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ClinGen Variant Curation Interface: a variant classification platform for the application of evidence criteria from ACMG/AMP guidelines.
Published in:
Genome Medicine, 2022, v. 14, n. 1, p. 1, doi. 10.1186/s13073-021-01004-8
By:
- Preston, Christine G.;
- Wright, Matt W.;
- Madhavrao, Rao;
- Harrison, Steven M.;
- Goldstein, Jennifer L.;
- Luo, Xi;
- Wand, Hannah;
- Wulf, Bryan;
- Cheung, Gloria;
- Mandell, Mark E.;
- Tong, Howard;
- Cheng, Shaung;
- Iacocca, Michael A.;
- Pineda, Arturo Lopez;
- Popejoy, Alice B.;
- Dalton, Karen;
- Zhen, Jimmy;
- Dwight, Selina S.;
- Babb, Lawrence;
- DiStefano, Marina
Publication type:
Article
Screening and familial characterization of copy-number variations in NR5A1 in 46,XY disorders of sex development and premature ovarian failure.
Published in:
American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 10, p. 2487, doi. 10.1002/ajmg.a.36084
By:
- Harrison, Steven M.;
- Campbell, Ian M.;
- Keays, Melise;
- Granberg, Candace F.;
- Villanueva, Carlos;
- Tannin, Grace;
- Zinn, Andrew R.;
- Castrillon, Diego H.;
- Shaw, Chad A.;
- Stankiewicz, Pawel;
- Baker, Linda A.
Publication type:
Article
Insulin-Like Peptide 3 (INSL3) Serum Concentration During Human Male Fetal Life.
Published in:
Frontiers in Endocrinology, 2019, p. 1, doi. 10.3389/fendo.2019.00596
By:
- Harrison, Steven M.;
- Bush, Nicol Corbin;
- Wang, Yi;
- Mucher, Zachary R.;
- Lorenzo, Armando J.;
- Grimsby, Gwen M.;
- Schlomer, Bruce J.;
- Büllesbach, Erika E.;
- Baker, Linda A.
Publication type:
Article
Best practices for the analytical validation of clinical whole-genome sequencing intended for the diagnosis of germline disease.
Published in:
NPJ Genomic Medicine, 2020, v. 5, n. 1, p. N.PAG, doi. 10.1038/s41525-020-00154-9
By:
- Marshall, Christian R.;
- Chowdhury, Shimul;
- Taft, Ryan J.;
- Lebo, Mathew S.;
- Buchan, Jillian G.;
- Harrison, Steven M.;
- Rowsey, Ross;
- Klee, Eric W.;
- Liu, Pengfei;
- Worthey, Elizabeth A.;
- Jobanputra, Vaidehi;
- Dimmock, David;
- Kearney, Hutton M.;
- Bick, David;
- Kulkarni, Shashikant;
- Taylor, Stacie L.;
- Belmont, John W.;
- Stavropoulos, Dimitri J.;
- Lennon, Niall J.
Publication type:
Article
A homozygous loss-of-function variant in MYH11 in a case with megacystis-microcolon-intestinal hypoperistalsis syndrome.
Published in:
European Journal of Human Genetics, 2015, v. 23, n. 9, p. 1266, doi. 10.1038/ejhg.2014.256
By:
- Gauthier, Julie;
- Ouled Amar Bencheikh, Bouchra;
- Hamdan, Fadi F;
- Harrison, Steven M;
- Baker, Linda A;
- Couture, Françoise;
- Thiffault, Isabelle;
- Ouazzani, Reda;
- Samuels, Mark E;
- Mitchell, Grant A;
- Rouleau, Guy A;
- Michaud, Jacques L;
- Soucy, Jean- François
Publication type:
Article
Prune belly syndrome in surviving males can be caused by Hemizygous missense mutations in the X-linked Filamin A gene.
Published in:
BMC Medical Genetics, 2020, v. 21, n. 1, p. 1, doi. 10.1186/s12881-020-0973-x
By:
- Iqbal, Nida S.;
- Jascur, Thomas A.;
- Harrison, Steven M.;
- Edwards, Angelena B.;
- Smith, Luke T.;
- Choi, Erin S.;
- Arevalo, Michelle K.;
- Chen, Catherine;
- Zhang, Shaohua;
- Kern, Adam J.;
- Scheuerle, Angela E.;
- Sanchez, Emma J.;
- Xing, Chao;
- Baker, Linda A.
Publication type:
Article
Use of "Coldspot" Regions in Variant Classification.
Published in:
Clinical Chemistry, 2020, v. 66, n. 10, p. 1263, doi. 10.1093/clinchem/hvaa133
By:
- Harrison, Steven M.;
- Funke, Birgit
Publication type:
Article
Harmonizing variant classification for return of results in the All of Us Research Program.
Published in:
Human Mutation, 2022, v. 43, n. 8, p. 1114, doi. 10.1002/humu.24317
By:
- Harrison, Steven M.;
- Austin‐Tse, Christina A.;
- Kim, Serra;
- Lebo, Matthew;
- Leon, Annette;
- Murdock, David;
- Radhakrishnan, Aparna;
- Shirts, Brian H.;
- Steeves, Marcie;
- Venner, Eric;
- Gibbs, Richard A.;
- Jarvik, Gail P.;
- Rehm, Heidi L.
Publication type:
Article
Fitting a naturally scaled point system to the ACMG/AMP variant classification guidelines.
Published in:
Human Mutation, 2020, v. 41, n. 10, p. 1734, doi. 10.1002/humu.24088
By:
- Tavtigian, Sean V.;
- Harrison, Steven M.;
- Boucher, Kenneth M.;
- Biesecker, Leslie G.
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
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
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
ClinVar Miner: Demonstrating utility of a Web‐based tool for viewing and filtering ClinVar data.
Published in:
Human Mutation, 2018, v. 39, n. 8, p. 1051, doi. 10.1002/humu.23555
By:
- Henrie, Alex;
- Hemphill, Sarah E.;
- Ruiz‐Schultz, Nicole;
- Cushman, Brandon;
- DiStefano, Marina T.;
- Azzariti, Danielle;
- Harrison, Steven M.;
- Rehm, Heidi L.;
- Eilbeck, Karen
Publication type:
Article
Genetic Abnormalities in FOXP1 Are Associated with Congenital Heart Defects.
Published in:
Human Mutation, 2013, v. 34, n. 9, p. 1226, doi. 10.1002/humu.22366
By:
- Chang, Sheng‐Wei;
- Mislankar, Mona;
- Misra, Chaitali;
- Huang, Nianyuan;
- DaJusta, Daniel G.;
- Harrison, Steven M.;
- McBride, Kim L.;
- Baker, Linda A.;
- Garg, Vidu
Publication type:
Article
ClinVar Is a Critical Resource to Advance Variant Interpretation.
Published in:
Oncologist, 2017, v. 22, n. 12, p. 1562, doi. 10.1634/theoncologist.2017-0246
By:
- Rehm, Heidi L.;
- Harrison, Steven M.;
- Martin, Christa L.
Publication type:
Article
Recommendations for application of the functional evidence PS3/BS3 criterion using the ACMG/AMP sequence variant interpretation framework.
Published in:
Genome Medicine, 2019, v. 12, n. 1, p. 1, doi. 10.1186/s13073-019-0690-2
By:
- Brnich, Sarah E.;
- Abou Tayoun, Ahmad N.;
- Couch, Fergus J.;
- Cutting, Garry R.;
- Greenblatt, Marc S.;
- Heinen, Christopher D.;
- Kanavy, Dona M.;
- Luo, Xi;
- McNulty, Shannon M.;
- Starita, Lea M.;
- Tavtigian, Sean V.;
- Wright, Matt W.;
- Harrison, Steven M.;
- Biesecker, Leslie G.;
- Berg, Jonathan S.;
- On behalf of the Clinical Genome Resource Sequence Variant Interpretation Working Group;
- Brenner, Steven E.;
- Ellard, Sian;
- Karbassi, Izabela;
- Karchin, Rachel
Publication type:
Article
Is 'likely pathogenic' really 90% likely? Reclassification data in ClinVar.
Published in:
Genome Medicine, 2019, v. 11, n. 1, p. N.PAG, doi. 10.1186/s13073-019-0688-9
By:
- Harrison, Steven M.;
- Rehm, Heidi L.
Publication type:
Article
ClinGen Pathogenicity Calculator: a configurable system for assessing pathogenicity of genetic variants.
Published in:
Genome Medicine, 2017, v. 9, p. 1, doi. 10.1186/s13073-016-0391-z
By:
- Patel, Ronak Y.;
- Shah, Neethu;
- Jackson, Andrew R.;
- Ghosh, Rajarshi;
- Pawliczek, Piotr;
- Paithankar, Sameer;
- Baker, Aaron;
- Riehle, Kevin;
- Chen, Hailin;
- Milosavljevic, Sofia;
- Bizon, Chris;
- Rynearson, Shawn;
- Nelson, Tristan;
- Jarvik, Gail P.;
- Rehm, Heidi L.;
- Harrison, Steven M.;
- Azzariti, Danielle;
- Powell, Bradford;
- Babb, Larry;
- Plon, Sharon E.
Publication type:
Article
Genetic sex validation for sample tracking in next-generation sequencing clinical testing.
Published in:
BMC Research Notes, 2024, v. 17, n. 1, p. 1, doi. 10.1186/s13104-024-06723-w
By:
- Hu, Jianhong;
- Korchina, Viktoriya;
- Zouk, Hana;
- Harden, Maegan V.;
- Murdock, David;
- Macbeth, Alyssa;
- Harrison, Steven M.;
- Lennon, Niall;
- Kovar, Christie;
- Balasubramanian, Adithya;
- Zhang, Lan;
- Chandanavelli, Gauthami;
- Pasham, Divya;
- Rowley, Robb;
- Wiley, Ken;
- Smith, Maureen E.;
- Gordon, Adam;
- Jarvik, Gail P.;
- Sleiman, Patrick;
- Kelly, Melissa A.
Publication type:
Article

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