Alistair T. Pagnamenta

Exeter, ENG, United Kingdom

Last Updated: 09/26/2026

Save publications for later

Sign Up

Not sure about your diagnosis?

Check Your Symptoms

Found 118 publications

A genome-wide deletion map in 125,730 individuals for novel rare disease gene and variant discovery.

A genome-wide deletion map in 125,730 individuals for novel rare disease gene and variant discovery.

Journal: medRxiv : the preprint server for health sciences

Published: May 25, 2026

Blood-based RNA-Seq of 5412 individuals with rare disease identifies new candidate diagnoses in the National Genomic Research Library.

Blood-based RNA-Seq of 5412 individuals with rare disease identifies new candidate diagnoses in the National Genomic Research Library.

Journal: medRxiv : the preprint server for health sciences

Published: April 03, 2026

Uncovering apparent incomplete penetrance of TSC1/TSC2 variants: Insights from multiple population cohorts and implications for newborn screening.

Uncovering apparent incomplete penetrance of TSC1/TSC2 variants: Insights from multiple population cohorts and implications for newborn screening.

Journal: European journal of human genetics : EJHG

Published: January 31, 2026

Reduced penetrance of COL1A1/2 pathogenic variants linked with osteogenesis imperfecta: analysis of a large population cohort.

Reduced penetrance of COL1A1/2 pathogenic variants linked with osteogenesis imperfecta: analysis of a large population cohort.

Journal: European journal of human genetics : EJHG

Published: January 30, 2026

Detecting pathogenic structural variation in families with undiagnosed rare disease in a national genome project.

Detecting pathogenic structural variation in families with undiagnosed rare disease in a national genome project.

Journal: European journal of human genetics : EJHG

Published: December 22, 2025

Refinement of Connective Tissue Disorder Diagnosis From Marfan to Loeys-Dietz Syndrome Type 4-End of a 30-Year Diagnostic Odyssey.

Refinement of Connective Tissue Disorder Diagnosis From Marfan to Loeys-Dietz Syndrome Type 4-End of a 30-Year Diagnostic Odyssey.

Journal: American journal of medical genetics. Part A

Published: October 15, 2025

Haplotype studies and the use of a nearby tagging variant confirm a founder origin for an intragenic CYP11B1 inversion.

Haplotype studies and the use of a nearby tagging variant confirm a founder origin for an intragenic CYP11B1 inversion.

Journal: Journal of medical genetics

Published: September 29, 2025

Hypertrophic cardiomyopathy caused by filamin-C variants has restrictive and extracardiac features and a distinctive ECG.

Hypertrophic cardiomyopathy caused by filamin-C variants has restrictive and extracardiac features and a distinctive ECG.

Journal: Heart rhythm

Published: September 15, 2025

Palindrome-mediated 16p13.3 triplications cause a recognizable neurodegenerative disorder with ataxia.

Palindrome-mediated 16p13.3 triplications cause a recognizable neurodegenerative disorder with ataxia.

Journal: American journal of human genetics

Published: July 28, 2025

Empathy in mild cognitive impairment: a preliminary clinical comparative study in Southern Switzerland using the interpersonal reactivity index (IRI) and the story-based empathy task (SET).

Empathy in mild cognitive impairment: a preliminary clinical comparative study in Southern Switzerland using the interpersonal reactivity index (IRI) and the story-based empathy task (SET).

Journal: Frontiers in aging neuroscience

Published: July 11, 2025

Utility of genome sequencing and group-enrichment to support splice variant interpretation in Marfan syndrome.

Utility of genome sequencing and group-enrichment to support splice variant interpretation in Marfan syndrome.

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

Published: January 27, 2025

Ide Copy Number Variant Does Not Influence Stroke Severity in 2 C57BL/6J Mouse Models nor in Humans: An Exploratory Study.

Ide Copy Number Variant Does Not Influence Stroke Severity in 2 C57BL/6J Mouse Models nor in Humans: An Exploratory Study.

Journal: Stroke

Published: January 27, 2025

Showing 1-12 of 118

Last Updated: 09/26/2026