Publications by authors named "Anne Destree"

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AUTS2-related syndrome: Insights from a large European cohort.
Lorenzo Loberti, Loredaria Adamo, Enrica Antolini, Giulia Casamassima, Anne Destrèe

Genet Med· June 2025

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Aarskog-Scott syndrome: a clinical study based on a large series of 111 male patients with a pathogenic variant in and management recommendations.
Médéric Jeanne, Nathalie Ronce, Solène Remizé, Stéphanie Arpin, Geneviève Baujat, Anne Destree

J Med Genet· March 2025

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Episignature analysis of moderate effects and mosaics.
Konrad Oexle, Michael Zech, Lara G Stühn, Sandy Siegert, Theresa Brunet

Eur J Hum Genet· September 2023

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Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications.
Katrine M Johannesen, Yuanyuan Liu, Mahmoud Koko, Cathrine E Gjerulfsen, Lukas Sonnenberg

Brain· September 2022

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Adult phenotype of encephalopathy.
Stephanie Boets, Katrine M Johannesen, Anne Destree, Filippo Manti, Georgia Ramantani

J Med Genet· June 2022

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ASC1 complex related conditions: Two novel paediatric patients with TRIP4 pathogenic variants and review of literature.
Alexis Dembour, Anne Destrée, Marie Deprez, Hazim Kadhim, Deniz Karadurmus

Eur J Med Genet· April 2022

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Phenotypes and genotypes in non-consanguineous and consanguineous primary microcephaly: High incidence of epilepsy.
Sarah Duerinckx, Julie Désir, Camille Perazzolo, Cindy Badoer, Valérie Jacquemin, Anne Destree

Mol Genet Genomic Med· September 2021

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Prenatally detected copy number variants in a national cohort: A postnatal follow-up study.
Joke Muys, Yves Jacquemyn, Bettina Blaumeiser, Laura Bourlard, Nathalie Brison

Prenat Diagn· September 2020

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Novel defects in collagen XII and VI expand the mixed myopathy/Ehlers-Danlos syndrome spectrum and lead to variant-specific alterations in the extracellular matrix.
Sarah Delbaere, Tibbe Dhooge, Delfien Syx, Florence Petit, Nathalie Goemans

Genet Med· January 2020

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A clinical scoring system for congenital contractural arachnodactyly.
Ilse Meerschaut, Shana De Coninck, Wouter Steyaert, Angela Barnicoat, Allan Bayat

Genet Med· January 2020

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The majority of autosomal recessive nanophthalmos and posterior microphthalmia can be attributed to biallelic sequence and structural variants in MFRP and PRSS56.
Basamat Almoallem, Gavin Arno, Julie De Zaeytijd, Hannah Verdin, Irina Balikova

Sci Rep· January 2020

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Correction: The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome.
Pleuntje J van der Sluijs, Sandra Jansen, Samantha A Vergano, Miho Adachi-Fukuda, Yasemin Alanay, Anne Destree

Genet Med· September 2019

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The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome.
Pleuntje J van der Sluijs, Sandra Jansen, Samantha A Vergano, Miho Adachi-Fukuda, Yasemin Alanay, Anne Destree

Genet Med· June 2019

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The Belgian MicroArray Prenatal (BEMAPRE) database: A systematic nationwide repository of fetal genomic aberrations.
Joke Muys, Bettina Blaumeiser, Yves Jacquemyn, Claude Bandelier, Nathalie Brison

Prenat Diagn· December 2018

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Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844-848.
Magdalena Koczkowska, Yunjia Chen, Tom Callens, Alicia Gomes, Angela Sharp

Am J Hum Genet· January 2018

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Overlapping SETBP1 gain-of-function mutations in Schinzel-Giedion syndrome and hematologic malignancies.
Rocio Acuna-Hidalgo, Pelagia Deriziotis, Marloes Steehouwer, Christian Gilissen, Sarah A Graham, Anne Destree

PLoS Genet· March 2017

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Expanding phenotype of p.Ala140Val mutation in MECP2 in a 4 generation family with X-linked intellectual disability and spasticity.
Sophie Lambert, Isabelle Maystadt, Sébastien Boulanger, Pascal Vrielynck, Anne Destrée

Eur J Med Genet· October 2016

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STXBP1 encephalopathy: A neurodevelopmental disorder including epilepsy.
Hannah Stamberger, Marina Nikanorova, Marjolein H Willemsen, Patrizia Accorsi, Marco Angriman

Neurology· March 2016

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High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype-Phenotype Correlation.
Kitiwan Rojnueangnit, Jing Xie, Alicia Gomes, Angela Sharp, Tom Callens, Anne Destree

Hum Mutat· November 2015

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Further delineation of the KAT6B molecular and phenotypic spectrum.
Tamsin Gannon, Rahat Perveen, Hélene Schlecht, Simon Ramsden, Beverley Anderson

Eur J Hum Genet· September 2015

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The SMAD-binding domain of SKI: a hotspot for de novo mutations causing Shprintzen-Goldberg syndrome.
Dorien Schepers, Alexander J Doyle, Gretchen Oswald, Elizabeth Sparks, Loretha Myers

Eur J Hum Genet· February 2015

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Myhre and LAPS syndromes: clinical and molecular review of 32 patients.
Caroline Michot, Carine Le Goff, Clémentine Mahaut, Alexandra Afenjar, Alice S Brooks, Anne Destree

Eur J Hum Genet· November 2014

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Implementation of genomic arrays in prenatal diagnosis: the Belgian approach to meet the challenges.
Olivier Vanakker, Catheline Vilain, Katrien Janssens, Nathalie Van der Aa, Guillaume Smits, Anne Destree

Eur J Med Genet· March 2014

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The phenotype of Floating-Harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP.
Sarah M Nikkel, Andrew Dauber, Sonja de Munnik, Meghan Connolly, Rebecca L Hood

Orphanet J Rare Dis· April 2013

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Mutations in the TGF-β repressor SKI cause Shprintzen-Goldberg syndrome with aortic aneurysm.
Alexander J Doyle, Jefferson J Doyle, Seneca L Bessling, Samantha Maragh, Mark E Lindsay

Nat Genet· November 2012

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