Klaas J. Wierenga

Medical Genetics | Pediatrics

1600 Sw Archer Rd
Gainesville, FL 32610

Last Updated: 09/26/2026

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Found 64 publications

Unmasking Compound Heterozygosity in GYG1 Myopathy: Diagnostic Insights From RNA-Seq and Long-Read Genomics.

Unmasking Compound Heterozygosity in GYG1 Myopathy: Diagnostic Insights From RNA-Seq and Long-Read Genomics.

Journal: Clinical genetics

Published: February 11, 2026

Clinical and molecular characterization of SLC31A1-related developmental and epileptic encephalopathy: insights from 13 new cases.

Clinical and molecular characterization of SLC31A1-related developmental and epileptic encephalopathy: insights from 13 new cases.

Journal: Brain communications

Published: January 13, 2025

Hyperphosphatemic Familial Tumoral Calcinosis.

Hyperphosphatemic Familial Tumoral Calcinosis.

Journal: Southern medical journal

Published: December 02, 2024

Correction: Implementation of genomic medicine for rare disease in a tertiary healthcare system: Mayo Clinic Program for Rare and Undiagnosed Diseases (PRaUD).

Correction: Implementation of genomic medicine for rare disease in a tertiary healthcare system: Mayo Clinic Program for Rare and Undiagnosed Diseases (PRaUD).

Journal: Journal of translational medicine

Published: April 30, 2024

De novo and inherited monoallelic variants in TUBA4A cause ataxia and spasticity.

De novo and inherited monoallelic variants in TUBA4A cause ataxia and spasticity.

Journal: Brain : a journal of neurology

Published: January 28, 2024

Statistical Mechanics Metrics in Pairing and Parsing In Silico and Phenotypic Data of a Novel Genetic NFκB1 (c.T638A) Variant.

Statistical Mechanics Metrics in Pairing and Parsing In Silico and Phenotypic Data of a Novel Genetic NFκB1 (c.T638A) Variant.

Journal: Genes

Published: August 21, 2023

Exploring the phenotypic spectrum and osteopenia mechanisms in Yunis-Varón syndrome.

Exploring the phenotypic spectrum and osteopenia mechanisms in Yunis-Varón syndrome.

Journal: Genetics in medicine open

Published: August 11, 2023

Adult-onset leukodystrophies: a practical guide, recent treatment updates, and future directions.

Adult-onset leukodystrophies: a practical guide, recent treatment updates, and future directions.

Journal: Frontiers in neurology

Published: May 08, 2023

Implementation of genomic medicine for rare disease in a tertiary healthcare system: Mayo Clinic Program for Rare and Undiagnosed Diseases (PRaUD).

Implementation of genomic medicine for rare disease in a tertiary healthcare system: Mayo Clinic Program for Rare and Undiagnosed Diseases (PRaUD).

Journal: Journal of translational medicine

Published: February 22, 2023

Impact of integrated translational research on clinical exome sequencing.

Impact of integrated translational research on clinical exome sequencing.

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

Published: February 06, 2023

Bi-allelic variants in HMGCR cause an autosomal-recessive progressive limb-girdle muscular dystrophy.

Bi-allelic variants in HMGCR cause an autosomal-recessive progressive limb-girdle muscular dystrophy.

Journal: American journal of human genetics

Published: September 07, 2022

Reply to: "The First Allogeneic Hematopoietic Stem Cell Transplantation in a Polish Patient with Adult-Onset Leukoencephalopathy with Spheroids and Pigmented Glia".

Reply to: "The First Allogeneic Hematopoietic Stem Cell Transplantation in a Polish Patient with Adult-Onset Leukoencephalopathy with Spheroids and Pigmented Glia".

Journal: Movement disorders : official journal of the Movement Disorder Society

Published: April 29, 2022

Showing 1-12 of 64

Last Updated: 09/26/2026