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Publications

Lifelines COVID-19 cohort: investigating COVID-19 infection and its health and societal impacts in a Dutch population-based cohort

Using symptom-based case predictions to identify host genetic factors that contribute to COVID-19 susceptibility

De novo TBR1 variants cause a neurocognitive phenotype with ID and autistic traits: report of 25 new individuals and review of the literature

Expanding the clinical and genetic spectrum of ALPK3 variants: Phenotypes identified in pediatric cardiomyopathy patients and adults with heterozygous variants

Homozygous damaging SOD2 variant causes lethal neonatal dilated cardiomyopathy

Utility of genetics for risk stratification in paediatric dilated cardiomyopathy

ZMYND11-related syndromic intellectual disability: 16 patients delineating and expanding the phenotypic spectrum

Biallelic Variants in ASNA1, Encoding a Cytosolic Targeting Factor of Tail-Anchored Proteins, Cause Rapidly Progressive Pediatric Cardiomyopathy

Correction: The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome

Improving diagnostic yield of exome-sequencing through prioritization of genes with predicted HPO assignments

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