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James Fasham

Showing results (1-10 of 22) with videos related to

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Journal of Medical Genetics|August 27, 2020
Assessing performance of pathogenicity predictors using clinically relevant variant datasetsAdam C Gunning, Verity Fryer, James Fasham, et al.
European Journal of Human Genetics : EJHG|July 2, 2026
Characterisation of the SMN1/2 locus using a highly specific variant caller on whole-genome sequence data from 500,000 individualsTimothy S Hall, Robin N Beaumont, James Fasham, et al.
BMC Medical Genetics|August 25, 2019
Novel nonsense variants in SLURP1 and DSG1 cause palmoplantar keratoderma in Pakistani familiesAbida Akbar, Claire Prince, Chloe Payne, et al.
European Journal of Human Genetics : EJHG|May 12, 2026
Reduced penetrance of COL1A1/2 pathogenic variants linked with osteogenesis imperfecta: analysis of a large population cohortAlistair T Pagnamenta, James Fasham, Robin N Beaumont, et al.
Plos Genetics|November 20, 2020
No association between SCN9A and monogenic human epilepsy disordersJames Fasham, Joseph S Leslie, Jamie W Harrison, et al.
European Journal of Human Genetics : EJHG|January 10, 2019
An Amish founder variant consolidates disruption of CEP55 as a cause of hydranencephaly and renal dysplasiaLettie E Rawlins, Hannah Jones, Olivia Wenger, et al.
Brain Sciences|June 2, 2021
Final Exon Frameshift Biallelic <i>PTPN23</i> Variants Are Associated with Microcephalic Complex Hereditary Spastic ParaplegiaReham Khalaf-Nazzal, James Fasham, Nishanka Ubeyratna, et al.
Frontiers in Genetics|April 8, 2022
CLCC1 c. 75C>A Mutation in Pakistani Derived Retinitis Pigmentosa Families Likely Originated With a Single Founder Mutation 2,000-5,000 Years AgoYan Ma, Xun Wang, Nadav Shoshany, et al.
European Journal of Human Genetics : EJHG|May 20, 2021
Consolidating biallelic SDHD variants as a cause of mitochondrial complex II deficiencySiying Lin, James Fasham, Fida' Al-Hijawi, et al.
European Journal of Human Genetics : EJHG|September 20, 2019
MNS1 variant associated with situs inversus and male infertilityJoseph S Leslie, Lettie E Rawlins, Barry A Chioza, et al.
Pageof 3

Showing results (1-10 of 22) with videos related to

Sort By:
Pageof 3
Journal of Medical Genetics|August 27, 2020
Assessing performance of pathogenicity predictors using clinically relevant variant datasetsAdam C Gunning, Verity Fryer, James Fasham, et al.
European Journal of Human Genetics : EJHG|July 2, 2026
Characterisation of the SMN1/2 locus using a highly specific variant caller on whole-genome sequence data from 500,000 individualsTimothy S Hall, Robin N Beaumont, James Fasham, et al.
BMC Medical Genetics|August 25, 2019
Novel nonsense variants in SLURP1 and DSG1 cause palmoplantar keratoderma in Pakistani familiesAbida Akbar, Claire Prince, Chloe Payne, et al.
European Journal of Human Genetics : EJHG|May 12, 2026
Reduced penetrance of COL1A1/2 pathogenic variants linked with osteogenesis imperfecta: analysis of a large population cohortAlistair T Pagnamenta, James Fasham, Robin N Beaumont, et al.
Plos Genetics|November 20, 2020
No association between SCN9A and monogenic human epilepsy disordersJames Fasham, Joseph S Leslie, Jamie W Harrison, et al.
European Journal of Human Genetics : EJHG|January 10, 2019
An Amish founder variant consolidates disruption of CEP55 as a cause of hydranencephaly and renal dysplasiaLettie E Rawlins, Hannah Jones, Olivia Wenger, et al.
Brain Sciences|June 2, 2021
Final Exon Frameshift Biallelic <i>PTPN23</i> Variants Are Associated with Microcephalic Complex Hereditary Spastic ParaplegiaReham Khalaf-Nazzal, James Fasham, Nishanka Ubeyratna, et al.
Frontiers in Genetics|April 8, 2022
CLCC1 c. 75C>A Mutation in Pakistani Derived Retinitis Pigmentosa Families Likely Originated With a Single Founder Mutation 2,000-5,000 Years AgoYan Ma, Xun Wang, Nadav Shoshany, et al.
European Journal of Human Genetics : EJHG|May 20, 2021
Consolidating biallelic SDHD variants as a cause of mitochondrial complex II deficiencySiying Lin, James Fasham, Fida' Al-Hijawi, et al.
European Journal of Human Genetics : EJHG|September 20, 2019
MNS1 variant associated with situs inversus and male infertilityJoseph S Leslie, Lettie E Rawlins, Barry A Chioza, et al.
Pageof 3