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  • In This Issue
    Genet. Med. (IF 8.229) Pub Date : 2018-02-22

    In This Issue In This Issue, Published online: 22 February 2018; doi:10.1038/gim.2017.267 In This Issue

    更新日期:2018-02-22
  • News Briefs
    Genet. Med. (IF 8.229) Pub Date : 2018-02-22

    News Briefs News Briefs, Published online: 22 February 2018; doi:10.1038/gim.2017.268 News Briefs

    更新日期:2018-02-22
  • Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants
    Genet. Med. (IF 8.229) Pub Date : 2018-02-22
    Jennifer J Johnston, Jasper J van der Smagt, Jill A Rosenfeld, Alistair T Pagnamenta, Abdulrahman Alswaid, Eva H Baker, Edward Blair, Guntram Borck, Julia Brinkmann, William Craigen, Vu Chi Dung, Lisa Emrick, David B Everman, Koen L van Gassen, Suleyman Gulsuner, Margaret H Harr, Mahim Jain, Alma Kuechler, Kathleen A Leppig, Donna M McDonald-McGinn, Ngoc Thi Bich Can, Amir Peleg, Elizabeth R Roeder, R Curtis Rogers, Lena Sagi-Dain, Julie C Sapp, Alejandro A Schäffer, Denny Schanze, Helen Stewart, Jenny C Taylor, Nienke E Verbeek, Magdalena A Walkiewicz, Elaine H Zackai, Christiane Zweier, Members of the Undiagnosed Diseases Network, Martin Zenker, Brendan Lee, Leslie G Biesecker

    To characterize the molecular genetics of autosomal recessive Noonan syndrome.

    更新日期:2018-02-22
  • CLAPO syndrome: identification of somatic activating PIK3CA mutations and delineation of the natural history and phenotype
    Genet. Med. (IF 8.229) Pub Date : 2018-02-15
    Lara Rodriguez-Laguna, Kristina Ibañez, Gema Gordo, Sixto Garcia-Minaur, Fernando Santos-Simarro, Noelia Agra, Elena Vallespín, Victoria E Fernández-Montaño, Rubén Martín-Arenas, Ángela del Pozo, Héctor González-Pecellín, Rocío Mena, Inmaculada Rueda-Arenas, María V Gomez, Cristina Villaverde, Ana Bustamante, Carmen Ayuso, Víctor L Ruiz-Perez, Julián Nevado, Pablo Lapunzina, Juan C Lopez-Gutierrez, Victor Martinez-Glez

    CLAPO syndrome is a rare vascular disorder characterized by capillary malformation of the lower lip, lymphatic malformation predominant on the face and neck, asymmetry, and partial/generalized overgrowth. Here we tested the hypothesis that, although the genetic cause is not known, the tissue distribution of the clinical manifestations in CLAPO seems to follow a pattern of somatic mosaicism.

    更新日期:2018-02-15
  • Are whole-exome and whole-genome sequencing approaches cost-effective? A systematic review of the literature
    Genet. Med. (IF 8.229) Pub Date : 2018-02-15
    Katharina Schwarze, James Buchanan, Jenny C Taylor, Sarah Wordsworth

    We conducted a systematic literature review to summarize the current health economic evidence for whole-exome sequencing (WES) and whole-genome sequencing (WGS).

    更新日期:2018-02-15
  • CORRIGENDUM: Novel findings with reassessment of exome data: implications for validation testing and interpretation of genomic data
    Genet. Med. (IF 8.229) Pub Date : 2018-02-08
    Kristin McDonald Gibson, Addie Nesbitt, Kajia Cao, Zhenming Yu, Elizabeth Denenberg, Elizabeth DeChene, Qiaoning Guan, Elizabeth Bhoj, Xiangdong Zhou, Bo Zhang, Chao Wu, Holly Dubbs, Alisha Wilkens, Livija Medne, Emma Bedoukian, Peter S White, Jeffrey Pennington, Minjie Luo, Laura Conlin, Dimitri Monos, Mahdi Sarmady, Eric Marsh, Elaine Zackai, Nancy Spinner, Ian Krantz, Matt Deardorff, Avni Santani

    CORRIGENDUM: Novel findings with reassessment of exome data: implications for validation testing and interpretation of genomic data CORRIGENDUM: Novel findings with reassessment of exome data: implications for validation testing and interpretation of genomic data, Published online: 08 February 2018; doi:10.1038/gim.2018.1 CORRIGENDUM: Novel findings with reassessment of exome data: implications for validation testing and interpretation of genomic data

    更新日期:2018-02-08
  • SCYL1 variants cause a syndrome with low γ-glutamyl-transferase cholestasis, acute liver failure, and neurodegeneration (CALFAN)
    Genet. Med. (IF 8.229) Pub Date : 2018-02-08
    Dominic Lenz, Patricia McClean, Aydan Kansu, Penelope E Bonnen, Giusy Ranucci, Christian Thiel, Beate K Straub, Inga Harting, Bader Alhaddad, Bianca Dimitrov, Urania Kotzaeridou, Daniel Wenning, Raffaele Iorio, Ryan W Himes, Zarife Kuloğlu, Emma L Blakely, Robert W Taylor, Thomas Meitinger, Stefan Kölker, Holger Prokisch, Georg F Hoffmann, Tobias B Haack, Christian Staufner

    Biallelic mutations in SCYL1 were recently identified as causing a syndromal disorder characterized by peripheral neuropathy, cerebellar atrophy, ataxia, and recurrent episodes of liver failure. The occurrence of SCYL1 deficiency among patients with previously undetermined infantile cholestasis or acute liver failure has not been studied; furthermore, little is known regarding the hepatic phenotype.

    更新日期:2018-02-08
  • A metabolomic map of Zellweger spectrum disorders reveals novel disease biomarkers
    Genet. Med. (IF 8.229) Pub Date : 2018-02-08
    Michael F Wangler, Leroy Hubert, Taraka R Donti, Meredith J Ventura, Marcus J Miller, Nancy Braverman, Kelly Gawron, Mousumi Bose, Ann B Moser, Richard O Jones, William B Rizzo, V Reid Sutton, Qin Sun, Adam D Kennedy, Sarah H Elsea

    Peroxisome biogenesis disorders–Zellweger spectrum disorders (PBD-ZSD) are metabolic diseases with multisystem manifestations. Individuals with PBD-ZSD exhibit impaired peroxisomal biochemical functions and have abnormal levels of peroxisomal metabolites, but the broader metabolic impact of peroxisomal dysfunction and the utility of metabolomic methods is unknown.

    更新日期:2018-02-08
  • Clinical validity of phenotype-driven analysis software PhenoVar as a diagnostic aid for clinical geneticists in the interpretation of whole-exome sequencing data
    Genet. Med. (IF 8.229) Pub Date : 2018-02-01
    Fanny Thuriot, Caroline Buote, Elaine Gravel, Sébastien Chénier, Valérie Désilets, Bruno Maranda, Paula J Waters, Pierre-Etienne Jacques, Sébastien Lévesque

    We sought to determine the diagnostic yield of whole-exome sequencing (WES) combined with phenotype-driven analysis of variants in patients with suspected genetic disorders.

    更新日期:2018-02-02
  • Anticipated responses of early adopter genetic specialists and nongenetic specialists to unsolicited genomic secondary findings
    Genet. Med. (IF 8.229) Pub Date : 2018-02-01
    Kurt D Christensen, Barbara A Bernhardt, Gail P Jarvik, Lucia A Hindorff, Jeffrey Ou, Sawona Biswas, Bradford C Powell, Robert W Grundmeier, Kalotina Machini, Dean J Karavite, Jeffrey W Pennington, Ian D Krantz, Jonathan S Berg, Katrina A B Goddard

    Secondary findings from genomic sequencing are becoming more common. We compared how health-care providers with and without specialized genetics training anticipated responding to different types of secondary findings.

    更新日期:2018-02-02
  • Corrigendum: Risk of colorectal cancer for carriers of a germ-line mutation in POLE or POLD1
    Genet. Med. (IF 8.229) Pub Date : 2018-02-01
    Daniel D Buchanan, Jenna R Stewart, Mark Clendenning, Christophe Rosty, Khalid Mahmood, Bernard J Pope, Mark A Jenkins, John L Hopper, Melissa C Southey, Finlay A Macrae, Ingrid M Winship, Aung Ko Win

    Corrigendum: Risk of colorectal cancer for carriers of a germ-line mutation in POLE or POLD1 Corrigendum: Risk of colorectal cancer for carriers of a germ-line mutation in POLE or POLD1, Published online: 01 February 2018; doi:10.1038/gim.2017.265 Corrigendum: Risk of colorectal cancer for carriers of a germ-line mutation in POLE or POLD1

    更新日期:2018-02-02
  • CORRIGENDUM: Reproductive genetic carrier screening for cystic fibrosis, fragile X syndrome, and spinal muscular atrophy in Australia: outcomes of 12,000 tests
    Genet. Med. (IF 8.229) Pub Date : 2018-02-01
    Alison Dalton Archibald, Melanie Jane Smith, Trent Burgess, Katrina Louise Scarff, Justine Elliott, Clare Elizabeth Hunt, Caitlin Barns-Jenkins, Chelsea Holt, Karina Sandoval, Vanessa Siva Kumar, Lisa Ward, Emily Caroline Allen, Sarah Valerie Collis, Shannon Cowie, David Francis, Martin B Delatycki, Eppie Mildred Yiu, R John Massie, Mark Domenic Pertile, Desirée du Sart, Damien Bruno, David J Amor

    CORRIGENDUM: Reproductive genetic carrier screening for cystic fibrosis, fragile X syndrome, and spinal muscular atrophy in Australia: outcomes of 12,000 tests CORRIGENDUM: Reproductive genetic carrier screening for cystic fibrosis, fragile X syndrome, and spinal muscular atrophy in Australia: outcomes of 12,000 tests, Published online: 01 February 2018; doi:10.1038/gim.2017.266 CORRIGENDUM: Reproductive genetic carrier screening for cystic fibrosis, fragile X syndrome, and spinal muscular atrophy in Australia: outcomes of 12,000 tests

    更新日期:2018-02-02
  • Reconsidering the duty to warn genetically at-risk relatives
    Genet. Med. (IF 8.229) Pub Date : 2018-02-01
    Mark A Rothstein

    The duty to warn genetically at-risk relatives of patients is one of the most misunderstood legal and ethical issues affecting clinical genetics. The legal doctrines are often associated with three state appellate court cases beginning in the mid-1990s. Since the HIPAA Privacy Rule went into effect in 2003, the duty to warn must be accomplished by warning the patient of the genetic nature of a diagnosed disorder or genetic risk and the necessity of warning at-risk relatives. Health-care providers are neither required nor permitted to warn at-risk relatives without the consent of their patients. Having warnings issued by the patient most closely aligns with traditional ethical principles and the interests of the parties. Physicians and other health-care providers can assist their patients by preparing jargon-free explanations of the genetic risk and offering consultation or referral services. In the future, the need for warnings is less likely to be triggered by diagnoses and more likely to be based on predictive information derived from genome sequencing and other technologies and data sources.

    更新日期:2018-02-02
  • Making pretest genomic counseling optional: lessons from the RAVE study
    Genet. Med. (IF 8.229) Pub Date : 2018-02-01
    Erica J Sutton, Iftikhar J Kullo, Richard R Sharp

    Making pretest genomic counseling optional: lessons from the RAVE study Making pretest genomic counseling optional: lessons from the RAVE study, Published online: 01 February 2018; doi:10.1038/gim.2017.240 Making pretest genomic counseling optional: lessons from the RAVE study

    更新日期:2018-02-02
  • Interpretation of genomic sequencing: variants should be considered uncertain until proven guilty
    Genet. Med. (IF 8.229) Pub Date : 2018-02-01
    Karen E Weck

    Interpretation of genomic sequencing: variants should be considered uncertain until proven guilty Interpretation of genomic sequencing: variants should be considered uncertain until proven guilty, Published online: 01 February 2018; doi:10.1038/gim.2017.269 Interpretation of genomic sequencing: variants should be considered uncertain until proven guilty

    更新日期:2018-02-02
  • A literature review at genome scale: improving clinical variant assessment
    Genet. Med. (IF 8.229) Pub Date : 2018-02-01
    Christopher A Cassa, Daniel M Jordan, Ivan Adzhubei, Shamil Sunyaev

    Over 150,000 variants have been reported to cause Mendelian disease in the medical literature. It is still difficult to leverage this knowledge base in clinical practice, as many reports lack strong statistical evidence or may include false associations. Clinical laboratories assess whether these variants (along with newly observed variants that are adjacent to these published ones) underlie clinical disorders.

    更新日期:2018-02-02
  • CardioClassifier: disease- and gene-specific computational decision support for clinical genome interpretation
    Genet. Med. (IF 8.229) Pub Date : 2018-01-25
    Nicola Whiffin, Roddy Walsh, Risha Govind, Matthew Edwards, Mian Ahmad, Xiaolei Zhang, Upasana Tayal, Rachel Buchan, William Midwinter, Alicja E Wilk, Hanna Najgebauer, Catherine Francis, Sam Wilkinson, Thomas Monk, Laura Brett, Declan P O'Regan, Sanjay K Prasad, Deborah J Morris-Rosendahl, Paul J R Barton, Elizabeth Edwards, James S Ware, Stuart A Cook

    Internationally adopted variant interpretation guidelines from the American College of Medical Genetics and Genomics (ACMG) are generic and require disease-specific refinement. Here we developed CardioClassifier (http://www.cardioclassifier.org), a semiautomated decision-support tool for inherited cardiac conditions (ICCs).

    更新日期:2018-01-26
  • The contribution of family history to the burden of diagnosed diabetes, undiagnosed diabetes, and prediabetes in the United States: analysis of the National Health and Nutrition Examination Survey, 2009–2014
    Genet. Med. (IF 8.229) Pub Date : 2018-01-25
    Ramal Moonesinghe, Gloria L A Beckles, Tiebin Liu, Muin J Khoury

    Given the importance of family history in the early detection and prevention of type 2 diabetes, we quantified the public health impact of reported family health history on diagnosed diabetes (DD), undiagnosed diabetes (UD), and prediabetes (PD) in the United States.

    更新日期:2018-01-26
  • MSH6 and PMS2 germ-line pathogenic variants implicated in Lynch syndrome are associated with breast cancer
    Genet. Med. (IF 8.229) Pub Date : 2018-01-18
    Maegan E Roberts, Sarah A Jackson, Lisa R Susswein, Nur Zeinomar, Xinran Ma, Megan L Marshall, Amy R Stettner, Becky Milewski, Zhixiong Xu, Benjamin D Solomon, Mary Beth Terry, Kathleen S Hruska, Rachel T Klein, Wendy K Chung

    An association of Lynch syndrome (LS) with breast cancer has been long suspected; however, there have been insufficient data to address this question for each of the LS genes individually.

    更新日期:2018-01-19
  • Professional responsibilities regarding the provision, publication, and dissemination of patient phenotypes in the context of clinical genetic and genomic testing: points to consider—a statement of the American College of Medical Genetics and Genomics (ACMG)
    Genet. Med. (IF 8.229) Pub Date : 2018-01-11
    Lynn W Bush, Anita E Beck, Leslie G Biesecker, James P Evans, Ada Hamosh, Ingrid A Holm, Christa L Martin, C Sue Richards, Heidi L Rehm

    Disclaimer: This Points to Consider document is designed as an educational resource to provide best practices for medical genetic clinicians, laboratories, and journals regarding the provision, publication, and dissemination of patient phenotypes in the context of genomic testing, clinical genetic practice, and research. While the goal of the document is the improvement of patient care, the considerations and practices described should not be considered inclusive of all proper considerations and practices or exclusive of others that are reasonably directed to obtaining the same goal. In determining the value of any practice, clinicians, laboratories, and journals should apply their own professional standards and judgment to the specific circumstances presented.

    更新日期:2018-01-12
  • Arterial tortuosity syndrome: 40 new families and literature review
    Genet. Med. (IF 8.229) Pub Date : 2018-01-11
    Aude Beyens, Juliette Albuisson, Annekatrien Boel, Mazen Al-Essa, Waheed Al-Manea, Damien Bonnet, Ozlem Bostan, Odile Boute, Tiffany Busa, Nathalie Canham, Ergun Cil, Paul J Coucke, Margot A Cousin, Majed Dasouki, Julie De Backer, Anne De Paepe, Sofie De Schepper, Deepthi De Silva, Koenraad Devriendt, Inge De Wandele, David R Deyle, Harry Dietz, Sophie Dupuis-Girod, Eudice Fontenot, Björn Fischer-Zirnsak, Alper Gezdirici, Jamal Ghoumid, Fabienne Giuliano, Neus Baena Diéz, Mohammed Z Haider, Joshua S Hardin, Xavier Jeunemaitre, Eric W Klee, Uwe Kornak, Manuel F Landecho, Anne Legrand, Bart Loeys, Stanislas Lyonnet, Helen Michael, Pamela Moceri, Shehla Mohammed, Laura Muiño-Mosquera, Sheela Nampoothiri, Karin Pichler, Katrina Prescott, Anna Rajeb, Maria Ramos-Arroyo, Massimiliano Rossi, Mustafa Salih, Mohammed Z Seidahmed, Elise Schaefer, Elisabeth Steichen-Gersdorf, Sehime Temel, Fahrettin Uysal, Marine Vanhomwegen, Lut Van Laer, Lionel Van Maldergem, David Warner, Andy Willae..

    We delineate the clinical spectrum and describe the histology in arterial tortuosity syndrome (ATS), a rare connective tissue disorder characterized by tortuosity of the large and medium-sized arteries, caused by mutations in SLC2A10.

    更新日期:2018-01-12
  • CORRIGENDUM: Novel findings with reassessment of exome data: implications for validation testing and interpretation of genomic data
    Genet. Med. (IF 8.229) Pub Date : 2018-01-11
    Kristin McDonald Gibson, Addie Nesbitt, Kajia Cao, Zhenming Yu, Elizabeth Denenberg, Elizabeth DeChene, Qiaoning Guan, Elizabeth Bhoj, Xiangdong Zhou, Bo Zhang, Chao Wu, Holly Dubbs, Alisha Wilkens, Livija Medne, Emma Bedoukian, Peter S White, Jeffrey Pennington, Minjie Lou, Laura Conlin, Dimitri Monos, Mahdi Sarmady, Eric Marsh, Elaine Zackai, Nancy Spinner, Ian Krantz, Matt Deardorff, Avni Santani

    CORRIGENDUM: Novel findings with reassessment of exome data: implications for validation testing and interpretation of genomic data CORRIGENDUM: Novel findings with reassessment of exome data: implications for validation testing and interpretation of genomic data, Published online: 11 January 2018; doi:10.1038/gim.2017.264 CORRIGENDUM: Novel findings with reassessment of exome data: implications for validation testing and interpretation of genomic data

    更新日期:2018-01-12
  • Cost-effectiveness and comparative effectiveness of cancer risk management strategies in BRCA1/2 mutation carriers: a systematic review
    Genet. Med. (IF 8.229) Pub Date : 2018-01-11
    Lara Petelin, Alison H Trainer, Gillian Mitchell, Danny Liew, Paul A James

    To review the evidence for the effectiveness and cost-effectiveness of cancer risk management interventions for BRCA carriers.

    更新日期:2018-01-12
  • Making new genetic diagnoses with old data: iterative reanalysis and reporting from genome-wide data in 1,133 families with developmental disorders
    Genet. Med. (IF 8.229) Pub Date : 2018-01-11
    Caroline F Wright, Jeremy F McRae, Stephen Clayton, Giuseppe Gallone, Stuart Aitken, Tomas W FitzGerald, Philip Jones, Elena Prigmore, Diana Rajan, Jenny Lord, Alejandro Sifrim, Rosemary Kelsell, Michael J Parker, Jeffrey C Barrett, Matthew E Hurles, David R FitzPatrick, Helen V Firth

    Given the rapid pace of discovery in rare disease genomics, it is likely that improvements in diagnostic yield can be made by systematically reanalyzing previously generated genomic sequence data in light of new knowledge.

    更新日期:2018-01-12
  • The differential diagnosis of a TP53 genetic testing result
    Genet. Med. (IF 8.229) Pub Date : 2018-01-11
    Suzanne P MacFarland, Kara N Maxwell

    The differential diagnosis of a TP53 genetic testing result The differential diagnosis of a TP53 genetic testing result, Published online: 11 January 2018; doi:10.1038/gim.2017.250 The differential diagnosis of a TP53 genetic testing result

    更新日期:2018-01-12
  • Response to Wald et al
    Genet. Med. (IF 8.229) Pub Date : 2018-01-11
    Clare-Louise Walker

    Response to Wald et al Response to Wald et al, Published online: 11 January 2018; doi:10.1038/gim.2017.252 Response to Wald et al

    更新日期:2018-01-12
  • Erratum: In-depth investigations of adolescents and adults with holoprosencephaly identify unique characteristics
    Genet. Med. (IF 8.229) Pub Date : 2018-01-09
    Karin Weiss, Paul Kruszka, Maria J Guillen Sacoto, Yonit A Addissie, Donald W Hadley, Casey K Hadssal, Bethany Stokes, Ping Hu, Ariel F Martinez, 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, Maximilian Muenke

    Erratum: In-depth investigations of adolescents and adults with holoprosencephaly identify unique characteristics Erratum: In-depth investigations of adolescents and adults with holoprosencephaly identify unique characteristics, Published online: 09 January 2018; doi:10.1038/gim.2017.183 Erratum: In-depth investigations of adolescents and adults with holoprosencephaly identify unique characteristics

    更新日期:2018-01-10
  • In This Issue
    Genet. Med. (IF 8.229) Pub Date : 2018-01-09

    In This Issue In This Issue, Published online: 09 January 2018; doi:10.1038/gim.2017.237 In This Issue

    更新日期:2018-01-10
  • News Briefs
    Genet. Med. (IF 8.229) Pub Date : 2018-01-09

    News Briefs News Briefs, Published online: 09 January 2018; doi:10.1038/gim.2017.248 News Briefs

    更新日期:2018-01-10
  • Representing a “revolution”: how the popular press has portrayed personalized medicine
    Genet. Med. (IF 8.229) Pub Date : 2018-01-04
    Alessandro R Marcon, Mark Bieber, Timothy Caulfield

    This study investigated the portrayal of “personalized” and “precision” medicine (PM) in North American news over the past decade. Content analysis of print and online news was conducted to determine how PM has been defined and to identify the frames used to discuss PM, including associated topics, benefits, and concerns.

    更新日期:2018-01-05
  • Urine cell-free DNA is a biomarker for nephroblastomatosis or Wilms tumor in PIK3CA-related overgrowth spectrum (PROS)
    Genet. Med. (IF 8.229) Pub Date : 2018-01-04
    Marta Biderman Waberski, Marjorie Lindhurst, Kim M Keppler-Noreuil, Julie C Sapp, Laura Baker, Karen W Gripp, Denise M Adams, Leslie G Biesecker

    We set out to facilitate the molecular diagnosis of patients with PIK3CA-related overgrowth spectrum (PROS), a heterogeneous somatic disorder characterized by variable presentations of segmental overgrowth, vascular malformations, skin lesions, and nephroblastomatosis, rare precursor lesions to Wilms tumor. Molecular diagnosis of PROS is challenging due to its mosaic nature, often requiring invasive biopsies.

    更新日期:2018-01-05
  • Modeling the ACMG/AMP variant classification guidelines as a Bayesian classification framework
    Genet. Med. (IF 8.229) Pub Date : 2018-01-04
    Sean V Tavtigian, Marc S Greenblatt, Steven M Harrison, Robert L Nussbaum, Snehit A Prabhu, Kenneth M Boucher, Leslie G Biesecker

    We evaluated the American College of Medical Genetics and Genomics/Association for Molecular Pathology (ACMG/AMP) variant pathogenicity guidelines for internal consistency and compatibility with Bayesian statistical reasoning.

    更新日期:2018-01-05
  • Phenotype and genotype of 87 patients with Mowat–Wilson syndrome and recommendations for care
    Genet. Med. (IF 8.229) Pub Date : 2018-01-04
    Ivan Ivanovski, Olivera Djuric, Stefano Giuseppe Caraffi, Daniela Santodirocco, Marzia Pollazzon, Simonetta Rosato, Duccio Maria Cordelli, Ebtesam Abdalla, Patrizia Accorsi, Margaret P Adam, Paola Francesca Ajmone, Magdalena Badura-Stronka, Chiara Baldo, Maddalena Baldi, Allan Bayat, Stefania Bigoni, Federico Bonvicini, Jeroen Breckpot, Bert Callewaert, Guido Cocchi, Goran Cuturilo, Daniele De Brasi, Koenraad Devriendt, Mary Beth Dinulos, Tina Duelund Hjortshøj, Roberta Epifanio, Francesca Faravelli, Agata Fiumara, Debora Formisano, Lucio Giordano, Marina Grasso, Sabine Grønborg, Alessandro Iodice, Lorenzo Iughetti, Vladimir Kuburovic, Anna Kutkowska-Kazmierczak, Didier Lacombe, Caterina Lo Rizzo, Anna Luchetti, Baris Malbora, Isabella Mammi, Francesca Mari, Giulia Montorsi, Sebastien Moutton, Rikke S Møller, Petra Muschke, Jens Erik Klint Nielsen, Ewa Obersztyn, Chiara Pantaleoni, Alessandro Pellicciari, Maria Antonietta Pisanti, Igor Prpic, Maria Luisa Poch-Olive, Federico ..

    Mowat–Wilson syndrome (MWS) is a rare intellectual disability/multiple congenital anomalies syndrome caused by heterozygous mutation of the ZEB2 gene. It is generally underestimated because its rarity and phenotypic variability sometimes make it difficult to recognize. Here, we aimed to better delineate the phenotype, natural history, and genotype–phenotype correlations of MWS.

    更新日期:2018-01-05
  • CORRIGENDUM: The genetic basis of classic nonketotic hyperglycinemia due to mutations in GLDC and AMT
    Genet. Med. (IF 8.229) Pub Date : 2018-01-04
    Curtis R Coughlin II, Michael A Swanson, Kathryn Kronquist, Cécile Acquaviva, Tim Hutchin, Pilar Rodríguez-Pombo, Marja-Leena Väisänen, Elaine Spector, Geralyn Creadon-Swindell, Ana M Brás-Goldberg, Elisa Rahikkala, Jukka S Moilanen, Vincent Mahieu, Gert Matthijs, Irene Bravo-Alonso, Celia Pérez-Cerdá, Magdalena Ugarte, Christine Vianey-Saban, Gunter H Scharer, Johan L K Van Hove

    CORRIGENDUM: The genetic basis of classic nonketotic hyperglycinemia due to mutations in GLDC and AMT CORRIGENDUM: The genetic basis of classic nonketotic hyperglycinemia due to mutations in GLDC and AMT, Published online: 04 January 2018; doi:10.1038/gim.2017.232 CORRIGENDUM: The genetic basis of classic nonketotic hyperglycinemia due to mutations in GLDC and AMT

    更新日期:2018-01-05
  • Adaptation and validation of the ACMG/AMP variant classification framework for MYH7-associated inherited cardiomyopathies: recommendations by ClinGen’s Inherited Cardiomyopathy Expert Panel
    Genet. Med. (IF 8.229) Pub Date : 2018-01-04
    Melissa A Kelly, Colleen Caleshu, Ana Morales, Jillian Buchan, Zena Wolf, Steven M Harrison, Stuart Cook, Mitchell W Dillon, John Garcia, Eden Haverfield, Jan D H Jongbloed, Daniela Macaya, Arjun Manrai, Kate Orland, Gabriele Richard, Katherine Spoonamore, Matthew Thomas, Kate Thomson, Lisa M Vincent, Roddy Walsh, Hugh Watkins, Nicola Whiffin, Jodie Ingles, J Peter van Tintelen, Christopher Semsarian, James S Ware, Ray Hershberger, Birgit Funke

    Integrating genomic sequencing in clinical care requires standardization of variant interpretation practices. The Clinical Genome Resource has established expert panels to adapt the American College of Medical Genetics and Genomics/Association for Molecular Pathology classification framework for specific genes and diseases. The Cardiomyopathy Expert Panel selected MYH7, a key contributor to inherited cardiomyopathies, as a pilot gene to develop a broadly applicable approach.

    更新日期:2018-01-05
  • Proposed outcomes measures for state public health genomic programs
    Genet. Med. (IF 8.229) Pub Date : 2018-01-04
    Debra Lochner Doyle, Mindy Clyne, Juan L Rodriguez, Deborah L Cragun, Laura Senier, Georgia Hurst, Kee Chan, David A Chambers

    To assess the implementation of evidence-based genomic medicine and its population-level impact on health outcomes and to promote public health genetics interventions, in 2015 the Roundtable on Genomics and Precision Health of the National Academies of Sciences, Engineering, and Medicine formed an action collaborative, the Genomics and Public Health Action Collaborative (GPHAC). This group engaged key stakeholders from public/population health agencies, along with experts in the fields of health disparities, health literacy, implementation science, medical genetics, and patient advocacy.

    更新日期:2018-01-05
  • Genetic analysis of CHARGE syndrome identifies overlapping molecular biology
    Genet. Med. (IF 8.229) Pub Date : 2018-01-04
    Amanda Moccia, Anshika Srivastava, Jennifer M Skidmore, John A Bernat, Marsha Wheeler, Jessica X Chong, Deborah Nickerson, Michael Bamshad, Margaret A Hefner, Donna M Martin, Stephanie L Bielas

    CHARGE syndrome is an autosomal-dominant, multiple congenital anomaly condition characterized by vision and hearing loss, congenital heart disease, and malformations of craniofacial and other structures. Pathogenic variants in CHD7, encoding adenosine triphosphate–dependent chromodomain helicase DNA binding protein 7, are present in the majority of affected individuals. However, no causal variant can be found in 5–30% (depending on the cohort) of individuals with a clinical diagnosis of CHARGE syndrome.

    更新日期:2018-01-05
  • Metaphors matter: from biobank to a library of medical information
    Genet. Med. (IF 8.229) Pub Date : 2017-12-21
    Mildred K Cho, Nina Varsava, Stephanie A Kraft, Gary Ashwal, Katie Gillespie, David Magnus, Kelly E Ormond, Alex Thomas, Benjamin S Wilfond, Sandra S -J Lee

    Metaphors matter: from biobank to a library of medical information Metaphors matter: from biobank to a library of medical information, Published online: 21 December 2017; doi:10.1038/gim.2017.204 Metaphors matter: from biobank to a library of medical information

    更新日期:2017-12-22
  • CGG repeat length and AGG interruptions as indicators of fragile X–associated diminished ovarian reserve
    Genet. Med. (IF 8.229) Pub Date : 2017-12-21
    Jovana Lekovich, Limor Man, Kangpu Xu, Chelsea Canon, Debra Lilienthal, Joshua D Stewart, Nigel Pereira, Zev Rosenwaks, Jeannine Gerhardt

    Fragile X premutation (PM) carriers may experience difficulties conceiving a child probably due to fragile X–associated diminished ovarian reserve (FXDOR). We investigated which subgroups of carriers with a PM are at higher risk of FXDOR, and whether the number of AGG interruptions within the repeat sequence further ameliorates the risk.

    更新日期:2017-12-22
  • Reinterpretation of sequence variants: one diagnostic laboratory’s experience, and the need for standard guidelines
    Genet. Med. (IF 8.229) Pub Date : 2017-12-14
    Caitlin Chisholm, Hussein Daoud, Mahdi Ghani, Gabrielle Mettler, Jean McGowan-Jordan, Liz Sinclair-Bourque, Amanda Smith, Olga Jarinova

    Reinterpretation of sequence variants: one diagnostic laboratory’s experience, and the need for standard guidelines Reinterpretation of sequence variants: one diagnostic laboratory’s experience, and the need for standard guidelines, Published online: 14 December 2017; doi:10.1038/gim.2017.191 Reinterpretation of sequence variants: one diagnostic laboratory’s experience, and the need for standard guidelines

    更新日期:2017-12-15
  • From public health genomics to precision public health: a 20-year journey
    Genet. Med. (IF 8.229) Pub Date : 2017-12-14
    Muin J Khoury, M Scott Bowen, Mindy Clyne, W David Dotson, Marta L Gwinn, Ridgely Fisk Green, Katherine Kolor, Juan L Rodriguez, Anja Wulf, Wei Yu

    From public health genomics to precision public health: a 20-year journey From public health genomics to precision public health: a 20-year journey, Published online: 14 December 2017; doi:10.1038/gim.2017.211 From public health genomics to precision public health: a 20-year journey

    更新日期:2017-12-15
  • A systematic analysis of online marketing materials used by providers of expanded carrier screening
    Genet. Med. (IF 8.229) Pub Date : 2017-12-14
    Davit Chokoshvili, Pascal Borry, Danya F Vears

    A systematic analysis of online marketing materials used by providers of expanded carrier screening A systematic analysis of online marketing materials used by providers of expanded carrier screening, Published online: 14 December 2017; doi:10.1038/gim.2017.222 A systematic analysis of online marketing materials used by providers of expanded carrier screening

    更新日期:2017-12-15
  • Response to Metcalfe et al.
    Genet. Med. (IF 8.229) Pub Date : 2017-12-14
    David P Dimmock

    Response to Metcalfe et al. Response to Metcalfe et al., Published online: 14 December 2017; doi:10.1038/gim.2017.208 Response to Metcalfe et al.

    更新日期:2017-12-15
  • ERRATUM: Laboratory diagnosis of biotinidase deficiency, 2017 update: a technical standard and guideline of the American College of Medical Genetics and Genomics
    Genet. Med. (IF 8.229) Pub Date : 2017-12-14
    Erin T Strovel, Tina M Cowan, Anna I Scott, Barry Wolf

    ERRATUM: Laboratory diagnosis of biotinidase deficiency, 2017 update: a technical standard and guideline of the American College of Medical Genetics and Genomics ERRATUM: Laboratory diagnosis of biotinidase deficiency, 2017 update: a technical standard and guideline of the American College of Medical Genetics and Genomics, Published online: 14 December 2017; doi:10.1038/gim.2017.201 ERRATUM: Laboratory diagnosis of biotinidase deficiency, 2017 update: a technical standard and guideline of the American College of Medical Genetics and Genomics

    更新日期:2017-12-15
  • Clinically impactful differences in variant interpretation between clinicians and testing laboratories: a single-center experience
    Genet. Med. (IF 8.229) Pub Date : 2017-12-14
    Austin Bland, Elizabeth A Harrington, Kyla Dunn, Mitchel Pariani, Julia C K Platt, Megan E Grove, Colleen Caleshu

    Clinically impactful differences in variant interpretation between clinicians and testing laboratories: a single-center experience Clinically impactful differences in variant interpretation between clinicians and testing laboratories: a single-center experience, Published online: 14 December 2017; doi:10.1038/gim.2017.212 Clinically impactful differences in variant interpretation between clinicians and testing laboratories: a single-center experience

    更新日期:2017-12-15
  • In This Issue
    Genet. Med. (IF 8.229) Pub Date : 2017-12-07

    In This Issue In This Issue, Published online: 07 December 2017; doi:10.1038/gim.2017.202 In This Issue

    更新日期:2017-12-15
  • CORRIGENDUM: Sources of discordance among germ-line variant classifications in ClinVar
    Genet. Med. (IF 8.229) Pub Date : 2017-12-07
    Shan Yang, Stephen E Lincoln, Yuya Kobayashi, Keith Nykamp, Robert L Nussbaum, Scott Topper

    CORRIGENDUM: Sources of discordance among germ-line variant classifications in ClinVar CORRIGENDUM: Sources of discordance among germ-line variant classifications in ClinVar, Published online: 07 December 2017; doi:10.1038/gim.2017.198 CORRIGENDUM: Sources of discordance among germ-line variant classifications in ClinVar

    更新日期:2017-12-15
  • Observed frequency and challenges of variant reclassification in a hereditary cancer clinic
    Genet. Med. (IF 8.229) Pub Date : 2017-12-07
    Sarah Macklin, Nisha Durand, Paldeep Atwal, Stephanie Hines

    Observed frequency and challenges of variant reclassification in a hereditary cancer clinic Observed frequency and challenges of variant reclassification in a hereditary cancer clinic, Published online: 07 December 2017; doi:10.1038/gim.2017.207 Observed frequency and challenges of variant reclassification in a hereditary cancer clinic

    更新日期:2017-12-12
  • Follow-up status during the first 5 years of life for metabolic disorders on the federal Recommended Uniform Screening Panel
    Genet. Med. (IF 8.229) Pub Date : 2017-12-07
    Lisa Feuchtbaum, Juan Yang, Robert Currier

    Follow-up status during the first 5 years of life for metabolic disorders on the federal Recommended Uniform Screening Panel Follow-up status during the first 5 years of life for metabolic disorders on the federal Recommended Uniform Screening Panel, Published online: 07 December 2017; doi:10.1038/gim.2017.199 Follow-up status during the first 5 years of life for metabolic disorders on the federal Recommended Uniform Screening Panel

    更新日期:2017-12-12
  • News Briefs
    Genet. Med. (IF 8.229) Pub Date : 2017-12-07

    News Briefs News Briefs, Published online: 07 December 2017; doi:10.1038/gim.2017.225 News Briefs

    更新日期:2017-12-12
  • Cherchez la femme: maternal incidental findings can explain discordant prenatal cell-free DNA sequencing results
    Genet. Med. (IF 8.229) Pub Date : 2017-12-07
    Diana W Bianchi

    Cherchez la femme: maternal incidental findings can explain discordant prenatal cell-free DNA sequencing results Cherchez la femme: maternal incidental findings can explain discordant prenatal cell-free DNA sequencing results, Published online: 07 December 2017; doi:10.1038/gim.2017.219 Cherchez la femme: maternal incidental findings can explain discordant prenatal cell-free DNA sequencing results

    更新日期:2017-12-12
  • Fragile X population carrier screening
    Genet. Med. (IF 8.229) Pub Date : 2017-12-07
    Sylvia A Metcalfe, Martin B Delatycki, Jonathan Cohen, Alison D Archibald, Jon D Emery

    Fragile X population carrier screening Fragile X population carrier screening, Published online: 07 December 2017; doi:10.1038/gim.2017.209 Fragile X population carrier screening

    更新日期:2017-12-12
  • Mosaic disorders and the Taxonomy of Human Disease
    Genet. Med. (IF 8.229) Pub Date : 2017-12-07
    Leslie G Biesecker

    Mosaic disorders and the Taxonomy of Human Disease Mosaic disorders and the Taxonomy of Human Disease, Published online: 07 December 2017; doi:10.1038/gim.2017.213 Mosaic disorders and the Taxonomy of Human Disease

    更新日期:2017-12-12
Some contents have been Reproduced with permission of the American Chemical Society.
Some contents have been Reproduced by permission of The Royal Society of Chemistry.
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