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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
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
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
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
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
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
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
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
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
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

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