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Adam Jackson

Showing results (31-40 of 63) with videos related to

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Clinical Genetics|October 6, 2021
Biallelic TMEM260 variants cause truncus arteriosus, with or without renal defectsAlistair T Pagnamenta, Adam Jackson, Rahat Perveen, et al.
HGG Advances|April 3, 2023
Clinical, genetic, epidemiologic, evolutionary, and functional delineation of <i>TSPEAR</i>-related autosomal recessive ectodermal dysplasia 14Adam Jackson, Sheng-Jia Lin, Elizabeth A Jones, et al.
Orphanet Journal of Rare Diseases|July 21, 2019
Diagnosis and management of individuals with Fetal Valproate Spectrum Disorder; a consensus statement from the European Reference Network for Congenital Malformations and Intellectual DisabilityJill Clayton-Smith, Rebecca Bromley, John Dean, et al.
Nature Genetics|May 29, 2025
Analysis of R-loop forming regions identifies RNU2-2 and RNU5B-1 as neurodevelopmental disorder genesAdam Jackson, Nishi Thaker, Alexander Blakes, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 4, 2024
Discovery of DNA methylation signature in the peripheral blood of individuals with history of antenatal exposure to valproic acidSadegheh Haghshenas, Audrey Putoux, Jack Reilly, et al.
Plos One|August 13, 2021
Identification and functional modelling of plausibly causative cis-regulatory variants in a highly-selected cohort with X-linked intellectual disabilityHemant Bengani, Detelina Grozeva, Lambert Moyon, et al.
Nature|April 12, 2019
Prioritization of cancer therapeutic targets using CRISPR-Cas9 screensFiona M Behan, Francesco Iorio, Gabriele Picco, et al.
American Journal of Human Genetics|February 3, 2016
Small 6q16.1 Deletions Encompassing POU3F2 Cause Susceptibility to Obesity and Variable Developmental Delay with Intellectual DisabilityPaul R Kasher, Katherine E Schertz, Megan Thomas, et al.
European Journal of Human Genetics : EJHG|September 17, 2025
PIGC-related encephalopathy: Lessons learned from 18 new probandsAllan Bayat, Maria Carla Borroto, Smrithi Salian, et al.
Molecular Autism|May 25, 2025
Better statistical reporting does not lead to statistical rigour: lessons from two decades of pseudoreplication in mouse-model studies of neurological disordersConstantinos Eleftheriou, Sarah Giachetti, Raven Hickson, et al.
Pageof 7

Showing results (31-40 of 63) with videos related to

Sort By:
Pageof 7
Clinical Genetics|October 6, 2021
Biallelic TMEM260 variants cause truncus arteriosus, with or without renal defectsAlistair T Pagnamenta, Adam Jackson, Rahat Perveen, et al.
HGG Advances|April 3, 2023
Clinical, genetic, epidemiologic, evolutionary, and functional delineation of <i>TSPEAR</i>-related autosomal recessive ectodermal dysplasia 14Adam Jackson, Sheng-Jia Lin, Elizabeth A Jones, et al.
Orphanet Journal of Rare Diseases|July 21, 2019
Diagnosis and management of individuals with Fetal Valproate Spectrum Disorder; a consensus statement from the European Reference Network for Congenital Malformations and Intellectual DisabilityJill Clayton-Smith, Rebecca Bromley, John Dean, et al.
Nature Genetics|May 29, 2025
Analysis of R-loop forming regions identifies RNU2-2 and RNU5B-1 as neurodevelopmental disorder genesAdam Jackson, Nishi Thaker, Alexander Blakes, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 4, 2024
Discovery of DNA methylation signature in the peripheral blood of individuals with history of antenatal exposure to valproic acidSadegheh Haghshenas, Audrey Putoux, Jack Reilly, et al.
Plos One|August 13, 2021
Identification and functional modelling of plausibly causative cis-regulatory variants in a highly-selected cohort with X-linked intellectual disabilityHemant Bengani, Detelina Grozeva, Lambert Moyon, et al.
Nature|April 12, 2019
Prioritization of cancer therapeutic targets using CRISPR-Cas9 screensFiona M Behan, Francesco Iorio, Gabriele Picco, et al.
American Journal of Human Genetics|February 3, 2016
Small 6q16.1 Deletions Encompassing POU3F2 Cause Susceptibility to Obesity and Variable Developmental Delay with Intellectual DisabilityPaul R Kasher, Katherine E Schertz, Megan Thomas, et al.
European Journal of Human Genetics : EJHG|September 17, 2025
PIGC-related encephalopathy: Lessons learned from 18 new probandsAllan Bayat, Maria Carla Borroto, Smrithi Salian, et al.
Molecular Autism|May 25, 2025
Better statistical reporting does not lead to statistical rigour: lessons from two decades of pseudoreplication in mouse-model studies of neurological disordersConstantinos Eleftheriou, Sarah Giachetti, Raven Hickson, et al.
Pageof 7