Works matching IS 10597794 AND DT 2022 AND VI 43 AND IP 8

Results: 15

Front Cover, Volume 43, Issue 8.

Published in:

Human Mutation, 2022, v. 43, n. 8, p. i, doi. 10.1002/humu.24442

By:

Laner, Andreas;
Maver, Ales;
den Dunnen, Johan T.

Publication type:

Article

Human Mutation special issue on "Variant Effect Prediction".

Published in:

Human Mutation, 2022, v. 43, n. 8, p. 973, doi. 10.1002/humu.24429

By:

Laner, Andreas;
Maver, Ales;
den Dunnen, Johan T.

Publication type:

Article

Guidelines for clinical interpretation of variant pathogenicity using RNA phenotypes.

Published in:

Human Mutation, 2022, v. 43, n. 8, p. 1056, doi. 10.1002/humu.24416

By:

Smirnov, Dmitrii;
Schlieben, Lea D.;
Peymani, Fatemeh;
Berutti, Riccardo;
Prokisch, Holger

Publication type:

Article

Phenotype‐driven approaches to enhance variant prioritization and diagnosis of rare disease.

Published in:

Human Mutation, 2022, v. 43, n. 8, p. 1071, doi. 10.1002/humu.24380

By:

Jacobsen, Julius O. B.;
Kelly, Catherine;
Cipriani, Valentina;
Research Consortium, Genomics England;
Mungall, Christopher J.;
Reese, Justin;
Danis, Daniel;
Robinson, Peter N.;
Smedley, Damian

Publication type:

Article

Gene–disease relationship evidence: A clinical perspective focusing on ultra‐rare diseases.

Published in:

Human Mutation, 2022, v. 43, n. 8, p. 1082, doi. 10.1002/humu.24367

By:

Santen, Gijs W. E.;
Leitch, Harry G.;
Cobben, Jan

Publication type:

Article

Clinical exome sequencing—Mistakes and caveats.

Published in:

Human Mutation, 2022, v. 43, n. 8, p. 1041, doi. 10.1002/humu.24360

By:

Corominas, Jordi;
Smeekens, Sanne P.;
Nelen, Marcel R.;
Yntema, Helger G.;
Kamsteeg, Erik‐Jan;
Pfundt, Rolph;
Gilissen, Christian

Publication type:

Article

Variant interpretation: UCSC Genome Browser Recommended Track Sets.

Published in:

Human Mutation, 2022, v. 43, n. 8, p. 998, doi. 10.1002/humu.24335

By:

Benet‐Pagès, Anna;
Rosenbloom, Kate R.;
Nassar, Luis R.;
Lee, Christopher M.;
Raney, Brian J.;
Clawson, Hiram;
Schmelter, Daniel;
Casper, Jonathan;
Gonzalez, Jairo Navarro;
Perez, Gerardo;
Lee, Brian T.;
Zweig, Ann S.;
Kent, W. James;
Haeussler, Maximillian;
Kuhn, Robert M.

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

Variant calling: Considerations, practices, and developments.

Published in:

Human Mutation, 2022, v. 43, n. 8, p. 976, doi. 10.1002/humu.24311

By:

Zverinova, Stepanka;
Guryev, Victor

Publication type:

Article

Variant interpretation using population databases: Lessons from gnomAD.

Published in:

Human Mutation, 2022, v. 43, n. 8, p. 1012, doi. 10.1002/humu.24309

By:

Gudmundsson, Sanna;
Singer‐Berk, Moriel;
Watts, Nicholas A.;
Phu, William;
Goodrich, Julia K.;
Solomonson, Matthew;
Rehm, Heidi L.;
MacArthur, Daniel G.;
O'Donnell‐Luria, Anne

Publication type:

Article

Recommendations by the ClinGen Rett/Angelman‐like expert panel for gene‐specific variant interpretation methods.

Published in:

Human Mutation, 2022, v. 43, n. 8, p. 1097, doi. 10.1002/humu.24302

By:

McKnight, Dianalee;
Bean, Lora;
Karbassi, Izabela;
Beattie, Katelynn;
Bienvenu, Thierry;
Bonin, Hope;
Fang, Ping;
Chrisodoulou, John;
Friez, Michael;
Helgeson, Maria;
Krishnaraj, Rahul;
Meng, Linyan;
Mighion, Lindsey;
Neul, Jeffrey;
Percy, Alan;
Ramsden, Simon;
Zoghbi, Huda;
Das, Soma

Publication type:

Article

Annotating and prioritizing genomic variants using the Ensembl Variant Effect Predictor—A tutorial.

Published in:

Human Mutation, 2022, v. 43, n. 8, p. 986, doi. 10.1002/humu.24298

By:

Hunt, Sarah E.;
Moore, Benjamin;
Amode, Ridwan M.;
Armean, Irina M.;
Lemos, Diana;
Mushtaq, Aleena;
Parton, Andrew;
Schuilenburg, Helen;
Szpak, Michał;
Thormann, Anja;
Perry, Emily;
Trevanion, Stephen J.;
Flicek, Paul;
Yates, Andrew D.;
Cunningham, Fiona

Publication type:

Article

Utilizing ClinGen gene‐disease validity and dosage sensitivity curations to inform variant classification.

Published in:

Human Mutation, 2022, v. 43, n. 8, p. 1031, doi. 10.1002/humu.24291

By:

Thaxton, Courtney;
Good, Molly E.;
DiStefano, Marina T.;
Luo, Xi;
Andersen, Erica F.;
Thorland, Erik;
Berg, Jonathan;
Martin, Christa Lese;
Rehm, Heidi L.;
Riggs, Erin R.

Publication type:

Article

Adapting the ACMG/AMP variant classification framework: A perspective from the ClinGen Hemoglobinopathy Variant Curation Expert Panel.

Published in:

Human Mutation, 2022, v. 43, n. 8, p. 1089, doi. 10.1002/humu.24280

By:

Kountouris, Petros;
Stephanou, Coralea;
Lederer, Carsten W.;
Traeger‐Synodinos, Joanne;
Bento, Celeste;
Harteveld, Cornelis L.;
Fylaktou, Eirini;
Koopmann, Tamara T.;
Halim‐Fikri, Hashim;
Michailidou, Kyriaki;
Nfonsam, Landry E.;
Waye, John S.;
Zilfalil, Bin A.;
Kleanthous, Marina

Publication type:

Article

Issue Information.

Published in:: Human Mutation, 2022, v. 43, n. 8, p. 971, doi. 10.1002/humu.24230
Publication type:: Article