Adam J. Jackson

Stott Lane
Salford, ENG, United Kingdom

Last Updated: 09/26/2026

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Found 59 publications

High-Pressure Inelastic Neutron Spectroscopy: Experimental Validation of Machine-Learned Interatomic Potential Energy Landscapes.

High-Pressure Inelastic Neutron Spectroscopy: Experimental Validation of Machine-Learned Interatomic Potential Energy Landscapes.

Journal: The journal of physical chemistry letters

Published: June 05, 2026

The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder.

The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder.

Journal: American journal of human genetics

Published: October 19, 2025

Biallelic variants in RNU2-2 cause a remarkably frequent developmental and epileptic encephalopathy.

Biallelic variants in RNU2-2 cause a remarkably frequent developmental and epileptic encephalopathy.

Journal: Nature genetics

Published: September 02, 2025

Biallelic GLTP mutations cause nonsyndromic epidermal differentiation disorder via disrupted epidermal glucosylceramide transport.

Biallelic GLTP mutations cause nonsyndromic epidermal differentiation disorder via disrupted epidermal glucosylceramide transport.

Journal: The Journal of clinical investigation

Published: August 06, 2025

Publisher Correction: Analysis of R-loop forming regions identifies RNU2-2 and RNU5B-1 as neurodevelopmental disorder genes.

Publisher Correction: Analysis of R-loop forming regions identifies RNU2-2 and RNU5B-1 as neurodevelopmental disorder genes.

Journal: Nature genetics

Published: June 24, 2025

Publisher Correction: Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses.

Publisher Correction: Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses.

Journal: Nature medicine

Published: June 19, 2025

Epigenome and transcriptome changes in KMT2D-related Kabuki syndrome Type 1 iPSCs, neuronal progenitors and cortical neurons.

Epigenome and transcriptome changes in KMT2D-related Kabuki syndrome Type 1 iPSCs, neuronal progenitors and cortical neurons.

Journal: PLoS genetics

Published: February 10, 2025

PIGC-related encephalopathy: Lessons learned from 18 new probands.

PIGC-related encephalopathy: Lessons learned from 18 new probands.

Journal: European journal of human genetics : EJHG

Published: January 19, 2025

Acute-onset axonal neuropathy following infection in children with biallelic RCC1 variants: a case series.

Acute-onset axonal neuropathy following infection in children with biallelic RCC1 variants: a case series.

Journal: The Lancet. Neurology

Published: January 07, 2025

Analysis of R-loop forming regions identifies RNU2-2 and RNU5B-1 as neurodevelopmental disorder genes.

Analysis of R-loop forming regions identifies RNU2-2 and RNU5B-1 as neurodevelopmental disorder genes.

Journal: Nature genetics

Published: October 03, 2024

Discovery of DNA methylation signature in the peripheral blood of individuals with history of antenatal exposure to valproic acid.

Discovery of DNA methylation signature in the peripheral blood of individuals with history of antenatal exposure to valproic acid.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: February 15, 2024

The impact of inversions across 33,924 families with rare disease from a national genome sequencing project.

The impact of inversions across 33,924 families with rare disease from a national genome sequencing project.

Journal: American journal of human genetics

Published: November 12, 2023

Showing 1-12 of 59

Last Updated: 09/26/2026