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Reuben J Pengelly

Showing results (21-30 of 43) with videos related to

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BMC Molecular and Cell Biology|September 9, 2025
Rescue of ciliogenesis and hyperglutamylation mutant phenotype in AGBL5<sup>-/-</sup> cell model of retinitis pigmentosaSuly S Villa-Vasquez, Liliya Nazlamova, Reuben J Pengelly, et al.
Frontiers in Pediatrics|June 8, 2017
Unexpected Findings in a Child with Atypical Hemolytic Uremic Syndrome: An Example of How Genomics Is Changing the Clinical Diagnostic ParadigmEleanor G Seaby, Rodney D Gilbert, Gaia Andreoletti, et al.
Human Genetics|October 23, 2020
A CRISPR and high-content imaging assay compliant with ACMG/AMP guidelines for clinical variant interpretation in ciliopathiesLiliya Nazlamova, N Simon Thomas, Man-Kim Cheung, et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association|September 9, 2015
Collagen (COL4A) mutations are the most frequent mutations underlying adult focal segmental glomerulosclerosisChristine Gast, Reuben J Pengelly, Matthew Lyon, et al.
Scientific Reports|May 16, 2015
Adult-Onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia Caused by a Novel R782G Mutation in CSF1RNicola Foulds, Reuben J Pengelly, Simon R Hammans, et al.
Scientific Reports|July 27, 2016
Deleterious coding variants in multi-case families with non-syndromic cleft lip and/or palate phenotypesReuben J Pengelly, Liliana Arias, Julio Martínez, et al.
Clinical & Translational Immunology|October 7, 2017
Autoimmunity/inflammation in a monogenic primary immunodeficiency cohortWilliam Rae, Daniel Ward, Christopher J Mattocks, et al.
The Journal of Molecular Diagnostics : JMD|June 25, 2018
Analysis of Mutation and Loss of Heterozygosity by Whole-Exome Sequencing Yields Insights into Pseudomyxoma PeritoneiReuben J Pengelly, Babatunde Rowaiye, Karen Pickard, et al.
Inflammatory Bowel Diseases|August 30, 2014
Immuno-genomic profiling of patients with inflammatory bowel disease: a systematic review of genetic and functional in vivo studies of implicated genesTracy Coelho, Gaia Andreoletti, James J Ashton, et al.
Clinical Immunology (Orlando, Fla.)|July 23, 2016
Precision treatment with sirolimus in a case of activated phosphoinositide 3-kinase δ syndromeWilliam Rae, Kesava A Ramakrishnan, Yifang Gao, et al.
Pageof 5

Showing results (21-30 of 43) with videos related to

Sort By:
Pageof 5
BMC Molecular and Cell Biology|September 9, 2025
Rescue of ciliogenesis and hyperglutamylation mutant phenotype in AGBL5<sup>-/-</sup> cell model of retinitis pigmentosaSuly S Villa-Vasquez, Liliya Nazlamova, Reuben J Pengelly, et al.
Frontiers in Pediatrics|June 8, 2017
Unexpected Findings in a Child with Atypical Hemolytic Uremic Syndrome: An Example of How Genomics Is Changing the Clinical Diagnostic ParadigmEleanor G Seaby, Rodney D Gilbert, Gaia Andreoletti, et al.
Human Genetics|October 23, 2020
A CRISPR and high-content imaging assay compliant with ACMG/AMP guidelines for clinical variant interpretation in ciliopathiesLiliya Nazlamova, N Simon Thomas, Man-Kim Cheung, et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association|September 9, 2015
Collagen (COL4A) mutations are the most frequent mutations underlying adult focal segmental glomerulosclerosisChristine Gast, Reuben J Pengelly, Matthew Lyon, et al.
Scientific Reports|May 16, 2015
Adult-Onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia Caused by a Novel R782G Mutation in CSF1RNicola Foulds, Reuben J Pengelly, Simon R Hammans, et al.
Scientific Reports|July 27, 2016
Deleterious coding variants in multi-case families with non-syndromic cleft lip and/or palate phenotypesReuben J Pengelly, Liliana Arias, Julio Martínez, et al.
Clinical & Translational Immunology|October 7, 2017
Autoimmunity/inflammation in a monogenic primary immunodeficiency cohortWilliam Rae, Daniel Ward, Christopher J Mattocks, et al.
The Journal of Molecular Diagnostics : JMD|June 25, 2018
Analysis of Mutation and Loss of Heterozygosity by Whole-Exome Sequencing Yields Insights into Pseudomyxoma PeritoneiReuben J Pengelly, Babatunde Rowaiye, Karen Pickard, et al.
Inflammatory Bowel Diseases|August 30, 2014
Immuno-genomic profiling of patients with inflammatory bowel disease: a systematic review of genetic and functional in vivo studies of implicated genesTracy Coelho, Gaia Andreoletti, James J Ashton, et al.
Clinical Immunology (Orlando, Fla.)|July 23, 2016
Precision treatment with sirolimus in a case of activated phosphoinositide 3-kinase δ syndromeWilliam Rae, Kesava A Ramakrishnan, Yifang Gao, et al.
Pageof 5