Noonan Syndrome

Yline Capri, Elisabetta Flex, Oliver H.F. Krumbach, +30

The American Journal of Human Genetics

Rare CauseGeneticsPathologyNoonan SyndromeRras2 Are +2

Deletion of 15q11.2(BP1‐BP2) region: Further evidence for lack of phenotypic specificity in a pediatric population

Bita Hashemi, Anne S. Bassett, David Chitayat, +13

American Journal of Medical Genetics Part A

Further EvidenceBp1-bp2 RegionPediatric HematologyGenetic DisorderGenetics +13

TRPV6 Variants Interfere with Maternal-Fetal Calcium Transport through the Placenta and Cause Transient Neonatal Hyperparathyroidism

Yoshiro Suzuki, David Chitayat, Hirotake Sawada, +15

The American Journal of Human Genetics

Maternal-fetal Calcium TransportTrpv6 Variants InterfereParathyroid HormoneParathyroid DiseaseGynecology +5

<i>ATP1A2-</i> and <i>ATP1A3-</i>associated early profound epileptic encephalopathy and polymicrogyria

Annalisa Vetro, Hang N. Nielsen, Rikke Holm, +26

Brain