Works matching IS 10597794 AND DT 2021 AND VI 42 AND IP 12

Results: 12

A bi‐allelic loss‐of‐function SARS1 variant in children with neurodevelopmental delay, deafness, cardiomyopathy, and decompensation during fever.

Published in:

Human Mutation, 2021, v. 42, n. 12, p. 1576, doi. 10.1002/humu.24285

By:

Ravel, Jean‐Marie;
Dreumont, Natacha;
Mosca, Pauline;
Smith, Desiree E. C.;
Mendes, Marisa I.;
Wiedemann, Arnaud;
Coelho, David;
Schmitt, Emmanuelle;
Rivière, Jean‐Baptiste;
Tran Mau‐Them, Frédéric;
Thevenon, Julien;
Kuentz, Paul;
Polivka, Marc;
Fuchs, Sabine A.;
Kok, Gautam;
Thauvin‐Robinet, Christel;
Guéant, Jean‐Louis;
Salomons, Gajja S.;
Faivre, Laurence;
Feillet, François

Publication type:

Article

Cover, Volume 42, Issue 12.

Published in:

Human Mutation, 2021, v. 42, n. 12, p. i, doi. 10.1002/humu.24295

By:

Peng, Jiguang;
Xiang, Jiale;
Jin, Xiangqian;
Meng, Junhua;
Song, Nana;
Chen, Lisha;
Abou Tayoun, Ahmad;
Peng, Zhiyu

Publication type:

Article

Noncoding sequence variants define a novel regulatory element in the first intron of the N‐acetylglutamate synthase gene.

Published in:

Human Mutation, 2021, v. 42, n. 12, p. 1624, doi. 10.1002/humu.24281

By:

Häberle, Johannes;
Moore, Marvin B.;
Haskins, Nantaporn;
Rüfenacht, Véronique;
Rokicki, Dariusz;
Rubio‐Gozalbo, Estela;
Tuchman, Mendel;
Longo, Nicola;
Yandell, Mark;
Andrews, Ashley;
AhMew, Nicholas;
Caldovic, Ljubica

Publication type:

Article

Molecular landscape of DYSF mutations in dysferlinopathy: From a Chinese multicenter analysis to a worldwide perspective.

Published in:

Human Mutation, 2021, v. 42, n. 12, p. 1615, doi. 10.1002/humu.24284

By:

Zhong, Huahua;
Yu, Meng;
Lin, Pengfei;
Zhao, Zhe;
Zheng, Xueying;
Xi, Jianying;
Zhu, Wenhua;
Zheng, Yiming;
Zhang, Wei;
Lv, He;
Yan, Chuanzhu;
Hu, Jing;
Wang, Zhaoxia;
Lu, Jiahong;
Zhao, Chongbo;
Luo, Sushan;
Yuan, Yun

Publication type:

Article

Correlation between FBN1 mutations and ocular features with ectopia lentis in the setting of Marfan syndrome and related fibrillinopathies.

Published in:

Human Mutation, 2021, v. 42, n. 12, p. 1637, doi. 10.1002/humu.24283

By:

Chen, Ze‐Xu;
Chen, Tian‐Hui;
Zhang, Min;
Chen, Jia‐Hui;
Lan, Li‐Na;
Deng, Michael;
Zheng, Jia‐Lei;
Jiang, Yong‐Xiang

Publication type:

Article

Epidemiological aspects of hereditary fructose intolerance: A database study.

Published in:

Human Mutation, 2021, v. 42, n. 12, p. 1548, doi. 10.1002/humu.24282

By:

Pinheiro, Franciele C.;
Sperb‐Ludwig, Fernanda;
Schwartz, Ida V. D.

Publication type:

Article

A comprehensive molecular study identified 12 complementation groups with 56 novel FANC gene variants in Indian Fanconi anemia subjects.

Published in:

Human Mutation, 2021, v. 42, n. 12, p. 1648, doi. 10.1002/humu.24286

By:

George, Merin;
Solanki, Avani;
Chavan, Niranjan;
Rajendran, Aruna;
Raj, Revathi;
Mohan, Sheila;
Nemani, Sandeep;
Kanvinde, Shailesh;
Munirathnam, Deendayalan;
Rao, Sudha;
Radhakrishnan, Nita;
Lashkari, Harsha Prasada;
Ghildhiyal, Radha Gulati;
Manglani, Mamta;
Shanmukhaiah, Chandrakala;
Bhat, Sunil;
Ramesh, Sowmyashree;
Cherian, Anchu;
Junagade, Pritesh;
Vundinti, Babu Rao

Publication type:

Article

Validation of low‐coverage whole‐genome sequencing for mitochondrial DNA variants suggests mitochondrial DNA as a genetic cause of preterm birth.

Published in:

Human Mutation, 2021, v. 42, n. 12, p. 1602, doi. 10.1002/humu.24279

By:

Yang, Zeyu;
Slone, Jesse;
Wang, Xinjian;
Zhan, Jack;
Huang, Yongbo;
Namjou, Bahram;
Kaufman, Kenneth M.;
Pauciulo, Michael;
Harley, John B.;
Muglia, Louis J.;
Chepelev, Iouri;
Huang, Taosheng

Publication type:

Article

Actionable genomic variants in 6045 participants from the Qatar Genome Program.

Published in:

Human Mutation, 2021, v. 42, n. 12, p. 1584, doi. 10.1002/humu.24278

By:

Elfatih, Amal;
Mifsud, Borbala;
Syed, Najeeb;
Badii, Ramin;
Mbarek, Hamdi;
Abbaszadeh, Fatemeh;
Estivill, Xavier;
Ismail, Said;
Al‐Muftah, Wadha;
Badji, Radja;
Darwish, Dima;
Fadl, Tasnim;
Yasin, Heba;
Ennaifar, Maryem;
Abdel‐latif, Rania;
Alkuwari, Fatima;
Alvi, Muhammad;
Sarraj, Yasser Al;
Saad, Chadi;
Althani, Asmaa

Publication type:

Article

VIP‐HL: Semi‐automated ACMG/AMP variant interpretation platform for genetic hearing loss.

Published in:

Human Mutation, 2021, v. 42, n. 12, p. 1567, doi. 10.1002/humu.24277

By:

Peng, Jiguang;
Xiang, Jiale;
Jin, Xiangqian;
Meng, Junhua;
Song, Nana;
Chen, Lisha;
Abou Tayoun, Ahmad;
Peng, Zhiyu

Publication type:

Article

PRPH2 mutation update: In silico assessment of 245 reported and 7 novel variants in patients with retinal disease.

Published in:

Human Mutation, 2021, v. 42, n. 12, p. 1521, doi. 10.1002/humu.24275

By:

Peeters, Manon H. C. A;
Khan, Mubeen;
Rooijakkers, Anoek A. M. B;
Mulders, Timo;
Haer‐Wigman, Lonneke;
Boon, Camiel J. F.;
Klaver, Caroline C. W.;
van den Born, L. Ingeborgh;
Hoyng, Carel B.;
Cremers, Frans P. M.;
den Hollander, Anneke I.;
Dhaenens, Claire‐Marie;
Collin, Rob W. J.

Publication type:

Article

Issue Information.

Published in:: Human Mutation, 2021, v. 42, n. 12, p. 1519, doi. 10.1002/humu.24049
Publication type:: Article