Works matching IS 10597794 AND DT 2018 AND VI 39 AND IP 11

Results: 28
    1

    Cover Image, Volume 39, Issue 11.

    Published in:
    Human Mutation, 2018, v. 39, n. 11, p. i, doi. 10.1002/humu.23662
    By:
    • Zastrow, Diane B.;
    • Baudet, Heather;
    • Shen, Wei;
    • Thomas, Amanda;
    • Si, Yue;
    • Weaver, Meredith A.;
    • Lager, Angela M.;
    • Liu, Jixia;
    • Mangels, Rachel;
    • Dwight, Selina S.;
    • Wright, Matt W.;
    • Dobrowolski, Steven F.;
    • Eilbeck, Karen;
    • Enns, Gregory M.;
    • Feigenbaum, Annette;
    • Lichter‐Konecki, Uta;
    • Lyon, Elaine;
    • Pasquali, Marzia;
    • Watson, Michael;
    • Blau, Nenad
    Publication type:
    Article
    2
    3

    Adapting crowdsourced clinical cancer curation in CIViC to the ClinGen minimum variant level data community‐driven standards.

    Published in:
    Human Mutation, 2018, v. 39, n. 11, p. 1721, doi. 10.1002/humu.23651
    By:
    • Danos, Arpad M.;
    • Ritter, Deborah I.;
    • Wagner, Alex H.;
    • Krysiak, Kilannin;
    • Sonkin, Dmitriy;
    • Micheel, Christine;
    • McCoy, Matthew;
    • Rao, Shruti;
    • Raca, Gordana;
    • Boca, Simina M.;
    • Roy, Angshumoy;
    • Barnell, Erica K.;
    • McMichael, Joshua F.;
    • Kiwala, Susanna;
    • Coffman, Adam C.;
    • Kujan, Lynzey;
    • Kulkarni, Shashikant;
    • Griffith, Malachi;
    • Madhavan, Subha;
    • Griffith, Obi L.
    Publication type:
    Article
    4

    Specifications of the ACMG/AMP variant curation guidelines for the analysis of germline CDH1 sequence variants.

    Published in:
    Human Mutation, 2018, v. 39, n. 11, p. 1553, doi. 10.1002/humu.23650
    By:
    • Lee, Kristy;
    • Krempely, Kate;
    • Roberts, Maegan E.;
    • Anderson, Michael J.;
    • Carneiro, Fatima;
    • Chao, Elizabeth;
    • Dixon, Katherine;
    • Figueiredo, Joana;
    • Ghosh, Rajarshi;
    • Huntsman, David;
    • Kaurah, Pardeep;
    • Kesserwan, Chimene;
    • Landrith, Tyler;
    • Li, Shuwei;
    • Mensenkamp, Arjen R.;
    • Oliveira, Carla;
    • Pardo, Carolina;
    • Pesaran, Tina;
    • Richardson, Matthew;
    • Slavin, Thomas P.
    Publication type:
    Article
    5

    Unique aspects of sequence variant interpretation for inborn errors of metabolism (IEM): The ClinGen IEM Working Group and the Phenylalanine Hydroxylase Gene.

    Published in:
    Human Mutation, 2018, v. 39, n. 11, p. 1569, doi. 10.1002/humu.23649
    By:
    • Zastrow, Diane B.;
    • Baudet, Heather;
    • Shen, Wei;
    • Thomas, Amanda;
    • Si, Yue;
    • Weaver, Meredith A.;
    • Lager, Angela M.;
    • Liu, Jixia;
    • Mangels, Rachel;
    • Dwight, Selina S.;
    • Wright, Matt W.;
    • Dobrowolski, Steven F.;
    • Eilbeck, Karen;
    • Enns, Gregory M.;
    • Feigenbaum, Annette;
    • Lichter‐Konecki, Uta;
    • Lyon, Elaine;
    • Pasquali, Marzia;
    • Watson, Michael;
    • Blau, Nenad
    Publication type:
    Article
    6
    7

    ClinGen Variant Curation Expert Panel experiences and standardized processes for disease and gene‐level specification of the ACMG/AMP guidelines for sequence variant interpretation.

    Published in:
    Human Mutation, 2018, v. 39, n. 11, p. 1614, doi. 10.1002/humu.23645
    By:
    • Rivera‐Muñoz, Edgar A.;
    • Milko, Laura V.;
    • Harrison, Steven M.;
    • Azzariti, Danielle R.;
    • Kurtz, C. Lisa;
    • Lee, Kristy;
    • Mester, Jessica L.;
    • Weaver, Meredith A.;
    • Currey, Erin;
    • Craigen, William;
    • Eng, Charis;
    • Funke, Birgit;
    • Hegde, Madhuri;
    • Hershberger, Ray E.;
    • Mao, Rong;
    • Steiner, Robert D.;
    • Vincent, Lisa M.;
    • Martin, Christa L.;
    • Plon, Sharon E.;
    • Ramos, Erin
    Publication type:
    Article
    8

    ClinGen Allele Registry links information about genetic variants.

    Published in:
    Human Mutation, 2018, v. 39, n. 11, p. 1690, doi. 10.1002/humu.23637
    By:
    • Pawliczek, Piotr;
    • Patel, Ronak Y.;
    • Ashmore, Lillian R.;
    • Jackson, Andrew R.;
    • Bizon, Chris;
    • Nelson, Tristan;
    • Powell, Bradford;
    • Freimuth, Robert R.;
    • Strande, Natasha;
    • Shah, Neethu;
    • Paithankar, Sameer;
    • Wright, Matt W.;
    • Dwight, Selina;
    • Zhen, Jimmy;
    • Landrum, Melissa;
    • McGarvey, Peter;
    • Babb, Larry;
    • Plon, Sharon E.;
    • Milosavljevic, Aleksandar
    Publication type:
    Article
    9

    Scaling resolution of variant classification differences in ClinVar between 41 clinical laboratories through an outlier approach.

    Published in:
    Human Mutation, 2018, v. 39, n. 11, p. 1641, doi. 10.1002/humu.23643
    By:
    • Harrison, Steven M.;
    • Dolinksy, Jill S.;
    • Chen, Wenjie;
    • Collins, Christin D.;
    • Das, Soma;
    • Deignan, Joshua L.;
    • Garber, Kathryn B.;
    • Garcia, John;
    • Jarinova, Olga;
    • Knight Johnson, Amy E.;
    • Koskenvuo, Juha W.;
    • Lee, Hane;
    • Mao, Rong;
    • Mar‐Heyming, Rebecca;
    • McFaddin, Andrew S.;
    • Moyer, Krista;
    • Nagan, Narasimhan;
    • Rentas, Stefan;
    • Santani, Avni B.;
    • Seppälä, Eija H.
    Publication type:
    Article
    10
    11
    12

    The ClinGen Epilepsy Gene Curation Expert Panel—Bridging the divide between clinical domain knowledge and formal gene curation criteria.

    Published in:
    Human Mutation, 2018, v. 39, n. 11, p. 1476, doi. 10.1002/humu.23632
    By:
    • Helbig, Ingo;
    • Riggs, Erin Rooney;
    • Barry, Carrie‐Anne;
    • Klein, Karl Martin;
    • Dyment, David;
    • Thaxton, Courtney;
    • Sadikovic, Bekim;
    • Sands, Tristan T.;
    • Wagnon, Jacy L.;
    • Liaquat, Khalida;
    • Cilio, Maria Roberta;
    • Mirzaa, Ghayda;
    • Park, Kristen;
    • Axeen, Erika;
    • Butler, Elizabeth;
    • Bardakjian, Tanya M.;
    • Striano, Pasquale;
    • Poduri, Annapurna;
    • Siegert, Rebecca K.;
    • Grant, Andrew R.
    Publication type:
    Article
    13

    The clinical imperative for inclusivity: Race, ethnicity, and ancestry (REA) in genomics.

    Published in:
    Human Mutation, 2018, v. 39, n. 11, p. 1713, doi. 10.1002/humu.23644
    By:
    • Popejoy, Alice B.;
    • Ritter, Deborah I.;
    • Crooks, Kristy;
    • Currey, Erin;
    • Fullerton, Stephanie M.;
    • Hindorff, Lucia A.;
    • Koenig, Barbara;
    • Ramos, Erin M.;
    • Sorokin, Elena P.;
    • Wand, Hannah;
    • Wright, Mathew W.;
    • Zou, James;
    • Gignoux, Christopher R.;
    • Bonham, Vence L.;
    • Plon, Sharon E.;
    • Bustamante, Carlos D.
    Publication type:
    Article
    14
    15

    ClinVar database of global familial hypercholesterolemia‐associated DNA variants.

    Published in:
    Human Mutation, 2018, v. 39, n. 11, p. 1631, doi. 10.1002/humu.23634
    By:
    • Iacocca, Michael A.;
    • Chora, Joana R.;
    • Carrié, Alain;
    • Freiberger, Tomáš;
    • Leigh, Sarah E.;
    • Defesche, Joep C.;
    • Kurtz, C. Lisa;
    • DiStefano, Marina T.;
    • Santos, Raul D.;
    • Humphries, Steve E.;
    • Mata, Pedro;
    • Jannes, Cinthia E.;
    • Hooper, Amanda J.;
    • Wilemon, Katherine A.;
    • Benlian, Pascale;
    • O'Connor, Robert;
    • Garcia, John;
    • Wand, Hannah;
    • Tichy, Lukáš;
    • Sijbrands, Eric J.
    Publication type:
    Article
    16

    ClinGen's GenomeConnect registry enables patient‐centered data sharing.

    Published in:
    Human Mutation, 2018, v. 39, n. 11, p. 1668, doi. 10.1002/humu.23633
    By:
    • Savatt, Juliann M.;
    • Azzariti, Danielle R.;
    • Faucett, W. Andrew;
    • Harrison, Steven;
    • Hart, Jennifer;
    • Kattman, Brandi;
    • Landrum, Melissa J.;
    • Ledbetter, David H.;
    • Miller, Vanessa Rangel;
    • Palen, Emily;
    • Rehm, Heidi L.;
    • Rhode, Jud;
    • Turner, Stefanie;
    • Vidal, Jo Anne;
    • Wain, Karen E.;
    • Riggs, Erin Rooney;
    • Martin, Christa Lese
    Publication type:
    Article
    17

    Integrating somatic variant data and biomarkers for germline variant classification in cancer predisposition genes.

    Published in:
    Human Mutation, 2018, v. 39, n. 11, p. 1542, doi. 10.1002/humu.23640
    By:
    • Walsh, Michael F.;
    • Ritter, Deborah I.;
    • Kesserwan, Chimene;
    • Sonkin, Dmitriy;
    • Chakravarty, Debyani;
    • Chao, Elizabeth;
    • Ghosh, Rajarshi;
    • Kemel, Yelena;
    • Wu, Gang;
    • Lee, Kristy;
    • Kulkarni, Shashikant;
    • Hedges, Dale;
    • Mandelker, Diana;
    • Ceyhan‐Birsoy, Ozge;
    • Luo, Minjie;
    • Drazer, Michael;
    • Zhang, Liying;
    • Offit, Kenneth;
    • Plon, Sharon E.
    Publication type:
    Article
    18

    Evidence‐based assessments of clinical actionability in the context of secondary findings: Updates from ClinGen's Actionability Working Group.

    Published in:
    Human Mutation, 2018, v. 39, n. 11, p. 1677, doi. 10.1002/humu.23631
    By:
    • Webber, Elizabeth M.;
    • Hunter, Jessica Ezzell;
    • Biesecker, Leslie G.;
    • Buchanan, Adam H.;
    • Clarke, Elizabeth V.;
    • Currey, Erin;
    • Dagan‐Rosenfeld, Orit;
    • Lee, Kristy;
    • Lindor, Noralane M.;
    • Martin, Christa Lese;
    • Milosavljevic, Aleksandar;
    • Mittendorf, Kathleen F.;
    • Muessig, Kristin R.;
    • O'Daniel, Julianne M.;
    • Patel, Ronak Y.;
    • Ramos, Erin M.;
    • Rego, Shannon;
    • Slavotinek, Anne M.;
    • Sobriera, Nara Lygia M.;
    • Weaver, Meredith A.
    Publication type:
    Article
    19

    Expert specification of the ACMG/AMP variant interpretation guidelines for genetic hearing loss.

    Published in:
    Human Mutation, 2018, v. 39, n. 11, p. 1593, doi. 10.1002/humu.23630
    By:
    • Oza, Andrea M.;
    • DiStefano, Marina T.;
    • Hemphill, Sarah E.;
    • Cushman, Brandon J.;
    • Grant, Andrew R.;
    • Siegert, Rebecca K.;
    • Shen, Jun;
    • Chapin, Alex;
    • Boczek, Nicole J.;
    • Schimmenti, Lisa A.;
    • Murry, Jaclyn B.;
    • Hasadsri, Linda;
    • Nara, Kiyomitsu;
    • Kenna, Margaret;
    • Booth, Kevin T.;
    • Azaiez, Hela;
    • Griffith, Andrew;
    • Avraham, Karen B.;
    • Kremer, Hannie;
    • Rehm, Heidi L.
    Publication type:
    Article
    20
    21

    ClinGen advancing genomic data‐sharing standards as a GA4GH driver project.

    Published in:
    Human Mutation, 2018, v. 39, n. 11, p. 1686, doi. 10.1002/humu.23625
    By:
    • Dolman, Lena;
    • Page, Angela;
    • Babb, Lawrence;
    • Freimuth, Robert R.;
    • Arachchi, Harindra;
    • Bizon, Chris;
    • Brush, Matthew;
    • Fiume, Marc;
    • Haendel, Melissa;
    • Hansen, David P.;
    • Milosavljevic, Aleksandar;
    • Patel, Ronak Y.;
    • Pawliczek, Piotr;
    • Yates, Andrew D.;
    • Rehm, Heidi L.
    Publication type:
    Article
    22
    23

    Copy number variant discrepancy resolution using the ClinGen dosage sensitivity map results in updated clinical interpretations in ClinVar.

    Published in:
    Human Mutation, 2018, v. 39, n. 11, p. 1650, doi. 10.1002/humu.23610
    By:
    • Riggs, Erin R.;
    • Nelson, Tristan;
    • Merz, Andrew;
    • Ackley, Todd;
    • Bunke, Brian;
    • Collins, Christin D.;
    • Collinson, Morag N.;
    • Fan, Yao‐Shan;
    • Goodenberger, McKinsey L.;
    • Golden, Denae M.;
    • Haglund‐Hazy, Linda;
    • Krgovic, Danijela;
    • Lamb, Allen N.;
    • Lewis, Zoe;
    • Li, Guang;
    • Liu, Yajuan;
    • Meck, Jeanne;
    • Neufeld‐Kaiser, Whitney;
    • Runke, Cassandra K.;
    • Sanmann, Jennifer N.
    Publication type:
    Article
    24

    Genetic database software as medical devices.

    Published in:
    Human Mutation, 2018, v. 39, n. 11, p. 1702, doi. 10.1002/humu.23621
    By:
    • Thorogood, Adrian;
    • Touré, Seydina B.;
    • Ordish, Johan;
    • Hall, Alison;
    • Knoppers, Bartha
    Publication type:
    Article
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    Issue Information.

    Published in:
    Human Mutation, 2018, v. 39, n. 11, p. 1469, doi. 10.1002/humu.23332
    Publication type:
    Article