ADVANCE ONLINE PUBLICATION

The latest research papers, published online ahead of print. These online versions are definitive and may be cited using the digital object identifier (DOI).
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May 25 2017

Original Research Article

A quantitative cSMART assay for noninvasive prenatal screening of autosomal recessive nonsyndromic hearing loss caused by GJB2 and SLC26A4 mutations

Mingyu Han, Zhifeng Li, Wenlu Wang, Shasha Huang, Yanping Lu, Zhiying Gao, Longxia Wang, Dongyang Kang, Linwei Li, Yiqian Liu, Mengnan Xu, David S Cram PhD and Pu Dai

Genet Med advance online publication, May 25, 2017; doi:10.1038/gim.2017.54

Brief Report

Revisiting the prevalence of nonclassic congenital adrenal hyperplasia in US Ashkenazi Jews and Caucasians Open

Fady Hannah-Shmouni, Rachel Morissette, Ninet Sinaii, Meredith Elman, Toni R Prezant, Wuyan Chen, Ann Pulver and Deborah P Merke

Genet Med advance online publication, May 25, 2017; doi:10.1038/gim.2017.46

Original Research Article

Do the data really support ordering fragile X testing as a first-tier test without clinical features? Open

Veronique Weinstein, Pranoot Tanpaiboon, Kimberly A Chapman, Nicholas Ah Mew and Sean Hofherr

Genet Med advance online publication, May 25, 2017; doi:10.1038/gim.2017.64

Review

Sharing data under the 21st Century Cures Act

Mary A Majumder, Christi J Guerrini, Juli M Bollinger, Robert Cook-Deegan and Amy L McGuire

Genet Med advance online publication, May 25, 2017; doi:10.1038/gim.2017.59

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May 18 2017

Original Research Articles

Population-based impact of noninvasive prenatal screening on screening and diagnostic testing for fetal aneuploidy

Lisa Hui, Briohny Hutchinson, Alice Poulton and Jane Halliday

Genet Med advance online publication, May 18, 2017; doi:10.1038/gim.2017.55

Prenatal exome sequencing in anomalous fetuses: new opportunities and challenges

Neeta L Vora, Bradford Powell, Alicia Brandt, Natasha Strande, Emily Hardisty, Kelly Gilmore, Ann Katherine M Foreman, Kirk Wilhelmsen, Chris Bizon, Jason Reilly, Phil Owen, Cynthia M Powell, Debra Skinner, Christine Rini, Anne D Lyerly, Kim A Boggess, Karen Weck, Jonathan S Berg and James P Evans

Genet Med advance online publication, May 18, 2017; doi:10.1038/gim.2017.33

Using high-resolution variant frequencies to empower clinical genome interpretation Open

Nicola Whiffin, Eric Minikel, Roddy Walsh, Anne H O’Donnell-Luria, Konrad Karczewski, Alexander Y Ing, Paul J R Barton, Birgit Funke, Stuart A Cook, Daniel MacArthur and James S Ware

Genet Med advance online publication, May 18, 2017; doi:10.1038/gim.2017.26

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May 11 2017

Original Research Articles

Gene patents still alive and kicking: their impact on provision of genetic testing for long QT syndrome in the Canadian public health-care system Open

Sarah E Ali-Khan and E Richard Gold

Genet Med advance online publication, May 11, 2017; doi:10.1038/gim.2017.43

Quantifying family dissemination and identifying barriers to communication of risk information in Australian BRCA families

Emma Healey, Natalie Taylor, Sian Greening, Claire E Wakefield, Linda Warwick, Rachel Williams and Kathy Tucker

Genet Med advance online publication, May 11, 2017; doi:10.1038/gim.2017.52

Sherloc: a comprehensive refinement of the ACMG–AMP variant classification criteria Open

Keith Nykamp, Michael Anderson, Martin Powers, John Garcia, Blanca Herrera, Yuan-Yuan Ho, Yuya Kobayashi, Nila Patil, Janita Thusberg, Marjorie Westbrook and Scott Topper

Genet Med advance online publication, May 11, 2017; doi:10.1038/gim.2017.37

Letters to the Editor

Response to de Vries et al.  FREE

Mrudu Herbert, Zoheb B Kazi, Susan Richards, Amy S Rosenberg and Priya S Kishnani

Genet Med advance online publication, May 11, 2017; doi:10.1038/gim.2017.48

Improving the evaluation of milestones for students completing a clinical genetics elective FREE

Paul Laissue, Carlos M Restrepo and Angela María Ortiz

Genet Med advance online publication, May 11, 2017; doi:10.1038/gim.2017.62

Response to Laissue et al.  FREE

Katharine Press and Joann Bodurtha

Genet Med advance online publication, May 11, 2017; doi:10.1038/gim.2017.63

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May 4 2017

Original Research Article

Genomic sequencing in cystic fibrosis newborn screening: what works best, two-tier predefined CFTR mutation panels or second-tier CFTR panel followed by third-tier sequencing?

Robert J Currier, Stan Sciortino, Ruiling Liu, Tracey Bishop, Rasoul Alikhani Koupaei and Lisa Feuchtbaum

Genet Med advance online publication, May 4, 2017; doi:10.1038/gim.2017.32

Original Research Article

Electronic health record phenotype in subjects with genetic variants associated with arrhythmogenic right ventricular cardiomyopathy: a study of 30,716 subjects with exome sequencing

Christopher M Haggerty, Cynthia A James, Hugh Calkins, Crystal Tichnell, Joseph B Leader, Dustin N Hartzel, Christopher D Nevius, Sarah A Pendergrass, Thomas N Person, Marci Schwartz, Marylyn D Ritchie, David J Carey, David H Ledbetter, Marc S Williams, Frederick E Dewey, Alexander Lopez, John Penn, John D Overton, Jeffrey G Reid, Matthew Lebo, Heather Mason-Suares, Christina Austin-Tse, Heidi L Rehm, Brian P Delisle, Daniel J Makowski, Vishal C Mehra, Michael F Murray and Brandon K Fornwalt

Genet Med advance online publication, May 4, 2017; doi:10.1038/gim.2017.40

Original Research Article

The clinical spectrum and natural history of early-onset diseases due to DNA polymerase gamma mutations

Omar Hikmat, Charalampos Tzoulis, Wui K Chong, Latifa Chentouf, Claus Klingenberg, Carl Fratter, Lucinda J Carr, Prab Prabhakar, Nandhini Kumaraguru, Paul Gissen, J Helen Cross, Thomas S Jacques, Jan-Willem Taanman, Laurence A Bindoff and Shamima Rahman

Genet Med advance online publication, May 4, 2017; doi:10.1038/gim.2017.35

Original Research Articles

A novel approach in pediatric telegenetic services: geneticist, pediatrician and genetic counselor team Open

Shobana Kubendran, Siddharthan Sivamurthy and Gerald Bradley Schaefer

Genet Med advance online publication, May 4, 2017; doi:10.1038/gim.2017.45

Assessment of the ExAC data set for the presence of individuals with pathogenic genotypes implicated in severe Mendelian pediatric disorders Open

Maja Tarailo-Graovac, Jing Yun Alice Zhu, Allison Matthews, Clara D M van Karnebeek and Wyeth W Wasserman

Genet Med advance online publication, May 4, 2017; doi:10.1038/gim.2017.50

A microcosting and cost–consequence analysis of clinical genomic testing strategies in autism spectrum disorder

Kate Tsiplova, Richard M Zur, Christian R Marshall, Dimitri J Stavropoulos, Sergio L Pereira, Daniele Merico, Edwin J Young, Wilson W L Sung, Stephen W Scherer and Wendy J Ungar

Genet Med advance online publication, May 4, 2017; doi:10.1038/gim.2017.47

Identifying “ownership” through role descriptions to support implementing universal colorectal cancer tumor screening for Lynch syndrome

Kathleen M West, Wylie Burke and Diane M Korngiebel

Genet Med advance online publication, May 4, 2017; doi:10.1038/gim.2017.39

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April 20 2017

Original Research Article

Whole-exome sequencing on deceased fetuses with ultrasound anomalies: expanding our knowledge of genetic disease during fetal development

Carin L Yates, Kristin G Monaghan, Deborah Copenheaver, Kyle Retterer, Julie Scuffins, Cathlin R Kucera, Bethany Friedman, Gabriele Richard and Jane Juusola

Genet Med advance online publication, April 20, 2017; doi:10.1038/gim.2017.31

CDH1 germline mutations: different syndromes, same management?

Patrick R Benusiglio

Genet Med advance online publication, April 20, 2017; doi:10.1038/gim.2017.24

Possible barriers for genetic counselors returning actionable genetic research results across state lines

Megan C Roberts, Elisabeth M Wood, Jill Bennett Gaieski and Angela R Bradbury

Genet Med advance online publication, April 20, 2017; doi:10.1038/gim.2017.34

Letter to the Editor

Addressing a patient-controlled approach for genomic data sharing FREE

Katherine E Miller and Simon M Lin

Genet Med advance online publication, April 20, 2017; doi:10.1038/gim.2017.36

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April 13 2017

Special Article

Consensus recommendation for a diagnostic guideline for acid sphingomyelinase deficiency Open

Margaret M. McGovern MD, PhD, Carlo Dionisi-Vici MD, Roberto Giugliani MD, PhD, Paul Hwu MD, PhD, Olivier Lidove MD, Zoltan Lukacs PhD, Karl Eugen Mengel MD, Pramod K. Mistry MD, PhD, Edward H. Schuchman PhD and Melissa P. Wasserstein MD

Genet Med advance online publication, April 13, 2017; doi:10.1038/gim.2017.7

Review

Making genomic medicine evidence-based and patient-centered: a structured review and landscape analysis of comparative effectiveness research Open

Kathryn A. Phillips PhD, Patricia A. Deverka MD, MS, Harold C. Sox MD, Muin J. Khoury MD, PhD, Lewis G. Sandy MD, FACP, Geoffrey S. Ginsburg MD, PhD, Sean R. Tunis MD, MSc, Lori A. Orlando MD, MHS and Michael P. Douglas MS

Genet Med advance online publication, April 13, 2017; doi:10.1038/gim.2017.21

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April 6 2017

Brief Report

Mutation of WIF1: a potential novel cause of a Nail-Patella-like disorder Open

Marilyn C. Jones MD, Sarah E. Topol RN, Manuel Rueda PhD, Glenn Oliveira BS, Tierney Phillips BA, Emily G. Spencer PhD and Ali Torkamani PhD

Genet Med advance online publication, April 6, 2017; doi:10.1038/gim.2017.20

Education Report

The collaborative African genomics network training program: a trainee perspective on training the next generation of African scientists Open

Busisiwe C. Mlotshwa MSc, Savannah Mwesigwa MSc, Gerald Mboowa MSc, Lesedi Williams MSc, Gaone Retshabile MSc, Adeodata Kekitiinwa MBChB, MMed, Misaki Wayengera MBChB, MSc, Samuel Kyobe MBChB, MMed, Chester W. Brown MD, PhD, Neil A. Hanchard MBBS, PhD, Graeme Mardon PhD, Moses Joloba MBChB, PhD, Gabriel Anabwani MBChB, MMed and Sununguko W. Mpoloka PhD

Genet Med advance online publication, April 6, 2017; doi:10.1038/gim.2016.177

Original Research Articles

Autozygosity reveals recessive mutations and novel mechanisms in dominant genes: implications in variant interpretation

Dorota Monies PhD, Sateesh Maddirevula PhD, Wesam Kurdi MD, Mohammed H. Alanazy MD, Hisham Alkhalidi MD, Mohammed Al-Owain MD, Raashda A. Sulaiman MD, Eissa Faqeih MD, Ewa Goljan , MPharm, Niema Ibrahim BSc, Firdous Abdulwahab BSc, Mais Hashem BSc, Mohamed Abouelhoda PhD, Ranad Shaheen PhD, Stefan T. Arold PhD and Fowzan S. Alkuraya MD

Genet Med advance online publication, April 6, 2017; doi:10.1038/gim.2017.22

Mosaic trisomy 16: what are the obstetric and long-term childhood outcomes?

Teresa N. Sparks MD, Kao Thao BA and Mary E. Norton MD

Genet Med advance online publication, April 6, 2017; doi:10.1038/gim.2017.23

Quantitative clinical characteristics of 53 patients with MPS VII: a cross-sectional analysis

Matthias Zielonka MD, Sven F. Garbade PhD, Stefan Kölker MD, Georg F. Hoffmann MD and Markus Ries MD, PhD

Genet Med advance online publication, April 6, 2017; doi:10.1038/gim.2017.10

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March 23 2017

Original Research Articles

Exome sequencing–based molecular autopsy of formalin-fixed paraffin-embedded tissue after sudden death

Richard D. Bagnall PhD, Jodie Ingles MPH, PhD, Laura Yeates BSc, Samuel F. Berkovic MD and Christopher Semsarian MBBS, PhD

Genet Med advance online publication, March 23, 2017; doi:10.1038/gim.2017.15

21-Gene recurrence score testing among Medicare beneficiaries with breast cancer in 2010–2013

Julie A. Lynch PhD, RN, Brygida Berse PhD, Nicole Coomer PhD and John Kautter PhD

Genet Med advance online publication, March 23, 2017; doi:10.1038/gim.2017.19

Genetic susceptibility to bilateral tinnitus in a Swedish twin cohort Open

Iris Lianne Maas MSc, Petra Brüggemann PhD, Teresa Requena PhD, Jan Bulla PhD, Niklas K. Edvall MSc, Jacob v.B. Hjelmborg PhD, Agnieszka J. Szczepek PhD, Barbara Canlon PhD, Birgit Mazurek MD, PhD, Jose A. Lopez-Escamez MD, PhD and Christopher R. Cederroth PhD

Genet Med advance online publication, March 23, 2017; doi:10.1038/gim.2017.4

A clinical utility study of exome sequencing versus conventional genetic testing in pediatric neurology Open

Lisenka E.L.M. Vissers PhD, Kirsten J.M. van Nimwegen MSc, Jolanda H. Schieving MD, Erik-Jan Kamsteeg PhD, Tjitske Kleefstra MD, PhD, Helger G. Yntema PhD, Rolph Pfundt PhD, Gert Jan van der Wilt PhD, Lotte Krabbenborg PhD, Han G. Brunner MD, PhD, Simone van der Burg PhD, Janneke Grutters PhD, Joris A. Veltman PhD and Michèl A.A.P. Willemsen MD, PhD

Genet Med advance online publication, March 23, 2017; doi:10.1038/gim.2017.1

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March 16 2017

Original Research Articles

Exploring the feasibility of delivering standardized genomic care using ophthalmology as an example

Niall Davison MSc, Katherine Payne MSc, PhD, Martin Eden MSc, Marion McAllister PhD, Stephen A. Roberts PhD, Stuart Ingram MSc, Graeme C.M. Black FRCOphth, DPhil and Georgina Hall MSc

Genet Med advance online publication, March 16, 2017; doi:10.1038/gim.2017.9

Blepharocheilodontic syndrome is a CDH1 pathway–related disorder due to mutations in CDH1 and CTNND1

Jamal Ghoumid MD, PhD, Morgane Stichelbout, Anne-Sophie Jourdain, Frederic Frenois PhD, Sophie Lejeune-Dumoulin MD, Marie-Pierre Alex-Cordier MD, Marine Lebrun MD, Pierre Guerreschi MD, PhD, Veronique Duquennoy-Martinot MD, PhD, Matthieu Vinchon MD, PhD, Joel Ferri MD, PhD, Matthieu Jung PhD, Serge Vicaire, Clemence Vanlerberghe MD, Fabienne Escande PharmD, PhD, Florence Petit MD, PhD and Sylvie Manouvrier-Hanu MD, PhD

Genet Med advance online publication, March 16, 2017; doi:10.1038/gim.2017.11

Clinical laboratories collaborate to resolve differences in variant interpretations submitted to ClinVar

Steven M. Harrison PhD, Jill S. Dolinsky MS, Amy E. Knight Johnson MS, Tina Pesaran MA, MS, Danielle R. Azzariti MS, Sherri Bale PhD, Elizabeth C. Chao MD, Soma Das PhD, Lisa Vincent PhD and Heidi L. Rehm PhD

Genet Med advance online publication, March 16, 2017; doi:10.1038/gim.2017.14

The psychosocial effects of the Li-Fraumeni Education and Early Detection (LEAD) program on individuals with Li-Fraumeni syndrome

Jessica Ross MS, CGC, Jasmina Bojadzieva MS, Susan Peterson PhD, MPH, Sarah Jane Noblin MS, CGC, Rebecca Yzquierdo BSocSci, Martha Askins PhD and Louise Strong MD

Genet Med advance online publication, March 16, 2017; doi:10.1038/gim.2017.8

Prediction of breast cancer risk based on flow-variant analysis of circulating peripheral blood B cells

Mahrukh M. Syeda MS, Kinnari Upadhyay MS, Johnny Loke MS, Alexander Pearlman PhD, Susan Klugman MD, Yongzhao Shao PhD and Harry Ostrer MD

Genet Med advance online publication, March 16, 2017; doi:10.1038/gim.2016.222

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March 2 2017

Original Research Article

The Exome Clinic and the role of medical genetics expertise in the interpretation of exome sequencing results

Dustin Baldridge MD, PhD, Jennifer Heeley MD, Marisa Vineyard MS, CGC, Linda Manwaring MS, CGC, Tomi L. Toler MS, CGC, Emily Fassi MS, CGC, Elise Fiala MS, CGC, Sarah Brown PhD, Charles W. Goss PhD, Marcia Willing MD, PhD, Dorothy K. Grange MD, Beth A. Kozel MD, PhD and Marwan Shinawi MD

Genet Med advance online publication, March 2, 2017; doi:10.1038/gim.2016.224

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February 16 2017

Original Research Article

A familial study of azoospermic men identifies three novel causative mutations in three new human azoospermia genes

Moran Gershoni PhD, Ron Hauser MD, Leah Yogev PhD, Ofer Lehavi MD, Foad Azem MD, Haim Yavetz MD, Shmuel Pietrokovski PhD and Sandra E. Kleiman PhD

Genet Med advance online publication, February 16, 2017; doi:10.1038/gim.2016.225

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February 2 2017

Original Research Articles

Efficacy of early treatment in patients with cobalamin C disease identified by newborn screening: a 16-year experience

Rebecca C. Ahrens-Nicklas MD, PhD, Ashley M. Whitaker PhD, Paige Kaplan MD, Sanmati Cuddapah MD, Jessica Burfield RD, Jennifer Blair RD, Ligia Brochi RD, Marc Yudkoff MD and Can Ficicioglu MD, PhD

Genet Med advance online publication, February 2, 2017; doi:10.1038/gim.2016.214

Clinical and molecular consequences of disease-associated de novo mutations in SATB2  Open

Hemant Bengani, Mark Handley, Mohsan Alvi, Rita Ibitoye, Melissa Lees, Sally Ann Lynch, Wayne Lam, Madeleine Fannemel, Ann Nordgren, H. Malmgren, M. Kvarnung, Sarju Mehta, Shane McKee, Margo Whiteford, Fiona Stewart, Fiona Connell, Jill Clayton-Smith, Sahar Mansour, Shehla Mohammed, Alan Fryer, Jenny Morton, UK10K Consortium, Detelina Grozeva, Tara Asam, David Moore, Alejandro Sifrim, Jeremy McRae, Matthew E. Hurles, Helen V. Firth, F. Lucy Raymond, Usha Kini, Christoffer Nellåker,  DDD study and David R. FitzPatrick

Genet Med advance online publication, February 2, 2017; doi:10.1038/gim.2016.211

Molecular diagnosis of PIK3CA-related overgrowth spectrum (PROS) in 162 patients and recommendations for genetic testing

Paul Kuentz MD, Judith St-Onge DEC, Yannis Duffourd MSc, Jean-Benoît Courcet MD, Virginie Carmignac PhD, Thibaud Jouan BSc, Arthur Sorlin MD, Claire Abasq-Thomas MD, Juliette Albuisson MD, PhD, Jeanne Amiel MD, PhD, Daniel Amram MD, Stéphanie Arpin MD, Tania Attie-Bitach MD, PhD, Nadia Bahi-Buisson MD, PhD, Sébastien Barbarot MD, PhD, Geneviève Baujat MD, Didier Bessis MD, Olivia Boccara MD, Maryse Bonnière MD, Odile Boute MD, Anne-Claire Bursztejn MD, PhD, Christine Chiaverini MD, PhD, Valérie Cormier-Daire MD, PhD, Christine Coubes MD, Bruno Delobel MD, Patrick Edery MD, PhD, Salima El Chehadeh MD, Christine Francannet MD, David Geneviève MD, PhD, Alice Goldenberg MD, Damien Haye MD, Bertrand Isidor MD, PhD, Marie-Line Jacquemont MD, Philippe Khau Van Kien MD, PhD, Didier Lacombe MD, PhD, Ludovic Martin MD, PhD, Jelena Martinovic MD, Annabel Maruani MD, PhD, Michèle Mathieu-Dramard MD, Juliette Mazereeuw-Hautier MD, PhD, Caroline Michot MD, PhD, Cyril Mignot MD, PhD, Juliette Miquel MD, Fanny Morice-Picard MD, PhD, Florence Petit MD, PhD, Alice Phan MD, PhD, Massimiliano Rossi MD, PhD, Renaud Touraine MD, PhD, Alain Verloes MD, PhD, Marie Vincent MD, Catherine Vincent-Delorme MD, Sandra Whalen MD, Marjolaine Willems MD, Nathalie Marle MD, Daphné Lehalle MD, Julien Thevenon MD, PhD, Christel Thauvin-Robinet MD, PhD, Smaïl Hadj-Rabia MD, PhD, Laurence Faivre MD, PhD, Pierre Vabres MD, PhD and Jean-Baptiste Rivière PhD

Genet Med advance online publication, February 2, 2017; doi:10.1038/gim.2016.220

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January 26 2017

ACMG Statement

Genome editing in clinical genetics: points to consider—a statement of the American College of Medical Genetics and Genomics FREE

 ACMG Board of Directors

Genet Med advance online publication, January 26, 2017; doi:10.1038/gim.2016.195

Brief Reports

Frequent inactivating germline mutations in DNA repair genes in patients with Ewing sarcoma

Andrew S. Brohl MD, Rajesh Patidar MS, Clesson E. Turner MD, Xinyu Wen MS, Young K. Song PhD, Jun S. Wei PhD, Kathleen A. Calzone PhD and Javed Khan MD

Genet Med advance online publication, January 26, 2017; doi:10.1038/gim.2016.206

Motivations of participants in the citizen science of microbiomics: data from the British Gut Project

Lorenzo Del Savio, Barbara Prainsack and Alena Buyx

Genet Med advance online publication, January 26, 2017; doi:10.1038/gim.2016.208

Special Article

Cognitive outcomes and age of detection of severe mucopolysaccharidosis type 1

Scott D. Grosse PhD, Wendy K.K. Lam PhD, Lisa D. Wiggins PhD and Alex R. Kemper MD, MPH

Genet Med advance online publication, January 26, 2017; doi:10.1038/gim.2016.223

Commentary

Conflicts of interest in genetic counseling: acknowledging and accepting

Katie A. Stoll MS, CGC, Amanda Mackison MPP, Megan A. Allyse PhD and Marsha Michie PhD

Genet Med advance online publication, January 26, 2017; doi:10.1038/gim.2016.216

Original Research Articles

Recontacting participants for expanded uses of existing samples and data: a case study

Stephanie C. Chen BA, Benjamin E. Berkman JD, MPH and Sara Chandros Hull PhD

Genet Med advance online publication, January 26, 2017; doi:10.1038/gim.2016.207

GUCA1A mutation causes maculopathy in a five-generation family with a wide spectrum of severity Open

Xue Chen MD, PhD, Xunlun Sheng MD, PhD, Wenjuan Zhuang MD, PhD, Xiantao Sun MD, Guohua Liu MD, Xun Shi MD, Guofu Huang MD, Yan Mei MD, Yingjie Li MD, Xinyuan Pan MSc, Yani Liu MD, Zili Li MD, Qingshun Zhao PhD, Biao Yan PhD and Chen Zhao MD, PhD

Genet Med advance online publication, January 26, 2017; doi:10.1038/gim.2016.217

The next generation of population-based spinal muscular atrophy carrier screening: comprehensive pan-ethnic SMN1 copy-number and sequence variant analysis by massively parallel sequencing

Yanming Feng PhD, Xiaoyan Ge PhD, Linyan Meng PhD, Jennifer Scull PhD, Jianli Li PhD, Xia Tian PhD, Tao Zhang PhD, Weihong Jin PhD, Hanyin Cheng PhD, Xia Wang PhD, Mari Tokita MD, Pengfei Liu PhD, Hui Mei PhD, Yue Wang PhD, Fangyuan Li MD, PhD, Eric S. Schmitt PhD, Wei V. Zhang PhD, Donna Muzny MS, Shu Wen PhD, Zhao Chen PhD, Yaping Yang PhD, Arthur L. Beaudet MD, Xiaoming Liu PhD, Christine M. Eng MD, Fan Xia PhD, Lee-Jun Wong PhD and Jinglan Zhang PhD

Genet Med advance online publication, January 26, 2017; doi:10.1038/gim.2016.215

Assigning clinical meaning to somatic and germ-line whole-exome sequencing data in a prospective cancer precision medicine study

Arezou A. Ghazani PhD, Nelly M. Oliver PhD, Joseph P. St. Pierre, Andrea Garofalo, Irene R. Rainville MS, PhD, Elaine Hiller MS, Daniel J. Treacy, Vanesa Rojas-Rudilla MS, Sam Wood, Elizabeth Bair, Michael Parello, Franklin Huang MD, PhD, Marios Giannakis MD, PhD, Frederick H. Wilson MD, PhD, Elizabeth H. Stover MD, PhD, Steven M. Corsello MD, Tom Nguyen, Huma Q. Rana MD, Alanna J. Church MsC, MD, Carol Lowenstein MBA, Carrie Cibulskis, Ali Amin-Mansour MS, Jennifer Heng, Lauren Brais MPH, Abigail Santos MS, Patrick Bauer, Amanda Waldron, Peter Lo, Megan Gorman, Christine A. Lydon, Marisa Welch, Philip McNamara, Stacey Gabriel PhD, Lynette M. Sholl MD, Neal I. Lindeman MD, Judy E. Garber MD, Steven Joffe MD, MPH, Eliezer M. Van Allen MD, Stacy W. Gray MD, Pasi A. Ja╠łnne MD, PhD, Levi A. Garraway MD, PhD and Nikhil Wagle MD

Genet Med advance online publication, January 26, 2017; doi:10.1038/gim.2016.191

Next-generation sequencing improves thalassemia carrier screening among premarital adults in a high prevalence population: the Dai nationality, China

Jing He MS, Wenhui Song PhD, Jinlong Yang BS, Sen Lu PhD, Yuan Yuan MS, Junfu Guo MS, Jie Zhang PhD, Kai Ye BS, Fan Yang BS, Fangfang Long MS, Zhiyu Peng PhD, Haijing Yu PhD, Le Cheng PhD and Baosheng Zhu MS

Genet Med advance online publication, January 26, 2017; doi:10.1038/gim.2016.218

Utilization of genetic tests: analysis of gene-specific billing in Medicare claims data

Julie A. Lynch PhD, RN, Brygida Berse PhD, W. David Dotson PhD, Muin J. Khoury MD, PhD, Nicole Coomer PhD and John Kautter PhD

Genet Med advance online publication, January 26, 2017; doi:10.1038/gim.2016.209

Prospective comparison of the cost-effectiveness of clinical whole-exome sequencing with that of usual care overwhelmingly supports early use and reimbursement

Zornitza Stark MD, Deborah Schofield PhD, Khurshid Alam PhD, William Wilson PhD, Nessie Mupfeki MHIM, Ivan Macciocca MHSc, Rupendra Shrestha PhD, Susan M. White MD and Clara Gaff PhD

Genet Med advance online publication, January 26, 2017; doi:10.1038/gim.2016.221

Promoting appropriate genetic testing: the impact of a combined test review and consultative service

Carlos J. Suarez MD, Linbo Yu MS, Natalie Downs MS, Helio A. Costa PhD and David A. Stevenson MD

Genet Med advance online publication, January 26, 2017; doi:10.1038/gim.2016.219

Molecular genetic findings and clinical correlations in 100 patients with Joubert syndrome and related disorders prospectively evaluated at a single center

Thierry Vilboux PhD, Daniel A. Doherty MD, PhD, Ian A. Glass MB, ChB, MD, Melissa A. Parisi MD, PhD, Ian G. Phelps BS, Andrew R. Cullinane PhD, Wadih Zein MD, Brian P. Brooks MD, PhD, Theo Heller MD, Ariane Soldatos MD, Neal L. Oden PhD, Deniz Yildirimli MD, Meghana Vemulapalli MsC, James C. Mullikin PhD,  NISC Comparative Sequencing Program, May Christine V. Malicdan MD, PhD, William A. Gahl MD, PhD and Meral Gunay-Aygun MD

Genet Med advance online publication, January 26, 2017; doi:10.1038/gim.2016.204

Review

Carnitine palmitoyltransferase 1A P479L and infant death: policy implications of emerging data

Alison E. Fohner PhD, Nanibaa’ A. Garrison PhD, Melissa A. Austin PhD and Wylie Burke MD, PhD

Genet Med advance online publication, January 26, 2017; doi:10.1038/gim.2016.202

Top

January 19 2017

Original Research Articles

A taxonomy of medical uncertainties in clinical genome sequencing

Paul K.J. Han MD, MPH, Kendall L. Umstead MS, Barbara A. Bernhardt MS, Robert C. Green MD, MPH, Steven Joffe MD, MPH, Barbara Koenig PhD, Ian Krantz MD, Leo B. Waterston MA, Leslie G. Biesecker MD and Barbara B. Biesecker PhD

Genet Med advance online publication, January 19, 2017; doi:10.1038/gim.2016.212

Mutation spectrum in the ABCC6 gene and genotype–phenotype correlations in a French cohort with pseudoxanthoma elasticum

Anne Legrand PharmD, Laurence Cornez PhD, Wafa Samkari MD, Jean-Michael Mazzella, Annabelle Venisse, Valérie Boccio, Karine Auribault PhD, Boris Keren MD, PhD, Karelle Benistan MD, Dominique P. Germain MD, PhD, Michael Frank MD, Xavier Jeunemaitre MD, PhD and Juliette Albuisson MD, PhD

Genet Med advance online publication, January 19, 2017; doi:10.1038/gim.2016.213

Clinical utility of next-generation sequencing for inherited bone marrow failure syndromes

Hideki Muramatsu MD, PhD, Yusuke Okuno MD, PhD, Kenichi Yoshida MD, PhD, Yuichi Shiraishi PhD, Sayoko Doisaki MD, PhD, Atsushi Narita MD, PhD, Hirotoshi Sakaguchi MD, PhD, Nozomu Kawashima MD, PhD, Xinan Wang MD, PhD, Yinyan Xu MD, PhD, Kenichi Chiba PhD, Hiroko Tanaka PhD, Asahito Hama MD, PhD, Masashi Sanada MD, PhD, Yoshiyuki Takahashi MD, PhD, Hitoshi Kanno MD, PhD, Hiroki Yamaguchi MD, PhD, Shouichi Ohga MD, PhD, Atsushi Manabe MD, PhD, Hideo Harigae MD, PhD, Shinji Kunishima PhD, Eiichi Ishii MD, PhD, Masao Kobayashi MD, PhD, Kenichi Koike MD, PhD, Kenichiro Watanabe MD, PhD, Etsuro Ito MD, PhD, Minoru Takata MD, PhD, Miharu Yabe MD, PhD, Seishi Ogawa MD, PhD, Satoru Miyano PhD and Seiji Kojima MD, PhD

Genet Med advance online publication, January 19, 2017; doi:10.1038/gim.2016.197

Review

Transthyretin V122I (pV142I)* cardiac amyloidosis: an age-dependent autosomal dominant cardiomyopathy too common to be overlooked as a cause of significant heart disease in elderly African Americans

Joel N. Buxbaum MD and Frederick L. Ruberg MD

Genet Med advance online publication, January 19, 2017; doi:10.1038/gim.2016.200

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January 12 2017

Brief Report

PhenX measures for phenotyping rare genetic conditions

Michael Phillips MS, Tracey Grant MS, Philip Giampietro MD, PhD, Joann Bodurtha MD, MPH, Rodolfo Valdez PhD, Deborah R. Maiese MPA, Tabitha Hendershot BA, Sharon F. Terry MA and Carol M. Hamilton PhD

Genet Med advance online publication, January 12, 2017; doi:10.1038/gim.2016.199

Systematic Review

The current state of implementation science in genomic medicine: opportunities for improvement

Megan C. Roberts PhD, Amy E. Kennedy PhD, MPH, David A. Chambers DPhil and Muin J. Khoury MD, PhD

Genet Med advance online publication, January 12, 2017; doi:10.1038/gim.2016.210

Original Research Articles

A curated gene list for reporting results of newborn genomic sequencing

Ozge Ceyhan-Birsoy PhD, Kalotina Machini PhD, Matthew S. Lebo PhD, Tim W. Yu MD, Pankaj B. Agrawal MD, MMSC, Richard B. Parad MD, MPH, Ingrid A. Holm MD, MPH, Amy McGuire PhD, Robert C. Green MD, MPH, Alan H. Beggs PhD and Heidi L. Rehm PhD ; for the BabySeq Project

Genet Med advance online publication, January 12, 2017; doi:10.1038/gim.2016.193

Genome sequencing and carrier testing: decisions on categorization and whether to disclose results of carrier testing Open

Patricia Himes MS, Tia L. Kauffman MPH, Kristin R. Muessig MS, Laura M. Amendola MS, Jonathan S. Berg MD, PhD, Michael O. Dorschner PhD, Marian Gilmore MS, Deborah A. Nickerson PhD, Jacob A. Reiss MD, C. Sue Richards PhD, Alan F. Rope MD, Dana K. Simpson MD, Benjamin S. Wilfond MD, Gail P. Jarvik MD, PhD and Katrina A.B. Goddard PhD

Genet Med advance online publication, January 12, 2017; doi:10.1038/gim.2016.198

The clinical utility of DNA-based screening for fetal aneuploidy by primary obstetrical care providers in the general pregnancy population Open

Glenn E. Palomaki PhD, Edward M. Kloza MS, CGC, Barbara M. O’Brien MD, Elizabeth E. Eklund MS and Geralyn M. Lambert-Messerlian PhD

Genet Med advance online publication, January 12, 2017; doi:10.1038/gim.2016.194

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January 5 2017

ACMG Statement

Laboratory and clinical genomic data sharing is crucial to improving genetic health care: a position statement of the American College of Medical Genetics and Genomics FREE

 ACMG Board of Directors

Genet Med advance online publication, January 5, 2017; doi:10.1038/gim.2016.196

Original Research Article

Participant-perceived understanding and perspectives on pharmacogenomics: the Mayo Clinic RIGHT protocol (Right Drug, Right Dose, Right Time)

Janet E. Olson PhD, Carolyn R. Rohrer Vitek MS, Elizabeth J. Bell MPH, PhD, Michaela E. McGree BS, Debra J. Jacobson MS, Jennifer L. St. Sauver PhD, Pedro J. Caraballo MD, Joan M. Griffin PhD, Veronique L. Roger MD and Suzette J. Bielinski PhD

Genet Med advance online publication, January 5, 2017; doi:10.1038/gim.2016.192

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December 15 2016

Special Article

Public variant databases: liability? Open

Adrian Thorogood BCL, LLB, Robert Cook-Deegan MD and Bartha Maria Knoppers PhD

Genet Med advance online publication, December 15, 2016; doi:10.1038/gim.2016.189

Original Research Article

The value of genetic testing: beyond clinical utility

Barbara Lerner PhD, MS, Nell Marshall DrPH, Sabine Oishi PhD, MSPH, Andrew Lanto MS, Martin Lee PhD, Alison B. Hamilton PhD, MPH, Elizabeth M. Yano PhD, MSPH and Maren T. Scheuner MD, MPH

Genet Med advance online publication, December 15, 2016; doi:10.1038/gim.2016.186

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December 8 2016

Original Research Article

Population screening for BRCA1/BRCA2 founder mutations in Ashkenazi Jews: proactive recruitment compared with self-referral

Sari Lieberman MSc, Ariela Tomer MSc, Avi Ben-Chetrit MD, Oded Olsha MD, Shalom Strano MD, Rachel Beeri PhD, Sivan Koka MSc, Hila Fridman MSc, Karen Djemal MD, Itzhak Glick MD, Todd Zalut MD, Shlomo Segev MD, Miri Sklair MD, Bella Kaufman MD, Amnon Lahad MD, MPH, Aviad Raz PhD and Ephrat Levy-Lahad MD

Genet Med advance online publication, December 8, 2016; doi:10.1038/gim.2016.182

Review

The Precision Medicine Initiative’s All of Us Research Program: an agenda for research on its ethical, legal, and social issues

Pamela L. Sankar PhD and Lisa S. Parker PhD

Genet Med advance online publication, December 8, 2016; doi:10.1038/gim.2016.183

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December 1 2016

Original Research Articles

Microduplication of the ARID1A gene causes intellectual disability with recognizable syndromic features

Marie Bidart PharmD, PhD, Michèle El Atifi PhD, Sarra Miladi MS, John Rendu PharmD, PhD, Véronique Satre MD, PhD, Pierre F. Ray PhD, Caroline Bosson PharmD, Françoise Devillard MD, Daphné Lehalle MD, Valérie Malan MD, PhD, Jeanne Amiel MD, PhD, Maria Antonietta Mencarelli MD, PhD, Margherita Baldassarri MD, Alessandra Renieri MD, PhD, Jill Clayton-Smith MD, PhD, Gaëlle Vieville MS, Julien Thevenon MD, PhD, Florence Amblard MD, François Berger MD, PhD, Pierre-Simon Jouk MD, PhD and Charles Coutton PharmD, PhD

Genet Med advance online publication, December 1, 2016; doi:10.1038/gim.2016.180

Evaluating the quality of Marfan genotype–phenotype correlations in existing FBN1 databases

Kristian A. Groth, Yskert Von Kodolitsch, Kerstin Kutsche, Mette Gaustadnes, Kasper Thorsen, Niels H. Andersen and Claus H. Gravholt

Genet Med advance online publication, December 1, 2016; doi:10.1038/gim.2016.181

Population screening for BRCA1/BRCA2 mutations: lessons from qualitative analysis of the screening experience

Sari Lieberman MSc, Amnon Lahad MD, MPH, Ariela Tomer MSc, Carmit Cohen MHA, Ephrat Levy-Lahad MD and Aviad Raz PhD

Genet Med advance online publication, December 1, 2016; doi:10.1038/gim.2016.175

The cost of molecular-guided therapy in oncology: a prospective cost study alongside the MOSCATO trial

Arnaud Pagès PharmD, MSc, Stéphanie Foulon MD, MSc, Zhaomin Zou PhD, Ludovic Lacroix PharmD, PhD, François Lemare PharmD, PhD, Thierry de Baère MD, Christophe Massard MD, PhD, Jean-Charles Soria MD, PhD and Julia Bonastre PhD

Genet Med advance online publication, December 1, 2016; doi:10.1038/gim.2016.174

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November 17 2016

Original Research Article

Causes of death in Prader-Willi syndrome: Prader-Willi Syndrome Association (USA) 40-year mortality survey

Merlin G. Butler MD, PhD, Ann M. Manzardo PhD, Janalee Heinemann MSW, Carolyn Loker and James Loker MD

Genet Med advance online publication, November 17, 2016; doi:10.1038/gim.2016.178

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November 10 2016

Original Research Article

Neuroimaging findings in Mowat–Wilson syndrome: a study of 54 patients Open

Livia Garavelli MD, Ivan Ivanovski MD, Stefano Giuseppe Caraffi PhD, Daniela Santodirocco MD, Marzia Pollazzon MD, Duccio Maria Cordelli MD, Ebtesam Abdalla MD, PhD, Patrizia Accorsi MD, Margaret P. Adam MD, FACMG, Chiara Baldo PhD, Allan Bayat MD, Elga Belligni MD, Federico Bonvicini MD, Jeroen Breckpot MD, Bert Callewaert MD, PhD, Guido Cocchi MD, Goran Cuturilo MD, Koenraad Devriendt MD, PhD, Mary Beth Dinulos MD, Olivera Djuric MD, MSc, Roberta Epifanio MD, Francesca Faravelli MD, MSc, Debora Formisano, Lucio Giordano MD, Marina Grasso PhD, Sabine Grønborg MD, Alessandro Iodice MD, Lorenzo Iughetti MD, PhD, Didier Lacombe MD, Massimo Maggi MD, Baris Malbora MD, Isabella Mammi MD, Sebastien Moutton MD, Rikke Møller MD, PhD, Petra Muschke MD, Manuela Napoli MD, Chiara Pantaleoni MD, Rosario Pascarella MD, Alessandro Pellicciari MD, Maria Luisa Poch-Olive MD, Federico Raviglione MD, Francesca Rivieri MD, Carmela Russo MD, Salvatore Savasta MD, Gioacchino Scarano MD, Angelo Selicorni MD, Margherita Silengo MD, Giovanni Sorge MD, Luigi Tarani MD, Luis Gonzaga Tone MD, Annick Toutain MD, Aurelien Trimouille MD, Elvis Terci Valera MD, Samantha Schrier Vergano MD, Nicoletta Zanotta MD, Marcella Zollino MD, William B Dobyns MD and Alex R Paciorkowski MD

Genet Med advance online publication, November 10, 2016; doi:10.1038/gim.2016.176

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November 3 2016

Original Research Article

Evaluation of a Web-based decision aid for people considering the APOE genetic test for Alzheimer risk

Michael Ekstract BA, Golde I. Holtzman PhD, Kye Y. Kim MD, Susan M. Willis PhD and Doris T. Zallen PhD

Genet Med advance online publication, November 3, 2016; doi:10.1038/gim.2016.170

Review

β-Thalassemia

Raffaella Origa MD, PhD

Genet Med advance online publication, November 3, 2016; doi:10.1038/gim.2016.173

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October 27 2016

Brief Report

Ciliopathy variant burden and developmental delay in children with hypoplastic left heart syndrome

Gabrielle C. Geddes MD, Karl Stamm MS, Michael Mitchell MD, Kathleen A. Mussatto PhD, RN and Aoy Tomita-Mitchell PhD

Genet Med advance online publication, October 27, 2016; doi:10.1038/gim.2016.167

Commentary

Precision engagement: the PMI’s success will depend on more than genomes and big data

Jennifer K. Wagner JD, PhD, Cathryn Peltz-Rauchman PhD, Alanna Kulchak Rahm PhD, LGC and Christine C. Johnson PhD, MPH

Genet Med advance online publication, October 27, 2016; doi:10.1038/gim.2016.165

Original Research Article

Detection of clinically relevant copy-number variants by exome sequencing in a large cohort of genetic disorders Open

Rolph Pfundt PhD, Marisol del Rosario BSc, Lisenka E.L.M. Vissers PhD, Michael P. Kwint BSc, Irene M. Janssen BSc, Nicole de Leeuw PhD, Helger G. Yntema PhD, Marcel R. Nelen PhD, Dorien Lugtenberg PhD, Erik-Jan Kamsteeg PhD, Nienke Wieskamp BSc, Alexander P.A. Stegmann PhD, Servi J.C. Stevens PhD, Richard J.T. Rodenburg PhD, Annet Simons PhD, Arjen R. Mensenkamp PhD, Tuula Rinne PhD, Christian Gilissen PhD, Hans Scheffer PhD, Joris A. Veltman Prof. Dr and Jayne Y. Hehir-Kwa PhD

Genet Med advance online publication, October 27, 2016; doi:10.1038/gim.2016.163

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October 20 2016

Brief Report

Phenotypic predictors and final diagnoses in patients referred for RASopathy testing by targeted next-generation sequencing

Elizabeth J. Bhoj MD, PhD, Zhenming Yu PhD, Qiaoning Guan PhD, Rebecca Ahrens-Nicklas MD, PhD, Kajia Cao PhD, Minjie Luo PhD, Tanya Tischler MS, Matthew A. Deardorff MD, PhD, Elaine Zackai MD and Avni B. Santani PhD

Genet Med advance online publication, October 20, 2016; doi:10.1038/gim.2016.169

Systematic Review

Genetics/genomics education for nongenetic health professionals: a systematic literature review

Divya Talwar MPH, BDS, Tung-Sung Tseng DrPH, MS, Margaret Foster MS, MPH, Lei Xu PhD and Lei-Shih Chen PhD, CHES

Genet Med advance online publication, October 20, 2016; doi:10.1038/gim.2016.156

Commentary

Managing sickle cell carrier results generated through newborn screening in Ontario: a precedent-setting policy story

Robin Z. Hayeems PhD, Charlotte Moore Hepburn MD, Pranesh Chakraborty MD, Isaac Odame MD, Joe Clarke MD, Fiona A. Miller PhD and Adalsteinn D. Brown PhD

Genet Med advance online publication, October 20, 2016; doi:10.1038/gim.2016.162

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October 13 2016

Original Research Articles

Health screening behaviors among adults with hereditary hemorrhagic telangiectasia in North America

Melanie Baxter ScM, CGC, Lori Erby PhD, CGC, Debra Roter DrPH, Barbara A. Bernhardt MS, LCGC, Peter Terry MD and Alan Guttmacher MD

Genet Med advance online publication, October 13, 2016; doi:10.1038/gim.2016.161

Copy-number variation is an important contributor to the genetic causality of inherited retinal degenerations

Kinga M. Bujakowska, Rosario Fernandez-Godino, Emily Place, Mark Consugar, Daniel Navarro-Gomez, Joseph White, Emma C. Bedoukian, Xiaosong Zhu, Hongbo M. Xie, Xiaowu Gai, Bart P. Leroy and Eric A. Pierce

Genet Med advance online publication, October 13, 2016; doi:10.1038/gim.2016.158

Early manifestations of type 1 Gaucher disease in presymptomatic children diagnosed after parental carrier screening

Amy C. Yang MD, Louise Bier MS, Jessica R. Overbey MS, Jessica Cohen-Pfeffer MD, Khyati Desai MD, Robert J. Desnick PhD, MD and Manisha Balwani MD, MS

Genet Med advance online publication, October 13, 2016; doi:10.1038/gim.2016.159

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August 25 2016

Invited Commentary

Long-term follow-up in newborn screening: the role of collaboration

Melissa P. Wasserstein MD

Genet Med advance online publication, August 25, 2016; doi:10.1038/gim.2016.99

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