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Laurence Desmyter

Observed names: Desmyter, Laurence, L. Desmyter
ORCID: 0000-0002-4531-4420
Observed ORCID: 0000-0002-4531-4420
OpenAlex ID: A5090132302
FAF1, a Gene that Is Disrupted in Cleft Palate and Has Conserved Function in Zebrafish
2011 · Michella Ghassibe-Sabbagh, Laurence Desmyter, et al. · The American Journal of Human Genetics · 60
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IRF6 Screening of Syndromic and a priori Non-Syndromic Cleft Lip and Palate Patients: Identification of a New Type of Minor VWS Sign
2010 · L. Desmyter, M. Ghassibe, et al. · Molecular Syndromology · 29
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Digenic inheritance of human primary microcephaly delineates centrosomal and non‐centrosomal pathways
2019 · Sarah Duerinckx, Valérie Jacquemin, et al. · Human Mutation · 25
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Cerebellar ataxia, neuropathy, hearing loss, and intellectual disability due to AIFM1 mutation
2020 · Massimo Pandolfo, Myriam Rai, et al. · Neurology Genetics · 17
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POT1 tumour predisposition: a broader spectrum of associated malignancies and proposal for additional screening program
2024 · Marta Baptista Freitas, Laurence Desmyter, et al. · European Journal of Human Genetics · 15
Phenotypes in siblings with homozygous mutations of TRAPPC 9 and/or MCPH 1 support a bifunctional model of MCPH 1
2018 · Sarah Duerinckx, Marije Meuwissen, et al. · Molecular Genetics & Genomic Medicine · 15
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Comprehensive evaluation of the implementation of episignatures for diagnosis of neurodevelopmental disorders (NDDs)
2023 · Edoardo Giuili, Robin Grolaux, et al. · Human Genetics · 12
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Severe congenital microcephaly with AP4M1 mutation, a case report
2017 · Sarah Duerinckx, Helene Verhelst, et al. · BMC Medical Genetics · 11
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Diagnostic yield of clinical exome sequencing in 868 children with neurodevelopmental disorders
2025 · Sebastian Neuens, Julie Soblet, et al. · European Journal of Medical Genetics · 10
Ehlers‐Danlos /myopathy overlap syndrome caused by a large de novo deletion in COL12A1
2022 · Sandra Coppens, Laurence Desmyter, et al. · American Journal of Medical Genetics Part A · 9
Prevalence and clinical impact of tumor BRCA1 and BRCA2 mutations in patients presenting with localized or metastatic hormone-sensitive prostate cancer
2021 · Nieves Martinez Chanza, Brandon Bernard, et al. · Prostate Cancer and Prostatic Diseases · 9
G2019S Mutation of Leucine-Rich Repeat Kinase 2 Is a Cause of Lewy Body Dementia in Patients With North African Ancestors
2024 · Kurt Segers, Florence Benoit, et al. · Alzheimer Disease & Associated Disorders · 3
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SPG43 and ALS-like syndrome in the same family due to compound heterozygous mutations of the C19orf12 gene: a case description and brief review
2021 · Gauthier Remiche, Isabelle Vandernoot, et al. · Neurogenetics · 3
Early-Onset Autosomal Dominant Myopathy with Vacuolated Fibers and Tubular Aggregates but No Periodic Paralysis, in a Patient with the c.1583G>A (p.R528H) mutation in the CACNA1S Gene
2024 · Michela Bisciglia, Hazim Kadhim, et al. · Journal of Neuromuscular Diseases · 2
Corpus callosum thinning in autosomal dominant hereditary spastic paraplegia associated with a novel TUBβ4A mutation
2020 · Marta Lamartine S. Monteiro, Isabelle Vandernoot, et al. · Clinical Genetics · 2
Prevalence and clinical impact of BRCA1/2 mutations in patients with de novo metastatic hormone-sensitive prostate cancer (mHSPC).
2020 · Nieves Martinez Chanza, Marie Tkint De Roodenbeke, et al. · Journal of Clinical Oncology · 2
IRF6 Screening of Syndromic and a priori Non-Syndromic Cleft Lip and Palate Patients: Identification of a New Type of Minor VWS Sign
2012 · Laurence Desmyter, Michella Ghassibe‐Sabbagh, et al. · EUR Research Repository (Erasmus University Rotterdam) · 2
1.19P When rarity deceives: three genetic disorders masquerading as myopathy — diagnostic pitfalls from a neuromuscular clinic
2026 · Gauthier Remiche, Laurence Desmyter, et al. · Neuromuscular Disorders
352PType 6 autosomal dominant progressive external ophthalmoplegia associated with a probable novel pathogenic DNA2 gene variant
2025 · G. Remiche, S. Lecomte, et al. · Neuromuscular Disorders
Erratum: The G2019S Mutation of Leucine-Rich Repeat Kinase 2 is a Cause of Lewy Body Dementia in Patients with North African Ancestors
2025 · Kurt Segers, Florence Benoit, et al. · Alzheimer Disease & Associated Disorders
P.158 Is there a myopathic component in Urofacial (Ochoa) syndrome?
2022 · G. Remiche, L. Desmyter, et al. · Neuromuscular Disorders
Channelopathies and Related Disorders
2021 · M. Bisciglia, H. Kadhim, et al. · Neuromuscular Disorders
Unusual phenotypical findings in two unrelated Belgian patients with Charcot-Marie-Tooth disease, dominant intermediate E (CMT-DIE) (4250)
2021 · Gauthier Remiche, Joëlle Nortier, et al. · Neurology
Myasthenia & Related Disorders
2020 · G. Remiche, L. Desmyter, et al. · Neuromuscular Disorders
Author response for "Corpus callosum thinning in autosomal dominant hereditary spastic paraplegia associated with a novel TUBβ4A mutation"
2020 · Marta Lamartine S. Monteiro, Isabelle Vandernoot, et al.
Works count: 31
Citation count: 226
H-index: 9
I10-index: 9
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