Volume 14, Issue 1 (January 2012)


Research Highlights

News Briefs FREE

Genet Med 14: 1; doi:10.1038/gim.2011.74



The family history: the first genetic test, and still useful after all those years? FREE

Reed E. Pyeritz MD, PhD

Genet Med 14: 3-9; advance online publication, October 7, 2011; doi:10.1038/gim.0b013e3182310bcf


Genetest Review

Prader-Willi syndrome FREE

Suzanne B. Cassidy MD, Stuart Schwartz PhD, Jennifer L. Miller MD and Daniel J. Driscoll MD, PhD

Genet Med 14: 10-26; advance online publication, September 26, 2011; doi:10.1038/gim.0b013e31822bead0


Systematic Review

Decision to abort after a prenatal diagnosis of sex chromosome abnormality: a systematic review of the literature FREE

Kwon Chan Jeon MS, Lei-Shih Chen PhD, CHES and Patricia Goodson PhD

Genet Med 14: 27-38; advance online publication, October 7, 2011; doi:10.1038/gim.0b013e31822e57a7



Can Factor V Leiden and prothrombin G20210A testing in women with recurrent pregnancy loss result in improved pregnancy outcomes?: Results from a targeted evidence-based review FREE

Linda A. Bradley PhD, Glenn E. Palomaki PhD, Jessica Bienstock MD, MPH, Elizabeth Varga MS and Joan A. Scott MS

Genet Med 14: 39-50; advance online publication, September 13, 2011; doi:10.1038/gim.0b013e31822e575b


Original Research Articles

The National Institutes of Health Undiagnosed Diseases Program: insights into rare diseases FREE

William A. Gahl MD, PhD, Thomas C. Markello MD, PhD, Camilo Toro MD, Karin Fuentes Fajardo BS, Murat Sincan MD, Fred Gill MD, Hannah Carlson-Donohoe BA, Andrea Gropman MD, Tyler Mark Pierson MD, PhD, Gretchen Golas MS, CRNP, Lynne Wolfe MS, CRNP, Catherine Groden MS, CRNP, Rena Godfrey PA, Michele Nehrebecky MS, CRNP, Colleen Wahl MS, CRNP, Dennis M.D. Landis MD, Sandra Yang MS, Anne Madeo MS, James C. Mullikin PhD, Cornelius F. Boerkoel MD, PhD, Cynthia J. Tifft MD, PhD and David Adams MD, PhD

Genet Med 14: 51-59; advance online publication, September 26, 2011; doi:10.1038/gim.0b013e318232a005

Incidence and predictors of positive and negative effects of BRCA1/2 genetic testing on familial relationships: a 3-year follow-up study FREE

Julie Lapointe OT, PhD Candidate, Karine Bouchard MSc, Andrea Farkas Patenaude PhD, Elizabeth Maunsell PhD, Jacques Simard PhD and Michel Dorval PhD ; for the INHERIT BRCAs Research Program

Genet Med 14: 60-68; advance online publication, September 26, 2011; doi:10.1038/gim.0b013e3182310a7f

Assessing the analytic validity of molecular testing for Huntington disease using data from an external proficiency testing survey FREE

Glenn E. Palomaki PhD and C. Sue Richards PhD ; on behalf of the CAP/ACMG Biochemical and Molecular Genetics Resource Committee

Genet Med 14: 69-75; advance online publication, September 26, 2011; doi:10.1038/gim.0b013e3182310bb5

The impact of false-positive newborn screening results on families: a qualitative study FREE

Johanna L. Schmidt MPH, MGC, Karen Castellanos-Brown PhD, Saltanat Childress MSW, Natasha Bonhomme BA, Julianne S. Oktay PhD, Sharon F. Terry MA, Penny Kyler OT, ScD, Amy Davidoff PhD and Carol Greene MD

Genet Med 14: 76-80; doi:10.1038/gim.2011.5

Autoimmune lymphoproliferative syndrome due to FAS mutations outside the signal-transducing death domain: molecular mechanisms and clinical penetrance FREE

Amy P. Hsu BA, Kennichi C. Dowdell PhD, Joie Davis PNP-BC, APNG, Julie E. Niemela MS, Stacie M. Anderson BS, Pamela A. Shaw PhD, V. Koneti Rao MD and Jennifer M. Puck MD

Genet Med 14: 81-89; advance online publication, October 7, 2011; doi:10.1038/gim.0b013e3182310b7d

Cardiovascular findings in duplication 17p11.2 syndrome FREE

John L. Jefferies MD, MPH, Ricardo H. Pignatelli MD, Hugo R. Martinez MD, Patricia J. Robbins-Furman MPH, Pengfei Liu BS, Wenli Gu PhD, James R. Lupski MD, PhD and Lorraine Potocki MD

Genet Med 14: 90-94; advance online publication, October 17, 2011; doi:10.1038/gim.0b013e3182329723

Testing for variants in CYP2C19: population frequencies and testing experience in a clinical laboratory FREE

Charles M. Strom MD, PhD, Dana Goos BS, Beryl Crossley MD, Ke Zhang PhD, Arlene Buller-Burkle PhD, Michael Jarvis PhD, Franklin Quan PhD, Mei Peng PhD and Weimin Sun PhD

Genet Med 14: 95-100; advance online publication, October 7, 2011; doi:10.1038/gim.0b013e3182329870

Noninvasive fetal sex determination in maternal plasma: a prospective feasibility study FREE

F. Javier Fernández-Martínez MSc, Alberto Galindo MD, PhD, Antonio Garcia-Burguillo MD, PhD, Carmela Vargas-Gallego BSc, Nuria Nogués PhD, Marta Moreno-García MD, PhD and Ana Moreno-Izquierdo BSc

Genet Med 14: 101-106; doi:10.1038/gim.2011.8

A comprehensive survey of cancer risks in extended families FREE

Craig C. Teerlink PhD, Frederick S. Albright PhD, Lauro Lins PhD and Lisa A. Cannon-Albright PhD

Genet Med 14: 107-114; doi:10.1038/gim.2011.2

Caregiver opinions about fragile X population screening FREE

Donald B. Bailey Jr PhD, Ellen Bishop MS, Melissa Raspa PhD and Debra Skinner PhD

Genet Med 14: 115-121; advance online publication, September 13, 2011; doi:10.1038/gim.0b013e31822ebaa6

An audit of clinical service examining the uptake of genetic testing by at-risk family members FREE

Laura Forrest Grad Dip Gen Couns, PhD, Martin Delatycki MBBS, PhD, Lisette Curnow, M. Gen Couns, Loane Skene LLD, LLB (Hons) and MaryAnne Aitken Grad Dip Gen Couns, PhD

Genet Med 14: 122-128; doi:10.1038/gim.2011.3

Revisiting the Wilson-Jungner criteria: how can supplemental criteria guide public health in the era of genetic screening? FREE

Michael Petros DrPH

Genet Med 14: 129-134; advance online publication, October 7, 2011; doi:10.1038/gim.0b013e31823331d0

Successful immune tolerance induction to enzyme replacement therapy in CRIM-negative infantile Pompe disease FREE

Yoav H. Messinger MD, Nancy J. Mendelsohn MD, William Rhead MD, PhD, David Dimmock MD, Eli Hershkovitz MD, Michael Champion MBBS, Simon A. Jones MBChB, BSc, Rebecca Olson RN, CNP, Amy White MS, Cara Wells MS, Deeksha Bali PhD, Laura E. Case DPT, PCS, C/NDT, Sarah P. Young PhD, Amy S. Rosenberg MD and Priya S. Kishnani MD

Genet Med 14: 135-142; doi:10.1038/gim.2011.4

Alu elements mediate large SPG11 gene rearrangements: further spatacsin mutations FREE

Maria Conceição Pereira MSc, José Leal Loureiro MD, Jorge Pinto-Basto MD, Eva Brandão MD, Ana Margarida Lopes BSc, Georgina Neves MD, Pureza Dias MD, Ruth Geraldes MD, Isabel Pavão Martins MD, PhD, Vitor Tedim Cruz MD, Erik-Jan Kamsteeg MD, PhD, Han G. Brunner MD, PhD, Paula Coutinho MD, PhD, Jorge Sequeiros MD, PhD and Isabel Alonso PhD

Genet Med 14: 143-151; doi:10.1038/gim.2011.7


Special Article

Implementing screening for Lynch syndrome among patients with newly diagnosed colorectal cancer: summary of a public health/clinical collaborative meeting FREE

Cecelia A. Bellcross PhD, MS, Sara R. Bedrosian BA, BFA, Elvan Daniels MD, MPH, Debra Duquette MS, Heather Hampel MS, Kory Jasperson MS, Djenaba A. Joseph MD, MPH, Celia Kaye MD, PhD, Ira Lubin PhD, Laurence J. Meyer PhD, MD, Michele Reyes PhD, MS, Maren T. Scheuner MD, MPH, Sheri D. Schully PhD, Leigha Senter MS, Sherri L. Stewart PhD, Jeanette St. Pierre MA, MPH, Judith Westman MD, Paul Wise MD, Vincent W. Yang MD, PhD and Muin J. Khoury MD, PhD

Genet Med 14: 152-162; advance online publication, October 27, 2011; doi:10.1038/gim.0b013e31823375ea


Education Report

Enhancing exposure to genetics and genomics through an innovative medical school curriculum FREE

Shweta U. Dhar MD, MS, FACMG, Raye L. Alford PhD, FACMG, Elizabeth A. Nelson MD and Lorraine Potocki MD, FACMG

Genet Med 14: 163-167; advance online publication, September 26, 2011; doi:10.1038/gim.0b013e31822dd7d4


Letters to the Editor

Toward better counseling for Down syndrome FREE

Erawati V. Bawle MD, FACMG

Genet Med 14: 168; doi:10.1038/gim.2011.14

How can we stimulate translational research in cancer genomics beyond bench to bedside? FREE

Sheri D. Schully PhD, Camilla B. Benedicto MPH and Muin J. Khoury MD, PhD

Genet Med 14: 169-170; doi:10.1038/gim.2011.12


ACMG Practice Guidelines

Evaluation of the adolescent or adult with some features of Marfan syndrome FREE

Reed E. Pyeritz MD, PhD for the Professional Practice and Guidelines Committee, ACMG

Genet Med 14: 171-177; advance online publication, January 5, 2012; doi:10.1038/gim.2011.48


ACMG College News

ACMG Clinical Genetics Meeting FREE

Genet Med 14: 178-179; doi:10.1038/gim.2011.55



Podcast FREE

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