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

Found: 17