Works matching IS 10597794 AND DT 2021 AND VI 42 AND IP 8

Results: 12

Biallelic variants in RNU12 cause CDAGS syndrome.

Published in:

Human Mutation, 2021, v. 42, n. 8, p. 1042, doi. 10.1002/humu.24239

By:

Xing, Chao;
Kanchwala, Mohammed;
Rios, Jonathan J.;
Hyatt, Tommy;
Wang, Richard C.;
Tran, An;
Dougherty, Irene;
Tovar‐Garza, Andrea;
Purnadi, Christy;
Kumar, Monique G.;
Berk, David;
Shinawi, Marwan;
Irvine, Alan D.;
Toledo‐Bahena, Mirna;
Agim, Nnenna G.;
Glass, Donald A.

Publication type:

Article

Genetic pleiotropy of ERCC6 loss‐of‐function and deleterious missense variants links retinal dystrophy, arrhythmia, and immunodeficiency in diverse ancestries.

Published in:

Human Mutation, 2021, v. 42, n. 8, p. 969, doi. 10.1002/humu.24220

By:

Forrest, Iain S.;
Chaudhary, Kumardeep;
Vy, Ha My T.;
Bafna, Shantanu;
Kim, Soyeon;
Won, Hong‐Hee;
Loos, Ruth J.F.;
Cho, Judy;
Pasquale, Louis R.;
Nadkarni, Girish N.;
Rocheleau, Ghislain;
Do, Ron

Publication type:

Article

Upstream ORF frameshift variants in the PAX6 5ʹUTR cause congenital aniridia.

Published in:

Human Mutation, 2021, v. 42, n. 8, p. 1053, doi. 10.1002/humu.24248

By:

Filatova, Alexandra Y.;
Vasilyeva, Tatyana A.;
Marakhonov, Andrey V.;
Sukhanova, Natella V.;
Voskresenskaya, Anna A.;
Zinchenko, Rena A.;
Skoblov, Mikhail Y.

Publication type:

Article

Extending the allelic spectrum at noncoding risk loci of orofacial clefting.

Published in:

Human Mutation, 2021, v. 42, n. 8, p. 1066, doi. 10.1002/humu.24219

By:

Thieme, Frederic;
Henschel, Leonie;
Hammond, Nigel L.;
Ishorst, Nina;
Hausen, Jonas;
Adamson, Antony D.;
Biedermann, Angelika;
Bowes, John;
Zieger, Hanna K.;
Maj, Carlo;
Kruse, Teresa;
Buness, Andreas;
Hoischen, Alexander;
Gilissen, Christian;
Kreusch, Thomas;
Jäger, Andreas;
Gölz, Lina;
Braumann, Bert;
Aldhorae, Khalid;
Rojas‐Martinez, Augusto

Publication type:

Article

Integrated in silico and experimental assessment of disease relevance of PCDH19 missense variants.

Published in:

Human Mutation, 2021, v. 42, n. 8, p. 1030, doi. 10.1002/humu.24237

By:

Pham, Duyen H.;
Pitman, Melissa R.;
Kumar, Raman;
Jolly, Lachlan A.;
Schulz, Renee;
Gardner, Alison E.;
Nys, Rebekah;
Heron, Sarah E.;
Corbett, Mark A.;
Kothur, Kavitha;
Gill, Deepak;
Rajagopalan, Sulekha;
Kolc, Kristy L.;
Halliday, Benjamin J.;
Robertson, Stephen P.;
Regan, Brigid M.;
Kirsch, Heidi E.;
Berkovic, Samuel F.;
Scheffer, Ingrid E.;
Pitson, Stuart M.

Publication type:

Article

Common and rare myocilin variants: Predicting glaucoma pathogenicity based on genetics, clinical, and laboratory misfolding data.

Published in:

Human Mutation, 2021, v. 42, n. 8, p. 903, doi. 10.1002/humu.24238

By:

Scelsi, Hailee F.;
Barlow, Brett M.;
Saccuzzo, Emily G.;
Lieberman, Raquel L.

Publication type:

Article

Novel ALDH3A2 mutations in structural and functional domains of FALDH causing diverse clinical phenotypes in Sjögren–Larsson syndrome patients.

Published in:

Human Mutation, 2021, v. 42, n. 8, p. 1015, doi. 10.1002/humu.24236

By:

Rajeshwari, Mohan;
Karthi, Sellamuthu;
Singh, Reetu;
Efthymiou, Stephanie;
Gowda, Vykuntaraju K.;
Varalakshmi, Perumal;
Srinivasan, Varunvenkat M.;
Houlden, Henry;
Keller, Markus A.;
Rizzo, William B.;
Ashokkumar, Balasubramaniem

Publication type:

Article

Biallelic deep intronic variant c.5457+81T>A in TRIP11 causes loss of function and results in achondrogenesis 1A.

Published in:

Human Mutation, 2021, v. 42, n. 8, p. 1005, doi. 10.1002/humu.24235

By:

Upadhyai, Priyanka;
Radhakrishnan, Periyasamy;
Guleria, Vishal S.;
Kausthubham, Neethukrishna;
Nayak, Shalini S.;
Superti‐Furga, Andrea;
Girisha, Katta M.

Publication type:

Article

Common polymorphic OTC variants can act as genetic modifiers of enzymatic activity.

Published in:

Human Mutation, 2021, v. 42, n. 8, p. 978, doi. 10.1002/humu.24221

By:

Lopes‐Marques, Mónica;
Pacheco, Ana Rita;
Peixoto, Maria João;
Cardoso, Ana Rita;
Serrano, Catarina;
Amorim, António;
Prata, Maria João;
Cooper, David N.;
Azevedo, Luísa

Publication type:

Article

Incorporation of exome‐based CNV analysis makes trio‐WES a more powerful tool for clinical diagnosis in neurodevelopmental disorders: A retrospective study.

Published in:

Human Mutation, 2021, v. 42, n. 8, p. 990, doi. 10.1002/humu.24222

By:

Zhai, Yiwen;
Zhang, Zhanhui;
Shi, Panlai;
Martin, Donna M.;
Kong, Xiangdong

Publication type:

Article

New insights into the role of endoplasmic reticulum‐associated degradation in Bartter Syndrome Type 1.

Published in:

Human Mutation, 2021, v. 42, n. 8, p. 947, doi. 10.1002/humu.24217

By:

Shaukat, Irfan;
Bakhos‐Douaihy, Dalal;
Zhu, Yingying;
Seaayfan, Elie;
Demaretz, Sylvie;
Frachon, Nadia;
Weber, Stefanie;
Kömhoff, Martin;
Vargas‐Poussou, Rosa;
Laghmani, Kamel

Publication type:

Article

Issue Information.

Published in:: Human Mutation, 2021, v. 42, n. 8, p. 901, doi. 10.1002/humu.24045
Publication type:: Article