Anne K. Lampe

Edinburgh, SCT, United Kingdom

Last Updated: 09/26/2026

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Found 23 publications

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

CDK4 loss-of-function mutations cause microcephaly and short stature.

CDK4 loss-of-function mutations cause microcephaly and short stature.

Journal: Genes & development

Published: September 20, 2024

Should Scotland provide genome-wide sequencing for the diagnosis of rare developmental disorders? A cost-effectiveness analysis.

Should Scotland provide genome-wide sequencing for the diagnosis of rare developmental disorders? A cost-effectiveness analysis.

Journal: The European journal of health economics : HEPAC : health economics in prevention and care

Published: November 15, 2023

Large-scale evaluation of outcomes after a genetic diagnosis in children with severe developmental disorders.

Large-scale evaluation of outcomes after a genetic diagnosis in children with severe developmental disorders.

Journal: Genetics in medicine open

Published: November 14, 2023

Regulatory de novo mutations underlying intellectual disability.

Regulatory de novo mutations underlying intellectual disability.

Journal: Life science alliance

Published: November 21, 2022

Exome sequencing efficacy and phenotypic expansions involving esophageal atresia/tracheoesophageal fistula plus.

Exome sequencing efficacy and phenotypic expansions involving esophageal atresia/tracheoesophageal fistula plus.

Journal: American journal of medical genetics. Part A

Published: August 22, 2022

Expanding the neurodevelopmental phenotype associated with HK1 de novo heterozygous missense variants.

Expanding the neurodevelopmental phenotype associated with HK1 de novo heterozygous missense variants.

Journal: European journal of medical genetics

Published: August 21, 2022

SOX5: Lamb-Shaffer syndrome-A case series further expanding the phenotypic spectrum.

SOX5: Lamb-Shaffer syndrome-A case series further expanding the phenotypic spectrum.

Journal: American journal of medical genetics. Part A

Published: August 19, 2022

Genome sequencing with gene panel-based analysis for rare inherited conditions in a publicly funded healthcare system: implications for future testing.

Genome sequencing with gene panel-based analysis for rare inherited conditions in a publicly funded healthcare system: implications for future testing.

Journal: European journal of human genetics : EJHG

Published: August 17, 2022

Continuing the sequence? Towards an economic evaluation of whole genome sequencing for the diagnosis of rare diseases in Scotland.

Continuing the sequence? Towards an economic evaluation of whole genome sequencing for the diagnosis of rare diseases in Scotland.

Journal: Journal of community genetics

Published: March 02, 2021

BBS1 branchpoint variant is associated with non-syndromic retinitis pigmentosa.

BBS1 branchpoint variant is associated with non-syndromic retinitis pigmentosa.

Journal: Journal of medical genetics

Published: December 01, 2020

A short-sighted approach to high myopia-not just an eye problem.

A short-sighted approach to high myopia-not just an eye problem.

Journal: Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus

Published: October 22, 2020

Showing 1-12 of 23

Last Updated: 09/26/2026