Ana Topf

Central Parkway
Newcastle Upon Tyne, ENG, United Kingdom

Last Updated: 09/26/2026

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Found 166 publications

Structural variant discovery and diagnostic impact in rare diseases from short-read and long-read sequencing.

Structural variant discovery and diagnostic impact in rare diseases from short-read and long-read sequencing.

Journal: medRxiv : the preprint server for health sciences

Published: July 03, 2026

Author Correction: The Solve-RD Solvathons as a pan-European interdisciplinary collaboration to diagnose patients with rare disease.

Author Correction: The Solve-RD Solvathons as a pan-European interdisciplinary collaboration to diagnose patients with rare disease.

Journal: Nature genetics

Published: January 06, 2026

Cracking the Code: Genotype-Phenotype Correlation Models in Sarcoglycanopathies.

Cracking the Code: Genotype-Phenotype Correlation Models in Sarcoglycanopathies.

Journal: Annals of clinical and translational neurology

Published: November 21, 2025

A Homozygous CPSF1 Variant Causes Congenital Cataract, Intellectual Disability and Hyperphagia.

A Homozygous CPSF1 Variant Causes Congenital Cataract, Intellectual Disability and Hyperphagia.

Journal: Clinical genetics

Published: October 08, 2025

Missense variants in TUBA4A cause myo-tubulinopathies.

Missense variants in TUBA4A cause myo-tubulinopathies.

Journal: medRxiv : the preprint server for health sciences

Published: July 16, 2025

Missense variants in TUBA4A cause myo-tubulinopathies.

Missense variants in TUBA4A cause myo-tubulinopathies.

Journal: Brain : a journal of neurology

Published: June 26, 2025

SNUPN-Related Muscular Dystrophy: Novel Phenotypic, Pathological and Functional Protein Insights.

SNUPN-Related Muscular Dystrophy: Novel Phenotypic, Pathological and Functional Protein Insights.

Journal: Annals of clinical and translational neurology

Published: June 25, 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

Decoding genetic complexity in glycogen storage diseases: three novel variants in SLC37A4, GAA, and PHKG2 identified in an Iranian cohort.

Decoding genetic complexity in glycogen storage diseases: three novel variants in SLC37A4, GAA, and PHKG2 identified in an Iranian cohort.

Journal: Neuromuscular disorders : NMD

Published: May 22, 2025

The Solve-RD Solvathons as a pan-European interdisciplinary collaboration to diagnose patients with rare disease.

The Solve-RD Solvathons as a pan-European interdisciplinary collaboration to diagnose patients with rare disease.

Journal: Nature genetics

Published: April 11, 2025

A homozygous variant in the beta-1,3-N-acetylglucosaminyltransferase 4 gene causes progressive brain atrophy and muscular dystrophy.

A homozygous variant in the beta-1,3-N-acetylglucosaminyltransferase 4 gene causes progressive brain atrophy and muscular dystrophy.

Journal: European journal of human genetics : EJHG

Published: March 13, 2025

Multi-omics approach identifies a novel recessive pathogenic variant in the TNNT3 gene in two siblings with congenital myopathy.

Multi-omics approach identifies a novel recessive pathogenic variant in the TNNT3 gene in two siblings with congenital myopathy.

Journal: Neuromuscular disorders : NMD

Published: March 11, 2025

Showing 1-12 of 166

Last Updated: 09/26/2026