Genetics in Medicine

IN THIS ISSUE
In This Issue Roni Dengler  Genetics in Medicine 2019 21 :1673 - 1673; August 01, 2019; 10.1038/s41436-019-0605-z Abstract | Full Text
NEWS
News Roni Dengler  Genetics in Medicine 2019 21 :1674 - 1674; August 01, 2019; 10.1038/s41436-019-0604-0 Abstract | Full Text
SYSTEMATIC REVIEW
Characteristics and evaluation outcomes of genomics curricula for health professional students: a systematic literature review Divya Talwar, Wei-Ju Chen, Yu-Lyu Yeh, Margaret Foster, Salah Al-Shagrawi et al.  Genetics in Medicine 2018 21 :1675 - 1682; December 19, 2018; 10.1038/s41436-018-0386-9 Abstract | Full Text
REVIEW ARTICLE
Marfan syndrome: improved clinical history results in expanded natural history Reed E. Pyeritz  Genetics in Medicine 2018 21 :1683 - 1690; December 21, 2018; 10.1038/s41436-018-0399-4 Abstract | Full Text
Cancer communication research in the era of genomics and precision medicine: a scoping review Kimberly A. Kaphingst, Emily Peterson, Jingsong Zhao, Anna Gaysynsky, Ashley Elrick et al.  Genetics in Medicine 2018 21 :1691 - 1698; December 21, 2018; 10.1038/s41436-018-0402-0 Abstract | Full Text
COMMENT
A survey assessing adoption of the ACMG-AMP guidelines for interpreting sequence variants and identification of areas for continued improvement Annie Niehaus, Danielle R. Azzariti, Steven M. Harrison, Marina T. DiStefano, Sarah E. Hemphill et al.  Genetics in Medicine 2019 21 :1699 - 1701; January 23, 2019; 10.1038/s41436-018-0432-7 Abstract | Full Text
Strategies for Improving Access to Hereditary Cancer Testing: Recommendations from Stakeholders Kaylene Ready, Katherine A. Johansen Taber, Natasha Bonhomme & J. Leonard Lichtenfeld  Genetics in Medicine 2019 21 :1702 - 1704; January 28, 2019; 10.1038/s41436-018-0430-9 Abstract | Full Text
The illusion of polygenic disease risk prediction Nicholas J. Wald & Robert Old  Genetics in Medicine 2019 21 :1705 - 1707; January 12, 2019; 10.1038/s41436-018-0418-5 Abstract | Full Text
ARTICLE
BOADICEA: a comprehensive breast cancer risk prediction model incorporating genetic and nongenetic risk factors Andrew Lee, Nasim Mavaddat, Amber N. Wilcox, Alex P. Cunningham, Tim Carver et al.  Genetics in Medicine 2019 21 :1708 - 1718; January 15, 2019; 10.1038/s41436-018-0406-9 Abstract | Full Text
Next-generation phenotyping using computer vision algorithms in rare genomic neurodevelopmental disorders Roos van der Donk, Sandra Jansen, Janneke H. M. Schuurs-Hoeijmakers, David A. Koolen, Lia C. M. J. Goltstein et al.  Genetics in Medicine 2018 21 :1719 - 1725; December 20, 2018; 10.1038/s41436-018-0404-y Abstract | Full Text
A CRISPR focus on attitudes and beliefs toward somatic genome editing from stakeholders within the sickle cell disease community Anitra Persaud, Stacy Desine, Katherine Blizinsky & Vence L. Bonham  Genetics in Medicine 2018 21 :1726 - 1734; December 24, 2018; 10.1038/s41436-018-0409-6 Abstract | Full Text
Ethnic identity and engagement with genome sequencing research Erin Turbitt, Megan C. Roberts, Brittany M. Hollister, Katie L. Lewis, Leslie G. Biesecker et al.  Genetics in Medicine 2018 21 :1735 - 1743; December 20, 2018; 10.1038/s41436-018-0410-0 Abstract | Full Text
Constructing identities: the implications of DTC ancestry testing for tribal communities Hina Walajahi, David R. Wilson & Sara Chandros Hull  Genetics in Medicine 2019 21 :1744 - 1750; January 21, 2019; 10.1038/s41436-018-0429-2 Abstract | Full Text
Deep-intronic ABCA4 variants explain missing heritability in Stargardt disease and allow correction of splice defects by antisense oligonucleotides Riccardo Sangermano, Alejandro Garanto, Mubeen Khan, Esmee H. Runhart, Miriam Bauwens et al.  Genetics in Medicine 2019 21 :1751 - 1760; January 15, 2019; 10.1038/s41436-018-0414-9 Abstract | Full Text
ABCA4-associated disease as a model for missing heritability in autosomal recessive disorders: novel noncoding splice, cis-regulatory, structural, and recurrent hypomorphic variants Miriam Bauwens, Alejandro Garanto, Riccardo Sangermano, Sarah Naessens, Nicole Weisschuh et al.  Genetics in Medicine 2019 21 :1761 - 1771; January 23, 2019; 10.1038/s41436-018-0420-y Abstract | Full Text
A suite of automated sequence analyses reduces the number of candidate deleterious variants and reveals a difference between probands and unaffected siblings Fangning Gu, Anchi Wu, M. Grace Gordon, Lukas Vlahos, Shane Macnamara et al.  Genetics in Medicine 2019 21 :1772 - 1780; January 31, 2019; 10.1038/s41436-019-0434-0 Abstract | Full Text
Estimating the burden and economic impact of pediatric genetic disease Nina Gonzaludo, John W. Belmont, Vladimir G. Gainullin & Ryan J. Taft  Genetics in Medicine 2018 21 :1781 - 1789; December 20, 2018; 10.1038/s41436-018-0398-5 Abstract | Full Text
Loss of function of SVBP leads to autosomal recessive intellectual disability, microcephaly, ataxia, and hypotonia Zafar Iqbal, Hasan Tawamie, Wei Ba, André Reis, Bassam Al Halak et al.  Genetics in Medicine 2019 21 :1790 - 1796; January 04, 2019; 10.1038/s41436-018-0415-8 Abstract | Full Text
Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies Michael D. Fountain, David S. Oleson, Megan E. Rech, Lara Segebrecht, Jill V. Hunter et al.  Genetics in Medicine 2019 21 :1797 - 1807; January 25, 2019; 10.1038/s41436-019-0433-1 Abstract | Full Text
Transcription alterations of KCNQ1 associated with imprinted methylation defects in the Beckwith–Wiedemann locus Federica Maria Valente, Angela Sparago, Andrea Freschi, Katherine Hill-Harfe, Saskia M. Maas et al.  Genetics in Medicine 2019 21 :1808 - 1820; January 12, 2019; 10.1038/s41436-018-0416-7 Abstract | Full Text
Phenylalanine and tyrosine measurements across gestation by tandem mass spectrometer on dried blood spot cards from normal pregnant women Kim L. McBride, Jill Pluciniczak, Timothy Rhyand & Dennis Bartholomew  Genetics in Medicine 2019 21 :1821 - 1826; January 10, 2019; 10.1038/s41436-018-0407-8 Abstract | Full Text
Revising the Psychiatric Phenotype of Homocystinuria Mohamed A. Almuqbil, Susan E. Waisbren, Harvey L. Levy & Jonathan D. Picker  Genetics in Medicine 2019 21 :1827 - 1831; January 15, 2019; 10.1038/s41436-018-0419-4 Abstract | Full Text
Next-generation sequencing of 32 genes associated with hereditary aortopathies and related disorders of connective tissue in a cohort of 199 patients Sina Renner, Helke Schüler, Malik Alawi, Verena Kolbe, Meike Rybczynski et al.  Genetics in Medicine 2019 21 :1832 - 1841; January 24, 2019; 10.1038/s41436-019-0435-z Abstract | Full Text
CYP2D6-guided opioid therapy improves pain control in CYP2D6 intermediate and poor metabolizers: a pragmatic clinical trial D. Max Smith, Kristin W. Weitzel, Amanda R. Elsey, Taimour Langaee, Yan Gong et al.  Genetics in Medicine 2019 21 :1842 - 1850; January 23, 2019; 10.1038/s41436-018-0431-8 Abstract | Full Text
SPECIAL ARTICLE
Evidence- and consensus-based recommendations for the use of pegvaliase in adults with phenylketonuria Nicola Longo, David Dimmock, Harvey Levy, Krista Viau, Heather Bausell et al.  Genetics in Medicine 2018 21 :1851 - 1867; December 14, 2018; 10.1038/s41436-018-0403-z Abstract | Full Text
BRIEF COMMUNICATION
Biallelic germline nonsense variant of MLH3 underlies polyposis predisposition Alisa Olkinuora, Taina T. Nieminen, Emma Mårtensson, Anna Rohlin, Ari Ristimäki et al.  Genetics in Medicine 2018 21 :1868 - 1873; December 21, 2018; 10.1038/s41436-018-0405-x Abstract | Full Text
Current conditions in medical genetics practice Deborah R. Maiese, Alisha Keehn, Megan Lyon, David Flannery & Michael Watson  Genetics in Medicine 2019 21 :1874 - 1877; January 28, 2019; 10.1038/s41436-018-0417-6 Abstract | Full Text
CORRESPONDENCE
Are women with pathogenic variants in PMS2 and MSH6 really at high lifetime risk of breast cancer? D. G. Evans, E. R. Woodward, F. Lalloo, P. Møller, J. Sampson et al.  Genetics in Medicine 2018 21 :1878 - 1879; December 14, 2018; 10.1038/s41436-018-0401-1 Abstract | Full Text
Response to Evans et al. Maegan E. Roberts, Nur Zeinomar, Benjamin D. Solomon, Mary Beth Terry & Wendy K. Chung  Genetics in Medicine 2018 21 :1880 - 1881; December 19, 2018; 10.1038/s41436-018-0400-2 Abstract | Full Text
45,X mosaicism in a population-based biobank: implications for Turner syndrome Siddharth K. Prakash, Melissa L. Crenshaw, Philippe F. Backeljauw, Michael Silberbach, Cindy Scurlock et al.  Genetics in Medicine 2018 21 :1882 - 1883; December 21, 2018; 10.1038/s41436-018-0411-z Abstract | Full Text
Response to Prakash et al. Marcus A. Tuke, Katherine S. Ruth, Andrew R. Wood, Robin N. Beaumont, Jessica Tyrrell et al.  Genetics in Medicine 2018 21 :1884 - 1885; December 21, 2018; 10.1038/s41436-018-0412-y Abstract | Full Text
Considerations for pharmacogenomic testing in a health system Roseann S. Gammal, Kelly E. Caudle, Teri E. Klein & Mary V. Relling  Genetics in Medicine 2019 21 :1886 - 1887; January 09, 2019; 10.1038/s41436-018-0421-x Abstract | Full Text
Response to Gammal et al. Jason L. Vassy, Annjanette Stone, John T. Callaghan, Margaret Mendes, Laurence J. Meyer et al.  Genetics in Medicine 2019 21 :1888 - 1889; January 12, 2019; 10.1038/s41436-018-0422-9 Abstract | Full Text
Fabry disease cardiac variant IVS4+919 G>A is associated with multiple cardiac gene variants in patients with severe cardiomyopathy and fatal arrhythmia Jyh-Ming Jimmy Juang, Chia-Tung Shun, Yih-Sharng Chen, Wuh-Liang Hwu, Ni-Chung Lee et al.  Genetics in Medicine 2019 21 :1890 - 1891; January 21, 2019; 10.1038/s41436-019-0436-y Abstract | Full Text
Response to Juang et al. Chia-Lin Hsu, Ivan L. Dzhagalov & Dau-Ming Niu  Genetics in Medicine 2019 21 :1892 - 1893; January 22, 2019; 10.1038/s41436-019-0437-x Abstract | Full Text
CORRECTION
Correction to: Accelerating evidence gathering and approval of precision medicine therapies: the FDA takes aim at rare mutations Amalia M. Issa, Adrian Thorogood, Yann Joly & Bartha M. Knoppers  Genetics in Medicine 2018 21 :1894 - 1900; September 04, 2018; 10.1038/s41436-018-0264-5 Abstract | Full Text
Correction: Arterial tortuosity syndrome: 40 new families and literature review Aude Beyens, Juliette Albuisson, Annekatrien Boel, Mazen Al-Essa, Waheed Al-Manea et al.  Genetics in Medicine 2018 21 :1894 - 1895; September 10, 2018; 10.1038/s41436-018-0035-3 Abstract | Full Text
Correction: The effect of NOTCH3 pathogenic variant position on CADASIL disease severity: NOTCH3 EGFr 1–6 pathogenic variant are associated with a more severe phenotype and lower survival compared with EGFr 7–34 pathogenic variant Julie W. Rutten, Bastian J. Van Eijsden, Marco Duering, Eric Jouvent, Christian Opherk et al.  Genetics in Medicine 2018 21 :1895 - 1895; September 20, 2018; 10.1038/s41436-018-0306-z Abstract | Full Text
Correction: The landscape of epilepsy-related GATOR1 variants Sara Baldassari, Fabienne Picard, Nienke E. Verbeek, Marjan van Kempen, Eva H. Brilstra et al.  Genetics in Medicine 2018 21 :1896 - 1896; September 27, 2018; 10.1038/s41436-018-0325-9 Abstract | Full Text
Correction: IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients Cyril Mignot, Aoife C. McMahon, Claire Bar, Philippe M. Campeau, Claire Davidson et al.  Genetics in Medicine 2018 21 :1897 - 1898; October 02, 2018; 10.1038/s41436-018-0327-7 Abstract | Full Text
Correction: Mapping the genomic landscape of inherited retinal disease genes prioritizes genes prone to coding and noncoding copy-number variations Kristof Van Schil, Sarah Naessens, Stijn Van de Sompele, Marjolein Carron, Alexander Aslanidis et al.  Genetics in Medicine 2018 21 :1998 - 1998; October 08, 2018; 10.1038/s41436-018-0305-0 Abstract | Full Text
Correction: TANGO2: expanding the clinical phenotype and spectrum of pathogenic variants Jennifer N. Dines, Katie Golden-Grant, Amy LaCroix, Alison M. Muir, Dianne Laboy Cintrón et al.  Genetics in Medicine 2018 21 :1899 - 1899; October 15, 2018; 10.1038/s41436-018-0336-6 Abstract | Full Text
Correction: Effectiveness of plasma lyso-Gb3 as a biomarker for selecting high-risk patients with Fabry disease from multispecialty clinics for genetic analysis Hiroki Maruyama, Kaori Miyata, Mariko Mikame, Atsumi Taguchi, Chu Guili et al.  Genetics in Medicine 2018 21 :1900 - 1900; September 12, 2018; 10.1038/s41436-018-0258-3 Abstract | Full Text
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