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

Results: 14

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
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
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
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
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
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
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
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