Works matching IS 10597794 AND DT 2021 AND VI 42 AND IP 11

Results: 12

Cover, Volume 42, Issue 11.

Published in:

Human Mutation, 2021, v. 42, n. 11, p. i, doi. 10.1002/humu.24288

By:

Homan, Claire C.;
Venugopal, Parvathy;
Arts, Peer;
Shahrin, Nur H.;
Feurstein, Simone;
Rawlings, Lesley;
Lawrence, David M.;
Andrews, James;
King‐Smith, Sarah L.;
Harvey, Natasha L.;
Brown, Anna L.;
Scott, Hamish S.;
Hahn, Christopher N.

Publication type:

Article

Altered regulation of BRCA1 exon 11 splicing is associated with breast cancer risk in carriers of BRCA1 pathogenic variants.

Published in:

Human Mutation, 2021, v. 42, n. 11, p. 1488, doi. 10.1002/humu.24276

By:

Ruiz de Garibay, Gorka;
Fernandez‐Garcia, Ignacio;
Mazoyer, Sylvie;
Leme de Calais, Flavia;
Ameri, Pietro;
Vijayakumar, Sangeetha;
Martinez‐Ruiz, Haydeliz;
Damiola, Francesca;
Barjhoux, Laure;
Thomassen, Mads;
Andersen, Lars v. B.;
Herranz, Carmen;
Mateo, Francesca;
Palomero, Luis;
Espín, Roderic;
Gómez, Antonio;
García, Nadia;
Jimenez, Daniel;
Bonifaci, Núria;
Extremera, Ana I.

Publication type:

Article

Genome sequencing and RNA‐seq analyses of mitochondrial complex I deficiency revealed Alu insertion‐mediated deletion in NDUFV2.

Published in:

Human Mutation, 2021, v. 42, n. 11, p. 1422, doi. 10.1002/humu.24274

By:

Kishita, Yoshihito;
Shimura, Masaru;
Kohda, Masakazu;
Fushimi, Takuya;
Nitta, Kazuhiro R.;
Yatsuka, Yukiko;
Hirose, Shinichi;
Ideguchi, Hiroshi;
Ohtake, Akira;
Murayama, Kei;
Okazaki, Yasushi

Publication type:

Article

Identification of incompletely penetrant variants and interallelic interactions in autosomal recessive disorders by a population‐genetic approach.

Published in:

Human Mutation, 2021, v. 42, n. 11, p. 1473, doi. 10.1002/humu.24273

By:

Mikó, Ágnes;
Kaposi, Ambrus;
Schnabel, Karolina;
Seidl, Dániel;
Tory, Kálmán

Publication type:

Article

Broad variation in phenotypes for common GAA genotypes in Pompe disease.

Published in:

Human Mutation, 2021, v. 42, n. 11, p. 1461, doi. 10.1002/humu.24272

By:

Niño, Monica Y.;
in't Groen, Stijn L. M.;
de Faria, Douglas O. S.;
Hoogeveen‐Westerveld, Marianne;
van den Hout, Hannerieke J. M. P.;
van der Ploeg, Ans T.;
Bergsma, Atze J.;
Pijnappel, W. W. M. Pim

Publication type:

Article

GATA2 deficiency syndrome: A decade of discovery.

Published in:

Human Mutation, 2021, v. 42, n. 11, p. 1399, doi. 10.1002/humu.24271

By:

Homan, Claire C.;
Venugopal, Parvathy;
Arts, Peer;
Shahrin, Nur H.;
Feurstein, Simone;
Rawlings, Lesley;
Lawrence, David M.;
Andrews, James;
King‐Smith, Sarah L.;
Harvey, Natasha L.;
Brown, Anna L.;
Scott, Hamish S.;
Hahn, Christopher N.

Publication type:

Article

Molecular basis of mucopolysaccharidosis IVA (Morquio A syndrome): A review and classification of GALNS gene variants and reporting of 68 novel variants.

Published in:

Human Mutation, 2021, v. 42, n. 11, p. 1384, doi. 10.1002/humu.24270

By:

Zanetti, Alessandra;
D'Avanzo, Francesca;
AlSayed, Moeenaldeen;
Brusius‐Facchin, Ana Carolina;
Chien, Yin‐Hsiu;
Giugliani, Roberto;
Izzo, Emanuela;
Kasper, David C.;
Lin, Hsiang‐Yu;
Lin, Shuan‐Pei;
Pollard, Laura;
Singh, Akashdeep;
Tonin, Rodolfo;
Wood, Tim;
Morrone, Amelia;
Tomanin, Rosella

Publication type:

Article

A domain damage index to prioritizing the pathogenicity of missense variants.

Published in:

Human Mutation, 2021, v. 42, n. 11, p. 1503, doi. 10.1002/humu.24269

By:

Chen, Hua‐Chang;
Wang, Jing;
Liu, Qi;
Shyr, Yu

Publication type:

Article

SLC25A38 congenital sideroblastic anemia: Phenotypes and genotypes of 31 individuals from 24 families, including 11 novel mutations, and a review of the literature.

Published in:

Human Mutation, 2021, v. 42, n. 11, p. 1367, doi. 10.1002/humu.24267

By:

Heeney, Matthew M.;
Berhe, Simon;
Campagna, Dean R.;
Oved, Joseph H.;
Kurre, Peter;
Shaw, Peter J.;
Teo, Juliana;
Shanap, Mayada A.;
Hassab, Hoda M.;
Glader, Bertil E.;
Shah, Sanjay;
Yoshimi, Ayami;
Ameri, Afshin;
Antin, Joseph H.;
Boudreaux, Jeanne;
Briones, Michael;
Dickerson, Kathryn E.;
Fernandez, Conrad V.;
Farah, Roula;
Hasle, Henrik

Publication type:

Article

Expanding the genotypes and phenotypes for 19 rare diseases by exome sequencing performed in pediatric intensive care unit.

Published in:

Human Mutation, 2021, v. 42, n. 11, p. 1443, doi. 10.1002/humu.24266

By:

Liu, Juan;
Zheng, Yu;
Huang, Jiaotian;
Zhu, Desheng;
Zang, Ping;
Luo, Zhenqing;
Yang, Yongjia;
Peng, Yu;
Xiao, Zhenghui;
Zhu, Yimin;
Lu, Xiulan

Publication type:

Article

Lack of MECP2 gene transcription on the duplicated alleles of two related asymptomatic females with Xq28 duplications and opposite X‐chromosome inactivation skewing.

Published in:

Human Mutation, 2021, v. 42, n. 11, p. 1429, doi. 10.1002/humu.24262

By:

Sun, Yixi;
Yang, Yali;
Luo, Yuqin;
Chen, Min;
Wang, Liya;
Huang, Yingzhi;
Yang, Yanmei;
Dong, Minyue

Publication type:

Article

Issue Information.

Published in:: Human Mutation, 2021, v. 42, n. 11, p. 1365, doi. 10.1002/humu.24048
Publication type:: Article