Genetics in Medicine contents: Volume 14, Issue 1

TABLE OF CONTENTS Volume 14, Issue 1 (January 2012) In this issue Research Highlights Reviews Original Research Articles Special Article Education Report Letters to the Editor ACMG Practice Guidelines ACMG College News Podcast Also new AOP Advertisement PreventionGenetics is a CAP/CLIA accredited market leader in clinical gene sequencing, with one of the most comprehensive menus of clinical DNA tests anywhere. Our laboratory is dedicated to providing the highest quality, along with low costs and fast turnaround times. View our complete test menu and compare our prices. DNA Banking is also available. Sign up for e-alerts Recommend to your library Web feed Subscribe JOINED NPG IN JANUARY 2012 Genetics in Medicine (GIM) is the official journal of the American College of Medical Genetics with a mission to enhance the knowledge and practice of medical genetics and genomics. This peer-reviewed monthly journal offers an unprecedented forum for the presentation of innovative, clinically relevant papers in contemporary genetic medicine, including such areas as genomics, chromosome abnormalities, metabolic diseases, single gene disorders and genetic aspects of common complex diseases. Recommend GIM to your library.   Research Highlights Top In This Issue Genet Med 2012 14: 1; 10.1038/gim.2011.54 Full Text News Briefs Genet Med 2012 14: 1; 10.1038/gim.2011.74 Full Text Reviews Top The family history: the first genetic test, and still useful after all those years? Reed E. Pyeritz Genet Med 2012 14: 3-9; advance online publication, October 7, 2011; 10.1038/gim.0b013e3182310bcf Abstract | Full Text Prader-Willi syndrome Suzanne B. Cassidy, Stuart Schwartz, Jennifer L. Miller and Daniel J. Driscoll Genet Med 2012 14: 10-26; advance online publication, September 26, 2011; 10.1038/gim.0b013e31822bead0 Abstract | Full Text Decision to abort after a prenatal diagnosis of sex chromosome abnormality: a systematic review of the literature Kwon Chan Jeon, Lei-Shih Chen and Patricia Goodson Genet Med 2012 14: 27-38; advance online publication, October 7, 2011; 10.1038/gim.0b013e31822e57a7 Abstract | Full Text 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 Linda A. Bradley, Glenn E. Palomaki, Jessica Bienstock, Elizabeth Varga and Joan A. Scott Genet Med 2012 14: 39-50; advance online publication, September 13, 2011; 10.1038/gim.0b013e31822e575b Abstract | Full Text Original Research Articles Top The National Institutes of Health Undiagnosed Diseases Program: insights into rare diseases William A. Gahl, Thomas C. Markello, Camilo Toro, Karin Fuentes Fajardo, Murat Sincan, Fred Gill, Hannah Carlson-Donohoe, Andrea Gropman, Tyler Mark Pierson, Gretchen Golas, Lynne Wolfe, Catherine Groden, Rena Godfrey, Michele Nehrebecky, Colleen Wahl, Dennis M.D. Landis, Sandra Yang, Anne Madeo, James C. Mullikin, Cornelius F. Boerkoel, Cynthia J. Tifft and David Adams Genet Med 2012 14: 51-59; advance online publication, September 26, 2011; 10.1038/gim.0b013e318232a005 Abstract | Full Text Incidence and predictors of positive and negative effects of BRCA1/2 genetic testing on familial relationships: a 3-year follow-up study Julie Lapointe, Karine Bouchard, Andrea Farkas Patenaude, Elizabeth Maunsell, Jacques Simard and Michel Dorval ; for the INHERIT BRCAs Research Program Genet Med 2012 14: 60-68; advance online publication, September 26, 2011; 10.1038/gim.0b013e3182310a7f Abstract | Full Text Assessing the analytic validity of molecular testing for Huntington disease using data from an external proficiency testing survey Glenn E. Palomaki and C. Sue Richards ; on behalf of the CAP/ACMG Biochemical and Molecular Genetics Resource Committee Genet Med 2012 14: 69-75; advance online publication, September 26, 2011; 10.1038/gim.0b013e3182310bb5 Abstract | Full Text The impact of false-positive newborn screening results on families: a qualitative study Johanna L. Schmidt, Karen Castellanos-Brown, Saltanat Childress, Natasha Bonhomme, Julianne S. Oktay, Sharon F. Terry, Penny Kyler, Amy Davidoff and Carol Greene Genet Med 2012 14: 76-80; 10.1038/gim.2011.5 Abstract | Full Text Autoimmune lymphoproliferative syndrome due to FAS mutations outside the signal-transducing death domain: molecular mechanisms and clinical penetrance Amy P. Hsu, Kennichi C. Dowdell, Joie Davis, Julie E. Niemela, Stacie M. Anderson, Pamela A. Shaw, V. Koneti Rao and Jennifer M. Puck Genet Med 2012 14: 81-89; advance online publication, October 7, 2011; 10.1038/gim.0b013e3182310b7d Abstract | Full Text Cardiovascular findings in duplication 17p11.2 syndrome John L. Jefferies, Ricardo H. Pignatelli, Hugo R. Martinez, Patricia J. Robbins-Furman, Pengfei Liu, Wenli Gu, James R. Lupski and Lorraine Potocki Genet Med 2012 14: 90-94; advance online publication, October 17, 2011; 10.1038/gim.0b013e3182329723 Abstract | Full Text Testing for variants in CYP2C19: population frequencies and testing experience in a clinical laboratory Charles M. Strom, Dana Goos, Beryl Crossley, Ke Zhang, Arlene Buller-Burkle, Michael Jarvis, Franklin Quan, Mei Peng and Weimin Sun Genet Med 2012 14: 95-100; advance online publication, October 7, 2011; 10.1038/gim.0b013e3182329870 Abstract | Full Text Noninvasive fetal sex determination in maternal plasma: a prospective feasibility study F. Javier Fernández-Martínez, Alberto Galindo, Antonio Garcia-Burguillo, Carmela Vargas-Gallego, Nuria Nogués, Marta Moreno-García and Ana Moreno-Izquierdo Genet Med 2012 14: 101-106; 10.1038/gim.2011.8 Abstract | Full Text A comprehensive survey of cancer risks in extended families Craig C. Teerlink, Frederick S. Albright, Lauro Lins and Lisa A. Cannon-Albright Genet Med 2012 14: 107-114; 10.1038/gim.2011.2 Abstract | Full Text Caregiver opinions about fragile X population screening Donald B. Bailey, Jr, Ellen Bishop, Melissa Raspa and Debra Skinner Genet Med 2012 14: 115-121; advance online publication, September 13, 2011; 10.1038/gim.0b013e31822ebaa6 Abstract | Full Text An audit of clinical service examining the uptake of genetic testing by at-risk family members Laura Forrest, Martin Delatycki, Lisette Curnow, M. Gen Couns, Loane Skene and MaryAnne Aitken Genet Med 2012 14: 122-128; 10.1038/gim.2011.3 Abstract | Full Text Revisiting the Wilson-Jungner criteria: how can supplemental criteria guide public health in the era of genetic screening? Michael Petros Genet Med 2012 14: 129-134; advance online publication, October 7, 2011; 10.1038/gim.0b013e31823331d0 Abstract | Full Text Successful immune tolerance induction to enzyme replacement therapy in CRIM-negative infantile Pompe disease Yoav H. Messinger, Nancy J. Mendelsohn, William Rhead, David Dimmock, Eli Hershkovitz, Michael Champion, Simon A. Jones, Rebecca Olson, Amy White, Cara Wells, Deeksha Bali, Laura E. Case, Sarah P. Young, Amy S. Rosenberg and Priya S. Kishnani Genet Med 2012 14: 135-142; 10.1038/gim.2011.4 Abstract | Full Text Alu elements mediate large SPG11 gene rearrangements: further spatacsin mutations Maria Conceição Pereira, José Leal Loureiro, Jorge Pinto-Basto, Eva Brandão, Ana Margarida Lopes, Georgina Neves, Pureza Dias, Ruth Geraldes, Isabel Pavão Martins, Vitor Tedim Cruz, Erik-Jan Kamsteeg, Han G. Brunner, Paula Coutinho, Jorge Sequeiros and Isabel Alonso Genet Med 2012 14: 143-151; 10.1038/gim.2011.7 Abstract | Full Text Special Article Top Implementing screening for Lynch syndrome among patients with newly diagnosed colorectal cancer: summary of a public health/clinical collaborative meeting Cecelia A. Bellcross, Sara R. Bedrosian, Elvan Daniels, Debra Duquette, Heather Hampel, Kory Jasperson, Djenaba A. Joseph, Celia Kaye, Ira Lubin, Laurence J. Meyer, Michele Reyes, Maren T. Scheuner, Sheri D. Schully, Leigha Senter, Sherri L. Stewart, Jeanette St. Pierre, Judith Westman, Paul Wise, Vincent W. Yang and Muin J. Khoury Genet Med 2012 14: 152-162; advance online publication, October 27, 2011; 10.1038/gim.0b013e31823375ea Abstract | Full Text Education Report Top Enhancing exposure to genetics and genomics through an innovative medical school curriculum Shweta U. Dhar, Raye L. Alford, Elizabeth A. Nelson and Lorraine Potocki Genet Med 2012 14: 163-167; advance online publication, September 26, 2011; 10.1038/gim.0b013e31822dd7d4 Abstract | Full Text Letters to the Editor Top Toward better counseling for Down syndrome Erawati V. Bawle Genet Med 2012 14: 168; 10.1038/gim.2011.14 Full Text How can we stimulate translational research in cancer genomics beyond bench to bedside? Sheri D. Schully, Camilla B. Benedicto and Muin J. Khoury Genet Med 2012 14: 169-170; 10.1038/gim.2011.12 Full Text ACMG Practice Guidelines Top Evaluation of the adolescent or adult with some features of Marfan syndrome Reed E. Pyeritz for the Professional Practice and Guidelines Committee, ACMG Genet Med 2012 14: 171-177; 10.1038/gim.2011.48 Abstract | Full Text ACMG College News Top Genet Med 2012 14: 178-179; 10.1038/gim.2011.55 PDF Podcast Top Podcast     Please note that you need to be a subscriber or site-license holder to enjoy full-text access to Genetics in Medicine. In order to do so, please purchase a subscription. You have been sent this Table of Contents Alert because you have opted in to receive it. You can change or discontinue your e-mail alerts at any time, by modifying your preferences on your nature.com account at: www.nature.com/nams/svc/myaccount (You will need to log in to be recognised as a nature.com registrant). For further technical assistance, please contact our registration department. For print subscription enquiries, please contact our subscription department. For other enquiries, please contact our customer feedback department. Nature Publishing Group | 75 Varick Street, 9th Floor | New York | NY 10013-1917 | USA Nature Publishing Group's worldwide offices: London - Paris - Munich - New Delhi - Tokyo - Melbourne San Diego - San Francisco - Washington - New York - Boston Macmillan Publishers Limited is a company incorporated in England and Wales under company number 785998 and whose registered office is located at Brunel Road, Houndmills, Basingstoke, Hampshire RG21 6XS. © 2012 Nature Publishing Group, a division of Macmillan Publishers Limited. All Rights Reserved.