Volume 14 Issue 3, March 2012

News Briefs

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

• Karen W. Gripp
• Angela E. Lin

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

• Lynn W. Bush
• Karen H. Rothenberg

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

• Glenn E. Palomaki
• Cosmin Deciu
• Jacob A. Canick

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

• Karen E. Weck
• Barbara Zehnbauer
• Iris Schrijver

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

• Davut Pehlivan
• Melanie Hullings
• James R. Lupski

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

• Elisa J.F. Houwink
• Lidewij Henneman
• Cees van der Vleuten

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

• Erin D. Harris
• Sonja I. Ziniel
• Ingrid A. Holm

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

• Maartje F. Aukes
• Wijnand Laan
• René S. Kahn

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

• Loren Pena
• Brad Angle
• Joel Charrow

Resources available for informed prenatal decisions

• Mark W. Leach
• Brian G. Skotko

Medical genetics and genomics curricula focused on the laboratory specialties

• Ping Fang
• Raye L. Alford

Fragile X population carrier screening

• Sylvia A. Metcalfe
• Alison D. Archibald

Response to Metcalfe and Archibald

• Wayne W. Grody

ACMG college news