Publications by authors named "Ellen Denayer"

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ACTH-secreting atypical carcinoid lung tumour expanding the Lynch syndrome spectrum.
Kevin Van Compernolle, Jacques Van Huysse, Kathleen B M Claes, Ellen Denayer, Marie Bex

J Med Genet· November 2025

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Reply to Taal et al. Comment on "Iasella et al. Close Follow-Up of Patients with Neurofibromatosis Type 1 Reduces the Incidence of Malignant Peripheral Nerve Sheath Tumour. 2025, , 1306".
Maria Pia Iasella, Dries Ruttens, Daphne Hompes, Vincent Vandecaveye, Raf Sciot, Ellen Denayer

Cancers (Basel)· October 2025

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Close Follow-Up of Patients with Neurofibromatosis Type 1 Reduces the Incidence of Malignant Peripheral Nerve Sheath Tumour.
Maria Pia Iasella, Dries Ruttens, Daphne Hompes, Vincent Vandecaveye, Raf Sciot, Ellen Denayer

Cancers (Basel)· April 2025

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Preimplantation genetic testing for hereditary angioedema as a potential dominant cost-effective intervention.
Willem Roosens, Lore Lannoo, Ellen Denayer, Liesbeth Gilissen, Karen Peeraer

J Allergy Clin Immunol Pract· March 2025

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Preclinical workup using long-read amplicon sequencing provides families with de novo pathogenic variants access to universal preimplantation genetic testing.
Olga Tsuiko, Yasmine El Ayeb, Tatjana Jatsenko, Joke Allemeersch, Cindy Melotte, Ellen Denayer

Hum Reprod· March 2023

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Haplotyping-based preimplantation genetic testing reveals parent-of-origin specific mechanisms of aneuploidy formation.
Olga Tšuiko, Michiel Vanneste, Cindy Melotte, Jia Ding, Sophie Debrock, Ellen Denayer

NPJ Genom Med· October 2021

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Two siblings with Heimler syndrome caused by PEX1 variants: follow-up of ophthalmologic findings.
Dorien Herijgers, Ellen Denayer, Irina Balikova, Peter Witters, Julie Jacob

Ophthalmic Genet· August 2021

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Keratinocytic epidermal nevi associated with localized fibro-osseous lesions without hypophosphatemia.
Lien Mestach, Satyamaanasa Polubothu, Alistair Calder, Ellen Denayer, Karolina Gholam

Pediatr Dermatol· September 2020

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Cancer Surveillance in Healthy Carriers of Germline Pathogenic Variants in : A Review of Secondary Prevention Guidelines.
Boudewijn Dullens, Robin de Putter, Matteo Lambertini, Angela Toss, Sileny Han, Ellen Denayer

J Oncol· June 2020

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Next-generation sequencing in prenatal setting: Some examples of unexpected variant association.
Berardo Rinaldi, Valerie Race, Anniek Corveleyn, Evelien Van Hoof, Marijke Bauters, Ellen Denayer

Eur J Med Genet· May 2020

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Legius Syndrome and its Relationship with Neurofibromatosis Type 1.
Ellen Denayer, Eric Legius

Acta Derm Venereol· March 2020

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Identity-by-state-based haplotyping expands the application of comprehensive preimplantation genetic testing.
Jia Ding, Eftychia Dimitriadou, Olga Tšuiko, Aspasia Destouni, Cindy Melotte, Ellen Denayer

Hum Reprod· March 2020

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Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype-phenotype correlation.
Magdalena Koczkowska, Tom Callens, Alicia Gomes, Angela Sharp, Yunjia Chen, Ellen Denayer

Genet Med· April 2019

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Correction: Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype-phenotype correlation.
Magdalena Koczkowska, Tom Callens, Alicia Gomes, Angela Sharp, Yunjia Chen, Ellen Denayer

Genet Med· March 2019

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Genome-wide haplotyping embryos developing from 0PN and 1PN zygotes increases transferrable embryos in PGT-M.
Aspasia Destouni, Eftychia Dimitriadou, Heleen Masset, Sophie Debrock, Cindy Melotte, Ellen Denayer

Hum Reprod· December 2018

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Nevus anemicus and RASopathies.
Charlotte Bulteel, Marie-Anne Morren, Petra De Haes, Ellen Denayer, Eric Legius

JAAD Case Rep· May 2018

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Multiple orbital neurofibromas, painful peripheral nerve tumors, distinctive face and marfanoid habitus: a new syndrome.
D Babovic-Vuksanovic, Ludwine Messiaen, Christoph Nagel, Hilde Brems, Bernd Scheithauer, Ellen Denayer

Eur J Hum Genet· June 2012

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Observations on intelligence and behavior in 15 patients with Legius syndrome.
Ellen Denayer, Mie-Jef Descheemaeker, Douglas R Stewart, Kathelijn Keymolen, Ellen Plasschaert

Am J Med Genet C Semin Med Genet· May 2011

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Legius syndrome in fourteen families.
Ellen Denayer, Magdalena Chmara, Hilde Brems, Anneke Maat Kievit, Yolande van Bever

Hum Mutat· January 2011

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Investigation of gene dosage imbalances in patients with Noonan syndrome using multiplex ligation-dependent probe amplification analysis.
Anna-Maja Nyström, Sara Ekvall, Ann-Charlotte Thuresson, Ellen Denayer, Eric Legius

Eur J Med Genet· October 2010

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Tumor spectrum in children with Noonan syndrome and SOS1 or RAF1 mutations.
Ellen Denayer, Koen Devriendt, Thomy de Ravel, Griet Van Buggenhout, Eric Smeets

Genes Chromosomes Cancer· March 2010

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Clinical and mutational spectrum of neurofibromatosis type 1-like syndrome.
Ludwine Messiaen, Suxia Yao, Hilde Brems, Tom Callens, Achara Sathienkijkanchai, Ellen Denayer

JAMA· November 2009

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Pathogenesis of vestibular schwannoma in ring chromosome 22.
Ellen Denayer, Hilde Brems, Paul de Cock, Gareth D Evans, Frank Van Calenbergh

BMC Med Genet· September 2009

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Spred1 is required for synaptic plasticity and hippocampus-dependent learning.
Ellen Denayer, Tariq Ahmed, Hilde Brems, Geeske Van Woerden, Nils Zuiderveen Borgesius

J Neurosci· December 2008

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Mutation analysis in Costello syndrome: functional and structural characterization of the HRAS p.Lys117Arg mutation.
Ellen Denayer, Annabel Parret, Magdalena Chmara, Suzanne Schubbert, Annick Vogels

Hum Mutat· February 2008

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