Author Search Results

1

Opportunities and Challenges for Molecular Understanding of Ciliopathies–The 100,000 Genomes Project by Wheway, Gabrielle, Mitchison, Hannah M.

Published 2019

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Corrigendum: Opportunities and Challenges for Molecular Understanding of Ciliopathies–The 100,000 Genomes Project by Wheway, Gabrielle, Mitchison, Hannah M.

Published 2019

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Signaling through the Primary Cilium by Wheway, Gabrielle, Nazlamova, Liliya, Hancock, John T.

Published 2018

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The role of primary cilia in the development and disease of the retina by Wheway, Gabrielle, Parry, David A, Johnson, Colin A

Published 2014

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661W Photoreceptor Cell Line as a Cell Model for Studying Retinal Ciliopathies by Wheway, Gabrielle, Nazlamova, Liliya, Turner, Dann, Cross, Stephen

Published 2019

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Mutation spectrum of PRPF31, genotype-phenotype correlation in retinitis pigmentosa, and opportunities for therapy by Wheway, Gabrielle, Douglas, Andrew, Baralle, Diana, Guillot, Elsa

Published 2020

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An updated SYSCILIA gold standard (SCGSv2) of known ciliary genes, revealing the vast progress that has been made in the cilia research field by Vasquez, Suly Saray Villa, van Dam, John, Wheway, Gabrielle

Published 2021

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8

Meckel–Gruber Syndrome: An Update on Diagnosis, Clinical Management, and Research Advances by Hartill, Verity, Szymanska, Katarzyna, Sharif, Saghira Malik, Wheway, Gabrielle, Johnson, Colin A.

Published 2017

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A Combined in silico, in vitro and Clinical Approach to Characterize Novel Pathogenic Missense Variants in PRPF31 in Retinitis Pigmentosa by Wheway, Gabrielle, Nazlamova, Liliya, Meshad, Nervine, Hunt, Samantha, Jackson, Nicola, Churchill, Amanda

Published 2019

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The SYSCILIA gold standard (SCGSv1) of known ciliary components and its applications within a systems biology consortium by van Dam, Teunis JP, Wheway, Gabrielle, Slaats, Gisela G, Huynen, Martijn A, Giles, Rachel H

Published 2013

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11

Unlocking the potential of the UK 100,000 Genomes Project—lessons learned from analysis of the “Congenital Malformations caused by Ciliopathies” cohort by Best, Sunayna, Inglehearn, Chris F., Watson, Christopher M., Toomes, Carmel, Wheway, Gabrielle, Johnson, Colin A.

Published 2022

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12

Variable expressivity of ciliopathy neurological phenotypes that encompass Meckel–Gruber syndrome and Joubert syndrome is caused by complex de-regulated ciliogenesis, Shh and Wnt s... by Abdelhamed, Zakia A., Wheway, Gabrielle, Szymanska, Katarzyna, Natarajan, Subaashini, Toomes, Carmel, Inglehearn, Chris, Johnson, Colin A.

Published 2013

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13

The Meckel-Gruber syndrome protein TMEM67 controls basal body positioning and epithelial branching morphogenesis in mice via the non-canonical Wnt pathway by Abdelhamed, Zakia A., Natarajan, Subaashini, Wheway, Gabrielle, Inglehearn, Christopher F., Toomes, Carmel, Johnson, Colin A., Jagger, Daniel J.

Published 2015

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14

Nesprin-2 interacts with meckelin and mediates ciliogenesis via remodelling of the actin cytoskeleton by Dawe, Helen R., Adams, Matthew, Wheway, Gabrielle, Szymanska, Katarzyna, Logan, Clare V., Noegel, Angelika A., Gull, Keith, Johnson, Colin A.

Published 2009

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15

A CRISPR and high-content imaging assay compliant with ACMG/AMP guidelines for clinical variant interpretation in ciliopathies by Nazlamova, Liliya, Thomas, N. Simon, Cheung, Man-Kim, Legebeke, Jelmer, Lord, Jenny, Pengelly, Reuben J., Tapper, William J., Wheway, Gabrielle

Published 2020

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16

Regulation of canonical Wnt signalling by the ciliopathy protein MKS1 and the E2 ubiquitin-conjugating enzyme UBE2E1 by Szymanska, Katarzyna, Boldt, Karsten, Logan, Clare V, Adams, Matthew, Robinson, Philip A, Ueffing, Marius, Zeqiraj, Elton, Wheway, Gabrielle, Johnson, Colin A

Published 2022

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The ciliary Frizzled-like receptor Tmem67 regulates canonical Wnt/β-catenin signalling in the developing cerebellum via Hoxb5 by Abdelhamed, Zakia A., Abdelmottaleb, Dina I., El-Asrag, Mohammed E., Natarajan, Subaashini, Wheway, Gabrielle, Inglehearn, Chris F., Toomes, Carmel, Johnson, Colin A.

Published 2019

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18

Temporal Whole-Transcriptomic Analysis of Characterized In Vitro and Ex Vivo Primary Nasal Epithelia by Legebeke, Jelmer, Horton, Katie L., Jackson, Claire L., Coles, Janice, Harris, Amanda, Wai, Htoo A., Holloway, John W., Wheway, Gabrielle, Baralle, Diana, Lucas, Jane S.

Published 2022

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19

Whole genome sequencing in the diagnosis of primary ciliary dyskinesia by Wheway, Gabrielle, Thomas, N. Simon, Carroll, Mary, Coles, Janice, Doherty, Regan, Goggin, Patricia, Green, Ben, Harris, Amanda, Hunt, David, Jackson, Claire L., Lord, Jenny, Mennella, Vito, Thompson, James, Walker, Woolf T., Lucas, Jane S.

Published 2021

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20

A meckelin–filamin A interaction mediates ciliogenesis by Adams, Matthew, Simms, Roslyn J., Abdelhamed, Zakia, Dawe, Helen R., Szymanska, Katarzyna, Logan, Clare V., Wheway, Gabrielle, Pitt, Eva, Gull, Keith, Knowles, Margaret A., Blair, Edward, Cross, Sally H., Sayer, John A., Johnson, Colin A.

Published 2012

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Search Results - Wheway, Gabrielle

Opportunities and Challenges for Molecular Understanding of Ciliopathies–The 100,000 Genomes Project by Wheway, Gabrielle, Mitchison, Hannah M.

Corrigendum: Opportunities and Challenges for Molecular Understanding of Ciliopathies–The 100,000 Genomes Project by Wheway, Gabrielle, Mitchison, Hannah M.

Signaling through the Primary Cilium by Wheway, Gabrielle, Nazlamova, Liliya, Hancock, John T.

The role of primary cilia in the development and disease of the retina by Wheway, Gabrielle, Parry, David A, Johnson, Colin A

661W Photoreceptor Cell Line as a Cell Model for Studying Retinal Ciliopathies by Wheway, Gabrielle, Nazlamova, Liliya, Turner, Dann, Cross, Stephen

Mutation spectrum of PRPF31, genotype-phenotype correlation in retinitis pigmentosa, and opportunities for therapy by Wheway, Gabrielle, Douglas, Andrew, Baralle, Diana, Guillot, Elsa

An updated SYSCILIA gold standard (SCGSv2) of known ciliary genes, revealing the vast progress that has been made in the cilia research field by Vasquez, Suly Saray Villa, van Dam, John, Wheway, Gabrielle

Meckel–Gruber Syndrome: An Update on Diagnosis, Clinical Management, and Research Advances by Hartill, Verity, Szymanska, Katarzyna, Sharif, Saghira Malik, Wheway, Gabrielle, Johnson, Colin A.

A Combined in silico, in vitro and Clinical Approach to Characterize Novel Pathogenic Missense Variants in PRPF31 in Retinitis Pigmentosa by Wheway, Gabrielle, Nazlamova, Liliya, Meshad, Nervine, Hunt, Samantha, Jackson, Nicola, Churchill, Amanda

The SYSCILIA gold standard (SCGSv1) of known ciliary components and its applications within a systems biology consortium by van Dam, Teunis JP, Wheway, Gabrielle, Slaats, Gisela G, Huynen, Martijn A, Giles, Rachel H

Unlocking the potential of the UK 100,000 Genomes Project—lessons learned from analysis of the “Congenital Malformations caused by Ciliopathies” cohort by Best, Sunayna, Inglehearn, Chris F., Watson, Christopher M., Toomes, Carmel, Wheway, Gabrielle, Johnson, Colin A.

Nesprin-2 interacts with meckelin and mediates ciliogenesis via remodelling of the actin cytoskeleton by Dawe, Helen R., Adams, Matthew, Wheway, Gabrielle, Szymanska, Katarzyna, Logan, Clare V., Noegel, Angelika A., Gull, Keith, Johnson, Colin A.

A CRISPR and high-content imaging assay compliant with ACMG/AMP guidelines for clinical variant interpretation in ciliopathies by Nazlamova, Liliya, Thomas, N. Simon, Cheung, Man-Kim, Legebeke, Jelmer, Lord, Jenny, Pengelly, Reuben J., Tapper, William J., Wheway, Gabrielle

Regulation of canonical Wnt signalling by the ciliopathy protein MKS1 and the E2 ubiquitin-conjugating enzyme UBE2E1 by Szymanska, Katarzyna, Boldt, Karsten, Logan, Clare V, Adams, Matthew, Robinson, Philip A, Ueffing, Marius, Zeqiraj, Elton, Wheway, Gabrielle, Johnson, Colin A

The ciliary Frizzled-like receptor Tmem67 regulates canonical Wnt/β-catenin signalling in the developing cerebellum via Hoxb5 by Abdelhamed, Zakia A., Abdelmottaleb, Dina I., El-Asrag, Mohammed E., Natarajan, Subaashini, Wheway, Gabrielle, Inglehearn, Chris F., Toomes, Carmel, Johnson, Colin A.

Temporal Whole-Transcriptomic Analysis of Characterized In Vitro and Ex Vivo Primary Nasal Epithelia by Legebeke, Jelmer, Horton, Katie L., Jackson, Claire L., Coles, Janice, Harris, Amanda, Wai, Htoo A., Holloway, John W., Wheway, Gabrielle, Baralle, Diana, Lucas, Jane S.

A meckelin–filamin A interaction mediates ciliogenesis by Adams, Matthew, Simms, Roslyn J., Abdelhamed, Zakia, Dawe, Helen R., Szymanska, Katarzyna, Logan, Clare V., Wheway, Gabrielle, Pitt, Eva, Gull, Keith, Knowles, Margaret A., Blair, Edward, Cross, Sally H., Sayer, John A., Johnson, Colin A.

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