E. Denayer

发表

Genetics and Pathway in Neurofibromatosis Type 1

E. Legius, E. Denayer, H. Brems, 2020 .

Tumor spectrum in children with Noonan syndrome and SOS1 or RAF1 mutations

T. de Ravel, K. Devriendt, R. Sciot, 2009, Genes, chromosomes & cancer.

Noonan syndrome and systemic lupus erythematosus in a patient with a novel KRAS mutation.

E. Denayer, P. Makrythanasis, H. Fryssira, 2010, Clinical and experimental rheumatology.

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

Michael F. Wangler, E. Zackai, David T. Miller, 2018, Genetics in Medicine.

Legius Syndrome, Other Café-au-lait Diseases and Differential Diagnosis of NF1

E. Legius, E. Denayer, H. Brems, 2020 .

NRAS Mutations in Noonan Syndrome

H. Peeters, J. Fryns, E. Legius, 2012, Molecular Syndromology.

What’s new in the neuro-cardio-facial-cutaneous syndromes?

E. Legius, E. Denayer, 2007, European Journal of Pediatrics.

Cancer Surveillance in Healthy Carriers of Germline Pathogenic Variants in BRCA1/2: A Review of Secondary Prevention Guidelines

D. Timmerman, P. Neven, H. Wildiers, 2020, Journal of oncology.

Pathogenesis of vestibular schwannoma in ring chromosome 22

R. Sciot, P. de Cock, M. Debiec‐Rychter, 2009, BMC Medical Genetics.

Multiple orbital neurofibromas, painful peripheral nerve tumors, distinctive face and marfanoid habitus: a new syndrome

B. Scheithauer, A. Stemmer-Rachamimov, R. Sciot, 2012, European Journal of Human Genetics.

The cardiofaciocutaneous syndrome: prenatal findings in two patients

J. Fryns, E. Legius, E. Denayer, 2008, Prenatal diagnosis.

Clinical and mutational spectrum of neurofibromatosis type 1-like syndrome.

E. Zackai, B. Korf, V. Narayanan, 2009, JAMA.

Observations on intelligence and behavior in 15 patients with Legius syndrome

A. Thurm, J. Fryns, E. Legius, 2011, American journal of medical genetics. Part C, Seminars in medical genetics.

Nevus anemicus and RASopathies

E. Legius, E. Denayer, H. Brems, 2018, JAAD case reports.

Legius Syndrome and its Relationship with Neurofibromatosis Type 1

E. Legius, E. Denayer, 2020, Acta dermato-venereologica.

Keratinocytic epidermal nevi associated with localized fibro‐osseous lesions without hypophosphatemia

V. Kinsler, E. Legius, E. Denayer, 2020, Pediatric dermatology.

Germline loss-of-function mutations in SPRED1 cause a neurofibromatosis 1–like phenotype

G. Thomas, P. Marynen, A. Yoshimura, 2007, Nature Genetics.

Two siblings with Heimler syndrome caused by PEX1 variants: follow-up of ophthalmologic findings

I. Casteels, E. Denayer, P. Witters, 2021, Ophthalmic genetics.

Clinical and molecular aspects of RAS related disorders

T. de Ravel, E. Legius, E. Denayer, 2008, Journal of Medical Genetics.

Mutation analysis in Costello syndrome: functional and structural characterization of the HRAS p.Lys117Arg mutation

Eric Legius, Jan Cools, Kevin Shannon, 2008, Human mutation.

Cardiofaciocutaneous (CFC) Syndrome

E. Legius, E. Denayer, 2011 .

Spred1 Is Required for Synaptic Plasticity and Hippocampus-Dependent Learning

Nils Z. Borgesius, Eric Legius, Rudi D'Hooge, 2008, The Journal of Neuroscience.

Legius Syndrome in Fourteen Families

A. V. D. van den Ouweland, A. Yoshimura, Eline Beert, 2011, Human mutation.

Genome-wide haplotyping embryos developing from 0PN and 1PN zygotes increases transferrable embryos in PGT-M

T. de Ravel, J. Vermeesch, E. Legius, 2018, Human reproduction.

Haplotyping-based preimplantation genetic testing reveals parent-of-origin specific mechanisms of aneuploidy formation

J. Vermeesch, E. Denayer, A. Salumets, 2021, NPJ genomic medicine.

Haplotyping-based preimplantation genetic testing reveals parent-of-origin specific mechanisms of aneuploidy formation

J. Vermeesch, E. Denayer, A. Salumets, 2021, npj Genomic Medicine.

Investigation of gene dosage imbalances in patients with Noonan syndrome using multiplex ligation-dependent probe amplification analysis.

E. Legius, E. Denayer, S. Ekvall, 2010, European journal of medical genetics.

Next-generation sequencing in prenatal setting: Some examples of unexpected variant association.

T. de Ravel, K. Devriendt, L. Lewi, 2020, European journal of medical genetics.

Neurofibromatosis Type 1-Noonan Syndrome: What’s the Link?

E. Legius, E. Denayer, 2009 .

Agnathia-otocephaly complex: a case report and a literature review on recurrence risk

E. Denayer, S. Fransis, M. Van Hoestenberghe, 2020 .

Preclinical workup using long-read amplicon sequencing provides families with de novo pathogenic variants access to universal preimplantation genetic testing.

J. Vermeesch, E. Legius, E. Denayer, 2023, Human reproduction.

Identity-by-state-based haplotyping expands the application of comprehensive preimplantation genetic testing.

J. Vermeesch, T. Voet, E. Denayer, 2020, Human reproduction.

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

Michael F. Wangler, David T. Miller, B. Korf, 2018, Genetics in Medicine.

Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotypeâ€“phenotype correlation

Michael F. Wangler, David T. Miller, B. Korf, 2019 .

Abstract P6-08-03: Germline mutational landscape in 5422 individuals at risk for hereditary breast and ovarian cancer who underwent multi-gene panel testing

H. Peeters, P. Neven, C. Desmedt, 2020 .