Selected Publications

Academic Article

Year Title Altmetric
2022 Updated diagnostic criteria and nomenclature for neurofibromatosis type 2 and schwannomatosis: An international consensus recommendationGenetics in Medicine.  24:1967-1977. 2022
2022 Targeted exon skipping of NF1 exon 17 as a therapeutic for neurofibromatosis type I 2022
2022 Re-evaluation of missense variant classifications in NF2Human Mutation.  43:643-654. 2022
2022 Natural history of NF1 c.2970_2972del p.(Met992del): confirmation of a low risk of complications in a longitudinal studyEuropean Journal of Human Genetics.  30:291-297. 2022
2022 Targeted massively parallel sequencing of candidate regions on chromosome 22q predisposing to multiple schwannomas: An analysis of 51 individuals in a single-center experienceHuman Mutation.  43:74-84. 2022
2021 Typical 22q11.2 deletion syndrome appears to confer a reduced risk of schwannomaGenetics in Medicine.  23:1779-1782. 2021
2021 Revised diagnostic criteria for neurofibromatosis type 1 and Legius syndrome: an international consensus recommendationGenetics in Medicine.  23:1506-1513. 2021
2020 Constitutional mismatch repair deficiency is the diagnosis in 0.41% of pathogenic NF1/SPRED1 variant negative children suspected of sporadic neurofibromatosis type 1Genetics in Medicine.  22:2081-2088. 2020
2020 AG-exclusion zone revisited: Lessons to learn from 91 intronic NF1 3′ splice site mutations outside the canonical AG-dinucleotidesHuman Mutation.  41:1145-1156. 2020
2020 Quantification of splice variants using real-time PCRNucleic Acids Research.  29. 2020
2019 Child Neurology: Spastic paraparesis and dystonia with a novel ADCY5 mutationNeurology.  93:510-514. 2019
2019 First International Conference on RASopathies and Neurofibromatoses in Asia: Identification and advances of new therapeuticsAmerican Journal of Medical Genetics Part A.  179:1091-1097. 2019
2019 From process to progress—2017 International Conference on Neurofibromatosis 1, Neurofibromatosis 2 and SchwannomatosisAmerican Journal of Medical Genetics Part A.  179:1098-1106. 2019
2019 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 correlationGenetics in Medicine.  21:867-876. 2019
2019 Correction to: 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 (Genetics in Medicine, (2018), 10.1038/s41436-018-0269-0)Genetics in Medicine.  21:764-765. 2019
2019 Constitutional mismatch repair deficiency as a differential diagnosis of neurofibromatosis type 1: Consensus guidelines for testing a child without malignancyJournal of Medical Genetics.  56:53-62. 2019
2019 Ultra-deep amplicon sequencing indicates absence of low-grade mosaicism with normal cells in patients with type-1 NF1 deletionsHuman Genetics.  138:73-81. 2019
2018 Mutations in LZTR1 drive human disease by dysregulating RAS ubiquitinationScience.  362:1177-1182. 2018
2018 Genetically engineered minipigs model the major clinical features of human neurofibromatosis type 1Communications Biology.  1. 2018
2018 Germline and somatic NF1 alterations are linked to increased HER2 expression in breast cancerCancer Prevention Research.  11:655-663. 2018
2018 Extreme clustering of type-1 NF1 deletion breakpoints co-locating with G-quadruplex forming sequencesHuman Genetics.  137:511-520. 2018
2018 High-Throughput Tabular Data Processor – Platform independent graphical tool for processing large data setsPLoS One.  13. 2018
2018 Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844–848American Journal of Human Genetics.  102:69-87. 2018
2018 Breast cancer risk and germline genomic profiling of women with neurofibromatosis type 1 who developed breast cancer 2018
2018 Unilateral vestibular schwannoma and meningiomas in a patient with PIK3CA-related segmental overgrowth: Co-occurrence of mosaicism for 2 rare disorders 2018
2017 Constitutional LZTR1 mutation presenting with a unilateral vestibular schwannoma in a teenager 2017
2017 Alternative outcomes of pathogenic complex somatic structural variations in the genomes of NF1 and NF2 patientsNeurogenetics.  18:169-174. 2017
2017 panelcn.MOPS: Copy-number detection in targeted NGS panel data for clinical diagnosticsHuman Mutation.  38:889-897. 2017
2017 Predicting neurofibromatosis type 1 risk among children with isolated café-au-lait maculesJournal of the American Academy of Dermatology.  76:1077-1083.e3. 2017
2017 Connections between constitutional mismatch repair deficiency syndrome and neurofibromatosis type 1 2017
2017 Mosaicism for a SPRED1 deletion revealed in a patient with clinically suspected mosaic neurofibromatosisBritish Journal of Dermatology.  176:1077-1078. 2017
2017 Analysis of copy number variants in 11 pairs of monozygotic twins with neurofibromatosis type 1American Journal of Medical Genetics Part A.  173:647-653. 2017
2016 Mice with missense and nonsense NF1 mutations display divergent phenotypes compared with human neurofibromatosis type IDisease Models and Mechanisms.  9:759-767. 2016
2016 Interaction between a domain of the negative regulator of the ras-ERK pathway, SPRED1 protein, and the GTPase-activating protein-related domain of neurofibromin is implicated in legius syndrome and neurofibromatosis type 1Journal of Biological Chemistry.  291:3124-3134. 2016
2016 Fine mapping of meiotic NAHR-associated crossovers causing large NF1 deletionsHuman Molecular Genetics.  25:484-496. 2016
2015 Report of a patient with a constitutional missense mutation in SMARCB1, Coffin-Siris phenotype, and schwannomatosisAmerican Journal of Medical Genetics Part A.  167:3186-3191. 2015
2015 Cafe-au-lait macules, axillary freckling and a variant of neurofibromatosis type 1 geneNederlands Tijdschrift voor Dermatologie en Venereologie.  25:542-544. 2015
2015 Concurrent DNA Copy-Number Alterations and Mutations in Genes Related to Maintenance of Genome Stability in Uninvolved Mammary Glandular Tissue from Breast Cancer PatientsHuman Mutation.  36:1088-1099. 2015
2015 High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype-Phenotype CorrelationHuman Mutation.  36:1052-1063. 2015
2015 Hypomagnesemia due to two novel TRPM6 mutationsJournal of Pediatric Endocrinology and Metabolism.  28:1373-1378. 2015
2015 Paraspinal neurofibromas and hypertrophic neuropathy in Noonan syndrome with multiple lentiginesJournal of Medical Genetics.  53:123-126. 2015
2015 Decoding NF1 Intragenic Copy-Number VariationsAmerican Journal of Human Genetics.  97:238-249. 2015
2015 The third international meeting on genetic disorders in the RAS/MAPK pathway: Towards a therapeutic approachAmerican Journal of Medical Genetics Part A.  167:1741-1746. 2015
2015 Clinical implications of rabphillin-3A-like gene alterations in breast cancerPLoS One.  10. 2015
2015 Sex-discordant monochorionic twins with blood and tissue chimerismAmerican Journal of Medical Genetics Part A.  167:872-877. 2015
2015 Elucidating the impact of neurofibromatosis-1 germline mutations on neurofibromin function and dopamine-based learningHuman Molecular Genetics.  24:3518-3528. 2015
2014 Identification of Large NF1 duplications reciprocal to NAHR-Mediated Type-1 NF1 deletionsHuman Mutation.  35:1469-1475. 2014
2014 Update from the 2013 international neurofibromatosis conferenceAmerican Journal of Medical Genetics Part A.  164:2969-2978. 2014
2014 SVA retrotransposon insertion-associated deletion represents a novel mutational mechanism underlying large genomic copy number changes with non-recurrent breakpointsGenome Biology.  15. 2014
2014 Analysis of crossover breakpoints yields new insights into the nature of the gene conversion events associated with large NF1 deletions mediated by nonallelic homologous recombinationHuman Mutation.  35:215-226. 2014
2014 Germline loss-of-function mutations in LZTR1 predispose to an inherited disorder of multiple schwannomasNature Genetics.  46:182-187. 2014
2014 Jaffe-Campanacci syndrome, revisited: Detailed clinical and molecular analyses determine whether patients have neurofibromatosis type 1, coincidental manifestations, or a distinct disorderGenetics in Medicine.  16:448-459. 2014
2014 Palindrome-Mediated and Replication-Dependent Pathogenic Structural Rearrangements within the NF1 GeneHuman Mutation.  35:891-898. 2014
2013 Adrenal hypoplasia congenita with phenotypic features suggestive of neurofibromatosis type 1 among three African-American brothersAmerican Journal of Medical Genetics Part A.  161:2105-2107. 2013
2013 Mutation spectrum of NF1 and clinical characteristics in 78 Korean patients with neurofibromatosis Type 1Pediatric Neurology.  48:447-453. 2013
2013 Update from the 2011 International Schwannomatosis Workshop: From genetics to diagnostic criteriaAmerican Journal of Medical Genetics Part A.  161:405-416. 2013
2013 Paraspinal ganglioneuroma in the proband of a large family with mild cutaneous manifestations of NF1, carrying a deep NF1 intronic mutation 2013
2013 Elucidating distinct roles for NF1 in melanomagenesisCancer Discovery.  3:339-349. 2013
2012 Identification of recurrent type-2 NF1 microdeletions reveals a mitotic nonallelic homologous recombination hotspot underlying a human genomic disorderHuman Mutation.  33:1599-1609. 2012
2012 Review and update of SPRED1 mutations causing legius syndromeHuman Mutation.  33:1538-1546. 2012
2012 Improved multiplex ligation-dependent probe amplification analysis identifies a deleterious PMS2 allele generated by recombination with crossover between PMS2 and PMS2CL 2012
2012 Multiple orbital neurofibromas, painful peripheral nerve tumors, distinctive face and marfanoid habitus: A new syndromeEuropean Journal of Human Genetics.  20:618-625. 2012
2012 Multiple, diffuse schwannomas in a RASopathy phenotype patient with germline KRAS mutation: A causal relationship? 2012
2012 Café-au-lait macules and intertriginous freckling in piebaldism: Clinical overlap with neurofibromatosis type 1 and Legius syndromeAmerican Journal of Medical Genetics Part A.  158 A:1195-1199. 2012
2012 Neurofibromatosis 2011: A report of the Children's Tumor Foundation Annual MeetingActa Neuropathologica.  123:369-380. 2012
2012 Characterization of the nonallelic homologous recombination hotspot PRS3 associated with type-3 F1 deletionsHuman Mutation.  33:372-383. 2012
2012 Prognostic significance and gene expression profiles of p53 mutations in microsatellite-stable Stage III colorectal adenocarcinomasPLoS One.  7. 2012
2012 Gonosomal mosaicism for an NF1 deletion in a sperm donor: Evidence of the need for coordinated, long-term communication of health information among relevant partiesHuman Reproduction.  27:1223-1226. 2012
2011 The NF1 gene contains hotspots for L1 endonuclease-dependent De Novo insertionPLoS Genetics.  7. 2011
2011 Identification of SPRED1 deletions using RT-PCR, multiplex ligation-dependent probe amplification and quantitative PCRAmerican Journal of Medical Genetics Part A.  155:1352-1359. 2011
2011 Mosaic type-1 NF1 microdeletions as a cause of both generalized and segmental neurofibromatosis type-1 (NF1)Human Mutation.  32:213-219. 2011
2011 The development of cutaneous neurofibromasAmerican Journal of Pathology.  178:500-505. 2011
2010 Bax expression is a candidate prognostic and predictive marker of colorectal cancer.Journal of Gastrointestinal Oncology.  1:76-89. 2010
2010 Coexistence of neurofibromatosis type 1 and mosaic trisomy 8 in the same patientGenetic counseling (Geneva, Switzerland).  21:307-316. 2010
2010 Phenotypic variability among café-au-lait macules in neurofibromatosis type 1Journal of the American Academy of Dermatology.  63:440-447. 2010
2010 Identification of PKHD1 multiexon deletions using multiplex ligation-dependent probe amplification and quantitative polymerase chain reactionGenetic Testing and Molecular Biomarkers.  14:505-510. 2010
2010 Functional PMS2 hybrid alleles containing a pseudogene-specific missense variant trace back to a single ancient intrachromosomal recombination eventHuman Mutation.  31:552-560. 2010
2010 Error in a study of the clinical and mutational spectrum of neurofibromatosis type 1-like syndromeJournal of the American Medical Association.  303:2476-2477. 2010
2010 NF1 Is a Tumor Suppressor in Neuroblastoma that Determines Retinoic Acid Response and Disease OutcomeCell.  142:218-229. 2010
2010 Radiation-induced rhabdomyosarcoma of the brainstem in a patient with neurofibromatosis Type 2: Case reportJournal of Neurosurgery.  112:81-87. 2010
2009 Two sporadic spinal neurofibromatosis patients with malignant peripheral nerve sheath tumourEuropean Journal of Medical Genetics.  52:409-414. 2009
2009 Correction: Glomus tumors in neurofibromatosis type 1: Genetic, functional, and clinical evidence of a novel association (Cancer Research (2009) 69, (7393-7401))Cancer Research.  69:8216. 2009
2009 Glomus tumors in neurofibromatosis type 1: Genetic, functional, and clinical evidence of a novel associationCancer Research.  69:7393-7401. 2009
2009 Proteasomal and Genetic Inactivation of the NF1 Tumor Suppressor in GliomagenesisCancer Cell.  16:44-54. 2009
2009 Congenital pseudarthrosis of neurofibromatosis type 1: Impaired osteoblast differentiation and function and altered NF1 gene expressionBone.  44:243-250. 2009
2009 Clinical and mutational spectrum of neurofibromatosis type 1-like syndromeJournal of the American Medical Association.  302:2111-2118. 2009
2009 Planning the human variome project: The Spain reportHuman Mutation.  30:496-510. 2009
2008 NF1 mutational spectrumMonographs in human genetics.  16:63-77. 2008
2008 Molecular characterization of a patient with an interstitial 1q deletion [del(1)(q24.1q25.3)] and distinctive skeletal abnormalitiesAmerican Journal of Medical Genetics Part A.  146:2937-2943. 2008
2008 Combined retinal hamartomas leading to the diagnosis of neurofibromatosis type 2Ophthalmic Genetics.  29:133-138. 2008
2008 RNA-based mutation analysis identifies an unusual MSH6 splicing defect and circumvents PMS2 pseudogene interferenceHuman Mutation.  29:299-305. 2008
2008 Clinical significance of a novel single nucleotide polymorphism in the 5′ untranslated region of the Rabphillin-3A-Like gene in colorectal adenocarcinomaFrontiers in Bioscience-Landmark.  13:1050-1061. 2008
2008 Somatic mutation analysis in NF1 café au lait spots reveals two NF1 hits in the melanocytesJournal of Investigative Dermatology.  128:1050-1053. 2008
2007 Germline loss-of-function mutations in SPRED1 cause a neurofibromatosis 1-like phenotypeNature Genetics.  39:1120-1126. 2007
2007 Extensive in silico analysis of NF1 splicing defects uncovers determinants for splicing outcome upon 5′ splice-site disruptionHuman Mutation.  28:599-612. 2007
2007 An absence of cutaneous neurofibromas associated with a 3-bp inframe deletion in exon 17 of the NF1 gene (c.2970-2972 delAAT): Evidence of a clinically significant NF1 genotype-phenotype correlationAmerican Journal of Human Genetics.  80:140-151. 2007
2007 Is pulmonary arterial hypertension in neurofibromatosis type 1 secondary to a plexogenic arteriopathy?Chest.  132:798-808. 2007
2007 Mitotic recombination as evidence of alternative pathogenesis of gastrointestinal stromal tumours in neurofibromatosis type 1.Journal of Medical Genetics.  44. 2007
2007 Molecular dissection of isolated disease features in mosaic neurofibromatosis type 1American Journal of Human Genetics.  81:243-251. 2007
2006 Conservation of hotspots for recombination in low-copy repeats associated with the NF1 microdeletionNature Genetics.  38:1419-1423. 2006
2006 Real-time quantitative allele discrimination assay using 3′ locked nucleic acid primers for detection of low-percentage mosaic mutationsAnalytical Biochemistry.  359:144-146. 2006
2006 Comprehensive NF1 screening on cultured Schwann cells from neurofibromasHuman Mutation.  27:1030-1040. 2006
2006 Somatic loss of wild type NF1 allele in neurofibromas: Comparison of NF1 microdeletion and non-microdeletion patients 2006
2006 Complete trisomy 17p syndrome in a girl with der(14)t(14;17)(p11.2;p11.2)American Journal of Medical Genetics Part A.  140:1647-1654. 2006
2006 Café-au-lait spots in neurofibromatosis type 1 and in healthy control individuals: Hyperpigmentation of a different kind?Archives of Dermatological Research.  297:439-449. 2006
2006 Molecular pathogenesis of multiple gastrointestinal stromal tumors in NF1 patientsHuman Molecular Genetics.  15:1015-1023. 2006
2006 Neurofibromatosis type 1 protein and amyloid precursor protein interact in normal human melanocytes and colocalize with melanosomesJournal of Investigative Dermatology.  126:653-659. 2006
2006 Spectrum of single- and multiexon NF1 copy number changes in a cohort of 1,100 unselected NF1 patients 2006
2006 Neurofibromin binds to caveolin-1 and regulates ras, FAK, and AktBiochemical and Biophysical Research Communications.  340:1200-1208. 2006
2006 Double inactivation of NF1 in tibial pseudarthrosisAmerican Journal of Human Genetics.  79:143-148. 2006
2006 Identification of novel deletion breakpoints bordered by segmental duplications in the NF1 locus using high resolution array-CGHJournal of Medical Genetics.  43:28-38. 2006
2005 Neurofibromatosis-Noonan Syndrome: Molecular evidence of the concurrence of both disorders in a patientAmerican Journal of Medical Genetics Part A.  136 A:242-245. 2005
2005 Recent molecular insights in hereditary breast and ovarian cancer in BelgiumTijdschrift voor geneeskunde.  61:1053-1060. 2005
2005 Pitfalls of automated comparative sequence analysis as a single platform for routine clinical testing for NF1.Journal of Medical Genetics.  42. 2005
2005 An interstitial deletion of chromosome 7 at band q21: A case report and reviewAmerican Journal of Medical Genetics Part A.  134 A:12-23. 2005
2005 Comprehensive genomic analysis of PKHD1 mutations in ARPKD cohortsJournal of Medical Genetics.  42:336-349. 2005
2005 Pigment cell-related manifestations in neurofibromatosis type 1: An overviewPigment Cell and Melanoma Research.  18:13-24. 2005
2005 Deletions involving long-range conserved nongenic sequences upstream and downstream of FOXL2 as a novel disease-causing mechanism in blepharophimosis syndromeAmerican Journal of Human Genetics.  77:205-218. 2005
2005 Familial pericentric inversion of chromosome 18: Behavioral abnormalities in patients heterozygous for either the dup(18p)/del(18q) or dup(18q)/del(18p) recombinant chromosomeEuropean Journal of Human Genetics.  13:52-58. 2005
2004 Disruption of exonic splicing enhancer elements is the principal cause of exon skipping associated with seven nonsense or missense alleles of NF1Human Mutation.  24:491-501. 2004
2004 Multiple myofibromas and an epidermal verrucous nevus in a child with neurofibromatosis type 1 2004
2004 The human FOXL2 mutation databaseHuman Mutation.  24:189-193. 2004
2004 BRCA1 and BRCA2 germline mutation spectrum and frequencies in Belgian breast/ovarian cancer familiesBritish Journal of Cancer.  90:1244-1251. 2004
2004 Neurofibromin is actively transported to the nucleusFEBS Letters.  560:98-102. 2004
2004 A New Type of Autosomal Recessive Spondyloepiphyseal Dysplasia TardaAmerican Journal of Medical Genetics Part A.  125 A:49-56. 2004
2004 A new type of autosomal recessive spondyloepiphyseal dysplasia tarda.American Journal of Medical Genetics Part A.  125A:49-56. 2004
2004 Genetic and clinical mosaicism in a patient with neurofibromatosis type 1Human Genetics.  114:284-290. 2004
2004 Mutations of VMD2 splicing regulators cause nanophthalmos and autosomal dominant vitreoretinochoroidopathy (ADVIRC) 2004
2003 Differentiating pathogenic mutations from polymorphic alterations in the splice sites of BRCA1 and BRCA2 2003
2003 FOXL2 and BPES: Mutational hotspots, phenotypic variability, and revision of the genotype-phenotype correlationAmerican Journal of Human Genetics.  72:478-487. 2003
2003 Independent NF1 mutations in two large families with spinal neurofibromatosis [1]Journal of Medical Genetics.  40:122-126. 2003
2003 Evidence for involvement of a tumor suppressor gene on 1p in malignant peripheral nerve sheath tumorsCancer Genetics.  143:120-124. 2003
2003 Interphase FISH, the structure of reciprocal translocation chromosomes and physical mapping studies rule out the duplication of the NF1 gene at 17q11.2. A replyHuman Genetics.  113:188-190. 2003
2002 Chromosomal radiosensitivity in breast cancer patients with a known or putative genetic predispositionBritish Journal of Cancer.  87:1379-1385. 2002
2002 Evolution and expression of FOXL2 [1]Journal of Medical Genetics.  39:916-921. 2002
2002 Does monosymptomatic enuresis exist? A molecular genetic exploration of 32 families with enuresis/incontinenceBJU International.  90:76-83. 2002
2002 Quantification of NF1 transcripts reveals novel highly expressed splice variantsFEBS Letters.  522:71-76. 2002
2002 Complex splicing generates great diversity in human NFI transcriptsBMC Genomics.  3. 2002
2002 Kallmann syndrome in a patient with congenital spherocytosis and an interstitial 8p11.2 deletionAmerican Journal of Medical Genetics Part A.  108:315-318. 2002
2002 Aberrant splicing in several human tumors in the tumor suppressor genes neurofibromatosis type 1, neurofibromatosis type 2, and tuberous sclerosis 2Cancer Research.  62:1503-1509. 2002
2002 Strategies for prenatal and preimplantation genetic diagnosis in Marfan syndrome (MFS)Prenatal Diagnosis.  22:22-28. 2002
2002 A patient severely affected by spinal neurofibromas carries a recurrent splice site mutation in the NF1 geneEuropean Journal of Human Genetics.  10:334-338. 2002
2002 FOXL2 mutation screening in a large panel of POF patients and XX males.Journal of Medical Genetics.  39. 2002
2002 Pathological splice mutations outside the invariant AG/GT splice sites of BRCA1 exon 5 increase alternative transcript levels in the 5′ end of the BRCA1 geneOncogene.  21:4171-4175. 2002
2002 Strategies for prenatal and preimplantation genetic diagnosis in Marfan syndrome (MFS).Prenatal Diagnosis.  22:22-28. 2002
2001 Spectrum of FOXL2 gene mutations in blepharophimosis-ptosis-epicanthus inversus (BPES) families demonstrates a genotype-phenotype correlationHuman Molecular Genetics.  10:1591-1600. 2001
2001 Cloning and characterization of human WDR10, a novel gene located at 3q21 encoding a WD-repeat protein that is highly expressed in pituitary and testisDNA and Cell Biology.  20:41-52. 2001
2001 Association between Cys282Tyr missense mutation and haptoglobin phenotype polymorphism in patients with chronic hepatitis CEuropean Journal of Gastroenterology and Hepatology.  13:1077-1081. 2001
2001 Carrier screening for cystic fibrosis in a prenatal settingGenetic Testing and Molecular Biomarkers.  5:117-125. 2001
2001 Diverse prevalence of large deletions within the OA1 gene in ocular albinism type 1 patients from Europe and North AmericaHuman Genetics.  108:51-54. 2001
2000 A high occurrence of BRCA1 and BRCA2 mutations among Czech hereditary breast and breast-ovarian cancer families.Casopis lekaru ceskych.  139:635-637. 2000
2000 Occurrence of scleroderma in monozygotic twinsJournal of Rheumatology.  27:2267-2269. 2000
2000 Identification of BPESC1, a novel gene disrupted by a balanced chromosomal translocation, t(3;4)(q23;p15.2), in a patient with BPESGenomics.  68:296-304. 2000
2000 Exhaustive mutation analysis of the NF1 gene allows identification of 95% of mutations and reveals a high frequency of unusual splicing defectsHuman Mutation.  15:541-555. 2000
2000 New insights in the molecular causes of familial breast and ovarian cancerTijdschrift voor geneeskunde.  56:473-483. 2000
2000 Arg-Cys substitution at codon 1246 of the human myosin Va gene is not associated with Griscelli syndromeJournal of Investigative Dermatology.  114:731-733. 2000
2000 Exhaustive mutation analysis of the NF1 gene allows identification of 95% of mutations and reveals a high frequency of unusual splicing defects.Human Mutation.  15:541-555. 2000
2000 Prevalence of the Cys282Tyr and His63Asp mutation in flemish patients with hereditary hemochromatosisActa Gastro-Enterologica Belgica.  63:250-253. 2000
2000 The exon 13 duplication in the BRCA1 gene is a founder mutation present in geographicaly diverse populationsAmerican Journal of Human Genetics.  67:207-212. 2000
1999 Hereditary hemochromatosis: From cells and the iron age to genetic diagnosis [1]Tijdschrift voor geneeskunde.  55:770. 1999
1999 Closing in on the BPES gene on 3q23: Mapping of a de Novo reciprocal translocation t(3;4)(q23;p15.2) Breakpoint within a 45-kb cosmid and mapping of three candidate genes, RBP1, RBP2, and β'-COP, distal to the breakpointGenomics.  57:70-78. 1999
1999 Hereditary hemochromatosis: From cells and the iron age to genetic diagnosisTijdschrift voor geneeskunde.  55:143-147. 1999
1999 Exon 10b of the NF1 gene represents a mutational hotspot and harbors a recurrent missense mutation Y489C associated with aberrant splicingGenetics in Medicine.  1:248-253. 1999
1999 Genetic counselling and testing for hereditary breast and ovarian cancer: The gent(le) approachDisease Markers.  15:191-195. 1999
1999 Mutation analysis of the BRCA1 and BRCA2 genes in the Belgian patient population and identification of a Belgian founder mutation BRCA1 IVS5 + 3 A > GDisease Markers.  15:69-73. 1999
1999 Mutation analysis of the BRCA1 and BRCA2 genes results in the identification of novel and recurrent mutations in 6/16 flemish families with breast and/or ovarian cancer but not in 12 sporadic patients with early-onset disease. Mutations in brief no. 224. Online.Human Mutation.  13:256. 1999
1999 Preimplantation genetic diagnosis of Marfan syndrome with the use of fluorescent polymerase chain reaction and the automated laser fluorescence DNA sequencerFertility and Sterility.  71:163-166. 1999
1998 Noonan-like phenotype in monozygotic twins with a duplication-deficiency of the long arm of chromosome 18 resulting from a maternal paracentric inversionHuman Genetics.  103:497-505. 1998
1998 Assignment of SHOX2 (alias OG12X and SHOT) to human chromosome bands 3q25→q26.1 by in situ hybridizationCytogenetic and Genome Research.  82:228-229. 1998
1998 Assignment of the cellular retinol-binding protein 1 gene (RBP1) and of the coatomer beta subunit gene (COPB2) to human chromosome band 3q23 by in situ hybridizationCytogenetic and Genome Research.  82:226-227. 1998
1998 Assignment of the cellular retinol-binding protein 2 gene (RBP2) to human chromosome band 3q23 by in situ hybridizationCytogenetic and Genome Research.  83:240-241. 1998
1998 Human myosin V gene produces different transcripts in a cell type-specific mannerBiochemical and Biophysical Research Communications.  252:329-333. 1998
1998 Chondrodysplasia punctata with multiple congenital anomalies: A new syndrome? 1998
1998 Molecular analysis of 1p36 breakpoints in two merkel cell carcinomas 1998
1998 Prenatal diagnosis of a constitutional interstitial deletion of chromosome 5 (q15q31.1) presenting with features of congenital contractural arachnodactylyAmerican Journal of Medical Genetics Part A.  77:188-197. 1998
1998 Application of fluorescence in situ hybridization to the identification of different marker chromosomesEuropean Journal of Medical Genetics.  41:5-10. 1998
1998 Genetics in ophthalmology.Bulletin de la Societe belge d'ophtalmologie.  269:1-244. 1998
1997 Characterisation of two different nonsense mutations, C6792A and C6792G, causing skipping of exon 37 in the NF1 geneHuman Genetics.  101:75-80. 1997
1997 Analysis of 22 cystic fibrosis mutations in 62 patients from the flanders, Belgium, reveals a high prevalence of nordic mutation 394delTTHuman Mutation.  10:236-238. 1997
1997 Interstitial deletion 2q33.3-q34 in a boy with a phenotype resembling the Seckel syndromeAmerican Journal of Medical Genetics Part A.  71:479-485. 1997
1997 Interstitial deletion 2q33.3-q34 in a boy with a phenotype resembling the Seckel syndrome.American Journal of Medical Genetics Part A.  71:479-485. 1997
1997 Activated protein C resistance: Case reports and review of the literatureTijdschrift voor geneeskunde.  53:269-273. 1997
1997 Analysis of 22 cystic fibrosis mutations in 62 patients from the Flanders, Belgium, reveals a high prevalence of Nordic mutation 394delTT.Human Mutation.  10:236-238. 1997
1997 Identification of two different mutations causing protein s deficiency in two unrelated belgian families using a nonisotopic scanning and sequencing method 1997
1996 Report of the sixth international workshop on human chromosome 3 mapping 1995Cytogenetic and Genome Research.  72:255270. 1996
1996 Novel frameshift mutation in a heterozygous woman with fabry disease and end-stage renal failureAmerican Journal of Nephrology.  16:352-357. 1996
1996 Refined genetic and physical mapping of BPES type IIEuropean Journal of Human Genetics.  4:34-38. 1996
1996 Report of the sixth international workshop on human chromosome 3 mapping 1995.Cytogenetic and Genome Research.  72:255-270. 1996
1995 An in vitro model for chick embryonic notochords 1995
1993 Lack of independence between five DNA polymorphisms in the NF1 geneHuman Molecular Genetics.  2:485. 1993
1991 Spontaneous acquisition of tumorigenicity and invasiveness by mouse lens explant cells during culture in vitro.In vitro cellular & developmental biology : journal of the Tissue Culture Association.  27A:369-380. 1991
1991 Spontaneous acquisition of tumorigenicity and invasiveness by mouse lens explant cells during culture in vitroIn vitro cellular & developmental biology : journal of the Tissue Culture Association.  27:369-380. 1991
1987 Qualitative and quantitative analysis of tumour invasion in vivo and in vitroJournal of cell science. Supplement.  141-163. 1987
1987 Pathology of tumours produced in syngeneic fischer rats by fibroblast-like cells before and after transfection with oncogenes 1987
1986 Invasiveness and Metastatic Capability of Rat Fibroblast-like Cells before and after Transfection with Immortalizing and Transforming GenesCancer Research.  46:4787-4795. 1986


Year Title Altmetric
2012 Mutation analysis of the NF1 gene by cDNA-based sequencing of the coding region.  89-108. 2012
2012 Legius syndrome: Diagnosis and pathology.  487-496. 2012
2012 NF1 germline and somatic mosaicism.  151-172. 2012

Education And Training

  • Doctor of Philosophy in Biological and Biomedical Sciences, Ghent University 1990
  • Full Name

  • Ludwine Messiaen