PubRank

E Legius

Author PubWeight™ 93.93‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 SOX10 mutations in patients with Waardenburg-Hirschsprung disease. Nat Genet 1998 3.82
2 Mutations in the CCN gene family member WISP3 cause progressive pseudorheumatoid dysplasia. Nat Genet 1999 2.23
3 Intelligence and psychosocial adjustment in velocardiofacial syndrome: a study of 37 children and adolescents with VCFS. J Med Genet 1997 2.20
4 Elevated risk for MPNST in NF1 microdeletion patients. Am J Hum Genet 2003 1.62
5 Recombination hotspot in NF1 microdeletion patients. Hum Mol Genet 2001 1.61
6 Correlations between triplet repeat expansion and clinical features in Huntington's disease. Arch Neurol 1995 1.59
7 Linkage analysis in three families with nonspecific X-linked mental retardation. Am J Med Genet 1996 1.59
8 Cognitive function and academic performance in neurofibromatosis. 1: consensus statement from the NF1 Cognitive Disorders Task Force. Neurology 1997 1.52
9 Spectrum of single- and multiexon NF1 copy number changes in a cohort of 1,100 unselected NF1 patients. Genes Chromosomes Cancer 2006 1.41
10 Unequal meiotic crossover: a frequent cause of NF1 microdeletions. Am J Hum Genet 2000 1.40
11 The behavioural phenotype in velo-cardio-facial syndrome (VCFS): from infancy to adolescence. Genet Couns 1999 1.36
12 Lack of Hardy-Weinberg equilibrium for the most prevalent PMM2 mutation in CDG-Ia (congenital disorders of glycosylation type Ia). Eur J Hum Genet 2000 1.34
13 Genetic and cellular defects contributing to benign tumor formation in neurofibromatosis type 1. Hum Mol Genet 2000 1.27
14 Expanded motor and psychiatric phenotype in autosomal dominant Segawa syndrome due to GTP cyclohydrolase deficiency. J Neurol Neurosurg Psychiatry 2006 1.27
15 Skewed X-chromosome inactivation in female carriers of dyskeratosis congenita. Am J Hum Genet 1997 1.25
16 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. Hum Mol Genet 2000 1.21
17 Mutation analysis of patients with Hermansky-Pudlak syndrome: a frameshift hot spot in the HPS gene and apparent locus heterogeneity. Am J Hum Genet 1998 1.20
18 MASA syndrome: new clinical features and linkage analysis using DNA probes. J Med Genet 1990 1.19
19 Minimum prevalence, birth incidence and cause of death for Prader-Willi syndrome in Flanders. Eur J Hum Genet 2004 1.16
20 Increased proportion of exon 9 alternatively spliced CFTR transcripts in vas deferens compared with nasal epithelial cells. Hum Mol Genet 1997 1.15
21 Molecular studies in 20 submicroscopic neurofibromatosis type 1 gene deletions. Hum Mutat 1999 1.13
22 Clinical and molecular aspects of RAS related disorders. J Med Genet 2008 1.12
23 Schinzel acrocallosal syndrome: a variant example of the Greig syndrome? Ann Genet 1985 1.09
24 Identification of novel deletion breakpoints bordered by segmental duplications in the NF1 locus using high resolution array-CGH. J Med Genet 2005 1.06
25 PGD for a complex chromosomal rearrangement by array comparative genomic hybridization. Hum Reprod 2011 1.06
26 Mutations in L1-CAM in two families with X linked complicated spastic paraplegia, MASA syndrome, and HSAS. J Med Genet 1995 1.05
27 Molecular and cytogenetic analysis of tumors in von Recklinghausen neurofibromatosis. Genes Chromosomes Cancer 1991 1.05
28 Diaphragmatic hernia in Denys-Drash syndrome. Am J Med Genet 1995 1.03
29 Psychotic disorders in Prader-Willi syndrome. Am J Med Genet A 2004 1.00
30 Mutation analysis of RAD51D in non-BRCA1/2 ovarian and breast cancer families. Br J Cancer 2012 1.00
31 Neurofibromatosis type I gene mutation in a patient with features of LEOPARD syndrome. Hum Mutat 1996 0.99
32 Visual loss as the presenting sign of Jeune syndrome. Eur J Paediatr Neurol 2000 0.98
33 Predictive genetic testing for hereditary breast and ovarian cancer: psychological distress and illness representations 1 year following disclosure. J Genet Couns 2005 0.98
34 Germline mutations in NF1 patients with malignancies. Genes Chromosomes Cancer 1999 0.97
35 Association between XV2c/CS7/KM19/D9 haplotypes and the delta F508 mutation. A study of 57 Belgian families. Hum Genet 1990 0.96
36 Unusual molecular findings in autosomal recessive spinal muscular atrophy. J Med Genet 1996 0.96
37 Associated malformations and chromosomal anomalies in 42 cases of prenatally diagnosed diaphragmatic hernia. Am J Med Genet 2001 0.96
38 Mutation analysis in adenylosuccinate lyase deficiency: eight novel mutations in the re-evaluated full ADSL coding sequence. Hum Mutat 1999 0.96
39 Behavioural, academic and neuropsychological profile of normally gifted Neurofibromatosis type 1 children. J Intellect Disabil Res 2005 0.95
40 A study of the cognitive and psychological profile in 16 children with congenital or juvenile myotonic dystrophy. Clin Genet 1997 0.95
41 Rapid prenatal diagnosis of trisomy 21 in 5049 consecutive uncultured amniotic fluid samples by fluorescence in situ hybridisation (FISH). Prenat Diagn 2002 0.93
42 Molecular-intelligence correlations in young fragile X males with a mild CGG repeat expansion in the FMR1 gene. Am J Med Genet 1996 0.93
43 Chromosome 15 maternal uniparental disomy and psychosis in Prader-Willi syndrome. J Med Genet 2003 0.93
44 Prophylactic salpingo-oophorectomy in 51 women with familial breast-ovarian cancer: importance of fallopian tube dysplasia. Int J Gynecol Cancer 2006 0.92
45 Intelligence in individuals with a neurofibromatosis type 1 microdeletion. Am J Med Genet A 2004 0.91
46 Multifocal glomus tumours of the fingers in two patients with neurofibromatosis type 1. J Med Genet 2002 0.90
47 Cohen syndrome: the clinical symptoms and stigmata at a young age. Clin Genet 1996 0.90
48 EEC syndrome without ectrodactyly: report of two new families. J Med Genet 1990 0.90
49 Consecutive glioblastoma and B cell non-Hodgkin's lymphoma in a young child with von Recklinghausen's Neurofibromatosis. Med Pediatr Oncol 1995 0.89
50 Increased frequency of chromosomal abnormalities in female partners of couples undergoing in vitro fertilization or intracytoplasmic sperm injection. Fertil Steril 2000 0.89
51 Evidence for genetic heterogeneity in the carbohydrate-deficient glycoprotein syndrome type I (CDG1). Genomics 1996 0.88
52 Familial temporal lobe epilepsy with febrile seizures. Neurology 2002 0.88
53 Gender-specific regional changes in genetic structure of muscularity in early adolescence. J Appl Physiol (1985) 1997 0.87
54 Possible association of CD3 and CD4 polymorphisms with insulin-dependent diabetes mellitus (IDDM). Clin Exp Immunol 1994 0.87
55 Clinical aspects of the MASA syndrome in a large family, including expressing females. Clin Genet 1994 0.87
56 Progressive extrapyramidal disorder with primary hypogonadism and alopecia in sibs: a new syndrome? Am J Med Genet 1996 0.85
57 Association between CAG repeat number in the androgen receptor and male infertility in a Belgian study. Clin Genet 1999 0.85
58 Increased and decreased relative risk for non-insulin-dependent diabetes mellitus conferred by HLA class II and by CD4 alleles. Clin Genet 1995 0.83
59 A yeast artificial chromosome contig encompassing the type 1 neurofibromatosis gene. Genomics 1992 0.83
60 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. Clin Genet 1996 0.82
61 NRAS Mutations in Noonan Syndrome. Mol Syndromol 2012 0.82
62 Medullary thyroid carcinoma in a child with a new RET mutation and a RET polymorphism. Genet Couns 2005 0.82
63 Cancer genetics service provision: a comparison of seven European centres. Community Genet 2003 0.81
64 NF2 gene deletion in a family with a mild phenotype. J Med Genet 2000 0.81
65 A compound nucleotide repeat in the neurofibromatosis (NF1) gene. Hum Mol Genet 1993 0.81
66 MASA syndrome (a form of complicated spastic paraplegia) and X linked hydrocephalus: variable expression of the same mutation at Xq28? Call for families. J Med Genet 1992 0.80
67 Second polar body inclusion results in diploid/triploid mixoploidy. Genet Couns 2003 0.80
68 Genetic abnormalities and male infertility. A comprehensive review. Eur J Obstet Gynecol Reprod Biol 1998 0.80
69 The Larsen syndrome. The diagnostic contribution of the analysis of the metacarpophalangeal pattern profile. Genet Couns 1993 0.79
70 A novel 7.4 kb mitochondrial deletion in a patient with congenital progressive external ophthalmoplegia, muscle weakness and mental retardation. Genet Couns 1999 0.79
71 The cardiofaciocutaneous syndrome: prenatal findings in two patients. Prenat Diagn 2008 0.79
72 Prader-Willi syndrome in a child with mosaic trisomy 15 and mosaic triplo-X: a molecular analysis. J Med Genet 1997 0.78
73 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. J Med Genet 2001 0.78
74 Personality profiles of children and adolescents with neurofibromatosis type 1. Am J Med Genet A 2003 0.78
75 Evaluation of RAD51C as cancer susceptibility gene in a large breast-ovarian cancer patient population referred for genetic testing. Breast Cancer Res Treat 2012 0.78
76 Apparently new "anophthalmia-plus" syndrome in sibs. Am J Med Genet 1995 0.78
77 Germline mutations of the hMLH1 and hMSH2 mismatch repair genes in Belgian hereditary nonpolyposis colon cancer (HNPCC) patients. Fam Cancer 2006 0.78
78 Met>Val substitution in a highly conserved region of the pro-alpha1(I) collagen C-propeptide domain causes alternative splicing and a mild EDS/OI phenotype. J Med Genet 2004 0.78
79 Idiopathic multicentric osteolysis presents early and is not linked to chromosome 18q21.1. J Med Genet 2000 0.77
80 Neuropsychological profile in adults with neurofibromatosis type 1 compared to a control group. J Intellect Disabil Res 2012 0.77
81 Intraparenchymal meningioma in a 14-month-old infant: case report. Brain Dev 1985 0.77
82 BRCA1/2 predictive testing and gender: uptake, motivation and psychological characteristics. Genet Couns 2009 0.77
83 Role of visual evoked potentials in the assessment and management of optic pathway gliomas in children. Doc Ophthalmol 2013 0.77
84 Hypotrichosis-lymphedema-telangiectasia-renal defect associated with a truncating mutation in the SOX18 gene. Clin Genet 2014 0.77
85 Holoprosencephaly and postaxial polydactyly with normal chromosomes. Another observation of a new malformation syndrome; a case report. Eur J Obstet Gynecol Reprod Biol 1990 0.77
86 The macrocephaly-cutis marmorata telangiectatica congenita syndrome. Long-term follow-up data in 4 children and adolescents. Genet Couns 1998 0.76
87 Predictive testing for hereditary breast and ovarian cancer: a psychological framework for pre-test counselling. Eur J Hum Genet 2000 0.76
88 New findings in the behavioral profile of young FraX females. Am J Med Genet 1996 0.76
89 Hemifacial microsomia in two patients further supporting chromosomal mosaicism as a causative factor. Clin Dysmorphol 2001 0.76
90 Polysyndactyly and trigonocephaly with partial agenesis of corpus callosum: an example of the variable clinical spectrum of the Acrocallosal syndrome? Clin Dysmorphol 1997 0.75
91 Lethal osteochondrodysplasia and de novo autosomal translocation involving the long arm of chromosome 4. Am J Med Genet 1994 0.75
92 Patient with the combination of Klippel-Feil anomaly, partial agenesis of the sacrum, bladder incontinence, and unilateral hydronephrosis. J Craniofac Genet Dev Biol 1989 0.75
93 Two adult females with a distinct familial mental retardation syndrome: non-progressive neurological symptoms with ataxia and hypotonia, similar facial appearance, hypergonadotrophic hypogonadism, and retinal dystrophy. J Med Genet 1998 0.75
94 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. Gene 2000 0.75
95 Cutaneous telangiectasia, sparse hair and membranoproliferative glomerulonephritis. A new case of a newly recognized entity. Pediatr Nephrol 1989 0.75
96 Alpha-1-proteinase inhibitor gene frequencies in Belgium. Gene Geogr 1990 0.75
97 Four new DNA variants in the NF1 coding region. Genet Couns 2000 0.75
98 Predictive and prenatal genetic testing in hereditary ataxia's. Report of a workshop. Genet Couns 1996 0.75
99 Psychosocial aspects of familial breast and ovarian cancer: psychological guidelines for genetic testing. Dis Markers 1999 0.75
100 Preimplantation genetic diagnosis using fluorescent in situ hybridization for cancer predisposition syndromes caused by microdeletions. Hum Reprod 2009 0.75
101 Catel-Manzke palatodigital syndrome in a second trimester female foetus with nuchal oedema, costovertebral anomalies and radial ray defect. Genet Couns 1994 0.75
102 Hydrocephalus and spastic paraplegia result from a donor splice site mutation (2872 + 1G to A) in the L1CAM gene in a Venezuelan pedigree. Hum Mutat 1998 0.75
103 Pneumosinus dilatans and orbital meningioma in neurofibromatosis type 2. B-ENT 2005 0.75
104 Exclusion of linkage to 14q23-24 in a family with Holt-Oram syndrome. Clin Genet 1994 0.75
105 Sodium valproate, pregnancy, and infantile fatal liver failure. Lancet 1987 0.75
106 Marden-Walker phenotype: a diagnostic dilemma. Genet Couns 1996 0.75
107 Skin pigmentation anomalies in ring chromosome 13. Genet Couns 1998 0.75
108 Opitz C syndrome and pseudohypoaldosteronism. Am J Med Genet 1990 0.75
109 Erratum: Capturing the wide variety of impaired fracture healing phenotypes in Neurofibromatosis Type 1 with eight key factors: a computational study. Sci Rep 2017 0.75
110 Prenatal diagnosis of trisomy 21 between 1991 and 1999 in the Leuven Centre for Human Genetics: effect of triple test screening. Genet Couns 2002 0.75
111 Prenatal indomethacin toxicity in one member of monozygous twins; a case report. Eur J Obstet Gynecol Reprod Biol 1990 0.75
112 Chromosomal mosaicism limited to fibroblasts and MCA/MR syndrome with fetal hypokinesia of central nervous origin. Ann Genet 1994 0.75
113 Semilobar holoprosencephaly in a 46,XY female fetus. Prenat Diagn 2001 0.75
114 Restrictive dermopathy with distinct morphological abnormalities. Am J Med Genet 1990 0.75