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
Issue Information.
Published in:
Human Mutation, 2022, v. 43, n. 5, p. 537, doi. 10.1002/humu.24227
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