Volume 14, Issue 3 (March 2012)


Research Highlights

News Briefs FREE

Genet Med 14: 283-284; doi:10.1038/gim.2012.29


Genetest Review

Costello syndrome: a Ras/mitogen activated protein kinase pathway syndrome (rasopathy) resulting from HRAS germline mutations FREE

Karen W. Gripp MD and Angela E. Lin MD

Genet Med 14: 285-292; doi:10.1038/gim.0b013e31822dd91f



Dialogues, dilemmas, and disclosures: genomic research and incidental findings FREE

Lynn W. Bush PhD, MA and Karen H. Rothenberg JD, MPA

Genet Med 14: 293-295; doi:10.1038/gim.2011.72


Original Research Articles

DNA sequencing of maternal plasma reliably identifies trisomy 18 and trisomy 13 as well as Down syndrome: an international collaborative study Open

Glenn E. Palomaki PhD, Cosmin Deciu MS, Edward M. Kloza MS, Geralyn M. Lambert-Messerlian PhD, James E. Haddow MD, Louis M. Neveux BA, Mathias Ehrich MD, Dirk van den Boom PhD, Allan T. Bombard MD, MBA, Wayne W. Grody MD, PhD, Stanley F. Nelson MD and Jacob A. Canick PhD

Genet Med 14: 296-305; advance online publication, February 2, 2012; doi:10.1038/gim.2011.73

Molecular genetic testing for fragile X syndrome: laboratory performance on the College of American Pathologists proficiency surveys (2001–2009) FREE

Karen E. Weck MD, Barbara Zehnbauer PhD, Michael Datto MD, PhD and Iris Schrijver MD ; for the CAP/ACMG Biochemical and Molecular Genetics Resource Committee

Genet Med 14: 306-312; advance online publication, January 5, 2012; doi:10.1038/gim.2011.11

NIPBL rearrangements in Cornelia de Lange syndrome: evidence for replicative mechanism and genotype–phenotype correlation FREE

Davut Pehlivan MD, Melanie Hullings BSE, Claudia M.B. Carvalho PhD, Claudia G. Gonzaga-Jauregui BS, Elizabeth Loy BS, Laird G. Jackson MD, Ian D. Krantz MD, Matthew A. Deardorff MD, PhD and James R. Lupski MD, PhD

Genet Med 14: 313-322; advance online publication, January 5, 2012; doi:10.1038/gim.2011.13

Prioritization of future genetics education for general practitioners: a Delphi study Open

Elisa J.F. Houwink MD, Lidewij Henneman PhD, Myrte Westerneng MSc, Scheltus J. van Luijk MD, PhD, Martina C. Cornel MD, PhD, Jan Geert Dinant MD, PhD and Cees van der Vleuten PhD

Genet Med 14: 323-329; advance online publication, January 5, 2012; doi:10.1038/gim.2011.15

The beliefs, motivations, and expectations of parents who have enrolled their children in a genetic biorepository FREE

Erin D. Harris BA, Sonja I. Ziniel PhD, Jonathan G. Amatruda BA, Catherine M. Clinton MS, Sarah K. Savage MS, Patrick L. Taylor JD, Noelle L. Huntington PhD, Robert C. Green MD, MPH and Ingrid A. Holm MD, MPH

Genet Med 14: 330-337; advance online publication, January 26, 2012; doi:10.1038/gim.2011.25

Familial clustering of schizophrenia, bipolar disorder, and major depressive disorder FREE

Maartje F. Aukes PhD, Wijnand Laan PhD, Fabian Termorshuizen PhD, Jacobine E. Buizer-Voskamp MSc, Eric A.M. Hennekam, Hugo M. Smeets PhD, Roel A. Ophoff PhD, Marco P.M. Boks MD, PhD and René S. Kahn MD, PhD

Genet Med 14: 338-341; advance online publication, January 5, 2012; doi:10.1016/gim.2011.16


Brief Report

Follow-up of patients with short-chain acyl-CoA dehydrogenase and isobutyryl-CoA dehydrogenase deficiencies identified through newborn screening: one center’s experience FREE

Loren Pena MD, PhD, Brad Angle MD, Barbara Burton MD and Joel Charrow MD

Genet Med 14: 342-347; advance online publication, January 5, 2012; doi:10.1038/gim.2011.9


Letters to the Editor

Resources available for informed prenatal decisions FREE

Mark W. Leach and Brian G. Skotko

Genet Med 14: 348-349; doi:10.1038/gim.2011.58

Medical genetics and genomics curricula focused on the laboratory specialties FREE

Ping Fang PhD and Raye L. Alford PhD

Genet Med 14: 349; doi:10.1038/gim.2011.61

Fragile X population carrier screening FREE

Sylvia A. Metcalfe PhD and Alison D. Archibald Grad Dip Genet Couns, PhD

Genet Med 14: 350; doi:10.1038/gim.2011.79

Response to Metcalfe and Archibald FREE

Wayne W. Grody M.D., Ph.D.

Genet Med 14: 351; doi:10.1038/gim.2012.1


ACMG College News

ACMG college news FREE

Genet Med 14: 352-353; doi:10.1038/gim.2012.25



Podcast FREE

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