Detlef Trost

Frepillon, France

Last Updated: 09/26/2026

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Found 20 publications

French Guidelines of the AchroPuce Network for the Interpretation and Reporting of Constitutional Copy Number Variants.

French Guidelines of the AchroPuce Network for the Interpretation and Reporting of Constitutional Copy Number Variants.

Journal: Clinical genetics

Published: May 28, 2025

The First Fetal Case of Shwachman-Diamond Syndrome Mimicking Vascular Growth Restriction.

The First Fetal Case of Shwachman-Diamond Syndrome Mimicking Vascular Growth Restriction.

Journal: Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society

Published: August 31, 2024

Fetal Presentation of MYRF-Related Cardiac Urogenital Syndrome: An Emerging and Challenging Prenatal Diagnosis.

Fetal Presentation of MYRF-Related Cardiac Urogenital Syndrome: An Emerging and Challenging Prenatal Diagnosis.

Journal: Prenatal diagnosis

Published: July 17, 2024

ARID2-related disorder: further delineation of the clinical phenotype of 27 novel individuals and description of an epigenetic signature.

ARID2-related disorder: further delineation of the clinical phenotype of 27 novel individuals and description of an epigenetic signature.

Journal: European journal of human genetics : EJHG

Published: July 11, 2024

Correction: Expansion of the neurodevelopmental phenotype of individuals with EEF1A2 variants and genotype-phenotype study.

Correction: Expansion of the neurodevelopmental phenotype of individuals with EEF1A2 variants and genotype-phenotype study.

Journal: European journal of human genetics : EJHG

Published: April 02, 2024

Gnathodiaphyseal dysplasia: Diagnostic clues from two fetal cases and literature review.

Gnathodiaphyseal dysplasia: Diagnostic clues from two fetal cases and literature review.

Journal: Prenatal diagnosis

Published: February 05, 2024

Optical genome mapping identifies a homozygous deletion in the non-coding region of the SCN9A gene in individuals from the same family with congenital insensitivity to pain.

Optical genome mapping identifies a homozygous deletion in the non-coding region of the SCN9A gene in individuals from the same family with congenital insensitivity to pain.

Journal: Frontiers in genetics

Published: February 01, 2024

Rare germline variants in POLE and POLD1 encoding the catalytic subunits of DNA polymerases ε and δ in glioma families.

Rare germline variants in POLE and POLD1 encoding the catalytic subunits of DNA polymerases ε and δ in glioma families.

Journal: Acta neuropathologica communications

Published: August 23, 2023

Expansion of the neurodevelopmental phenotype of individuals with EEF1A2 variants and genotype-phenotype study.

Expansion of the neurodevelopmental phenotype of individuals with EEF1A2 variants and genotype-phenotype study.

Journal: European journal of human genetics : EJHG

Published: June 16, 2023

Noninvasive Prenatal Screening for Trisomy 21 in Patients with a Vanishing Twin.

Noninvasive Prenatal Screening for Trisomy 21 in Patients with a Vanishing Twin.

Journal: Genes

Published: September 24, 2022

Case Report: How whole-genome sequencing-based cell-free DNA prenatal testing can help identify a marker mhromosome.

Case Report: How whole-genome sequencing-based cell-free DNA prenatal testing can help identify a marker mhromosome.

Journal: Frontiers in genetics

Published: April 22, 2022

A second look at exome sequencing data: detecting mobile elements insertion in a rare disease cohort.

A second look at exome sequencing data: detecting mobile elements insertion in a rare disease cohort.

Journal: European journal of human genetics : EJHG

Published: December 14, 2021

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Last Updated: 09/26/2026