Works matching IS 10597794 AND DT 2022 AND VI 43 AND IP 7

Results: 16

Back Cover, Volume 43, Issue 7.

Published in:

Human Mutation, 2022, v. 43, n. 7, p. ii, doi. 10.1002/humu.24420

By:

Lima, Ariadne R.;
Ferreira, Barbara M.;
Zhang, Chaofan;
Jolly, Angad;
Du, Haowei;
White, Janson J.;
Dawood, Moez;
Lins, Tulio C.;
Chiabai, Marcela A.;
van Beusekom, Ellen;
Cordoba, Mara S.;
Caldas Rosa, Erica C.C.;
Kayserili, Hulya;
Kimonis, Virginia;
Wu, Erica;
Mellado, Cecilia;
Aggarwal, Vineet;
Richieri‐Costa, Antonio;
Brunoni, Décio;
Canó, Talyta M.

Publication type:

Article

Front Cover, Volume 43, Issue 7.

Published in:

Human Mutation, 2022, v. 43, n. 7, p. i, doi. 10.1002/humu.24419

By:

Sharma, Saloni;
Hourigan, Brenna;
Patel, Zain;
Rosenfeld, Jill A.;
Chan, Katie M.;
Wangler, Michael F.;
Yi, Joanna S.;
Lehman, Anna;
Horvath, Gabriella;
Cloos, Paul A.;
Tan, Qiumin

Publication type:

Article

DNAH14 variants are associated with neurodevelopmental disorders.

Published in:

Human Mutation, 2022, v. 43, n. 7, p. 940, doi. 10.1002/humu.24386

By:

Li, Juan;
Yuan, Yu;
Liu, Chaorong;
Xu, Yuchen;
Xiao, Neng;
Long, Hongyu;
Luo, Zhaohui;
Meng, Shujuan;
Wang, Hua;
Xiao, Bo;
Mao, Xiao;
Long, Lili

Publication type:

Article

Cas9‐guided haplotyping of three truncation variants in autosomal recessive disease.

Published in:

Human Mutation, 2022, v. 43, n. 7, p. 877, doi. 10.1002/humu.24385

By:

Natsuga, Ken;
Furuta, Yoshikazu;
Takashima, Shota;
Nohara, Takuma;
Huang, Hsin‐Yu;
Shinkuma, Satoru;
Nakamura, Hideki;
Katsuda, Yousuke;
Higashi, Hideaki;
Hsu, Chao‐Kai;
Fukushima, Satoshi;
Ujiie, Hideyuki

Publication type:

Article

The fibrillinopathies: New insights with focus on the paradigm of opposing phenotypes for both FBN1 and FBN2.

Published in:

Human Mutation, 2022, v. 43, n. 7, p. 815, doi. 10.1002/humu.24383

By:

Peeters, Silke;
De Kinderen, Pauline;
Meester, Josephina A. N.;
Verstraeten, Aline;
Loeys, Bart L.

Publication type:

Article

STRipy: A graphical application for enhanced genotyping of pathogenic short tandem repeats in sequencing data.

Published in:

Human Mutation, 2022, v. 43, n. 7, p. 859, doi. 10.1002/humu.24382

By:

Halman, Andreas;
Dolzhenko, Egor;
Oshlack, Alicia

Publication type:

Article

Short amplicon reverse transcription‐polymerase chain reaction detects aberrant splicing in genes with low expression in blood missed by ribonucleic acid sequencing analysis for clinical diagnosis.

Published in:

Human Mutation, 2022, v. 43, n. 7, p. 963, doi. 10.1002/humu.24378

By:

Wai, Htoo A.;
Constable, Matthew;
Drewes, Cosima;
Davies, Ian C.;
Svobodova, Eliska;
Dempsey, Esther;
Saggar, Anand;
Homfray, Tessa;
Mansour, Sahar;
Douzgou, Sofia;
Barr, Kate;
Mercer, Catherine;
Hunt, David;
Douglas, Andrew G. L.;
Baralle, Diana

Publication type:

Article

Effects of 14 F9 synonymous codon variants on hemophilia B expression: Alteration of splicing along with protein expression.

Published in:

Human Mutation, 2022, v. 43, n. 7, p. 928, doi. 10.1002/humu.24377

By:

Zhang, Huayang;
Chen, Changming;
Wu, Xi;
Lou, Can;
Liang, Qian;
Wu, Wenman;
Wang, Xuefeng;
Ding, Qiulan

Publication type:

Article

Comparison of the frequency of loss‐of‐function LZTR1 variants between schwannomatosis patients and the general population.

Published in:

Human Mutation, 2022, v. 43, n. 7, p. 919, doi. 10.1002/humu.24376

By:

Deng, Fanxuan;
Evans, D. Gareth;
Smith, Miriam J.

Publication type:

Article

Phenotypic and mutational spectrum of ROR2‐related Robinow syndrome.

Published in:

Human Mutation, 2022, v. 43, n. 7, p. 900, doi. 10.1002/humu.24375

By:

Lima, Ariadne R.;
Ferreira, Barbara M.;
Zhang, Chaofan;
Jolly, Angad;
Du, Haowei;
White, Janson J.;
Dawood, Moez;
Lins, Tulio C.;
Chiabai, Marcela A.;
van Beusekom, Ellen;
Cordoba, Mara S.;
Caldas Rosa, Erica C.C.;
Kayserili, Hulya;
Kimonis, Virginia;
Wu, Erica;
Mellado, Cecilia;
Aggarwal, Vineet;
Richieri‐Costa, Antonio;
Brunoni, Décio;
Canó, Talyta M.

Publication type:

Article

Feasibility and limitations of cultured skin fibroblasts for germline genetic testing in hematologic disorders.

Published in:

Human Mutation, 2022, v. 43, n. 7, p. 950, doi. 10.1002/humu.24374

By:

DeRoin, Lia;
Cavalcante de Andrade Silva, Marcela;
Petras, Kristin;
Arndt, Kelly;
Phillips, Nathaniel;
Wanjari, Pankhuri;
Subramanian, Hari Prasanna;
Montes, David;
McElherne, James;
Theissen, Megan;
Briese, Renee;
Das, Soma;
Godley, Lucy A.;
Segal, Jeremy;
del Gaudio, Daniela;
Fitzpatrick, Carrie;
Churpek, Jane E.

Publication type:

Article

Pathogenic missense variants altering codon 336 of GARS1 lead to divergent dominant phenotypes.

Published in:

Human Mutation, 2022, v. 43, n. 7, p. 869, doi. 10.1002/humu.24372

By:

Meyer, Alayne P.;
Forrest, Megan E.;
Nicolau, Stefan;
Wiszniewski, Wojciech;
Bland, Mary Pat;
Tsao, Chang‐Yong;
Antonellis, Anthony;
Abreu, Nicolas J.

Publication type:

Article

Comprehensive variant spectrum of the CNGA3 gene in patients affected by achromatopsia.

Published in:

Human Mutation, 2022, v. 43, n. 7, p. 832, doi. 10.1002/humu.24371

By:

Solaki, Maria;
Baumann, Britta;
Reuter, Peggy;
Andreasson, Sten;
Audo, Isabelle;
Ayuso, Carmen;
Balousha, Ghassan;
Benedicenti, Francesco;
Birch, David;
Bitoun, Pierre;
Blain, Delphine;
Bocquet, Beatrice;
Branham, Kari;
Català‐Mora, Jaume;
De Baere, Elfride;
Dollfus, Helene;
Falana, Mohammed;
Giorda, Roberto;
Golovleva, Irina;
Gottlob, Irene

Publication type:

Article

Estimating the proportion of pathogenic variants from breast cancer case–control data: Application to calibration of ACMG/AMP variant classification criteria.

Published in:

Human Mutation, 2022, v. 43, n. 7, p. 882, doi. 10.1002/humu.24357

By:

James, Paul A.;
Fortuno, Cristina;
Li, Na;
Lim, Belle W. X.;
Campbell, Ian G.;
Spurdle, Amanda B.

Publication type:

Article

Novel CIC variants identified in individuals with neurodevelopmental phenotypes.

Published in:

Human Mutation, 2022, v. 43, n. 7, p. 889, doi. 10.1002/humu.24346

By:

Sharma, Saloni;
Hourigan, Brenna;
Patel, Zain;
Rosenfeld, Jill A.;
Chan, Katie M.;
Wangler, Michael F.;
Yi, Joanna S.;
Lehman, Anna;
Horvath, Gabriella;
Cloos, Paul A.;
Tan, Qiumin

Publication type:

Article

Issue Information.

Published in:: Human Mutation, 2022, v. 43, n. 7, p. 813, doi. 10.1002/humu.24229
Publication type:: Article