Genetics in Medicine contents: Volume 16, Issue 9

TABLE OF CONTENTS Volume 16, Issue 9 (September 2014) In this issue Research Highlights Invited Review Original Research Articles Brief Reports Genetics in Medicine's new impact factor is 6.435! Head over to the journal homepage for cutting-edge clinical research in areas such as genomics, chromosome abnormalities, metabolic diseases, single gene disorders and genetic aspects of common complex diseases. 2013 Journal Citation Reports® (Thomson Reuters, 2014)   Research Highlights Top In this Issue Genet Med 2014 16: 647; 10.1038/gim.2014.107 Full Text News Briefs Genet Med 2014 16: 647-648; 10.1038/gim.2014.114 Full Text Invited Review Top Nicotinic acetylcholine receptors in human genetic disease Christian P. Schaaf Genet Med 2014 16: 649-656; advance online publication, February 20, 2014; 10.1038/gim.2014.9 Abstract | Full Text Original Research Articles Top The impact of chromosomal microarray on clinical management: a retrospective analysis Lindsay B. Henderson, Carolyn D. Applegate, Elizabeth Wohler, Molly B. Sheridan, Julie Hoover-Fong and Denise A.S. Batista Genet Med 2014 16: 657-664; advance online publication, March 13, 2014; 10.1038/gim.2014.18 Abstract | Full Text Acute care utilization for inherited metabolic diseases among children identified through newborn screening in New York state Ying Wang, Marilyn Sango-Jordan and Michele Caggana Genet Med 2014 16: 665-670; advance online publication, March 13, 2014; 10.1038/gim.2014.21 Abstract | Full Text Identity-by-descent–guided mutation analysis and exome sequencing in consanguineous families reveals unusual clinical and molecular findings in retinal dystrophy Frauke Coppieters, Kristof Van Schil, Miriam Bauwens, Hannah Verdin, Annelies De Jaegher, Delfien Syx, Tom Sante, Steve Lefever, Nouha Bouayed Abdelmoula, Fanny Depasse, Ingele Casteels, Thomy de Ravel, Françoise Meire, Bart P. Leroy and Elfride De Baere Genet Med 2014 16: 671-680; advance online publication, March 13, 2014; 10.1038/gim.2014.24 Abstract | Full Text A single center’s experience with noninvasive prenatal testing Carmen J. Beamon, Emily E. Hardisty, Sarah C. Harris and Neeta L. Vora Genet Med 2014 16: 681-687; advance online publication, March 27, 2014; 10.1038/gim.2014.20 Abstract | Full Text PALB2 sequencing in Italian familial breast cancer cases reveals a high-risk mutation recurrent in the province of Bergamo Irene Catucci, Paolo Peterlongo, Sara Ciceri, Mara Colombo, Graziella Pasquini, Monica Barile, Bernardo Bonanni, Paolo Verderio, Sara Pizzamiglio, Claudia Foglia, Anna Falanga, Marina Marchetti, Laura Galastri, Tiziana Bianchi, Chiara Corna, Fernando Ravagnani, Loris Bernard, Stefano Fortuzzi, Domenico Sardella, Giulietta Scuvera, Bernard Peissel, Siranoush Manoukian, Carlo Tondini and Paolo Radice Genet Med 2014 16: 688-694; advance online publication, February 20, 2014; 10.1038/gim.2014.13 Abstract | Full Text Results of the College of American Pathology/American College of Medical Genetics and Genomics external proficiency testing from 2006 to 2013 for three conditions prevalent in the Ashkenazi Jewish population Gerald L. Feldman, Iris Schrijver, Elaine Lyon and Glenn E. Palomaki ; on behalf of the CAP/ACMG Biochemical and Molecular Genetics Resource Committee Genet Med 2014 16: 695-702; advance online publication, February 27, 2014; 10.1038/gim.2014.14 Abstract | Full Text Involvement of DNMT3B in the pathogenesis of Hirschsprung disease and its possible role as a regulator of neurogenesis in the human enteric nervous system Ana Torroglosa, María Valle Enguix-Riego, Raquel María Fernández, Francisco José Román-Rodriguez, María José Moya-Jiménez, Juan Carlos de Agustín, Guillermo Antiñolo and Salud Borrego Genet Med 2014 16: 703-710; advance online publication, February 27, 2014; 10.1038/gim.2014.17 Abstract | Full Text A clinical scoring system to identify patients with sebaceous neoplasms at risk for the Muir–Torre variant of Lynch syndrome Maegan E. Roberts, Douglas L. Riegert-Johnson, Brittany C. Thomas, Kandelaria M. Rumilla, Colleen S. Thomas, Michael G. Heckman, Jennifer U. Purcell, Nancy B. Hanson, Kathleen A. Leppig, Justin Lim and Mark A. Cappel Genet Med 2014 16: 711-716; advance online publication, March 6, 2014; 10.1038/gim.2014.19 Abstract | Full Text Brief Reports Top Clinical whole-exome sequencing: are we there yet? Paldeep Singh Atwal, Marie-Louise Brennan, Rachel Cox, Michael Niaki, Julia Platt, Margaret Homeyer, Andrea Kwan, Sylvie Parkin, Susan Schelley, Leah Slattery, Yael Wilnai, Jonathan Adam Bernstein, Gregory M. Enns and Louanne Hudgins Genet Med 2014 16: 717-719; advance online publication, February 13, 2014; 10.1038/gim.2014.10 Abstract | Full Text Autosomal recessive POLR1D mutation with decrease of TCOF1 mRNA is responsible for Treacher Collins syndrome Elise Schaefer, Corinne Collet, David Genevieve, Marie Vincent, Dietmar R. Lohmann, Elodie Sanchez, Chantal Bolender, Marie-Madeleine Eliot, Gudrun Nürnberg, Maria-Rita Passos-Bueno, Dagmar Wieczorek, Lionel van Maldergem and Bérénice Doray Genet Med 2014 16: 720-724; advance online publication, March 6, 2014; 10.1038/gim.2014.12 Abstract | Full Text You have been sent this Table of Contents Alert because you have opted in to receive it. 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TABLE OF CONTENTS Volume 16, Issue 8 (August 2014) In this issue Research Highlights Commentary Invited Commentary Special Article Original Research Article Letter to the Editor Clinical Adult Geneticist - Department of Medicine University of Colorado Denver, Anschutz Medical Campus The Adult Medical Genetics Program (AMGP) invites applications to fill a faculty position for a Clinical Adult Geneticist. The recruit would operate clinically in the AMGP Adult Genetics Clinic and would interface with the newly developed Personalized Medicine Program.
Research Highlights		Top
In this Issue Genet Med 2014 16: 569; 10.1038/gim.2014.96 Full Text
News Briefs Genet Med 2014 16: 569-570; 10.1038/gim.2014.98 Full Text
Commentary		Top
The growing role of professional societies in educating clinicians in genomics Teri A. Manolio and Michael F. Murray ; for the Inter-Society Coordinating Committee for Practitioner Education in Genomics Genet Med 2014 16: 571-572; advance online publication, February 6, 2014; 10.1038/gim.2014.6 Full Text
Invited Commentary		Top
Genetics and the Veterans Health Administration Vickie Venne and Laurence J. Meyer Genet Med 2014 16: 573-575; advance online publication, March 13, 2014; 10.1038/gim.2014.7 Full Text
Special Article		Top
Loeys–Dietz syndrome: a primer for diagnosis and management OPEN Gretchen MacCarrick, James H. Black, III, Sarah Bowdin, Ismail El-Hamamsy, Pamela A. Frischmeyer-Guerrerio, Anthony L. Guerrerio, Paul D. Sponseller, Bart Loeys and Harry C. Dietz, III Genet Med 2014 16: 576-587; advance online publication, February 27, 2014; 10.1038/gim.2014.11 Abstract | Full Text
Appreciating the broad clinical features of SMAD4 mutation carriers: a multicenter chart review Karen E. Wain, Marissa S. Ellingson, Jamie McDonald, Amanda Gammon, Maegan Roberts, Pavel Pichurin, Ingrid Winship, Douglas L. Riegert-Johnson, Jeffrey N. Weitzel and Noralane M. Lindor Genet Med 2014 16: 588-593; advance online publication, February 13, 2014; 10.1038/gim.2014.5 Abstract | Full Text
Original Research Article		Top
Integration of targeted sequencing and NIPT into clinical practice in a Chinese family with maple syrup urine disease Yanqin You, Yan Sun, Xuchao Li, Yali Li, Xiaoming Wei, Fang Chen, Huijuan Ge, Zhangzhang Lan, Qian Zhu, Ying Tang, Shujuan Wang, Ya Gao, Fuman Jiang, Jiaping Song, Quan Shi, Xuan Zhu, Feng Mu, Wei Dong, Vince Gao, Hui Jiang, Xin Yi, Wei Wang and Zhiying Gao Genet Med 2014 16: 594-600; advance online publication, March 6, 2014; 10.1038/gim.2013.197 Abstract | Full Text
The landscape of genetic variation in dilated cardiomyopathy as surveyed by clinical DNA sequencing Trevor J. Pugh, Melissa A. Kelly, Sivakumar Gowrisankar, Elizabeth Hynes, Michael A. Seidman, Samantha M. Baxter, Mark Bowser, Bryan Harrison, Daniel Aaron, Lisa M. Mahanta, Neal K. Lakdawala, Gregory McDermott, Emily T. White, Heidi L. Rehm, Matthew Lebo and Birgit H. Funke Genet Med 2014 16: 601-608; advance online publication, February 6, 2014; 10.1038/gim.2013.204 Abstract | Full Text
Delivery of clinical genetic consultative services in the Veterans Health Administration Maren T. Scheuner, Nell Marshall, Andrew Lanto, Alison B. Hamilton, Sabine Oishi, Barbara Lerner, Martin Lee and Elizabeth M. Yano Genet Med 2014 16: 609-619; advance online publication, February 6, 2014; 10.1038/gim.2013.202 Abstract | Full Text
Fetoplacental mosaicism: potential implications for false-positive and false-negative noninvasive prenatal screening results Francesca R. Grati, Francesca Malvestiti, Jose C.P.B. Ferreira, Komal Bajaj, Elisa Gaetani, Cristina Agrati, Beatrice Grimi, Francesca Dulcetti, Anna M. Ruggeri, Simona De Toffol, Federico Maggi, Ronald Wapner, Susan Gross and Giuseppe Simoni Genet Med 2014 16: 620-624; advance online publication, February 13, 2014; 10.1038/gim.2014.3 Abstract | Full Text
Genetic, cell biological, and clinical interrogation of the CFTR mutation c.3700 A>G (p.Ile1234Val) informs strategies for future medical intervention Steven V. Molinski, Tanja Gonska, Ling Jun Huan, Berivan Baskin, Ibrahim A. Janahi, Peter N. Ray and Christine E. Bear Genet Med 2014 16: 625-632; advance online publication, February 20, 2014; 10.1038/gim.2014.4 G (p.Ile1234Val) informs strategies for future medical intervention" href="http://www.nature.com/gim/journal/v16/n8/abs/gim20144a.html?WT.ec_id=GIM-201408">Abstract | G (p.Ile1234Val) informs strategies for future medical intervention" href="http://www.nature.com/gim/journal/v16/n8/full/gim20144a.html?WT.ec_id=GIM-201408">Full Text
Attitudes of parents toward the return of targeted and incidental genomic research findings in children Conrad V. Fernandez, Eric Bouffet, David Malkin, Nada Jabado, Colleen O’Connell, Denise Avard, Bartha M. Knoppers, Meghan Ferguson, Kym M. Boycott, Poul H. Sorensen, Andrew C. Orr, Johane M. Robitaille and Christopher R. McMaster Genet Med 2014 16: 633-640; advance online publication, January 16, 2014; 10.1038/gim.2013.201 Abstract | Full Text
Letter to the Editor		Top
Loeys–Dietz syndrome is a specific phenotype and not a concomitant of any mutation in a gene involved in TGF-β signaling Reed Pyeritz, Guillaume Jondeau, Rocio Moran, Julie De Backer, Eloisa Arbustini, Anne De Paepe and Dianna Milewicz ; for the Montalcino Aortic Consortium Genet Med 2014 16: 641-642; 10.1038/gim.2014.63 Full Text
Response to Pyeritz et al. Gretchen MacCarrick, Bart Loeys and Harry C. Dietz, III Genet Med 2014 16: 642-644; 10.1038/gim.2014.59 Full Text
Michael J. Fox Foundation LRRK2 Consortium: geographical differences in returning genetic research data to study participants Roy N. Alcalay, Jan Aasly, Daniela Berg, Susan Bressman, Alexis Brice, Kathrin Brockmann, Piu Chan, Lorraine Clark, Florence Cormier, Jean-Christophe Corvol, Alexandra Durr, Maurizio Facheris, Matthew Farrer, Tatiana M. Foroud, Thomas Gasser, Nir Giladi, Cheryl Halter, Anthony Lang, J. William Langston, Connie Marras, Jose-Felix Marti-Masso, Javier Ruiz Martinez, Helen Mejia-Santana, Anat Mirelman, Claustre Pont-Sunyer, Avi Orr-Urtreger, Deborah Raymond, Rachel Saunders-Pullman, Birgitt Schüle, Caroline Tanner, Eduardo Tolosa, Alison Urkowitz, Dolores Vilas, Adina Wise and Karen Marder Genet Med 2014 16: 644-645; 10.1038/gim.2014.55 Full Text

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 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. © 2014 Nature Publishing Group, a division of Macmillan Publishers Limited. All Rights Reserved.