Genetics in Medicine contents: Volume 17, Issue 2

TABLE OF CONTENTS Volume 17, Issue 2 (February 2015) In this issue Research Highlights Commentary Original Research Articles Education Report Genetic Legacy Erratum Corrigendum Podcast Advertisement 2015 ACMG Annual Clinical Genetics Meeting, March 24-28, Salt Lake City  The ACMG Meeting is the preeminent annual gathering of the leaders in the field of genetics and genomics and will provide genetics professionals with the opportunity to learn how genetics and genomics are being integrated into medical or clinical practice. Register to attend     Research Highlights Top In This Issue Karyn Hede Genet Med 2015 17: 95; 10.1038/gim.2014.200 Full Text News Briefs Genet Med 2015 17: 95-96; 10.1038/gim.2014.201 Full Text Commentary Top Multiplex genetic testing: reconsidering utility and informed consent in the era of next-generation sequencing Angela R. Bradbury, Linda Patrick-Miller and Susan Domchek Genet Med 2015 17: 97-98; advance online publication, July 17, 2014; 10.1038/gim.2014.85 Full Text Original Research Articles Top Improved molecular diagnosis by the detection of exonic deletions with target gene capture and deep sequencing OPEN Yanming Feng, David Chen, Guo-Li Wang, Victor Wei Zhang and Lee-Jun C. Wong Genet Med 2015 17: 99-107; advance online publication, July 17, 2014; 10.1038/gim.2014.80 Abstract | Full Text Comprehensive CFTR gene analysis of the French cystic fibrosis screened newborn cohort: implications for diagnosis, genetic counseling, and mutation-specific therapy Marie Pierre Audrézet, Anne Munck, Virginie Scotet, Mireille Claustres, Michel Roussey, Dominique Delmas, Claude Férec and Marie Desgeorges Genet Med 2015 17: 108-116; advance online publication, August 14, 2014; 10.1038/gim.2014.113 Abstract | Full Text Cigarette smoking in women after BRCA1/2 genetic test disclosure: a 5-year follow-up study of the GENEPSO PS cohort Claire Julian-Reynier, Noémie Resseguier, Anne-Deborah Bouhnik, François Eisinger, Christine Lasset, Emmanuelle Fourme and Catherine Noguès Genet Med 2015 17: 117-124; advance online publication, July 10, 2014; 10.1038/gim.2014.82 Abstract | Full Text State-based surveillance for selected hemoglobinopathies Mary M. Hulihan, Lisa Feuchtbaum, Lanetta Jordan, Russell S. Kirby, Angela Snyder, William Young, Yvonne Greene, Joseph Telfair, Ying Wang, William Cramer, Ellen M. Werner, Kristy Kenney, Melissa Creary and Althea M. Grant Genet Med 2015 17: 125-130; advance online publication, July 3, 2014; 10.1038/gim.2014.81 Abstract | Full Text Whole-exome sequencing identifies rare pathogenic variants in new predisposition genes for familial colorectal cancer OPEN Clara Esteban-Jurado, Maria Vila-Casadesús, Pilar Garre, Juan José Lozano, Anna Pristoupilova, Sergi Beltran, Jenifer Muñoz, Teresa Ocaña, Francesc Balaguer, Maria López-Cerón, Miriam Cuatrecasas, Sebastià Franch-Expósito, Josep M. Piqué, Antoni Castells, Angel Carracedo, Clara Ruiz-Ponte, Anna Abulí, Xavier Bessa, Montserrat Andreu, Luis Bujanda, Trinidad Caldés and Sergi Castellví-Bel the EPICOLON Consortium Genet Med 2015 17: 131-142; advance online publication, July 24, 2014; 10.1038/gim.2014.89 Abstract | Full Text Evidence for autism spectrum disorder in Jacobsen syndrome: identification of a candidate gene in distal 11q Natacha Akshoomoff, Sarah N. Mattson and Paul D. Grossfeld Genet Med 2015 17: 143-148; advance online publication, July 24, 2014; 10.1038/gim.2014.86 Abstract | Full Text Delineating the 15q13.3 microdeletion phenotype: a case series and comprehensive review of the literature Chelsea Lowther, Gregory Costain, Dimitri J. Stavropoulos, Rebecca Melvin, Candice K. Silversides, Danielle M. Andrade, Joyce So, Hanna Faghfoury, Anath C. Lionel, Christian R. Marshall, Stephen W. Scherer and Anne S. Bassett Genet Med 2015 17: 149-157; advance online publication, July 31, 2014; 10.1038/gim.2014.83 Abstract | Full Text Education Report Top Horizontal integration of OMIM across the medical school preclinical curriculum for early reinforcement of clinical genetics principles Adam C. Diehl, Lauren Reader, Ada Hamosh and Joann N. Bodurtha Genet Med 2015 17: 158-163; advance online publication, July 17, 2014; 10.1038/gim.2014.84 Abstract | Full Text Genetic Legacy Top The Genetics of Luck Helga V. Toriello Genet Med 2015 17: 164-165; advance online publication, July 17, 2014; 10.1038/gim.2014.87 Full Text Erratum Top ERRATUM: Carrier testing in children: exploration of genetic health professionals’ practices in Australia Genet Med 2015 17: 166; 10.1038/gim.2014.164 Full Text Corrigendum Top CORRIGENDUM: Alu-mediated nonallelic homologous and nonhomologous recombination in the BMPR2 gene in heritable pulmonary arterial hypertension Genet Med 2015 17: 166; 10.1038/gim.2013.67 Full Text Podcast Top Listen to the latest podcast here. 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