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On the verge of diagnosis: Detection, reporting, and investigation of de novo variants in novel genes identified by clinical sequencing.
Published in:
Human Mutation, 2018, v. 39, n. 11, p. 1505, doi. 10.1002/humu.23646
By:
- Thiffault, Isabelle;
- Cadieux‐Dion, Maxime;
- Farrow, Emily;
- Caylor, Raymond;
- Miller, Neil;
- Soden, Sarah;
- Saunders, Carol
Publication type:
Article
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
ClinGen and ClinVar – Enabling Genomics in Precision Medicine.
Published in:
Human Mutation, 2018, v. 39, n. 11, p. 1473, doi. 10.1002/humu.23654
By:
- Rehm, Heidi L.;
- Berg, Jonathan S.;
- Plon, Sharon E.
Publication type:
Article
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
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
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
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
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
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
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
Updated recommendation for the benign stand‐alone ACMG/AMP criterion.
Published in:
Human Mutation, 2018, v. 39, n. 11, p. 1525, doi. 10.1002/humu.23642
By:
- Ghosh, Rajarshi;
- Harrison, Steven M.;
- Rehm, Heidi L.;
- Plon, Sharon E.;
- Biesecker, Leslie G.
Publication type:
Article
ClinVar at five years: Delivering on the promise.
Published in:
Human Mutation, 2018, v. 39, n. 11, p. 1623, doi. 10.1002/humu.23641
By:
- Landrum, Melissa J.;
- Kattman, Brandi L.
Publication type:
Article
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
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
Gene‐specific criteria for PTEN variant curation: Recommendations from the ClinGen PTEN Expert Panel.
Published in:
Human Mutation, 2018, v. 39, n. 11, p. 1581, doi. 10.1002/humu.23636
By:
- Mester, Jessica L.;
- Ghosh, Rajarshi;
- Pesaran, Tina;
- Huether, Robert;
- Karam, Rachid;
- Hruska, Kathleen S.;
- Costa, Helio A.;
- Lachlan, Katherine;
- Ngeow, Joanne;
- Barnholtz‐Sloan, Jill;
- Sesock, Kaitlin;
- Hernandez, Felicia;
- Zhang, Liying;
- Milko, Laura;
- Plon, Sharon E.;
- Hegde, Madhuri;
- Eng, Charis
Publication type:
Article
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
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
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
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
Recommendations for interpreting the loss of function PVS1 ACMG/AMP variant criterion.
Published in:
Human Mutation, 2018, v. 39, n. 11, p. 1517, doi. 10.1002/humu.23626
By:
- Abou Tayoun, Ahmad N.;
- Pesaran, Tina;
- DiStefano, Marina T.;
- Oza, Andrea;
- Rehm, Heidi L.;
- Biesecker, Leslie G.;
- Harrison, Steven M.
Publication type:
Article
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
Assessing the gene–disease association of 19 genes with the RASopathies using the ClinGen gene curation framework.
Published in:
Human Mutation, 2018, v. 39, n. 11, p. 1485, doi. 10.1002/humu.23624
By:
- Grant, Andrew R.;
- Cushman, Brandon J.;
- Cavé, Hélène;
- Dillon, Mitchell W.;
- Gelb, Bruce D.;
- Gripp, Karen W.;
- Lee, Jennifer A.;
- Mason‐Suares, Heather;
- Rauen, Katherine A.;
- Tartaglia, Marco;
- Vincent, Lisa M.;
- Zenker, Martin
Publication type:
Article
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
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
Quantifying the potential of functional evidence to reclassify variants of uncertain significance in the categorical and Bayesian interpretation frameworks.
Published in:
Human Mutation, 2018, v. 39, n. 11, p. 1531, doi. 10.1002/humu.23609
By:
- Brnich, Sarah E.;
- Rivera‐Muñoz, Edgar A.;
- Berg, Jonathan S.
Publication type:
Article
The value of genomic variant ClinVar submissions from clinical providers: Beyond the addition of novel variants.
Published in:
Human Mutation, 2018, v. 39, n. 11, p. 1660, doi. 10.1002/humu.23607
By:
- Wain, Karen E.;
- Palen, Emily;
- Savatt, Juliann M.;
- Shuman, Devin;
- Finucane, Brenda;
- Seeley, Andrea;
- Challman, Thomas D.;
- Myers, Scott M.;
- Martin, Christa Lese
Publication type:
Article
The progression of the ClinGen gene clinical validity classification over time.
Published in:
Human Mutation, 2018, v. 39, n. 11, p. 1494, doi. 10.1002/humu.23604
By:
- McGlaughon, Jennifer L.;
- Goldstein, Jennifer L.;
- Thaxton, Courtney;
- Hemphill, Sarah E.;
- Berg, Jonathan S.
Publication type:
Article
Issue Information.
Published in:
Human Mutation, 2018, v. 39, n. 11, p. 1469, doi. 10.1002/humu.23332
Publication type:
Article

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