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August 17 2017

Original Research Articles

Prospective cohort study for identification of underlying genetic causes in neonatal encephalopathy using whole-exome sequencing

Theodora U J Bruun, Caro-Lyne DesRoches, Diane Wilson, Vann Chau, Tadashi Nakagawa, Masahiro Yamasaki, Shinya Hasegawa, Toshiyuki Fukao, Christian Marshall and Saadet Mercimek-Andrews

Genet Med advance online publication, August 17, 2017; doi:10.1038/gim.2017.129

Monoallelic and biallelic CREB3L1 variant causes mild and severe osteogenesis imperfecta, respectively

Rachel B Keller, Thao T Tran, Shawna M Pyott, Melanie G Pepin, Ravi Savarirayan, George McGillivray, Deborah A Nickerson, Michael J Bamshad and Peter H Byers

Genet Med advance online publication, August 17, 2017; doi:10.1038/gim.2017.115


August 10 2017

Original Research Article

Genetic disruption of the oncogenic HMGA2PLAG1IGF2 pathway causes fetal growth restriction Open

Walid Abi Habib PhD, Frédéric Brioude MD, PhD, Thomas Edouard MD, PhD, James T Bennett MD, PhD, Anne Lienhardt-Roussie MD, PhD, Frédérique Tixier MD, Jennifer Salem MSc, Tony Yuen PhD, Salah Azzi PhD, Yves Le Bouc MD, PhD, Madeleine D Harbison MD and Irène Netchine MD, PhD

Genet Med advance online publication, August 10, 2017; doi:10.1038/gim.2017.105

Letter to the Editor

Response to Koeller et al.  FREE

Alison E Fohner, Nanibaa' A Garrison, Melissa A Austin and Wylie Burke

Genet Med advance online publication, August 10, 2017; doi:10.1038/gim.2017.117


A proposed approach to accelerate evidence generation for genomic-based technologies in the context of a learning health system

Christine Y Lu MSc, PhD, Marc S Williams MD, Geoffrey S Ginsburg MD, PhD, Sengwee Toh ScD, Jeff S Brown PhD and Muin J Khoury MD, PhD

Genet Med advance online publication, August 10, 2017; doi:10.1038/gim.2017.122


August 3 2017

Original Research Articles

Multiplex epithelium dysfunction due to CLDN10 mutation: the HELIX syndrome

Smail Hadj-Rabia, Gaelle Brideau, Yasser Al-Sarraj, Rachid C Maroun, Marie-Lucile Figueres, Stéphanie Leclerc-Mercier, Eric Olinger, Stéphanie Baron, Catherine Chaussain, Dominique Nochy, Rowaida Z Taha, Bertrand Knebelmann, Vandana Joshi, Patrick A Curmi, Marios Kambouris, Rosa Vargas-Poussou, Christine Bodemer, Olivier Devuyst, Pascal Houillier, MD, PhD and Hatem El-Shanti

Genet Med advance online publication, August 3, 2017; doi:10.1038/gim.2017.71

Parental preferences toward genomic sequencing for non-medically actionable conditions in children: a discrete-choice experiment

Megan A Lewis, Alex Stine, Ryan S Paquin, Carol Mansfield, Dallas Wood, Christine Rini, Myra I Roche, Cynthia M Powell, Jonathan S Berg and Donald B Bailey Jr

Genet Med advance online publication, August 3, 2017; doi:10.1038/gim.2017.93

Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test Open

Anath C Lionel PhD, Gregory Costain MD, PhD, Nasim Monfared MSc, Susan Walker PhD, Miriam S Reuter MD, S Mohsen Hosseini MD, PhD, Bhooma Thiruvahindrapuram MSc, Daniele Merico PhD, Rebekah Jobling MD, Thomas Nalpathamkalam MSc, Giovanna Pellecchia PhD, Wilson W L Sung MSc, Zhuozhi Wang PhD, Peter Bikangaga MD, Cyrus Boelman MD, Melissa T Carter MD, MSc, Dawn Cordeiro BN, Cheryl Cytrynbaum MS, Sharon D Dell MD, Priya Dhir BSc, James J Dowling MD, PhD, Elise Heon MD, Stacy Hewson MSc, Linda Hiraki MD, DSc, Michal Inbar-Feigenberg MD, Regan Klatt MSc, Jonathan Kronick MD, PhD, Ronald M Laxer MD, Christoph Licht MD, Heather MacDonald MSc, Saadet Mercimek-Andrews MD, MSc, Roberto Mendoza-Londono MD, PhD, Tino Piscione MD, PhD, Rayfel Schneider MD, Andreas Schulze MD, PhD, Earl Silverman MD, Komudi Siriwardena MD, O Carter Snead MD, Neal Sondheimer MD, PhD, Joanne Sutherland MSc, Ajoy Vincent MD, Jonathan D Wasserman MD, PhD, Rosanna Weksberg MD, PhD, Cheryl Shuman MSc, Chris Carew MBA, Michael J Szego PhD, Robin Z Hayeems PhD, Raveen Basran PhD, Dimitri J Stavropoulos PhD, Peter N Ray PhD, Sarah Bowdin MD, MSc, M Stephen Meyn MD, PhD, Ronald D Cohn MD, Stephen W Scherer PhD and Christian R Marshall PhD

Genet Med advance online publication, August 3, 2017; doi:10.1038/gim.2017.119

Interpreting the clinical significance of combined variants in multiple recessive disease genes: systematic investigation of Joubert syndrome yields little support for oligogenicity

Ian G Phelps BSc, Jennifer C Dempsey MPH, Megan E Grout BSc, Christine R Isabella BSc, Hannah M Tully MD, Dan Doherty MD, PhD and Ruxandra Bachmann-Gagescu MD

Genet Med advance online publication, August 3, 2017; doi:10.1038/gim.2017.94

Reactions to clinical reinterpretation of a gene variant by participants in a sequencing study

Jennifer M Taber PhD, William M P Klein PhD, Katie L Lewis, Jennifer J Johnston PhD, Leslie G Biesecker and Barbara B Biesecker PhD

Genet Med advance online publication, August 3, 2017; doi:10.1038/gim.2017.88

B3GAT3-related disorder with craniosynostosis and bone fragility due to a unique mutation

Kevin Yauy, Frederic Tran Mau-Them, Marjolaine Willems, Christine Coubes, Patricia Blanchet, Christian Herlin, Ikram Taleb Arrada, Elodie Sanchez, Jean-Michel Faure, Marie-Pascale Le Gac, Olivier Prodhomme, Anne Boland, Vincent Meyer, Jean-Baptiste Rivière, Yannis Duffourd, Jean-François Deleuze, Thomas Guignard, Guillaume Captier, Mouna Barat-Houari and David Genevieve

Genet Med advance online publication, August 3, 2017; doi:10.1038/gim.2017.109

De novo and rare inherited copy-number variations in the hemiplegic form of cerebral palsy Open

Mehdi Zarrei, Darcy L Fehlings, Karizma Mawjee, Lauren Switzer, Bhooma Thiruvahindrapuram, Susan Walker, Daniele Merico, Guillermo Casallo, Mohammed Uddin, Jeffrey R MacDonald, Matthew J Gazzellone, Edward J Higginbotham, Craig Campbell, Gabrielle deVeber, Pam Frid, Jan Willem Gorter, Carolyn Hunt, Anne Kawamura, Marie Kim, Anna McCormick, Ronit Mesterman, Dawa Samdup, Christian R Marshall, Dimitri J Stavropoulos, Richard F Wintle and Stephen W Scherer

Genet Med advance online publication, August 3, 2017; doi:10.1038/gim.2017.83


Should we implement population screening for fragile X?

David P Dimmock

Genet Med advance online publication, August 3, 2017; doi:10.1038/gim.2017.81

Precision medicine, health disparities, and ethics: the case for disability inclusion

Maya Sabatello

Genet Med advance online publication, August 3, 2017; doi:10.1038/gim.2017.120

Letter to the Editor

Health effects of the CPT1A P479L variant: responsible public health policy FREE

David M Koeller, Matt Hirschfeld, Stephanie Birch, Thalia Wood, Rebekah Morisse, Sabra Anckner and Bradford D Gessner

Genet Med advance online publication, August 3, 2017; doi:10.1038/gim.2017.116


Diagnosis and treatment of tyrosinemia type I: a US and Canadian consensus group review and recommendations Open

Jeffrey M Chinsky MD, PhD, Rani Singh PhD, RD, Can Ficicioglu MD, PhD, Clara D M van Karnebeek MD, PhD, Markus Grompe MD, Grant Mitchell MD, Susan E Waisbren PhD, Muge Gucsavas-Calikoglu MD, Melissa P Wasserstein MD, Katie Coakley PhD, RD and C Ronald Scott MD

Genet Med advance online publication, August 3, 2017; doi:10.1038/gim.2017.101

Clinical penetrance in hereditary hemochromatosis: estimates of the cumulative incidence of severe liver disease among HFE C282Y homozygotes

Scott D Grosse PhD, Lyle C Gurrin BSc, PhD, Nadine A Bertalli BHSc and Katrina J Allen MD, PhD

Genet Med advance online publication, August 3, 2017; doi:10.1038/gim.2017.121


July 27 2017

Original Research Articles

The wide genetic landscape of clinical frontotemporal dementia: systematic combined sequencing of 121 consecutive subjects Open

Cornelis Blauwendraat PhD, Carlo Wilke MD, Javier Simón-Sánchez PhD, Iris E Jansen PhD, Anika Reifschneider, Anja Capell PhD, Christian Haass PhD, Melissa Castillo-Lizardo, Saskia Biskup PhD, Walter Maetzler MD, Patrizia Rizzu PhD, Peter Heutink PhD and Matthis Synofzik MD

Genet Med advance online publication, July 27, 2017; doi:10.1038/gim.2017.102

Racial/ethnic differences in multiple-gene sequencing results for hereditary cancer risk

Jennifer L Caswell-Jin MD, Tanya Gupta MD, Evan Hall MD, Iva M Petrovchich BS, Meredith A Mills BA, Kerry E Kingham MS, Rachel Koff MS, Nicolette M Chun MS, Peter Levonian MS, Alexandra P Lebensohn MS, James M Ford MD and Allison W Kurian MD, MSc

Genet Med advance online publication, July 27, 2017; doi:10.1038/gim.2017.96

SLC39A8 deficiency: biochemical correction and major clinical improvement by manganese therapy

Julien H Park, Max Hogrebe, Manfred Fobker, Renate Brackmann, Barbara Fiedler, Janine Reunert, Stephan Rust, Konstantinos Tsiakas, René Santer, Marianne Grüneberg and Thorsten Marquardt

Genet Med advance online publication, July 27, 2017; doi:10.1038/gim.2017.106

Molecular autopsy in maternal–fetal medicine

Hanan E Shamseldin, Wesam Kurdi, Fatima Almusafri, Maha Alnemer, Alya Alkaff, Zeneb Babay, Amal Alhashem, Maha Tulbah, Nada Alsahan, Rubina Khan, Bahauddin Sallout, Elham Al Mardawi, Mohamed Zain Seidahmed, Niema Meriki, Yasser Alsaber, Alya Qari, Ola Khalifa, Wafaa Eyaid, Zuhair Rahbeeni, Ahmed Kurdi, Mais Hashem, Tarfa Alshidi, Eman Al-Obeid, Firdous Abdulwahab, Niema Ibrahim, Nour Ewida, Karen El-Akouri, Mariam Al Mulla, Tawfeg Ben-Omran, Matthias Pergande, Sebahattin Cirak, Saeed Al Tala, Ranad Shaheen, Eissa Faqeih and Fowzan S Alkuraya

Genet Med advance online publication, July 27, 2017; doi:10.1038/gim.2017.111

Mapping the genomic landscape of inherited retinal disease genes prioritizes genes prone to coding and noncoding copy-number variations Open

Kristof Van Schil, Sarah Naessens, Stijn Van de Sompele, Marjolein Carron, Alexander Aslanidis, Caroline Van Cauwenbergh, Anja Kathrin Mayer, Mattias Van Heetvelde, Miriam Bauwens, Hannah Verdin, Frauke Coppieters, Michael E Greenberg, Marty G Yang, Marcus Karlstetter, Thomas Langmann, Katleen De Preter, Susanne Kohl, Timothy J Cherry, Bart P Leroy and Elfride De Baere

Genet Med advance online publication, July 27, 2017; doi:10.1038/gim.2017.97


Patient care standards for primary mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society

Sumit Parikh MD, Amy Goldstein MD, Amel Karaa MD, Mary Kay Koenig MD, Irina Anselm MD, Catherine Brunel-Guitton MD, FRCPC, John Christodoulou MBBS, PhD, Bruce H Cohen MD, David Dimmock MD, Gregory M Enns MD, ChB, Marni J Falk MD, Annette Feigenbaum MD, Richard E Frye MD, PhD, Jaya Ganesh MD, David Griesemer MD, Richard Haas MRCP, Rita Horvath MD, PhD, Mark Korson MD, Michael C Kruer MD, Michelangelo Mancuso MD, PhD, Shana McCormack MD, Marie Josee Raboisson MD, Tyler Reimschisel MD, MHPE, Ramona Salvarinova MD, FRCPC, Russell P Saneto DO, PhD, Fernando Scaglia MD, John Shoffner MD, Peter W Stacpoole PhD, MD, Carolyn M Sue MBBS, PhD, Mark Tarnopolsky MD, PhD, Clara Van Karnebeek MD, PhD, Lynne A Wolfe MS, CRNP, Zarazuela Zolkipli Cunningham MBChB, MRCP, Shamima Rahman FRCP, PhD and Patrick F Chinnery FRCP, FMedSci

Genet Med advance online publication, July 27, 2017; doi:10.1038/gim.2017.107


July 20 2017

Original Research Articles

Prevalence of germ-line mutations in cancer genes among pancreatic cancer patients with a positive family history

Kari G Chaffee, Ann L Oberg, Robert R McWilliams, Neil Majithia, Brian A Allen, John Kidd, Nanda Singh, Anne-Renee Hartman, Richard J Wenstrup and Gloria M Petersen

Genet Med advance online publication, July 20, 2017; doi:10.1038/gim.2017.85

A randomized controlled trial of disclosing genetic risk information for Alzheimer disease via telephone

Kurt D Christensen, Wendy R Uhlmann, J Scott Roberts, Erin Linnenbringer, Peter J Whitehouse, Charmaine D M Royal, Thomas O Obisesan, L Adrienne Cupples, Melissa B Butson, Grace-Ann Fasaye, Susan Hiraki, Clara A Chen, Uwe Siebert, Robert Cook-Deegan and Robert C Green for the REVEAL Study Group

Genet Med advance online publication, July 20, 2017; doi:10.1038/gim.2017.103

Data sharing as a national quality improvement program: reporting on BRCA1 and BRCA2 variant-interpretation comparisons through the Canadian Open Genetics Repository (COGR)

Matthew S Lebo PhD, Kathleen-Rose Zakoor MS, Kathy Chun PhD, Marsha D Speevak PhD, John S Waye PhD, Elizabeth McCready PhD, Jillian S Parboosingh PhD, Ryan E Lamont PhD, Harriet Feilotter PhD, Ian Bosdet PhD, Tracy Tucker PhD, Sean Young PhD, Aly Karsan MD, George S Charames PhD, Ronald Agatep PhD, Elizabeth L Spriggs PhD, Caitlin Chisholm MS, Nasim Vasli PhD, Hussein Daoud PhD, Olga Jarinova PhD, Robert Tomaszewski BSc, Stacey Hume PhD, Sherryl Taylor PhD, Mohammad R Akbari MD, Jordan Lerner-Ellis PhD and the Canadian Open Genetics Repository Working Group

Genet Med advance online publication, July 20, 2017; doi:10.1038/gim.2017.80

Knowledge base and mini-expert platform for the diagnosis of inborn errors of metabolism Open

Jessica J Y Lee BSc, Wyeth W Wasserman PhD, Georg F Hoffmann MD, Clara D M van Karnebeek MD, PhD and Nenad Blau PhD

Genet Med advance online publication, July 20, 2017; doi:10.1038/gim.2017.108

When genotype is not predictive of phenotype: implications for genetic counseling based on 21,594 chromosomal microarray analysis examinations

Idit Maya MD, Reuven Sharony MD, Shiri Yacobson MSc, Sarit Kahana PhD, Josepha Yeshaya PhD, Tamar Tenne PhD, Ifaat Agmon-Fishman MSc, Lital Cohen-Vig MD, Yael Goldberg MD, Racheli Berger PhD, Lina Basel-Salmon MD, PhD and Mordechai Shohat MD

Genet Med advance online publication, July 20, 2017; doi:10.1038/gim.2017.89

A patient with germ-line gain-of-function PDGFRB p.N666H mutation and marked clinical response to imatinib

Dinel Pond MS, Florence A Arts MS, Nancy J Mendelsohn MD, Jean-Baptiste Demoulin PhD, Gunter Scharer MD, PhD and Yoav Messinger MD

Genet Med advance online publication, July 20, 2017; doi:10.1038/gim.2017.104

PREPL deficiency: delineation of the phenotype and development of a functional blood assay

Luc Régal, Emma Mårtensson, Isabelle Maystadt, Nicol Voermans, Damien Lederer, Alberto Burlina, María Jesús Juan Fita, A Jeannette M Hoogeboom, Mia Olsson Engman, Tess Hollemans, Meyke Schouten, Sandra Meulemans, Tord Jonson, Inge François, David Gil Ortega, Erik-Jan Kamsteeg and John W M Creemers

Genet Med advance online publication, July 20, 2017; doi:10.1038/gim.2017.74

Quality of life in men with Klinefelter syndrome: the impact of genotype, health, socioeconomics, and sexual function

Anne Skakkebæk MD, PhD, Philip J Moore MS, Simon Chang MD, Jens Fedder MD, PhD and Claus H Gravholt MD, DMSc

Genet Med advance online publication, July 20, 2017; doi:10.1038/gim.2017.110

Genomic diagnostics within a medically underserved population: efficacy and implications

Kevin A Strauss MD, Claudia Gonzaga-Jauregui PhD, Karlla W Brigatti MS, Katie B Williams MDPhD, Alejandra K King PhD, Cristopher Van Hout PhD, Donna L Robinson CRNP, Millie Young RNC, Kavita Praveen PhD, Adam D Heaps MS, Mindy Kuebler MS, Aris Baras MD, Jeffrey G Reid PhD, John D Overton PhD, Frederick E Dewey MD, Robert N Jinks PhD, Ian Finnegan BA, Scott J Mellis MDPhD, Alan R Shuldiner MD and Erik G Puffenberger PhD

Genet Med advance online publication, July 20, 2017; doi:10.1038/gim.2017.76


July 13 2017

Invited Commentary

A new era in the interpretation of human genomic variation

Heidi L Rehm

Genet Med advance online publication, July 13, 2017; doi:10.1038/gim.2017.90


July 6 2017

Original Research Article

Survival trends from the Prader–Willi Syndrome Association (USA) 40-year mortality survey

Ann M Manzardo, James Loker, Janalee Heinemann, Carolyn Loker and Merlin G Butler

Genet Med advance online publication, July 6, 2017; doi:10.1038/gim.2017.92

ACMG Standards and Guidelines

Laboratory diagnosis of biotinidase deficiency, 2017 update: a technical standard and guideline of the American College of Medical Genetics and Genomics FREE

Erin T Strovel, Tina M Cowan, Anna I Scott and Barry Wolf

Genet Med advance online publication, July 6, 2017; doi:10.1038/gim.2017.84


June 29 2017

Original Research Articles

Mutations in C-natriuretic peptide (NPPC): a novel cause of autosomal dominant short stature

Alfonso Hisado-Oliva, Alba Ruzafa-Martin, Lucia Sentchordi, Mariana F A Funari, Carolina Bezanilla-López, Marta Alonso-Bernáldez, Jimena Barraza-García, Maria Rodriguez-Zabala, Antonio M Lerario, Sara Benito-Sanz, Miriam Aza-Carmona, Angel Campos-Barros, Alexander A L Jorge and Karen E Heath

Genet Med advance online publication, June 29, 2017; doi:10.1038/gim.2017.66

Informed decision making and psychosocial outcomes in pregnant and nonpregnant women offered population fragile X carrier screening Open

Sylvia A Metcalfe, Melissa Martyn, Alice Ames, Vicki Anderson, Alison D Archibald, Grad Dip Gen Couns, Rob Carter, Jonathan Cohen, Megan Cotter, M GenCouns, William Dang, Martin B Delatycki, Susan Donath, Samantha Edwards, PGrad Dip Educ, Grad Dip Gen Couns, Robin Forbes, Grad Dip Gen Couns, Mioara Gavrila, M MedSci, Jane Halliday, Chriselle Hickerton, Melissa Hill, Grad Dip Gen Couns, Lorilli Jacobs, PGrad Dip Ultrasound, Vicki Petrou, Grad Dip Gen Couns, Loren Plunkett, M GenCouns, Leslie Sheffield, F RACP, Alison Thornton, Grad Dip Gen Couns, Sandra Younie, PGrad Dip Hlth Econ and Jon D Emery

Genet Med advance online publication, June 29, 2017; doi:10.1038/gim.2017.67

FOXG1 syndrome: genotype–phenotype association in 83 patients with FOXG1 variants

Diana Mitter, Milka Pringsheim, Marc Kaulisch, Kim Sarah Plümacher, Simone Schröder, Rita Warthemann, Rami Abou Jamra, Martina Baethmann, Thomas Bast, Hans-Martin Büttel, Julie S Cohen, Elizabeth Conover, Carolina Courage, Angelika Eger, Ali Fatemi, Theresa A Grebe, Natalie S Hauser, Wolfram Heinritz, Katherine L Helbig, Marion Heruth, Dagmar Huhle, Karen Höft, Stephanie Karch, Gerhard Kluger, G Christoph Korenke, Johannes R Lemke, Richard E Lutz, Steffi Patzer, Isabelle Prehl, Konstanze Hoertnagel, Keri Ramsey, Tina Rating, Angelika Rieß, Luis Rohena, Mareike Schimmel, Rachel Westman, Frank-Martin Zech, Barbara Zoll, Dörthe Malzahn, Birgit Zirn and Knut Brockmann

Genet Med advance online publication, June 29, 2017; doi:10.1038/gim.2017.75

CAP/ACMG proficiency testing for biochemical genetics laboratories: a summary of performance Open

Devin Oglesbee, Tina M Cowan, Marzia Pasquali, Timothy C Wood, Karen E Weck, Thomas Long and Glenn E Palomaki

Genet Med advance online publication, June 29, 2017; doi:10.1038/gim.2017.61

Brief Report

Quantifying survival in patients with Proteus syndrome

Julie C Sapp, Lian Hu, Jean Zhao, Ashlyn Gruber, Brian Schwartz, Dora Ferrari and Leslie G Biesecker, MD

Genet Med advance online publication, June 29, 2017; doi:10.1038/gim.2017.65

Letter to the Editor

Response to Herbert et al.  FREE

Juna M de Vries, Esther Kuperus, Marianne Hoogeveen-Westerveld, Marian A Kroos, Stephan C A Wens, Merel Stok, Nadine A M E van der Beek, Michelle E Kruijshaar, Dimitris Rizopoulos, Pieter A van Doorn, Ans T van der Ploeg and W W M Pim Pijnappel

Genet Med advance online publication, June 29, 2017; doi:10.1038/gim.2017.49


June 22 2017

Original Research Articles

Systematic design and comparison of expanded carrier screening panels Open

Kyle A Beauchamp, Dale Muzzey, Kenny K Wong, Gregory J Hogan, Kambiz Karimi, Sophie I Candille, Nikita Mehta, Rebecca Mar-Heyming, K. Eerik Kaseniit, H. Peter Kang, Eric A Evans, James D Goldberg, Gabriel A Lazarin and Imran S Haque

Genet Med advance online publication, June 22, 2017; doi:10.1038/gim.2017.69

Temple syndrome: comprehensive molecular and clinical findings in 32 Japanese patients Open

Masayo Kagami, Keisuke Nagasaki, Rika Kosaki, Reiko Horikawa, Yasuhiro Naiki, Shinji Saitoh, Toshihiro Tajima, Tohru Yorifuji, Chikahiko Numakura, Seiji Mizuno, Akie Nakamura, Keiko Matsubara, Maki Fukami and Tsutomu Ogata

Genet Med advance online publication, June 22, 2017; doi:10.1038/gim.2017.53

Genetic testing impacts the utility of prospective familial screening in hypertrophic cardiomyopathy through identification of a nonfamilial subgroup

Carol Ko, Patricia Arscott, Maryann Concannon, Sara Saberi, Sharlene M Day, Beverly M Yashar and Adam S Helms

Genet Med advance online publication, June 22, 2017; doi:10.1038/gim.2017.79

GWAS signals revisited using human knockouts

Sateesh Maddirevula, Fatema AlZahrani, Shams Anazi, Mariam Almureikhi, Tawfeg Ben-Omran, Ghada M H Abdel-Salam, Mais Hashem, Niema Ibrahim, Firdous M Abdulwahab, Neama Meriki, Fahad A Bashiri, Meow-Keong Thong, Premala Muthukumarasamy, Rifhan Azwani Mazlan, Ranad Shaheen and Fowzan S Alkuraya

Genet Med advance online publication, June 22, 2017; doi:10.1038/gim.2017.78

Brief Report

Long-read genome sequencing identifies causal structural variation in a Mendelian disease

Jason D Merker, Aaron M Wenger, Tam Sneddon, Megan Grove, Zachary Zappala, Laure Fresard, Daryl Waggott, Sowmi Utiramerur, Yanli Hou, Kevin S Smith, Stephen B Montgomery, Matthew Wheeler, Jillian G Buchan, Christine C Lambert, Kevin S Eng, Luke Hickey, Jonas Korlach, James Ford and Euan A Ashley

Genet Med advance online publication, June 22, 2017; doi:10.1038/gim.2017.86

Original Research Articles

Broad consent for health care–embedded biobanking: understanding and reasons to donate in a large patient sample

Gesine Richter, Michael Krawczak, Wolfgang Lieb, Lena Wolff, Stefan Schreiber and Alena Buyx

Genet Med advance online publication, June 22, 2017; doi:10.1038/gim.2017.82

In-depth investigations of adolescents and adults with holoprosencephaly identify unique characteristics Open

Karin Weiss, Paul Kruszka, Maria J Guillen Sacoto, Yonit A Addissie, Donald W Hadley, Casey K Hadsall, Bethany Stokes, Ping Hu, Erich Roessler, Beth Solomon, Edythe Wiggs, Audrey Thurm, Robert B Hufnagel, Wadih M Zein, Jin S Hahn, Elaine Stashinko, Eric Levey, Debbie Baldwin, Nancy J Clegg, Mauricio R Delgado and Maximilian Muenke

Genet Med advance online publication, June 22, 2017; doi:10.1038/gim.2017.68


Report on the Banbury Summit Meeting on medical genetics training in the genomic era, 23–26 February 2014 Open

Bruce R Korf, Miriam G Blitzer, Laurie A Demmer, Gerald L Feldman and Michael S Watson

Genet Med advance online publication, June 22, 2017; doi:10.1038/gim.2017.38

The importance of communicating histories of gender assignment and reassignment to genetic laboratories

Jess F Peterson, Peggy J Andringa, John W Grignon Jr and Peter vanTuinen

Genet Med advance online publication, June 22, 2017; doi:10.1038/gim.2017.44

Letter to the Editor

Pitfalls of trio-based exome sequencing: imprinted genes and parental mosaicism—MAGEL2 as an example FREE

María Palomares-Bralo, Elena Vallespín, Ángela del Pozo, Kristina Ibañez, Juan Carlos Silla, Enrique Galán, Gema Gordo, Víctor Martínez-Glez, Lázaro I Alba-Valdivia, Karen E Heath, Sixto García-Miñaúr, Pablo Lapunzina and Fernando Santos-Simarro

Genet Med advance online publication, June 22, 2017; doi:10.1038/gim.2017.42

Systematic Review

Treatment of mucopolysaccharidosis type II (Hunter syndrome): results from a systematic evidence review

Linda A Bradley, Hamish R M Haddow and Glenn E Palomaki

Genet Med advance online publication, June 22, 2017; doi:10.1038/gim.2017.30


June 15 2017

Original Research Articles

Genome-wide cfDNA screening: clinical laboratory experience with the first 10,000 cases

Mathias Ehrich, John Tynan, Amin Mazloom, Eyad Almasri, Ron McCullough, Theresa Boomer, Daniel Grosu and Jason Chibuk

Genet Med advance online publication, June 15, 2017; doi:10.1038/gim.2017.56

A cohort of 17 patients with kyphoscoliotic Ehlers–Danlos syndrome caused by biallelic mutations in FKBP14: expansion of the clinical and mutational spectrum and description of the natural history Open

Cecilia Giunta, Matthias Baumann, Christine Fauth, Uschi Lindert, Ebtesam M Abdalla, Angela F Brady, James Collins, Jahannaz Dastgir, Sandra Donkervoort, Neeti Ghali, Diana S Johnson, Ariana Kariminejad, Johannes Koch, Marius Kraenzlin, Nayana Lahiri, Bernarda Lozic, Adnan Y Manzur, Jenny E V Morton, Jacek Pilch, Rebecca C Pollitt, Gudrun Schreiber, Nora L Shannon, Glenda Sobey, Anthony Vandersteen, Fleur S van Dijk, Martina Witsch-Baumgartner, Johannes Zschocke, F Michael Pope, Carsten G Bönnemann and Marianne Rohrbach

Genet Med advance online publication, June 15, 2017; doi:10.1038/gim.2017.70

Utilization of genomic sequencing for population screening of immunodeficiencies in the newborn

Ashleigh R Pavey, Dale L Bodian, Thierry Vilboux, Alina Khromykh, Natalie S Hauser, Kathi Huddleston, Elisabeth Klein, Aaron Black, Megan S Kane, Ramaswamy K Iyer, John E Niederhuber and Benjamin D Solomon

Genet Med advance online publication, June 15, 2017; doi:10.1038/gim.2017.57

Oral D-galactose supplementation in PGM1-CDG

Sunnie Yan-Wai Wong, Therese Gadomski, Monique van Scherpenzeel, Tomas Honzik, Hana Hansikova, Katja S Brocke Holmefjord, Marit Mork, Francis Bowling, Jolanta Sykut-Cegielska, Dieter Koch, Jozef Hertecant, Graeme Preston, Jaak Jaeken, Nicole Peeters, Stefanie Perez, David Do Nguyen, Kea Crivelly, Tim Emmerzaal, K Michael Gibson, Kimiyo Raymond, Nurulamin Abu Bakar, Francois Foulquier, Gernot Poschet, Amanda M Ackermann, Miao He, Dirk J Lefeber, Christian Thiel, Tamas Kozicz and Eva Morava

Genet Med advance online publication, June 15, 2017; doi:10.1038/gim.2017.41


June 1 2017

Original Research Article

Sources of discordance among germ-line variant classifications in ClinVar Open

Shan Yang, Stephen E Lincoln, Yuya Kobayashi, Keith Nykamp, Robert L Nussbaum and Scott Topper

Genet Med advance online publication, June 1, 2017; doi:10.1038/gim.2017.60


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


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


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


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


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


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


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


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


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

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


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


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


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


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


February 2 2017

Original Research Article

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


January 26 2017

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

Original Research Articles

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

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


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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