E. Legius

I. Noens, J. Steyaert, E. Legius, 2015, American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics.

Proceedings from the 2009 genetic syndromes of the Ras/MAPK pathway: From bedside to bench and back

Alcino J. Silva, G. Nolan, A. Balmain, 2010, American journal of medical genetics. Part A.

Principles guiding embryo selection following genome-wide haplotyping of preimplantation embryos

T. de Ravel, K. Devriendt, J. Vermeesch, 2017, Human reproduction.

A study of the cognitive and psychological profile in 16 children with congenital or juvenile myotonic dystrophy

J. Steyaert, J. Fryns, E. Legius, 1997, Clinical genetics.

SVA retrotransposon insertion-associated deletion represents a novel mutational mechanism underlying large genomic copy number changes with non-recurrent breakpoints

D. Cooper, C. Lázaro, J. Högel, 2014, Genome Biology.

Large deletions of the APC gene in 15% of mutation‐negative patients with classical polyposis (FAP): A Belgian study

J. Vermeesch, S. Tejpar, J. Fryns, 2005, Human mutation.

Role of visual evoked potentials in the assessment and management of optic pathway gliomas in children

W. Spileers, I. Casteels, E. Legius, 2013, Documenta Ophthalmologica.

Cognitive Dysfunctions in Intellectual Disabilities: The Contributions of the Ras-MAPK and PI3K-AKT-mTOR Pathways.

C. Bagni, E. Legius, H. Brems, 2017, Annual review of genomics and human genetics.

Ophthalmological assessment of children with neurofibromatosis type 1

W. Spileers, I. Casteels, E. Legius, 2013, European Journal of Pediatrics.

PRC2 loss amplifies Ras-driven transcription and confers sensitivity to BRD4-based therapies

Eric Legius, Kristian Helin, Hildegard Kehrer-Sawatzki, 2014, Nature.

The biology of cutaneous neurofibromas

R. Lavker, J. Brosseau, V. Riccardi, 2018, Neurology.

TP53 mutations are frequent in malignant NFI tumors

P. Marynen, T. Glover, R. Wu, 1994, Genes, chromosomes & cancer.

Elevated risk for MPNST in NF1 microdeletion patients.

S. Pilotti, D. Vidaud, F. Perrone, 2003, American journal of human genetics.

Atypical neurofibromas in neurofibromatosis type 1 are premalignant tumors

T. de Ravel, O. Gevaert, R. Sciot, 2011, Genes, chromosomes & cancer.

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

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

Chromosome 15 maternal uniparental disomy and psychosis in Prader-Willi syndrome

K. Devriendt, J. Fryns, G. Matthijs, 2003, Journal of medical genetics.

Presymptomatic Identification of Cancers in Pregnant Women During Noninvasive Prenatal Testing.

P. Neven, J. Vermeesch, L. Dehaspe, 2015, JAMA oncology.

EPCAM germline and somatic rearrangements in lynch syndrome: identification of a novel 3′EPCAM deletion

Eline Beert, G. Matthijs, K. Wimmer, 2013, Genes, chromosomes & cancer.

Skewed X-chromosome inactivation in female carriers of dyskeratosis congenita.

K. Devriendt, J. Fryns, G. Matthijs, 1997, American journal of human genetics.

Cohen syndrome: the clinical symptoms and stigmata at a young age

K. Devriendt, J. Fryns, E. Legius, 1996 .

Legius Syndrome and SPRED1

E. Legius, H. Brems, T. Ravel, 2010 .

Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype–phenotype study in neurofibromatosis type 1

Michael F. Wangler, E. Haan, E. Zackai, 2019, Human mutation.

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.

Challenges in Treating Genodermatoses: New Therapies at the Horizon

C. Bodemer, D. Hohl, F. Giuliano, 2022, Frontiers in Pharmacology.

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

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

Real-time quantitative allele discrimination assay using 3' locked nucleic acid primers for detection of low-percentage mosaic mutations.

F. Speleman, J. Vandesompele, L. Messiaen, 2006, Analytical biochemistry.

Molecular dissection of isolated disease features in mosaic neurofibromatosis type 1.

F. Speleman, J. Vandesompele, L. Messiaen, 2007, American journal of human genetics.

Genetic and cellular defects contributing to benign tumor formation in neurofibromatosis type 1.

D. Gutmann, J. Rutkowski, E. Legius, 2000, Human molecular genetics.

Mutation in NRAS in familial Noonan syndrome – case report and review of the literature

E. Legius, S. Ekvall, G. Annéren, 2015, BMC Medical Genetics.

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.

Diagnostic genetic testing for hereditary breast and ovarian cancer in cancer patients: women's looking back on the pre-test period and a psychological evaluation.

E. Legius, G. Evers‐Kiebooms, M. Decruyenaere, 2004, Genetic testing.

The behavioural phenotype in velo-cardio-facial syndrome (VCFS): from infancy to adolescence.

K. Devriendt, J. Fryns, E. Legius, 1999, Genetic counseling.

Comparative Oncogenomic Analysis of Copy Number Alterations in Human and Zebrafish Tumors Enables Cancer Driver Discovery

J. Postlethwait, S. Hoersch, A. Amsterdam, 2013, PLoS genetics.

Boosting care and knowledge about hereditary cancer: European Reference Network on Genetic Tumour Risk Syndromes

E. Schröck, C. Lázaro, G. Capellá, 2018, Familial Cancer.

Noonan syndrome‐like disorder with loose anagen hair: A second case with neuroblastoma

C. Dominici, S. Bernasconi, M. Tartaglia, 2015, American journal of medical genetics. Part A.

Oncogenetic testing, diagnosis and follow-up in Birt-Hogg-Dubé syndrome, familial atypical multiple mole melanoma syndrome and neurofibromatosis 1 and 2

K. Claes, S. Stordeur, E. Legius, 2015 .

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.

Evaluation of RAD51C as cancer susceptibility gene in a large breast-ovarian cancer patient population referred for genetic testing

M. Blok, C. J. Asperen, G. Matthijs, 2012, Breast Cancer Research and Treatment.

Pathogenesis of vestibular schwannoma in ring chromosome 22

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

Somatic loss of wild type NF1 allele in neurofibromas: Comparison of NF1 microdeletion and non‐microdeletion patients

F. Speleman, J. Vermeesch, R. Sciot, 2006, Genes, chromosomes & cancer.

Updated diagnostic criteria and nomenclature for neurofibromatosis type 2 and schwannomatosis: An international consensus recommendation.

Michael Fisher, A. Stemmer-Rachamimov, B. Korf, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

Mutations in L1-CAM in two families with X linked complicated spastic paraplegia, MASA syndrome, and HSAS.

P. Marynen, J. Fryns, T. Glover, 1995, Journal of medical genetics.

The characteristics of 76 atypical neurofibromas as precursors to neurofibromatosis 1 associated malignant peripheral nerve sheath tumors

R. Sciot, E. Legius, H. Brems, 2018, Neuro-oncology.

Cognitive function and academic performance in neurofibrornatosis 1

M. Denckla, K. North, V. Riccardi, 1997, Neurology.

Neurofibromatosis type I gene mutation in a patient with features of LEOPARD syndrome

W. Robberecht, J. Fryns, R. Wu, 1996, Human mutation.

Encephalocraniocutaneous lipomatosis with a mutation in the NF1 gene.

P. Marynen, J. Fryns, E. Legius, 1995, Journal of medical genetics.

SHORT COMMUNICATION /WI-Related Locus on Chromosome 15

F. Collins, T. Glover, M. Wallace, 1992 .

NF1-related locus on chromosome 15.

F. Collins, T. Glover, M. Wallace, 1992, Genomics.

Molecular and cytogenetic analysis of tumors in von recklinghausen neurofibromatosis

T. Glover, L. B. Andersen, E. Legius, 1991, Genes, chromosomes & cancer.

Investigating the long-term effects of systemic chemotherapy on brain white matter using multi-shell diffusion MRI and myelin water imaging

A. Leemans, R. Peeters, B. Mädler, 2014 .

Correlations between triplet repeat expansion and clinical features in Huntington's disease.

S. Claes, R. Dom, E. Legius, 1996, Archives of neurology.

A detailed landscape of genomic alterations in malignant peripheral nerve sheath tumor cell lines challenges the current MPNST diagnosis

J. Fletcher, C. Lázaro, B. Gel, 2022, bioRxiv.

Noninvasive prenatal testing using a novel analysis pipeline to screen for all autosomal fetal aneuploidies improves pregnancy management

H. Peeters, K. Devriendt, J. Vermeesch, 2015, European Journal of Human Genetics.

What the neurosurgeon should know about hemangioblastoma, both sporadic and in Von Hippel-Lindau disease: A literature review

R. Sciot, E. Legius, F. Calenbergh, 2013, Surgical neurology international.

Intestinal neurofibromatosis is a subtype of familial GIST and results from a dominant activating mutation in PDGFRA.

P. Marynen, R. Sciot, M. Debiec‐Rychter, 2006, Gastroenterology.

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.

Unilateral Coats’-like disease and an intragenic deletion in the TERC gene: A case report

E. Legius, C. Cassiman, G. Peene, 2018, Ophthalmic genetics.

Gender-specific regional changes in genetic structure of muscularity in early adolescence.

A. Claessens, G. Beunen, R. Loos, 1997, Journal of applied physiology.

SEX-SPECIFIC REGIONAL CHANGES IN THE GENETIC STRUCTURE OF MUSCULARITY IN EARLY ADOLESCENCE 961

A. Claessens, G. Beunen, R. Loos, 1997 .

Minimum prevalence, birth incidence and cause of death for Prader–Willi syndrome in Flanders

K. Devriendt, G. Mortier, J. Fryns, 2004, European Journal of Human Genetics.

The cardiofaciocutaneous syndrome: prenatal findings in two patients

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

Prophylactic salpingo-oophorectomy in 51 women with familial breast–ovarian cancer: importance of fallopian tube dysplasia

P. Neven, F. Amant, E. Legius, 2005, International Journal of Gynecologic Cancer.

Cardiac involvement and CTG expansion in myotonic dystrophy

W. Robberecht, E. Legius, P. Theys, 2002, Journal of Neurology.

PGD for a complex chromosomal rearrangement by array comparative genomic hybridization.

J. Vermeesch, C. Robberecht, T. Voet, 2011, Human reproduction.

Diaphragmatic hernia in Denys-Drash syndrome.

K. Devriendt, F. de Zegher, E. Legius, 1995, American journal of medical genetics.

From process to progress—2017 International Conference on Neurofibromatosis 1, Neurofibromatosis 2 and Schwannomatosis

Karlyne M. Reilly, A. Lloyd, D. Evans, 2019, American journal of medical genetics. Part A.

NF2gene deletion in a family with a mild phenotype

J. Zucman‐Rossi, G. Thomas, C. López-Correa, 2000, Journal of medical genetics.

Simvastatin for cognitive deficits and behavioural problems in patients with neurofibromatosis type 1 (NF1-SIMCODA): a randomised, placebo-controlled trial

C. Catsman-Berrevoets, Y. Vergouwe, H. Moll, 2013, The Lancet Neurology.

TNPO2 variants associate with human developmental delays, neurologic deficits, and dysmorphic features and alter TNPO2 activity in Drosophila.

Michael F. Wangler, Q. K. Tan, R. Pfundt, 2021, American journal of human genetics.

Legius Syndrome: Diagnosis and Pathology

L. Messiaen, E. Legius, H. Brems, 2012 .

Alpha-1-proteinase inhibitor gene frequencies in Belgium.

J. Kimpen, E. Bosmans, E. Legius, 1990, Gene geography : a computerized bulletin on human gene frequencies.

Rickets due to dietary calcium deficiency

M. Smet, E. Legius, R. Bouillon, 1989, European Journal of Pediatrics.

Mutation analysis in adenylosuccinate lyase deficiency: Eight novel mutations in the re‐evaluated full ADSL coding sequence

E. Legius, J. Cassiman, J. Jaeken, 1999, Human mutation.

Visual loss as the presenting sign of Jeune syndrome.

I. Casteels, E. Legius, E. Demandt, 2000, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

ERN GENTURIS clinical practice guidelines for the diagnosis, treatment, management and surveillance of people with schwannomatosis

E. Legius, R. Ferner, D. G. Evans, 2022, European Journal of Human Genetics.

Methylation Defect in Imprinted Genes Detected in Patients with an Albright's Hereditary Osteodystrophy Like Phenotype and Platelet Gs Hypofunction

D. Lambrechts, K. Devriendt, F. de Zegher, 2012, PloS one.

Comprehensive genome-wide analysis of routine non-invasive test data allows cancer prediction: A single-center retrospective analysis of over 85,000 pregnancies

P. Neven, K. Devriendt, J. Vermeesch, 2021, EClinicalMedicine.

Constitutional mismatch repair deficiency as a differential diagnosis of neurofibromatosis type 1: consensus guidelines for testing a child without malignancy

L. Messiaen, K. Wimmer, E. Legius, 2018, Journal of Medical Genetics.

Fine mapping of Noonan/cardio-facio cutaneous syndrome in a large family

J. Fryns, G. Matthijs, E. Legius, 1998, European Journal of Human Genetics.

Prader-Willi syndrome in a child with mosaic trisomy 15 and mosaic triplo-X: a molecular analysis.

K. Devriendt, S. Claes, J. Fryns, 1997, Journal of medical genetics.

Genetic and phenotypic characterization of tumor cells derived from malignant peripheral nerve sheath tumors of neurofibromatosis type 1 patients

M. Debiec‐Rychter, L. Kluwe, R. Friedrich, 2004, Neurobiology of Disease.

Defective membrane expression of the Na+-HCO3− cotransporter NBCe1 is associated with familial migraine

K. Mikoshiba, W. van Paesschen, B. Bergmans, 2010, Proceedings of the National Academy of Sciences.

Genotype-phenotype associations in a large PTEN Hamartoma Tumor Syndrome (PHTS) patient cohort.

J. Schuurs-Hoeijmakers, M. Genuardi, T. Kleefstra, 2022, European journal of medical genetics.

Molecular and Cellular Mechanisms of Learning Disabilities: A Focus on Neurofibromatosis Type I

Alcino J. Silva, B. Wiltgen, E. Legius, 2008 .

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

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

Predictive Genetic Testing for Hereditary Breast and Ovarian Cancer: Psychological Distress and Illness Representations 1 Year Following Disclosure

E. Legius, G. Evers‐Kiebooms, M. Decruyenaere, 2005, Journal of Genetic Counseling.

Cancer Surveillance Guideline for individuals with PTEN hamartoma tumour syndrome

E. Schröck, C. Lázaro, G. Capellá, 2020, European Journal of Human Genetics.

Proposal of New Diagnostic Criteria

E. Legius, H. Brems, G. Tadini, 2020 .

Alagille syndrome (arteriohepatic dysplasia) and del(20)(p11.2)

B. Eyskens, J. Fryns, E. Legius, 1990, American journal of medical genetics.

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 1*♦

R. Morita, A. Yoshimura, L. Messiaen, 2015, The Journal of Biological Chemistry.

Recent developments in neurofibromatoses and RASopathies: Management, diagnosis and current and future therapeutic avenues

M. Patton, S. Huson, M. Vikkula, 2015, American journal of medical genetics. Part A.

Comparative study of the ophthalmological examinations in neurofibromatosis type 1. Proposal for a new screening algorithm.

I. Casteels, E. Legius, C. Cassiman, 2015, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

A compound nucleotide repeat in the neurofibromatosis (NF1) gene.

F. Collins, L. B. Andersen, D. Marchuk, 1993, Human molecular genetics.

A novel 7.4 kb mitochondrial deletion in a patient with congenital progressive external ophthalmoplegia, muscle weakness and mental retardation.

W. Robberecht, J. Fryns, G. Matthijs, 1999, Genetic counseling.

Does Paclitaxel-Carboplatin Chemotherapy in a Dose-Dense Regimen Enhance Survival of BRCA-Related Ovarian Cancer Patients?

P. Neven, F. Amant, E. Legius, 2009, International Journal of Gynecologic Cancer.

Emotional and behavioral problems in children and adolescents with neurofibromatosis type 1

H. Moll, E. Legius, E. Plasschaert, 2018, American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics.

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.

Predictive testing for hereditary non-polyposis colorectal cancer: motivation, illness representations and short-term psychological impact.

E. Legius, G. Evers‐Kiebooms, A. Boogaerts, 2004, Patient education and counseling.

Sporadic late onset ornithine transcarbamylase deficiency in a boy with somatic mosaicism for an intragenic deletion

P. Marynen, M. Stul, E. Legius, 1990, Clinical 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.

Choroidal abnormalities in café‐au‐lait syndromes: a new differential diagnostic tool?

I. Casteels, E. Legius, H. Brems, 2017, Clinical genetics.

Keratinocytic epidermal nevus syndrome with Schwann cell proliferation, lipomatous tumour and mosaic KRAS mutation

E. Legius, V. Mautner, H. Brems, 2015, BMC Medical Genetics.

Molecular characterization of two novel KIT mutations in patients with piebaldism.

E. Legius, B. Wasąg, M. Chmara, 2012, Journal of dermatological science.

Re-evaluation of MRX36 family after discovery of an ARX gene mutation reveals mild neurological features of Partington syndrome.

P. Marynen, J. Fryns, E. Legius, 2002, American journal of medical genetics.

Neurofibromatosis type 1‐related pseudarthrosis: Beyond the pseudarthrosis site

T. de Ravel, F. Luyten, L. Geris, 2016, Human mutation.

Neurofibromatosis type 1 ‐ relatedpseudarthrosis : Beyondthe pseudarthrosis site

F. Luyten, L. Geris, R. Sciot, 2019 .

E. Legius, T. de Raedt, C. Vermylen, 2007, Pediatric blood & cancer.

PTPN11 mutation in a large family with Noonan syndrome and dizygous twinning

J. Fryns, G. Matthijs, E. Legius, 2003, European Journal of Human Genetics.

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

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

Unusual molecular findings in autosomal recessive spinal muscular atrophy.

K. Devriendt, H. Kayserili, G. Matthijs, 1996, Journal of medical genetics.

Multiple pilomatricomas with somatic CTNNB1 mutations in children with constitutive mismatch repair deficiency

H. Peeters, T. Giner, R. Sciot, 2013, Genes, chromosomes & cancer.

Multiple Granular Cell Tumors in a Child with Noonan Syndrome

E. Legius, S. Bamps, T. Oyen, 2012, European Journal of Pediatric Surgery.

Has the Prevalence of Congenital Abnormalities after Intracytoplasmic Sperm Injection Increased? The Leuven Data 1994–2000 and a Review of the Literature

K. Demyttenaere, D. Vanderschueren, F. de Zegher, 2010, Gynecologic and Obstetric Investigation.

SOX10 mutations in patients with Waardenburg-Hirschsprung disease

Giovanni Romeo, Gert Matthijs, Eric Legius, 1998, Nature Genetics.

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

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

Cancer Genetics Service Provision: A Comparison of Seven European Centres

G. Rennert, C. V. van Asperen, E. Legius, 2004, Public Health Genomics.

Comprehensive NF1 screening on cultured Schwann cells from neurofibromas

G. Mortier, F. Speleman, J. Vandesompele, 2006, Human mutation.

Ru2 and Ru encode mouse orthologs of the genes mutated in human Hermansky-Pudlak syndrome types 5 and 6

B. Roe, R. Elliott, R. Spritz, 2003, Nature Genetics.

A combined syndrome of juvenile polyposis and hereditary haemorrhagic telangiectasia associated with mutations in MADH4 (SMAD4)

A. Rustgi, G. Repetto, S. Tejpar, 2004, The Lancet.

Dominant branchial cleft syndrome with characteristics of both branchio‐oto‐renal and branchio‐oculo‐facial syndrome

J. Fryns, E. Legius, H. Berghe, 1990, Clinical genetics.

Reply to Dr. Lin

J. Fryns, E. Legius, 1992 .

Opitz C syndrome and pseudohypoaldosteronism.

F. de Zegher, J. Fryns, E. Legius, 1990, American journal of medical genetics.

Molecular Basis of Glomus Tumours

E. Legius, H. Brems, D. Stewart, 2012 .

Diagnosis, management, and complications of glomus tumours of the digits in neurofibromatosis type 1

R. Sciot, L. Yao, E. Legius, 2010, Journal of Medical Genetics.

Glomus tumors in neurofibromatosis type 1: genetic, functional, and clinical evidence of a novel association.

R. Sciot, L. Yao, K. Claes, 2009, Cancer research.

Multifocal glomus tumours of the fingers in two patients with neurofibromatosis type 1

E. Legius, R. Sciot, L. de Smet, 2002, Journal of medical genetics.

CNGB3 mutations account for 50% of all cases with autosomal recessive achromatopsia

P. Sieving, S. Jacobson, R. Salati, 2005, European Journal of Human Genetics.

Mutation analysis of patients with Hermansky-Pudlak syndrome: a frameshift hot spot in the HPS gene and apparent locus heterogeneity.

R. Spritz, E. Legius, E. Héon, 1998, American journal of human genetics.

Multidisciplinary Approach to Neurofibromatosis Type 1

E. Legius, H. Brems, G. Tadini, 2020 .

Genetic abnormalities and male infertility. A comprehensive review.

D. Vanderschueren, E. Legius, T. D’Hooghe, 1998, European journal of obstetrics, gynecology, and reproductive biology.

Pregnancy outcome and long term prognosis in 868 children born after second trimester amniocentesis for maternal serum positive triple test screening and normal prenatal karyotype

K. Devriendt, J. Fryns, E. Legius, 2001, Journal of medical genetics.

Increased proportion of exon 9 alternatively spliced CFTR transcripts in vas deferens compared with nasal epithelial cells.

H. V. Van Poppel, E. Legius, H. Cuppens, 1997, Human molecular genetics.

Comparative PRKAR1A genotype-phenotype analyses in humans with Carney complex and prkar1a haploinsufficient mice.

Kimberly Burton, Tsuneo Imai, Yan Song, 2004, Proceedings of the National Academy of Sciences of the United States of America.

The NF1 tumor suppressor critically regulates TSC2 and mTOR.

C. Johannessen, M. James, E. Reczek, 2005, Proceedings of the National Academy of Sciences of the United States of America.

Recombination hotspot in NF1 microdeletion patients.

M. Dorschner, P. Marynen, C. Lázaro, 2001, Human molecular genetics.

Somatic deletion of the neurofibromatosis type 1 gene in a neurofibrosarcoma supports a tumour suppressor gene hypothesis

F. Collins, T. Glover, D. Marchuk, 1993, Nature Genetics.

Mechanisms in the pathogenesis of malignant tumours in neurofibromatosis type 1.

T. de Ravel, Eline Beert, E. Legius, 2009, The Lancet. Oncology.

Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844–848

E. Zackai, G. Mortier, David T. Miller, 2017, American journal of human genetics.

Cotargeting MNK and MEK kinases induces the regression of NF1-mutant cancers.

E. Legius, O. Maertens, J. Graff, 2016, The Journal of clinical investigation.

Molecular pathogenesis of multiple gastrointestinal stromal tumors in NF1 patients.

F. Speleman, J. Vermeesch, R. Sciot, 2006, Human molecular genetics.

Comprehensive targeted next‐generation sequencing approach in the molecular diagnosis of gastrointestinal stromal tumor

R. Sciot, L. Dehaspe, M. Debiec‐Rychter, 2020, Genes, Chromosomes and Cancer.

Comprehensive targeted NGS approach in the molecular diagnosis of GIST.

R. Sciot, L. Dehaspe, M. Debiec‐Rychter, 2020, Genes, chromosomes & cancer.

Clinical and molecular aspects of RAS related disorders

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

Somatic NF1 Mutations in Tumors and Other Tissues

E. Serra, E. Legius, O. Maertens, 2008 .

Molecular studies in 20 submicroscopic neurofibromatosis type 1 gene deletions

X. Estivill, P. Marynen, C. Lázaro, 1999, Human mutation.

Genetics of Neurocutaneous Syndromes

E. Legius, 2022, Neurocutaneous Disorders.

NF1 patient missense variants predict a role for ATM in modifying neurofibroma initiation

Lisa J. Martin, P. Andreassen, M. Wallace, 2019, Acta Neuropathologica.

Jaffe–Campanacci syndrome, revisited: detailed clinical and molecular analyses determine whether patients have neurofibromatosis type 1, coincidental manifestations, or a distinct disorder

K. Claes, Joseph J Shen, T. Callens, 2013, Genetics in Medicine.

Biallelic inactivation of NF1 in a sporadic plexiform neurofibroma

R. Sciot, M. Debiec‐Rychter, Eline Beert, 2012, Genes, chromosomes & cancer.

Copy number variations in the NF1 gene region are infrequent and do not predispose to recurrent type-1 deletions

D. Cooper, H. Kehrer-Sawatzki, L. Kluwe, 2008, European Journal of Human Genetics.

Review and update of SPRED1 mutations causing legius syndrome

E. Pasmant, L. Messiaen, M. Upadhyaya, 2012, Human mutation.

Mutations in the CCN gene family member WISP3 cause progressive pseudorheumatoid dysplasia

R. Pauli, M. Warman, W. Hul, 1999, Nature Genetics.

Progressive pseudorheumatoid arthritis of childhood (PPAC) and normal adult height

J. Fryns, E. Legius, M. Mulier, 1993, Clinical genetics.

Low mutation burden and frequent loss of CDKN2A/B and SMARCA2, but not PRC2, define pre-malignant neurofibromatosis type 1-associated atypical neurofibromas.

Nancy F. Hansen, J. Mullikin, N. Hansen, 2019, Neuro-oncology.

Revised diagnostic criteria for neurofibromatosis type 1 and Legius syndrome: an international consensus recommendation

Michael Fisher, A. Stemmer-Rachamimov, B. Korf, 2021, Genetics in Medicine.

Mitotic recombination of chromosome arm 17q as a cause of loss of heterozygosity of NF1 in neurofibromatosis type 1‐associated glomus tumors

A. Dutra, P. Van Loo, R. Sciot, 2012, Genes, chromosomes & cancer.

Kallmann syndrome: 14 novel mutations in KAL1 and FGFR1 (KAL2)

J. Hardelin, Jacques Young, D. Lacombe, 2005, Human mutation.

A yeast artificial chromosome contig encompassing the type 1 neurofibromatosis gene.

F. Collins, P. Taillon-Miller, B. Brownstein, 1992, Genomics.

Restrictive dermopathy with distinct morphological abnormalities.

C. de Wolf‐Peeters, J. Fryns, E. Legius, 1990, American journal of medical genetics.

SSCP: a tool for contig building of duplicated genomic regions

P. Marynen, J. Vermeesch, C. López-Correa, 2000 .

Characterization of the nonallelic homologous recombination hotspot PRS3 associated with type‐3 NF1 deletions

Antje M Zickler, H. Kestler, D. Cooper, 2012, Human mutation.

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

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

Preimplantation genetic diagnosis using fluorescent in situ hybridization for cancer predisposition syndromes caused by microdeletions.

J. Vermeesch, J. Fryns, E. Legius, 2009, Human reproduction.

Episignature Mapping of TRIP12 Provides Functional Insight into Clark–Baraitser Syndrome

S. Julia, D. Wieczorek, H. Van Esch, 2022, International journal of molecular sciences.

Guidelines for the Li–Fraumeni and heritable TP53-related cancer syndromes

E. Schröck, C. Lázaro, G. Capellá, 2020, European Journal of Human Genetics.

Deep genomic analysis of malignant peripheral nerve sheath tumor cell lines challenges current malignant peripheral nerve sheath tumor diagnosis

J. Fletcher, C. Lázaro, B. Gel, 2023, iScience.

Cardiofaciocutaneous (CFC) Syndrome

E. Legius, E. Denayer, 2011 .

PTPN11 mutations in LEOPARD syndrome

J. Fryns, E. Legius, E. Schollen, 2002, Journal of medical genetics.

The biology of cutaneous neuro ﬁ bromas Consensus recommendations for setting research priorities

R. Lavker, J. Brosseau, E. Legius, 2022 .

Mutational spectrum by phenotype: panel‐based NGS testing of patients with clinical suspicion of RASopathy and children with multiple café‐au‐lait macules

N. Baena, C. Lázaro, Andreu Alibés, 2019, Clinical genetics.

Legius syndrome, an Update. Molecular pathology of mutations in SPRED1.

E. Legius, H. Brems, 2013, The Keio journal of medicine.

Genetic basis of neurofibromatosis type 1 and related conditions, including mosaicism

E. Legius, H. Brems, 2020, Child's Nervous System.

Optical Coherence Tomography Angiography of Retinal Microvascular Changes Overlying Choroidal Nodules in Neurofibromatosis Type 1

I. Casteels, E. Legius, J. Jacob, 2017, Case Reports in Ophthalmology.

Unequal meiotic crossover: a frequent cause of NF1 microdeletions.

P. Marynen, C. Lázaro, E. Legius, 2000, American journal of human genetics.

Spred1 Is Required for Synaptic Plasticity and Hippocampus-Dependent Learning

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

Genomic organization and evolution of the NF1 microdeletion region.

P. Marynen, J. Vermeesch, C. López-Correa, 2004, Genomics.

Personality profiles of children and adolescents with neurofibromatosis type 1

P. Onghena, J. Fryns, E. Legius, 2003, American journal of medical genetics. Part A.

Mutation analysis of RAD51D in non-BRCA1/2 ovarian and breast cancer families

W. Foulkes, P. Tonin, K. Claes, 2012, British Journal of Cancer.

Spectrum of single‐ and multiexon NF1 copy number changes in a cohort of 1,100 unselected NF1 patients

H. Kehrer-Sawatzki, K. Claes, T. Callens, 2006, Genes, chromosomes & cancer.

Identification of novel deletion breakpoints bordered by segmental duplications in the NF1 locus using high resolution array-CGH

L. Bolund, D. Vetrie, A. Piotrowski, 2005, Journal of Medical Genetics.

Intelligence in individuals with a neurofibromatosis type 1 microdeletion

E. Legius, H. Brems, M. Descheemaeker, 2004, American journal of medical genetics. Part A.

Predictive testing for hereditary breast and ovarian cancer: a psychological framework for pre-test counselling

K. Demyttenaere, E. Legius, G. Evers‐Kiebooms, 2000, European Journal of Human Genetics.

Cognitive function and academic performance in neurofibromatosis. 1: consensus statement from the NF1 Cognitive Disorders Task Force.

M. Denckla, K. North, V. Riccardi, 1997, Neurology.

Legius Syndrome in Fourteen Families

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

The Learning Disabilities Network (LeaDNet): Using neurofibromatosis type 1 (NF1) as a paradigm for translational research

Alcino J. Silva, G. Gioia, C. Bearden, 2012, American journal of medical genetics. Part A.

Rare autosomal trisomies detected by non-invasive prenatal testing: an overview of current knowledge

H. Peeters, K. Devriendt, J. Vermeesch, 2022, European Journal of Human Genetics.

Hemifacial microsomia in two patients further supporting chromosomal mosaicism as a causative factor

T. de Ravel, J. Fryns, E. Legius, 2001, Clinical dysmorphology.

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.

Predicting fetoplacental chromosomal mosaicism during non‐invasive prenatal testing

H. Peeters, T. de Ravel, K. Devriendt, 2018, Prenatal diagnosis.

Second polar body inclusion results in diploid/triploid mixoploidy.

P. Ribai, J. Fryns, E. Legius, 2003, Genetic counseling.

Concurrent whole-genome haplotyping and copy-number profiling of single cells.

Yves Moreau, Eric Legius, Masoud Zamani Esteki, 2015, American journal of human genetics.

ERN GENTURIS tumour surveillance guidelines for individuals with neurofibromatosis type 1

C. Lázaro, A. Wagner, S. Henley, 2023, EClinicalMedicine.

Neurofibromatosis Type 1–Associated MPNST State of the Science: Outlining a Research Agenda for the Future

Karlyne M. Reilly, K. Reilly, D. Gutmann, 2017, Journal of the National Cancer Institute.

Neurofibromatosis Type 1-Associated MPNST State of the Science: Outlining a Research Agenda for the Future.

Karlyne M. Reilly, K. Reilly, D. Gutmann, 2017 .

De novo 46,XX, dir dup (11)(q13.3→q14.2) in a patient with mental retardation, congenital cardiopathy and thrombopenia

R. Wu, E. Legius, L. Selleri, 1996, Clinical genetics.

Clinical implementation of NIPT – technical and biological challenges

H. Peeters, T. de Ravel, K. Devriendt, 2016, Clinical genetics.

Recurrent multilocular mandibular giant cell granuloma in neurofibromatosis type 1: Evidence for second hit mutation of NF1 gene in the jaw lesion and treatment with curettage and bone substitute materials.

A. Luebke, R. Friedrich, T. Grob, 2016, Journal of cranio-maxillo-facial surgery : official publication of the European Association for Cranio-Maxillo-Facial Surgery.

Neurofibromatosis type 1.

J. Fryns, E. Legius, H. van den Berghe, 1994, Genetic counseling.

Mutational analysis of the GPC3/GPC4 glypican gene cluster on Xq26 in patients with Simpson-Golabi-Behmel syndrome: identification of loss-of-function mutations in the GPC3 gene.

J. Fryns, E. Legius, G. Reekmans, 2000, Human molecular genetics.

CTF meeting 2012: Translation of the basic understanding of the biology and genetics of NF1, NF2, and schwannomatosis toward the development of effective therapies

Michael Fisher, B. Korf, J. Kissil, 2014, American journal of medical genetics. Part A.

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.

Congenital scalp defect, distal limb reduction anomalies, right spastic hemiplegia and hypoplasia of the left arteria cerebri media: Further evidence that interruption of early embryonic blood supply may result in Adams‐Oliver (plus) syndrome

J. Fryns, E. Legius, H. Berghe, 1996, Clinical genetics.

Rapid prenatal diagnosis of trisomy 21 in 5049 consecutive uncultured amniotic fluid samples by fluorescence in situ hybridisation (FISH)

K. Devriendt, J. Fryns, G. Matthijs, 2002, Prenatal diagnosis.

Surveillance Behavior and Prophylactic Surgery After Predictive Testing for Hereditary Breast/Ovarian Cancer

E. Legius, G. Evers‐Kiebooms, M. Decruyenaere, 2005, Behavioral medicine.

Psychotic disorders in Prader–Willi syndrome

K. Devriendt, J. Fryns, E. Legius, 2004, American journal of medical genetics. Part A.

Predictive testing for hereditary nonpolyposis colorectal cancer: subjective perception regarding colorectal and endometrial cancer, distress, and health-related behavior at one year post-test.

K. Devriendt, S. Tejpar, E. Legius, 2005, Genetic testing.

Conservation of hotspots for recombination in low-copy repeats associated with the NF1 microdeletion

M. Stephens, P. Marynen, C. Lázaro, 2006, Nature Genetics.

Is cancer risk related to genes for steroid receptors and estrogen metabolism?

E. Legius, 2006, International journal of gynecological cancer : official journal of the International Gynecological Cancer Society.

BRCA1/2 predictive testing and gender: uptake, motivation and psychological characteristics.

E. Legius, G. Evers‐Kiebooms, A. Boogaerts, 2009, Genetic counseling.

Noninvasive prenatal diagnosis by genome-wide haplotyping of cell-free plasma DNA

K. Devriendt, J. Vermeesch, T. Voet, 2020, Genetics in Medicine.

Reply to Kratz et al.

E. Schröck, D. Evans, C. Lázaro, 2020, European Journal of Human Genetics.

An incidental finding of maternal multiple myeloma by non invasive prenatal testing

J. Vermeesch, E. Legius, P. Vandenberghe, 2017, Prenatal diagnosis.

Accuracy and clinical value of maternal incidental findings during noninvasive prenatal testing for fetal aneuploidies

H. Peeters, T. de Ravel, K. Devriendt, 2016, Genetics in Medicine.

Intelligence and psychosocial adjustment in velocardiofacial syndrome: a study of 37 children and adolescents with VCFS.

K. Devriendt, J. Steyaert, B. Eyskens, 1997, Journal of medical genetics.

Associated malformations and chromosomal anomalies in 42 cases of prenatally diagnosed diaphragmatic hernia.

D. Timmerman, J. Deprest, J. Fryns, 2001, American journal of medical genetics.

Deficient motor timing in children with neurofibromatosis type 1.

G. Vingerhoets, H. Van Waelvelde, K. Caeyenberghs, 2014, Research in developmental disabilities.

Neuropsychological profile in adults with neurofibromatosis type 1 compared to a control group.

E. Legius, E. Plasschaert, M. Descheemaeker, 2013, Journal of intellectual disability research : JIDR.

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.

A distinct neurocognitive phenotype in female fragile‐X premutation carriers assessed with visual attention tasks

J. Steyaert, J. Fryns, E. Legius, 2003, American journal of medical genetics. Part A.

Molecular-intelligence correlations in young fragile X males with a mild CGG repeat expansion in the FMR1 gene.

J. Steyaert, J. Fryns, E. Legius, 1996, American journal of medical genetics.

Capturing the wide variety of impaired fracture healing phenotypes in Neurofibromatosis Type 1 with eight key factors: a computational study

L. Geris, L. Geris, E. Legius, 2016, Scientific Reports.

Chromosome 22q12.1 microdeletions: confirmation of the MN1 gene as a candidate gene for cleft palate

K. Devriendt, H. Firth, J. Vermeesch, 2015, European Journal of Human Genetics.

Possible association of CD3 and CD4 polymorphisms with insulin‐dependent diabetes mellitus (IDDM)

P. Marynen, R. Decorte, E. Legius, 1994, Clinical and experimental immunology.

The development of a clinical screening instrument for tumour predisposition syndromes in childhood cancer patients.

R. Weksberg, R. Hennekam, L. Biesecker, 2013, European journal of cancer.

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

E. Legius, E. Denayer, 2009 .

New findings in the behavioral profile of young FraX females.

J. Steyaert, J. Fryns, E. Legius, 1996, American journal of medical genetics.

Disease‐associated mutations identify a novel region in human STING necessary for the control of type I interferon signaling

F. Rieux-Laucat, C. Bodemer, C. Wouters, 2017, The Journal of allergy and clinical immunology.

Increased and decreased relative risk for noninsulin‐dependent diabetes mellitus conferred by HLA class II and by CD4 alleles

P. Marynen, R. Decorte, E. Legius, 1995, Clinical genetics.

Non-invasive detection of genomic imbalances in Hodgkin/Reed-Sternberg cells in early and advanced stage Hodgkin's lymphoma by sequencing of circulating cell-free DNA: a technical proof-of-principle study.

J. Vermeesch, L. Dehaspe, F. Amant, 2015, The Lancet. Haematology.

Advancing RAS/RASopathy therapies: An NCI‐sponsored intramural and extramural collaboration for the study of RASopathies

M. Loh, D. Esposito, L. Biesecker, 2020, American journal of medical genetics. Part A.

Juvenile xanthogranuloma of the corneoscleral limbus: report of two cases

I. Casteels, E. Legius, P. Maudgal, 2011, Ophthalmic genetics.

Clinical aspects of the MASA syndrome in a large family, including expressing females

E. Legius, J. Higgins, S. Kapur, 1994, Clinical genetics.

Mutations in LZTR1 drive human disease by dysregulating RAS ubiquitination

E. Radaelli, F. Impens, R. Nussinov, 2018, Science.

Intraparenchymal meningioma in a 14-month-old infant: Case report

R. Dom, E. Legius, J. Vles, 1985, Brain and Development.

Polysyndactyly and trigonocephaly with partial agenesis of corpus callosum: an example of the variable clinical spectrum of the Acrocallosal syndrome?

K. Devriendt, J. Fryns, E. Legius, 1997, Clinical dysmorphology.

Characterization of the Fugu rubripes NLK and FN5 genes flanking the NF1 (Neurofibromatosis type 1) gene in the 5' direction and mapping of the human counterparts.

G. Elgar, H. Kehrer-Sawatzki, E. Legius, 2000, Gene.

Disease Burden and Symptom Structure of Autism in Neurofibromatosis Type 1: A Study of the International NF1-ASD Consortium Team (INFACT).

Jonathan Green, J. Constantino, L. Weiss, 2016, JAMA psychiatry.

Autism Spectrum Disorder Profile in Neurofibromatosis Type I

Jonathan Green, D. Evans, S. Huson, 2015, Journal of autism and developmental disorders.

Exclusion of linkage to 14q23‐24 in a family with Holt‐Oram syndrome

E. Legius, P. Moens, J. C. Ruiz, 1994, Clinical genetics.

Cutaneous telangiectasia, sparse hair and membranoproliferative glomerulonephritis

E. Legius, W. Proesmans, B. Damme, 1989, Pediatric nephrology (Berlin, West).

Hypotrichosis‐lymphedema‐telangiectasia‐renal defect associated with a truncating mutation in the SOX18 gene

M. Vikkula, D. Chitayat, E. Legius, 2015, Clinical genetics.

The clinical relevance of intragenic NRXN1 deletions

H. Peeters, L. Gallagher, T. de Ravel, 2017, Journal of Medical Genetics.

Association between CAG repeat number in the androgen receptor and male infertility in a Belgian study

D. Vanderschueren, G. Matthijs, E. Legius, 1999, Clinical genetics.

SREBP modulates the NADP+/NADPH cycle to control night sleep in Drosophila

C. Bagni, E. Legius, Vittoria Mariano, 2023, Nature Communications.

Genotype-phenotype correlations in families with deletions in the von Hippel-Lindau (VHL) gene

G. Mortier, P. Pearson, G. Matthijs, 2000, Human Genetics.

Prophylactic mastectomy in familial breast carcinoma. What do the pathologic findings learn us?

P. Neven, M. Christiaens, I. Vergote, 2008, Breast Cancer Research and Treatment.

Molecular dissection of isolated disease features in mosaic NF1 patients

F. Speleman, J. Vandesompele, L. Messiaen, 2007 .

Medullary thyroid carcinoma in a child with a new RET mutation and a RET polymorphism.

G. Matthijs, E. Legius, R. Sciot, 2005, Genetic Counseling.

Examination of the genetic factors underlying the cognitive variability associated with neurofibromatosis type 1

H. Moll, E. Legius, H. Brems, 2020, Genetics in Medicine.

Executive functioning deficits in children with neurofibromatosis type 1: The influence of intellectual and social functioning

I. Noens, J. Steyaert, E. Legius, 2016, American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics.

Behavioural, academic and neuropsychological profile of normally gifted Neurofibromatosis type 1 children.

J. Fryns, E. Legius, P. Ghesquière, 2005, Journal of intellectual disability research : JIDR.

MEK inhibition ameliorates social behavior phenotypes in a Spred1 knockout mouse model for RASopathy disorders

R. D'Hooge, S. Kushner, A. Yoshimura, 2021, Molecular Autism.

Impaired instrumental learning in Spred1−/− mice, a model for a rare RASopathy

A. Yoshimura, M. Kopanitsa, E. Legius, 2021, Genes, brain, and behavior.

Idiopathic multicentric osteolysis presents early and is not linked to chromosome 18q21.1

T. de Ravel, C. Wouters, J. Fryns, 2000, Journal of medical genetics.

SODIUM VALPROATE, PREGNANCY, AND INFANTILE FATAL LIVER FAILURE

E. Legius, E. Eggermont, J. Jaeken, 1987, The Lancet.

Visuoperceptual processing in children with neurofibromatosis type 1: True deficit or artefact?

J. Wagemans, I. Noens, J. Steyaert, 2017, American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics.

Germline Mutations of the hMLH1 and hMSH2 Mismatch Repair Genes in Belgian Hereditary Nonpolyposis Colon Cancer (HNPCC) Patients

S. Tejpar, G. Matthijs, E. Legius, 2005, Familial Cancer.

The neurodevelopmental and facial phenotype in individuals with a TRIP12 variant

Q. Waisfisz, S. Julia, D. Wieczorek, 2023, European Journal of Human Genetics.

Linkage analysis in three families with nonspecific X-linked mental retardation.

P. Marynen, S. Claes, J. Fryns, 1996, American journal of medical genetics.

Mutation in the gene for protein tyrosine phosphatase SHP-2 (PTPN11) in a large family with Noonan/cardio-facio-cutaneous syndrome

J. Fryns, G. Matthijs, E. Legius, 2002 .

MASA syndrome: new clinical features and linkage analysis using DNA probes.

J. Fryns, E. Legius, J. Cassiman, 1990, Journal of medical genetics.

Semilobar holoprosencephaly in a 46,XY female fetus

K. Devriendt, J. Fryns, M. Muenke, 2001, Prenatal diagnosis.

Maternal copy-number variations in the DMD gene as secondary findings in noninvasive prenatal screening

H. Peeters, T. de Ravel, K. Devriendt, 2019, Genetics in Medicine.

Holzgreve-Wagner-Rehder syndrome: Potter sequence associated with persistent buccopharyngeal membrane. A second observation.

J. Fryns, E. Legius, P. Moerman, 1988, American journal of medical genetics.

Behavioral and cognitive outcomes for clinical trials in children with neurofibromatosis type 1

H. Moll, E. Legius, Y. Elgersma, 2016, Neurology.

Noninvasive prenatal diagnosis by genome-wide haplotyping of cell-free plasma DNA

K. Devriendt, J. Vermeesch, T. Voet, 2020, Genetics in Medicine.

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.

Pathogenic mutations and rare variants of the APC gene identified in 75 Belgian patients with familial adenomatous polyposis by fluorescent enzymatic mutation detection (EMD)

S. Tejpar, J. Fryns, G. Matthijs, 2002, European Journal of Human Genetics.

Psychosocial Aspects of Familial Breast and Ovarian Cancer: Psychological Guidelines for Genetic Testing

K. Demyttenaere, E. Legius, G. Evers‐Kiebooms, 1999, Disease markers.

Supervised Classification of Array CGH Data with HMM-Based Feature Selection

Bart De Moor, Olivier Gevaert, Anneleen Daemen, 2008, Pacific Symposium on Biocomputing.

Limited Expansion of the (CAG)n Repeat of the Huntington Gene: A Premutation (?)

P. Marynen, K. Demyttenaere, R. Dom, 1994, European journal of human genetics : EJHG.

Neurofibromatosis type 1 in childhood: correlation of MRI findings with intelligence.

J. Steyaert, J. Fryns, E. Legius, 1995, Journal of neurology, neurosurgery, and psychiatry.

Lack of Hardy-Weinberg equilibrium for the most prevalent PMM2 mutation in CDG-Ia (congenital disorders of glycosylation type Ia)

M. Schwartz, G. Matthijs, E. Legius, 2000, European Journal of Human Genetics.

Fine mapping of X‐linked clasped thumb and mental retardation (MASA syndrome) in Xq28

T. Glover, E. Legius, J. Higgins, 1994, Clinical genetics.

MASA syndrome (a form of complicated spastic paraplegia) and X linked hydrocephalus: variable expression of the same mutation at Xq28? Call for families.

J. Fryns, E. Legius, J. Cassiman, 1992, Journal of medical genetics.

using DNA probes . features and linkage analysis MASA syndrome : new clinical

J. Fryns, E. Legius, J. Cassiman, 2022 .

Pneumosinus dilatans and orbital meningioma in neurofibromatosis type 2.

E. Legius, R. Sciot, M. Jorissen, 2005, B-ENT.

An 8.9 year old girl with autism and Gorlin syndrome.

J. Steyaert, E. Legius, H. Delbroek, 2011, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

Evidence for genetic heterogeneity in the carbohydrate-deficient glycoprotein syndrome type I (CDG1).

G. Matthijs, E. Legius, J. Cassiman, 1996, Genomics.

Screening for FMR-1 premutations in 122 older Flemish males presenting with ataxia

R. Dom, J. Fryns, G. Matthijs, 2005, European Journal of Human Genetics.

Identifying challenges in neurofibromatosis: a modified Delphi procedure

D. Evans, E. Legius, P. Wolkenstein, 2021, European Journal of Human Genetics.

Neurofibromatosis type 1 in childhood: a study of the neuropsychological profile in 45 children.

J. Fryns, E. Legius, P. Casaer, 1994, Genetic counseling.

Auralcephalosyndactyly: a new craniosynostosis syndrome or a variant of the Saethre-Chotzen syndrome?

J. Fryns, E. Legius, H. van den Berghe, 1989, Journal of medical genetics.

Neurofibroma (including variants)

C. Antonescu, J. Woodruff, E. Legius, 2013 .

Met>Val substitution in a highly conserved region of the pro-α1(I) collagen C-propeptide domain causes alternative splicing and a mild EDS/OI phenotype

A. De Paepe, E. Legius, L. Nuytinck, 2004, Journal of Medical Genetics.

Increased frequency of chromosomal abnormalities in female partners of couples undergoing in vitro fertilization or intracytoplasmic sperm injection.

J. Fryns, A. Schreurs, E. Legius, 2000, Fertility and sterility.

Muscular hypertrophy of the oesophagus and “Alport-like” glomerular lesions in a boy

E. Legius, E. Eggermont, T. Lerut, 1990, European Journal of Pediatrics.

Prevalence of Autism Spectrum Disorder symptoms in children with neurofibromatosis type 1.

I. Noens, J. Steyaert, E. Legius, 2015, American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics.

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.

The macrocephaly-cutis marmorata telangiectatica congenita syndrome. Long-term follow-up data in 4 children and adolescents.

K. Devriendt, J. Fryns, E. Legius, 1998, Genetic Counseling.

Apparently new "anophthalmia-plus" syndrome in sibs.

J. Fryns, E. Legius, P. Moerman, 1995, American journal of medical genetics.

Ophthalmological examination in neurofibromatosis type 1: a long‐term retrospective analysis

I. Casteels, E. Legius, A. Laenen, 2018, Acta ophthalmologica.

Progressive extrapyramidal disorder with primary hypogonadism and alopecia in sibs: a new syndrome?

K. Devriendt, J. Fryns, E. Legius, 1996, American journal of medical genetics.

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 .