Jeroen L. Knijnenburg

Leiden, ZH, Netherlands

Last Updated: 09/26/2026

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Found 28 publications

A novel α0-thalassemia deletion in a Brazilian child with Hb H disease: --Mococa.

A novel α0-thalassemia deletion in a Brazilian child with Hb H disease: --Mococa.

Journal: International journal of laboratory hematology

Published: January 04, 2024

Moderate-severe beta-thalassemia intermedia phenotype caused by sextuplicated alpha-globin gene allele in two beta-thalassemia carriers.

Moderate-severe beta-thalassemia intermedia phenotype caused by sextuplicated alpha-globin gene allele in two beta-thalassemia carriers.

Journal: American journal of hematology

Published: December 06, 2023

Clinically Relevant Germline Variants in Children With Nonmedullary Thyroid Cancer.

Clinically Relevant Germline Variants in Children With Nonmedullary Thyroid Cancer.

Journal: The Journal of clinical endocrinology and metabolism

Published: July 18, 2023

The arrhythmogenic cardiomyopathy phenotype associated with PKP2 c.1211dup variant.

The arrhythmogenic cardiomyopathy phenotype associated with PKP2 c.1211dup variant.

Journal: Netherlands heart journal : monthly journal of the Netherlands Society of Cardiology and the Netherlands Heart Foundation

Published: May 30, 2023

Acquisition of a glycosylated B-cell receptor drives follicular lymphoma toward a dark zone phenotype.

Acquisition of a glycosylated B-cell receptor drives follicular lymphoma toward a dark zone phenotype.

Journal: Blood advances

Published: May 26, 2023

Autonomous B-cell receptor signaling and genetic aberrations in chronic lymphocytic leukemia-phenotype monoclonal B lymphocytosis in siblings of patients with chronic lymphocytic leukemia.

Autonomous B-cell receptor signaling and genetic aberrations in chronic lymphocytic leukemia-phenotype monoclonal B lymphocytosis in siblings of patients with chronic lymphocytic leukemia.

Journal: Haematologica

Published: March 01, 2023

Reclassification of a likely pathogenic Dutch founder variant in KCNH2; implications of reduced penetrance.

Reclassification of a likely pathogenic Dutch founder variant in KCNH2; implications of reduced penetrance.

Journal: Human molecular genetics

Published: August 23, 2022

Expanding the HPSE2 Genotypic Spectrum in Urofacial Syndrome, A Disease Featuring a Peripheral Neuropathy of the Urinary Bladder.

Expanding the HPSE2 Genotypic Spectrum in Urofacial Syndrome, A Disease Featuring a Peripheral Neuropathy of the Urinary Bladder.

Journal: Frontiers in genetics

Published: March 15, 2022

Hearing loss, cleft palate, and congenital hip dysplasia in female carriers of an intragenic deletion of AMMECR1.

Hearing loss, cleft palate, and congenital hip dysplasia in female carriers of an intragenic deletion of AMMECR1.

Journal: American journal of medical genetics. Part A

Published: August 17, 2021

Does non-invasive prenatal testing affect the livebirth prevalence of Down syndrome in the Netherlands? A population-based register study.

Does non-invasive prenatal testing affect the livebirth prevalence of Down syndrome in the Netherlands? A population-based register study.

Journal: Prenatal diagnosis

Published: April 20, 2021

Intracerebral hemorrhage in a neonate with an intragenic COL4A2 duplication.

Intracerebral hemorrhage in a neonate with an intragenic COL4A2 duplication.

Journal: American journal of medical genetics. Part A

Published: July 17, 2020

A Woman with Missing Hb A2 Due to a Novel (εγ)δβ0-Thalassemia and a Novel δ-Globin Variant Hb A2-Gebenstorf (HBD: c.209G>A).

A Woman with Missing Hb A2 Due to a Novel (εγ)δβ0-Thalassemia and a Novel δ-Globin Variant Hb A2-Gebenstorf (HBD: c.209G>A).

Journal: Hemoglobin

Published: July 02, 2020

Showing 1-12 of 28

Last Updated: 09/26/2026