Works matching IS 10597794 AND DT 2020 AND VI 41 AND IP 3

Results: 17

Front Cover, Volume 41, Issue 3.

Published in:

Human Mutation, 2020, v. 41, n. 3, p. i, doi. 10.1002/humu.23994

By:

Gao, Xianqi;
Nan, Xiyan;
Liu, Yilan;
Liu, Rui;
Zang, Wanchun;
Shan, Guangyu;
Gai, Fei;
Zhang, Jingfeng;
Li, Lei;
Cheng, Gang;
Song, Lele

Publication type:

Article

The recurrent postzygotic pathogenic variant p.Glu47Lys in RHOA causes a novel recognizable neuroectodermal phenotype.

Published in:

Human Mutation, 2020, v. 41, n. 3, p. 591, doi. 10.1002/humu.23964

By:

Yigit, Gökhan;
Saida, Ken;
DeMarzo, Danielle;
Miyake, Noriko;
Fujita, Atsushi;
Yang Tan, Tiong;
White, Susan M.;
Wadley, Alexandrea;
Toliat, Mohammad R.;
Motameny, Susanne;
Franitza, Marek;
Stutterd, Chloe A.;
Chong, Pin F.;
Kira, Ryutaro;
Sengoku, Toru;
Ogata, Kazuhiro;
Guillen Sacoto, Maria J.;
Fresen, Christine;
Beck, Bodo B.;
Nürnberg, Peter

Publication type:

Article

Pred‐MutHTP: Prediction of disease‐causing and neutral mutations in human transmembrane proteins.

Published in:

Human Mutation, 2020, v. 41, n. 3, p. 581, doi. 10.1002/humu.23961

By:

Kulandaisamy, A.;
Zaucha, Jan;
Sakthivel, Ramasamy;
Frishman, Dmitrij;
Michael Gromiha, M.

Publication type:

Article

DNA repair functional analyses of NBN hypomorphic variants associated with NBN‐related infertility.

Published in:

Human Mutation, 2020, v. 41, n. 3, p. 608, doi. 10.1002/humu.23955

By:

Fiévet, Alice;
Bellanger, Dorine;
Zahed, Laila;
Burglen, Lydie;
Derrien, Anne‐Céline;
Dubois d'Enghien, Catherine;
Lespinasse, James;
Parfait, Béatrice;
Pedespan, Jean‐Michel;
Rieunier, Guillaume;
Stoppa‐Lyonnet, Dominique;
Stern, Marc‐Henri

Publication type:

Article

Comprehensive profiling of BRCA1 and BRCA2 variants in breast and ovarian cancer in Chinese patients.

Published in:

Human Mutation, 2020, v. 41, n. 3, p. 696, doi. 10.1002/humu.23965

By:

Gao, Xianqi;
Nan, Xiyan;
Liu, Yilan;
Liu, Rui;
Zang, Wanchun;
Shan, Guangyu;
Gai, Fei;
Zhang, Jingfeng;
Li, Lei;
Cheng, Gang;
Song, Lele

Publication type:

Article

Osteoporosis genome‐wide association study variant c.3781 C>A is regulated by a novel anti‐osteogenic factor miR‐345‐5p.

Published in:

Human Mutation, 2020, v. 41, n. 3, p. 709, doi. 10.1002/humu.23959

By:

Wang, Ya;
Ye, Weiyuan;
Liu, Yuyong;
Mei, Bing;
Liu, Xinhong;
Huang, Qingyang

Publication type:

Article

An intellectual disability‐associated missense variant in TRMT1 impairs tRNA modification and reconstitution of enzymatic activity.

Published in:

Human Mutation, 2020, v. 41, n. 3, p. 600, doi. 10.1002/humu.23976

By:

Zhang, Kejia;
Lentini, Jenna M.;
Prevost, Christopher T.;
Hashem, Mais O.;
Alkuraya, Fowzan S.;
Fu, Dragony

Publication type:

Article

Differences in patient ascertainment affect the use of gene‐specified ACMG/AMP phenotype‐related variant classification criteria: Evidence for TP53.

Published in:

Human Mutation, 2020, v. 41, n. 3, p. 537, doi. 10.1002/humu.23972

By:

Fortuno, Cristina;
Pesaran, Tina;
Dolinsky, Jill;
Yussuf, Amal;
McGoldrick, Kelly;
Goldgar, David;
James, Paul A.;
Spurdle, Amanda B.

Publication type:

Article

Hermansky–Pudlak syndrome: Mutation update.

Published in:

Human Mutation, 2020, v. 41, n. 3, p. 543, doi. 10.1002/humu.23968

By:

Huizing, Marjan;
Malicdan, May C. V.;
Wang, Jennifer A.;
Pri‐Chen, Hadass;
Hess, Richard A.;
Fischer, Roxanne;
O'Brien, Kevin J.;
Merideth, Melissa A.;
Gahl, William A.;
Gochuico, Bernadette R.

Publication type:

Article

High‐throughput custom capture sequencing identifies novel mutations in coloboma‐associated genes: Mutation in DNA‐binding domain of retinoic acid receptor beta affects nuclear localization causing ocular coloboma.

Published in:

Human Mutation, 2020, v. 41, n. 3, p. 678, doi. 10.1002/humu.23954

By:

Kalaskar, Vijay K.;
Alur, Ramakrishna P.;
Li, LeeAnn K.;
Thomas, James W.;
Sergeev, Yuri V.;
Blain, Delphine;
Hufnagel, Robert B.;
Cogliati, Tiziana;
Brooks, Brian P.

Publication type:

Article

Issue Information.

Published in:: Human Mutation, 2020, v. 41, n. 3, p. 533, doi. 10.1002/humu.23807
Publication type:: Article

Recurrent arginine substitutions in the ACTG2 gene are the primary driver of disease burden and severity in visceral myopathy.

Published in:

Human Mutation, 2020, v. 41, n. 3, p. 641, doi. 10.1002/humu.23960

By:

Assia Batzir, Nurit;
Kishor Bhagwat, Pranjali;
Larson, Austin;
Coban Akdemir, Zeynep;
Bagłaj, Maciej;
Bofferding, Leon;
Bosanko, Katherine B.;
Bouassida, Skander;
Callewaert, Bert;
Cannon, Ashley;
Enchautegui Colon, Yazmin;
Garnica, Adolfo D.;
Harr, Margaret H.;
Heck, Sandra;
Hurst, Anna C. E.;
Jhangiani, Shalini N.;
Isidor, Bertrand;
Littlejohn, Rebecca O.;
Liu, Pengfei;
Magoulas, Pilar

Publication type:

Article

Exonic rearrangements in DMD in Chinese Han individuals affected with Duchenne and Becker muscular dystrophies.

Published in:

Human Mutation, 2020, v. 41, n. 3, p. 668, doi. 10.1002/humu.23953

By:

Ling, Chao;
Dai, Yi;
Fang, Li;
Yao, Fengxia;
Liu, Zhe;
Qiu, Zhengqing;
Cui, Liying;
Xia, Fan;
Zhao, Chen;
Zhang, Shuyang;
Wang, Kai;
Zhang, Xue

Publication type:

Article

CSGALNACT1‐congenital disorder of glycosylation: A mild skeletal dysplasia with advanced bone age.

Published in:

Human Mutation, 2020, v. 41, n. 3, p. 655, doi. 10.1002/humu.23952

By:

Mizumoto, Shuji;
Janecke, Andreas R.;
Sadeghpour, Azita;
Povysil, Gundula;
McDonald, Marie T.;
Unger, Sheila;
Greber‐Platzer, Susanne;
Deak, Kristen L.;
Katsanis, Nicholas;
Superti‐Furga, Andrea;
Sugahara, Kazuyuki;
Davis, Erica E.;
Yamada, Shuhei;
Vodopiutz, Julia

Publication type:

Article

Truncating variants in UBAP1 associated with childhood‐onset nonsyndromic hereditary spastic paraplegia.

Published in:

Human Mutation, 2020, v. 41, n. 3, p. 632, doi. 10.1002/humu.23950

By:

Gu, Shen;
Chen, Chun‐An;
Rosenfeld, Jill A.;
Cope, Heidi;
Launay, Nathalie;
Flanigan, Kevin M.;
Waldrop, Megan A.;
Schrader, Rachel;
Juusola, Jane;
Goker‐Alpan, Ozlem;
Milunsky, Aubrey;
Schlüter, Agatha;
Troncoso, Mónica;
Pujol, Aurora;
Tan, Queenie K.‐G.;
Schaaf, Christian P.;
Meng, Linyan

Publication type:

Article

DualWMDR: Detecting epistatic interaction with dual screening and multifactor dimensionality reduction.

Published in:

Human Mutation, 2020, v. 41, n. 3, p. 719, doi. 10.1002/humu.23951

By:

Cao, Xia;
Yu, Guoxian;
Ren, Wei;
Guo, Maozu;
Wang, Jun

Publication type:

Article

Congenital myasthenic syndrome due to mutations in MUSK suggests that the level of MuSK phosphorylation is crucial for governing synaptic structure.

Published in:

Human Mutation, 2020, v. 41, n. 3, p. 619, doi. 10.1002/humu.23949

By:

Rodríguez Cruz, Pedro M.;
Cossins, Judith;
Cheung, Jonathan;
Maxwell, Susan;
Jayawant, Sandeep;
Herbst, Ruth;
Waithe, Dominic;
Kornev, Alexandr P.;
Palace, Jacqueline;
Beeson, David

Publication type:

Article