Works matching IS 10597794 AND DT 2022 AND VI 43 AND IP 5

Results: 11

Re‐evaluation of missense variant classifications in NF2.

Published in:

Human Mutation, 2022, v. 43, n. 5, p. 643, doi. 10.1002/humu.24370

By:

Sadler, Katherine V.;
Rowlands, Charlie F.;
Smith, Philip T.;
Hartley, Claire L.;
Bowers, Naomi L.;
Roberts, Nicola Y.;
Harris, Jade L.;
Wallace, Andrew J.;
Evans, D. Gareth;
Messiaen, Ludwine M.;
Smith, Miriam J.

Publication type:

Article

A homozygous hypomorphic BNIP1 variant causes an increase in autophagosomes and reduced autophagic flux and results in a spondylo‐epiphyseal dysplasia.

Published in:

Human Mutation, 2022, v. 43, n. 5, p. 625, doi. 10.1002/humu.24368

By:

Holling, Tess;
Bhavani, Gandham S.;
von Elsner, Leonie;
Shah, Hitesh;
Kausthubham, Neethukrishna;
Bhattacharyya, Shaila S.;
Shukla, Anju;
Mortier, Geert R.;
Schinke, Thorsten;
Danyukova, Tatyana;
Pohl, Sandra;
Kutsche, Kerstin;
Girisha, Katta M.

Publication type:

Article

Tissue‐specific genotype–phenotype correlations among USH2A‐related disorders in the RUSH2A study.

Published in:

Human Mutation, 2022, v. 43, n. 5, p. 613, doi. 10.1002/humu.24365

By:

Hufnagel, Robert B.;
Liang, Wendi;
Duncan, Jacque L.;
Brewer, Carmen C.;
Audo, Isabelle;
Ayala, Allison R.;
Branham, Kari;
Cheetham, Janet K.;
Daiger, Stephen P.;
Durham, Todd A.;
Guan, Bin;
Heon, Elise;
Hoyng, Carel B.;
Iannaccone, Alessandro;
Kay, Christine N.;
Michaelides, Michel;
Pennesi, Mark E.;
Singh, Mandeep S.;
Ullah, Ehsan

Publication type:

Article

An algorithm for optimal testing in co‐segregation analysis.

Published in:

Human Mutation, 2022, v. 43, n. 5, p. 547, doi. 10.1002/humu.24363

By:

Buie, Ronald W.;
Rañola, John Michael O.;
Chen, Annie T.;
Shirts, Brian H.

Publication type:

Article

An expanded phenotype centric benchmark of variant prioritisation tools.

Published in:

Human Mutation, 2022, v. 43, n. 5, p. 539, doi. 10.1002/humu.24362

By:

Anderson, Denise;
Lassmann, Timo

Publication type:

Article

The heterozygous mutations of SLC26A8 are not the main actors for male infertility.

Published in:

Human Mutation, 2022, v. 43, n. 5, p. 604, doi. 10.1002/humu.24355

By:

Liu, Mohan;
Li, Jinhui;
Li, Yaqian;
Jiang, Chuan;
Xu, Wenming;
Yang, Yihong;
Shen, Ying

Publication type:

Article

Mutation profiling of the c.1521_1523delCTT (p.Phe508del, F508del) cystic fibrosis transmembrane conductance regulator allele using haplotype‐resolved long‐read next generation sequencing.

Published in:

Human Mutation, 2022, v. 43, n. 5, p. 595, doi. 10.1002/humu.24352

By:

Dilernia, Dario;
Amin, Pooneh;
Flores, Julie;
Stecenko, Arlene;
Sorscher, Eric

Publication type:

Article

Further delineation of auriculocondylar syndrome based on 14 novel cases and reassessment of 25 published cases.

Published in:

Human Mutation, 2022, v. 43, n. 5, p. 582, doi. 10.1002/humu.24349

By:

Vegas, Nancy;
Demir, Zeynep;
Gordon, Christopher T.;
Breton, Sylvain;
Romanelli Tavares, Vanessa L.;
Moisset, Hugo;
Zechi‐Ceide, Roseli;
Kokitsu‐Nakata, Nancy M.;
Kido, Yasuhiro;
Marlin, Sandrine;
Gherbi Halem, Souad;
Meerschaut, Ilse;
Callewaert, Bert;
Chung, Brian;
Revencu, Nicole;
Lehalle, Daphné;
Petit, Florence;
Propst, Evan J.;
Papsin, Blake C.;
Phillips, John H.

Publication type:

Article

Genome sequencing demonstrates high diagnostic yield in children with undiagnosed global developmental delay/intellectual disability: A prospective study.

Published in:

Human Mutation, 2022, v. 43, n. 5, p. 568, doi. 10.1002/humu.24347

By:

Sun, Yu;
Peng, Jing;
Liang, Desheng;
Ye, Xiantao;
Xu, Na;
Chen, Linlin;
Yan, Dan;
Zhang, Huiwen;
Xiao, Bing;
Qiu, Wenjuan;
Shen, Yiping;
Pang, Nan;
Liu, Yingdi;
Liang, Chen;
Qin, Zailong;
Luo, Jingsi;
Chen, Fei;
Wang, Jingmin;
Zhang, Zhixin;
Wei, Haiyan

Publication type:

Article

Diagnosis and follow‐up of glycogen storage disease (GSD) type VI from the largest GSD center in China.

Published in:

Human Mutation, 2022, v. 43, n. 5, p. 557, doi. 10.1002/humu.24345

By:

Luo, Xiaomei;
Duan, Ying;
Fang, Di;
Sun, Yu;
Xiao, Bing;
Zhang, Huiwen;
Han, Lianshu;
Liang, Lili;
Gong, Zhuwen;
Gu, Xuefan;
Yu, Yongguo;
Qiu, Wenjuan

Publication type:

Article

Issue Information.

Published in:: Human Mutation, 2022, v. 43, n. 5, p. 537, doi. 10.1002/humu.24227
Publication type:: Article