Publications by authors named "Detlef Trost"

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French Guidelines of the AchroPuce Network for the Interpretation and Reporting of Constitutional Copy Number Variants.
Céline Pebrel-Richard, Paul Kuentz, Anne-Claude Tabet, Jean-Michel Dupont, Chantal Missirian, Detlef Trost

Clin Genet· January 2026

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ARID2-related disorder: further delineation of the clinical phenotype of 27 novel individuals and description of an epigenetic signature.
Clara Houdayer, Kathleen Rooney, Liselot van der Laan, Céline Bris, Mariëlle Alders, Detlef Trost

Eur J Hum Genet· November 2025

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Fetal Presentation of MYRF-Related Cardiac Urogenital Syndrome: An Emerging and Challenging Prenatal Diagnosis.
Maud Favier, Elise Brischoux-Boucher, Louise C Pyle, Nicolas Mottet, Marion Auber-Lenoir, Detlef Trost

Prenat Diagn· December 2024

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The First Fetal Case of Shwachman-Diamond Syndrome Mimicking Vascular Growth Restriction.
Nicoleta-Andreea Bobric, Julie Grevoul-Fesquet, Luc Rigonnot, Detlef Trost, Aïcha Boughalem

Pediatr Dev Pathol· November 2024

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Expansion of the neurodevelopmental phenotype of individuals with EEF1A2 variants and genotype-phenotype study.
Alix Paulet, Cavan Bennett-Ness, Faustine Ageorges, Detlef Trost, Andrew Green

Eur J Hum Genet· September 2024

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Correction: Expansion of the neurodevelopmental phenotype of individuals with EEF1A2 variants and genotype-phenotype study.
Alix Paulet, Cavan Bennett-Ness, Faustine Ageorges, Detlef Trost, Andrew Green

Eur J Hum Genet· September 2024

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Gnathodiaphyseal dysplasia: Diagnostic clues from two fetal cases and literature review.
Vivien Cuvelier, Detlef Trost, Morgane Stichelbout, Caroline Michot, Valérie Cormier-Daire

Prenat Diagn· August 2024

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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.
Aïcha Boughalem, Viorica Ciorna-Monferrato, Natacha Sloboda, Amélie Guegan, François Page, Detlef Trost

Front Genet· August 2024

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Rare germline variants in POLE and POLD1 encoding the catalytic subunits of DNA polymerases ε and δ in glioma families.
Christine A M Weber, Nicole Krönke, Valery Volk, Bernd Auber, Alisa Förster, Detlef Trost

Acta Neuropathol Commun· November 2023

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A second look at exome sequencing data: detecting mobile elements insertion in a rare disease cohort.
Philippine Garret, Martin Chevarin, Antonio Vitobello, Simon Verdez, Cyril Fournier, Detlef Trost

Eur J Hum Genet· July 2023

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Noninvasive Prenatal Screening for Trisomy 21 in Patients with a Vanishing Twin.
Pascale Kleinfinger, Armelle Luscan, Léa Descourvieres, Daniela Buzas, Aicha Boughalem, Detlef Trost

Genes (Basel)· November 2022

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Case Report: How whole-genome sequencing-based cell-free DNA prenatal testing can help identify a marker mhromosome.
Pascale Kleinfinger, Marie Brechard, Armelle Luscan, Detlef Trost, Aicha Boughalem

Front Genet· September 2022

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Genome Alert!: A standardized procedure for genomic variant reinterpretation and automated gene-phenotype reassessment in clinical routine.
Kevin Yauy, François Lecoquierre, Stéphanie Baert-Desurmont, Detlef Trost, Aicha Boughalem

Genet Med· June 2022

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Pathogenic variants in KCNQ2 cause intellectual deficiency without epilepsy: Broadening the phenotypic spectrum of a potassium channelopathy.
Laura Mary, Elsa Nourisson, Claire Feger, Vincent Laugel, Denys Chaigne, Detlef Trost

Am J Med Genet A· June 2021

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Strategy for Use of Genome-Wide Non-Invasive Prenatal Testing for Rare Autosomal Aneuploidies and Unbalanced Structural Chromosomal Anomalies.
Pascale Kleinfinger, Laurence Lohmann, Armelle Luscan, Detlef Trost, Laurent Bidat

J Clin Med· August 2020

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Report of the first patient with a homozygous OTUD7A variant responsible for epileptic encephalopathy and related proteasome dysfunction.
Philippine Garret, Frédéric Ebstein, Geoffroy Delplancq, Blandine Dozieres-Puyravel, Aïcha Boughalem, Detlef Trost

Clin Genet· April 2020

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Deciphering exome sequencing data: Bringing mitochondrial DNA variants to light.
Philippine Garret, Céline Bris, Vincent Procaccio, Patrizia Amati-Bonneau, Pierre Vabres, Detlef Trost

Hum Mutat· December 2019

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2.5 years' experience of GeneMatcher data-sharing: a powerful tool for identifying new genes responsible for rare diseases.
Ange-Line Bruel, Antonio Vitobello, Frédéric Tran Mau-Them, Sophie Nambot, Yannis Duffourd, Detlef Trost

Genet Med· July 2019

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Molecular Characterization of a Familial 13.6-Mb 20p11.1p12.1 Duplication without Clinical Consequence.
Julie Masson, Massimiliano Rossi, Audrey Labalme, Marianne Till, Detlef Trost

Cytogenet Genome Res· May 2019

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Constitutional chromoanasynthesis: description of a rare chromosomal event in a patient.
Julie Plaisancié, Pascale Kleinfinger, Claude Cances, Anne Bazin, Sophie Julia, Detlef Trost

Eur J Med Genet· October 2014

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KIAA1797/FOCAD encodes a novel focal adhesion protein with tumour suppressor function in gliomas.
Antje Brockschmidt, Detlef Trost, Heike Peterziel, Katrin Zimmermann, Marion Ehrler

Brain· April 2012

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Array-CGH in unclear syndromic nephropathies identifies a microdeletion in Xq22.3-q23.
Alexander Hoischen, Christina Landwehr, Sarah Kabisch, Xiao-Qi Ding, Detlef Trost

Pediatr Nephrol· September 2009

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Identification of genomic aberrations associated with shorter overall survival in patients with oligodendroglial tumors.
Detlef Trost, Marion Ehrler, Rolf Fimmers, Jörg Felsberg, Michael C Sabel

Int J Cancer· June 2007

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Towards mapping phenotypical traits in 18p- syndrome by array-based comparative genomic hybridisation and fluorescent in situ hybridisation.
Christian H Brenk, Eva-Christina Prott, Detlef Trost, Alexander Hoischen, Constanze Walldorf

Eur J Hum Genet· January 2007

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Delineation by molecular cytogenetics of 5q deletion breakpoints in myelodyplastic syndromes and acute myeloid leukemia.
Brigitte Royer-Pokora, Detlef Trost, Nicola Müller, Barbara Hildebrandt, Ulrich Germing

Cancer Genet Cytogenet· May 2006

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