Works matching IS 10597794 AND DT 2021 AND VI 42 AND IP 2

Results: 15

Cover, Volume 42, Issue 2.

Published in:

Human Mutation, 2021, v. 42, n. 2, p. i, doi. 10.1002/humu.24168

By:

Biswas, Pooja;
Borooah, Shyamanga;
Matsui, Hiroko;
Voronchikhina, Marina;
Zhou, Jason;
Zawaydeh, Qais;
Raghavendra, Pongali B.;
Ferreyra, Henry;
Riazuddin, S. Amer;
Wahlin, Karl;
Frazer, Kelly A.;
Ayyagari, Radha

Publication type:

Article

Erratum.

Published in:: 2021
Publication type:: Correction Notice

Rare coding variants in MAPK7 predispose to adolescent idiopathic scoliosis.

Published in:: Human Mutation, 2021, v. 42, n. 2, p. 218, doi. 10.1002/humu.24155
Publication type:: Article

A new case of TAR syndrome confirms the importance of noncoding variants in the etiopathogenesis of the disease.

Published in:

Human Mutation, 2021, v. 42, n. 2, p. 213, doi. 10.1002/humu.24145

By:

Morgan, Anna;
Dipresa, Savina;
Turolla, Licia;
La Bianca, Martina;
Faletra, Flavio;
Girotto, Giorgia

Publication type:

Article

The corrected breakpoint sequence of the homozygous SPINK1 deletion causing severe infantile isolated exocrine pancreatic insufficiency.

Published in:

Human Mutation, 2021, v. 42, n. 2, p. 216, doi. 10.1002/humu.24153

By:

Masson, Emmanuelle;
Férec, Claude;
Chen, Jian‐Min

Publication type:

Article

Cover, Volume 42, Issue 2.

Published in:

Human Mutation, 2021, v. 42, n. 2, p. ii, doi. 10.1002/humu.24169

By:

Poulter, James A.;
Gravett, Molly S. C.;
Taylor, Rachel L.;
Fujinami, Kaoru;
De Zaeytijd, Julie;
Bellingham, James;
Rehman, Atta Ur;
Hayashi, Takaaki;
Kondo, Mineo;
Rehman, Abdur;
Ansar, Muhammad;
Donnelly, Dan;
Toomes, Carmel;
Ali, Manir;
De Baere, Elfride;
Leroy, Bart P.;
Davies, Nigel P.;
Henderson, Robert H.;
Webster, Andrew R.;
Rivolta, Carlo

Publication type:

Article

Expanding the phenotype of X‐linked SSR4–CDG: Connective tissue implications.

Published in:

Human Mutation, 2021, v. 42, n. 2, p. 142, doi. 10.1002/humu.24151

By:

Castiglioni, Claudia;
Feillet, François;
Barnerias, Christine;
Wiedemann, Arnaud;
Muchart, Jordi;
Cortes, Fanny;
Hernando‐Davalillo, Cristina;
Montero, Raquel;
Dupré, Thierry;
Bruneel, Arnaud;
Seta, Nathalie;
Vuillaumier‐Barrot, Sandrine;
Serrano, Mercedes

Publication type:

Article

Update of the Pompe variant database for the prediction of clinical phenotypes: Novel disease‐associated variants, common sequence variants, and results from newborn screening.

Published in:

Human Mutation, 2021, v. 42, n. 2, p. 119, doi. 10.1002/humu.24148

By:

Faria, Douglas O. S.;
Groen, Stijn L. M.;
Hoogeveen‐Westerveld, Marianne;
Niño, Monica Y.;
Ploeg, Ans T.;
Bergsma, Atze J.;
Pijnappel, W. W. M. Pim

Publication type:

Article

Detection and validation of novel mutations in MERTK in a simplex case of retinal degeneration using WGS and hiPSC–RPEs model.

Published in:

Human Mutation, 2021, v. 42, n. 2, p. 189, doi. 10.1002/humu.24146

By:

Biswas, Pooja;
Borooah, Shyamanga;
Matsui, Hiroko;
Voronchikhina, Marina;
Zhou, Jason;
Zawaydeh, Qais;
Raghavendra, Pongali B.;
Ferreyra, Henry;
Riazuddin, S. Amer;
Wahlin, Karl;
Frazer, Kelly A.;
Ayyagari, Radha

Publication type:

Article

Epidemiological and ES cell‐based functional evaluation of BRCA2 variants identified in families with breast cancer.

Published in:

Human Mutation, 2021, v. 42, n. 2, p. 200, doi. 10.1002/humu.24154

By:

Sullivan, Teresa;
Thirthagiri, Eswary;
Chong, Chan‐Eng;
Stauffer, Stacey;
Reid, Susan;
Southon, Eileen;
Hassan, Tiara;
Ravichandran, Aravind;
Wijaya, Eldarina;
Lim, Joanna;
Taib, Nur Aishah Mohd;
Fadzli, Farhana;
Yip, Cheng Har;
Hartman, Mikael;
Li, Jingmei;
Dam, Rob M.;
North, Susan L.;
Das, Ranabir;
Easton, Douglas F.;
Biswas, Kajal

Publication type:

Article

Mitochondrial genome variant m.3250T>C as a possible risk factor for mitochondrial cardiomyopathy.

Published in:

Human Mutation, 2021, v. 42, n. 2, p. 177, doi. 10.1002/humu.24143

By:

Campbell, Teresa;
Lou, Xiaoting;
Slone, Jesse;
Brown, Jenice;
Bromwell, Meghan;
Liu, Jie;
Bai, Renkui;
Haude, Katrina;
Balog, Amanda;
Cui, Hong;
Zou, Weiwei;
Yang, Li;
Al‐Beshri, Ali;
Huang, Taosheng

Publication type:

Article

A novel variant in COX16 causes cytochrome c oxidase deficiency, severe fatal neonatal lactic acidosis, encephalopathy, cardiomyopathy, and liver dysfunction.

Published in:

Human Mutation, 2021, v. 42, n. 2, p. 135, doi. 10.1002/humu.24137

By:

Wintjes, Liesbeth T. M.;
Kava, Maina;
Brandt, Frans A.;
Brand, Mariël A. M.;
Lapina, Oksana;
Bliksrud, Yngve T.;
Kulseth, Mari A.;
Amundsen, Silja S.;
Selberg, Terje R.;
Ybema‐Antoine, Marion;
Tutakhel, Omar A. Z.;
Greed, Lawrence;
Thorburn, David R.;
Tangeraas, Trine;
Balasubramaniam, Shanti;
Rodenburg, Richard J. T.

Publication type:

Article

The p.Ser64Leu and p.Pro104Leu missense variants of PALB2 identified in familial pancreatic cancer patients compromise the DNA damage response.

Published in:

Human Mutation, 2021, v. 42, n. 2, p. 150, doi. 10.1002/humu.24133

By:

Zhang, Yue;
Park, Jung‐Young;
Zhang, Fan;
Olson, Sara H.;
Orlow, Irene;
Li, Yirong;
Kurtz, Robert C.;
Ladanyi, Marc;
Chen, Jie;
Toland, Amanda E.;
Zhang, Liying;
Andreassen, Paul R.

Publication type:

Article

Issue Information.

Published in:: Human Mutation, 2021, v. 42, n. 2, p. 117, doi. 10.1002/humu.24039
Publication type:: Article

New variants and in silico analyses in GRK1 associated Oguchi disease.

Published in:

Human Mutation, 2021, v. 42, n. 2, p. 164, doi. 10.1002/humu.24140

By:

Poulter, James A.;
Gravett, Molly S. C.;
Taylor, Rachel L.;
Fujinami, Kaoru;
De Zaeytijd, Julie;
Bellingham, James;
Rehman, Atta Ur;
Hayashi, Takaaki;
Kondo, Mineo;
Rehman, Abdur;
Ansar, Muhammad;
Donnelly, Dan;
Toomes, Carmel;
Ali, Manir;
De Baere, Elfride;
Leroy, Bart P.;
Davies, Nigel P.;
Henderson, Robert H.;
Webster, Andrew R.;
Rivolta, Carlo

Publication type:

Article