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Genome-wide association analysis identifies a susceptibility locus for sporadic vestibular schwannoma at 9p21.
Published in:
Brain: A Journal of Neurology, 2023, v. 146, n. 7, p. 2861, doi. 10.1093/brain/awac478
By:
- Sadler, Katherine V;
- Bowes, John;
- Rowlands, Charlie F;
- Perez-Becerril, Cristina;
- Meer, C Mwee van der;
- King, Andrew T;
- Rutherford, Scott A;
- Pathmanaban, Omar N;
- Hammerbeck-Ward, Charlotte;
- Lloyd, Simon K W;
- Freeman, Simon R;
- Williams, Ricky;
- Hannan, Cathal John;
- Lewis, Daniel;
- Eyre, Steve;
- Evans, D Gareth;
- Smith, Miriam J
Publication type:
Article
Characterization of a mutant samhd1 zebrafish model implicates dysregulation of cholesterol biosynthesis in Aicardi-Goutières syndrome.
Published in:
Frontiers in Immunology, 2023, v. 14, p. 1, doi. 10.3389/fimmu.2023.1100967
By:
- Withers, Sarah E.;
- Rowlands, Charlie F.;
- Tapia, Victor S.;
- Hedley, Frances;
- Mosneag, Ioana-Emilia;
- Crilly, Siobhan;
- Rice, Gillian I.;
- Badrock, Andrew P.;
- Hayes, Andrew;
- Allan, Stuart M.;
- Briggs, Tracy A.;
- Kasher, Paul R.
Publication type:
Article
Modelling the developmental spliceosomal craniofacial disorder Burn-McKeown syndrome using induced pluripotent stem cells.
Published in:
PLoS ONE, 2020, v. 15, n. 7, p. 1, doi. 10.1371/journal.pone.0233582
By:
- Wood, Katherine A.;
- Rowlands, Charlie F.;
- Thomas, Huw B.;
- Woods, Steven;
- O'Flaherty, Julieta;
- Douzgou, Sofia;
- Kimber, Susan J.;
- Newman, William G.;
- O'Keefe, Raymond T.
Publication type:
Article
Disease modeling of core pre-mRNA splicing factor haploinsufficiency.
Published in:
Human Molecular Genetics, 2019, v. 28, n. 22, p. 3704, doi. 10.1093/hmg/ddz169
By:
- Wood, Katherine A;
- Rowlands, Charlie F;
- Qureshi, Wasay Mohiuddin Shaikh;
- Thomas, Huw B;
- Buczek, Weronika A;
- Briggs, Tracy A;
- Hubbard, Simon J;
- Hentges, Kathryn E;
- Newman, William G;
- O'Keefe, Raymond T
Publication type:
Article
Machine Learning Approaches for the Prioritization of Genomic Variants Impacting Pre-mRNA Splicing.
Published in:
Cells (2073-4409), 2019, v. 8, n. 12, p. 1513, doi. 10.3390/cells8121513
By:
- Rowlands, Charlie F;
- Baralle, Diana;
- Ellingford, Jamie M
Publication type:
Article
Re‐evaluation of missense variant classifications in NF2.
Published in:
Human Mutation, 2022, v. 43, n. 5, p. 643, doi. 10.1002/humu.24370
By:
- Sadler, Katherine V.;
- Rowlands, Charlie F.;
- Smith, Philip T.;
- Hartley, Claire L.;
- Bowers, Naomi L.;
- Roberts, Nicola Y.;
- Harris, Jade L.;
- Wallace, Andrew J.;
- Evans, D. Gareth;
- Messiaen, Ludwine M.;
- Smith, Miriam J.
Publication type:
Article

Found: 6

Genome-wide association analysis identifies a susceptibility locus for sporadic vestibular schwannoma at 9p21.

Characterization of a mutant samhd1 zebrafish model implicates dysregulation of cholesterol biosynthesis in Aicardi-Goutières syndrome.

Modelling the developmental spliceosomal craniofacial disorder Burn-McKeown syndrome using induced pluripotent stem cells.

Disease modeling of core pre-mRNA splicing factor haploinsufficiency.

Machine Learning Approaches for the Prioritization of Genomic Variants Impacting Pre-mRNA Splicing.

Re‐evaluation of missense variant classifications in NF2.