Works matching IS 10597794 AND DT 2020 AND VI 41 AND IP 10

Results: 14

Cover, Volume 41, Issue 10.

Published in:

Human Mutation, 2020, v. 41, n. 10, p. i, doi. 10.1002/humu.24115

By:

Kaur, Simranpreet;
Van Bergen, Nicole J.;
Verhey, Kristen J.;
Nowell, Cameron J.;
Budaitis, Breane;
Yue, Yang;
Ellaway, Carolyn;
Brunetti‐Pierri, Nicola;
Cappuccio, Gerarda;
Bruno, Irene;
Boyle, Lia;
Nigro, Vincenzo;
Torella, Annalaura;
Roscioli, Tony;
Cowley, Mark J.;
Massey, Sean;
Sonawane, Rhea;
Burton, Matthew D.;
Schonewolf‐Greulich, Bitten;
Tümer, Zeynep

Publication type:

Article

Retracted: Identification of seven novel mutations in ABCD1 by a DHPLC‐based assay in Italian patients with X‐linked adrenoleukodystrophy.

Published in:: Human Mutation, 2020, v. 41, n. 10, p. 1830, doi. 10.1002/humu.24093
Publication type:: Article

Large‐scale comparative evaluation of user‐friendly tools for predicting variant‐induced alterations of splicing regulatory elements.

Published in:

Human Mutation, 2020, v. 41, n. 10, p. 1811, doi. 10.1002/humu.24091

By:

Tubeuf, Hélène;
Charbonnier, Camille;
Soukarieh, Omar;
Blavier, André;
Lefebvre, Arnaud;
Dauchel, Hélène;
Frebourg, Thierry;
Gaildrat, Pascaline;
Martins, Alexandra

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

Splicing impact of deep exonic missense variants in CAPN3 explored systematically by minigene functional assay.

Published in:

Human Mutation, 2020, v. 41, n. 10, p. 1797, doi. 10.1002/humu.24083

By:

Dionnet, Eugénie;
Defour, Aurélia;
Da Silva, Nathalie;
Salvi, Alexandra;
Lévy, Nicolas;
Krahn, Martin;
Bartoli, Marc;
Puppo, Francesca;
Gorokhova, Svetlana

Publication type:

Article

Clinical and laboratory interpretation of mitochondrial mRNA variants.

Published in:

Human Mutation, 2020, v. 41, n. 10, p. 1783, doi. 10.1002/humu.24082

By:

Wong, Lee‐Jun C.;
Chen, Ting;
Schmitt, Eric S.;
Wang, Jing;
Tang, Sha;
Landsverk, Megan;
Li, Fangyuan;
Zhang, Shulin;
Wang, Yue;
Zhang, Victor W.;
Craigen, William J.

Publication type:

Article

Homozygous mutations in C1QBP as cause of progressive external ophthalmoplegia (PEO) and mitochondrial myopathy with multiple mtDNA deletions.

Published in:

Human Mutation, 2020, v. 41, n. 10, p. 1745, doi. 10.1002/humu.24081

By:

Marchet, Silvia;
Legati, Andrea;
Nasca, Alessia;
Di Meo, Ivano;
Spagnolo, Manuela;
Zanetti, Nadia;
Lamantea, Eleonora;
Catania, Alessia;
Lamperti, Costanza;
Ghezzi, Daniele

Publication type:

Article

De novo mutation and skewed X‐inactivation in girl with BCAP31‐related syndrome.

Published in:

Human Mutation, 2020, v. 41, n. 10, p. 1775, doi. 10.1002/humu.24080

By:

Kao, Hsiao‐Jung;
Chiang, Hung‐Lun;
Chen, Hsiao‐Huei;
Fan, Pi‐Chuan;
Tu, Yi‐Fang;
Chou, Yen‐Yin;
Hwu, Wuh‐Liang;
Lin, Chien‐Ling;
Kwok, Pui‐Yan;
Lee, Ni‐Chung

Publication type:

Article

Expansion of the phenotypic spectrum of de novo missense variants in kinesin family member 1A (KIF1A).

Published in:

Human Mutation, 2020, v. 41, n. 10, p. 1761, doi. 10.1002/humu.24079

By:

Kaur, Simranpreet;
Van Bergen, Nicole J.;
Verhey, Kristen J.;
Nowell, Cameron J.;
Budaitis, Breane;
Yue, Yang;
Ellaway, Carolyn;
Brunetti‐Pierri, Nicola;
Cappuccio, Gerarda;
Bruno, Irene;
Boyle, Lia;
Nigro, Vincenzo;
Torella, Annalaura;
Roscioli, Tony;
Cowley, Mark J.;
Massey, Sean;
Sonawane, Rhea;
Burton, Matthew D.;
Schonewolf‐Greulich, Bitten;
Tümer, Zeynep

Publication type:

Article

Human genes differ by their UV sensitivity estimated through analysis of UV‐induced silent mutations in melanoma.

Published in:

Human Mutation, 2020, v. 41, n. 10, p. 1751, doi. 10.1002/humu.24078

By:

Gorlov, Ivan P.;
Amos, Christopher I.;
Tsavachidis, Spiridon;
Begg, Colin;
Hernando, Eva;
Cheng, Chao;
Shen, Ronglai;
Orlow, Irene;
Luo, Li;
Ernstoff, Marc S.;
Parker, Joel;
Thomas, Nancy E.;
Gorlova, Olga Y.;
Berwick, Marianne

Publication type:

Article

EpigenCentral: Portal for DNA methylation data analysis and classification in rare diseases.

Published in:

Human Mutation, 2020, v. 41, n. 10, p. 1722, doi. 10.1002/humu.24076

By:

Turinsky, Andrei L.;
Choufani, Sanaa;
Lu, Kevin;
Liu, Da;
Mashouri, Pouria;
Min, Daniel;
Weksberg, Rosanna;
Brudno, Michael

Publication type:

Article

The expanding clinical phenotype of germline ABL1‐associated congenital heart defects and skeletal malformations syndrome.

Published in:

Human Mutation, 2020, v. 41, n. 10, p. 1738, doi. 10.1002/humu.24075

By:

Chen, Chun‐An;
Crutcher, Emeline;
Gill, Harinder;
Nelson, Tanya N.;
Robak, Laurie A.;
Jongmans, Marjolijn C. J.;
Pfundt, Rolph;
Prasad, Chitra;
Berard, Roberta A.;
Fannemel, Madeleine;
Frengen, Eirik;
Misceo, Doriana;
Ramsey, Keri;
Yang, Yaping;
Schaaf, Christian P.;
Wang, Xia

Publication type:

Article

Variant effect on splicing regulatory elements, branchpoint usage, and pseudoexonization: Strategies to enhance bioinformatic prediction using hereditary cancer genes as exemplars.

Published in:

Human Mutation, 2020, v. 41, n. 10, p. 1705, doi. 10.1002/humu.24074

By:

Canson, Daffodil;
Glubb, Dylan;
Spurdle, Amanda B.

Publication type:

Article

Issue Information.

Published in:: Human Mutation, 2020, v. 41, n. 10, p. 1703, doi. 10.1002/humu.23814
Publication type:: Article