Richard J. Sinke

Groningen, GR, Netherlands

Last Updated: 09/26/2026

Save publications for later

Sign Up

Not sure about your diagnosis?

Check Your Symptoms

Found 62 publications

Whole-Exome Sequencing Revealed a Novel De Novo Pathogenic EFTUD2 Variant in Mandibulofacial Dysostosis, Guion-Almeida Type: Reinforcing Links to Choanal and Oesophageal Atresia.

Whole-Exome Sequencing Revealed a Novel De Novo Pathogenic EFTUD2 Variant in Mandibulofacial Dysostosis, Guion-Almeida Type: Reinforcing Links to Choanal and Oesophageal Atresia.

Journal: International journal of developmental neuroscience : the official journal of the International Society for Developmental Neuroscience

Published: April 07, 2025

Newborn Screening by DNA-First: Systematic Evaluation of the Eligibility of Inherited Metabolic Disorders Based on Treatability.

Newborn Screening by DNA-First: Systematic Evaluation of the Eligibility of Inherited Metabolic Disorders Based on Treatability.

Journal: International journal of neonatal screening

Published: October 14, 2024

Evolution of genome diagnostics in epidermolysis bullosa: Unveiling the power of next-generation sequencing.

Evolution of genome diagnostics in epidermolysis bullosa: Unveiling the power of next-generation sequencing.

Journal: Journal of the European Academy of Dermatology and Venereology : JEADV

Published: September 08, 2023

Rapid exome sequencing as a first-tier test in neonates with suspected genetic disorder: results of a prospective multicenter clinical utility study in the Netherlands.

Rapid exome sequencing as a first-tier test in neonates with suspected genetic disorder: results of a prospective multicenter clinical utility study in the Netherlands.

Journal: European journal of pediatrics

Published: June 02, 2022

Phenotypic expansion of EGP5-related Vici syndrome: 15 Dutch patients carrying a founder variant.

Phenotypic expansion of EGP5-related Vici syndrome: 15 Dutch patients carrying a founder variant.

Journal: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society

Published: March 08, 2022

Towards Next-Generation Sequencing (NGS)-Based Newborn Screening: A Technical Study to Prepare for the Challenges Ahead.

Towards Next-Generation Sequencing (NGS)-Based Newborn Screening: A Technical Study to Prepare for the Challenges Ahead.

Journal: International journal of neonatal screening

Published: December 24, 2021

Low Detection Rates of Genetic FH in Cohort of Patients With Severe Hypercholesterolemia in the United Arabic Emirates.

Low Detection Rates of Genetic FH in Cohort of Patients With Severe Hypercholesterolemia in the United Arabic Emirates.

Journal: Frontiers in genetics

Published: November 04, 2021

Feasibility of predicting allele specific expression from DNA sequencing using machine learning.

Feasibility of predicting allele specific expression from DNA sequencing using machine learning.

Journal: Scientific reports

Published: January 21, 2021

Diagnostic yield of targeted next generation sequencing in 2002 Dutch cardiomyopathy patients.

Diagnostic yield of targeted next generation sequencing in 2002 Dutch cardiomyopathy patients.

Journal: International journal of cardiology

Published: December 11, 2020

Rare functional missense variants in CACNA1H: What can we learn from Writer's cramp?

Rare functional missense variants in CACNA1H: What can we learn from Writer's cramp?

Journal: Molecular brain

Published: December 02, 2020

CAPICE: a computational method for Consequence-Agnostic Pathogenicity Interpretation of Clinical Exome variations.

CAPICE: a computational method for Consequence-Agnostic Pathogenicity Interpretation of Clinical Exome variations.

Journal: Genome medicine

Published: November 25, 2019

Homozygous damaging SOD2 variant causes lethal neonatal dilated cardiomyopathy.

Homozygous damaging SOD2 variant causes lethal neonatal dilated cardiomyopathy.

Journal: Journal of medical genetics

Published: May 30, 2019

Showing 1-12 of 62

Last Updated: 09/26/2026