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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
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
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
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
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
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
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

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