PubRank

Michel Vekemans

Author PubWeight™ 92.47‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome. Nat Genet 2007 4.63
2 Polyalanine expansion and frameshift mutations of the paired-like homeobox gene PHOX2B in congenital central hypoventilation syndrome. Nat Genet 2003 3.96
3 Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes. Nat Genet 2010 3.66
4 Pleiotropic effects of CEP290 (NPHP6) mutations extend to Meckel syndrome. Am J Hum Genet 2007 3.42
5 Highly conserved non-coding elements on either side of SOX9 associated with Pierre Robin sequence. Nat Genet 2009 3.03
6 The Meckel-Gruber syndrome gene, MKS3, is mutated in Joubert syndrome. Am J Hum Genet 2006 2.96
7 Human neural tube defects: developmental biology, epidemiology, and genetics. Neurotoxicol Teratol 2005 2.62
8 Germline deletion of the miR-17∼92 cluster causes skeletal and growth defects in humans. Nat Genet 2011 2.04
9 Spectrum of MKS1 and MKS3 mutations in Meckel syndrome: a genotype-phenotype correlation. Mutation in brief #960. Online. Hum Mutat 2007 1.93
10 Matthew-Wood syndrome is caused by truncating mutations in the retinol-binding protein receptor gene STRA6. Am J Hum Genet 2007 1.86
11 Truncating neurotrypsin mutation in autosomal recessive nonsyndromic mental retardation. Science 2002 1.80
12 Long-chain fatty acid oxidation during early human development. Pediatr Res 2005 1.62
13 KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes. Nat Genet 2011 1.62
14 Germline gain-of-function mutations of ALK disrupt central nervous system development. Hum Mutat 2011 1.54
15 PAX8, TITF1, and FOXE1 gene expression patterns during human development: new insights into human thyroid development and thyroid dysgenesis-associated malformations. J Clin Endocrinol Metab 2004 1.53
16 CC2D2A mutations in Meckel and Joubert syndromes indicate a genotype-phenotype correlation. Hum Mutat 2009 1.48
17 The place of 'social sexing' in medicine and science. Hum Reprod 2002 1.44
18 Antenatal presentation of Bardet-Biedl syndrome may mimic Meckel syndrome. Am J Hum Genet 2005 1.43
19 TCTN3 mutations cause Mohr-Majewski syndrome. Am J Hum Genet 2012 1.29
20 Mutational, functional, and expression studies of the TCF4 gene in Pitt-Hopkins syndrome. Hum Mutat 2009 1.28
21 Contiguous gene deletion within chromosome arm 10q is associated with juvenile polyposis of infancy, reflecting cooperation between the BMPR1A and PTEN tumor-suppressor genes. Am J Hum Genet 2006 1.24
22 Human neural crest cells display molecular and phenotypic hallmarks of stem cells. Hum Mol Genet 2008 1.23
23 A homozygous PDE6D mutation in Joubert syndrome impairs targeting of farnesylated INPP5E protein to the primary cilium. Hum Mutat 2014 1.21
24 Distinct effects of allelic NFIX mutations on nonsense-mediated mRNA decay engender either a Sotos-like or a Marshall-Smith syndrome. Am J Hum Genet 2010 1.18
25 Gene expression in pharyngeal arch 1 during human embryonic development. Hum Mol Genet 2005 1.16
26 Functional disomy of the Xq28 chromosome region. Eur J Hum Genet 2005 1.15
27 Mutation in IFT80 in a fetus with the phenotype of Verma-Naumoff provides molecular evidence for Jeune-Verma-Naumoff dysplasia spectrum. J Med Genet 2009 1.14
28 Impaired mitochondrial glutamate transport in autosomal recessive neonatal myoclonic epilepsy. Am J Hum Genet 2004 1.13
29 Interstitial 9q22.3 microdeletion: clinical and molecular characterisation of a newly recognised overgrowth syndrome. Eur J Hum Genet 2006 1.11
30 Paternal deletion of the GNAS imprinted locus (including Gnasxl) in two girls presenting with severe pre- and post-natal growth retardation and intractable feeding difficulties. Eur J Hum Genet 2005 1.07
31 Mutations in the planar cell polarity genes CELSR1 and SCRIB are associated with the severe neural tube defect craniorachischisis. Hum Mutat 2011 1.06
32 An excess of chromosome 1 breakpoints in male infertility. Eur J Hum Genet 2004 1.06
33 Matthew-Wood syndrome: report of two new cases supporting autosomal recessive inheritance and exclusion of FGF10 and FGFR2. Am J Med Genet A 2007 1.03
34 Fetal intestinal obstruction induces alteration of enteric nervous system development in human intestinal atresia. Pediatr Res 2004 1.02
35 ISL1 directly regulates FGF10 transcription during human cardiac outflow formation. PLoS One 2012 1.01
36 CLMP is required for intestinal development, and loss-of-function mutations cause congenital short-bowel syndrome. Gastroenterology 2011 0.97
37 Should PMM2-deficiency (CDG Ia) be searched in every case of unexplained hydrops fetalis? Mol Genet Metab 2010 0.97
38 Noradrenergic neuronal development is impaired by mutation of the proneural HASH-1 gene in congenital central hypoventilation syndrome (Ondine's curse). Hum Mol Genet 2003 0.97
39 PAX2 mutations in fetal renal hypodysplasia. Am J Med Genet A 2010 0.96
40 EFTUD2 haploinsufficiency leads to syndromic oesophageal atresia. J Med Genet 2012 0.96
41 Familial interstitial Xq27.3q28 duplication encompassing the FMR1 gene but not the MECP2 gene causes a new syndromic mental retardation condition. Eur J Hum Genet 2009 0.94
42 A 23-year-old woman with Down syndrome, type 1 neurofibromatosis, and breast carcinoma. Am J Med Genet A 2004 0.92
43 Antenatal spectrum of CHARGE syndrome in 40 fetuses with CHD7 mutations. J Med Genet 2012 0.91
44 Expression of the SMADIP1 gene during early human development. Mech Dev 2002 0.90
45 Dissection of the MYCN locus in Feingold syndrome and isolated oesophageal atresia. Eur J Hum Genet 2011 0.89
46 Overgrowth and trisomy 15q26.1-qter including the IGF1 receptor gene: report of two families and review of the literature. Eur J Hum Genet 2002 0.89
47 Failure to detect an 8p22-8p23.1 duplication in patients with Kabuki (Niikawa-Kuroki) syndrome. Eur J Hum Genet 2005 0.88
48 Molecular karyotyping in human constitutional cytogenetics. Eur J Med Genet 2005 0.88
49 Reproductive genetic counselling in non-mosaic 47,XXY patients: implications for preimplantation or prenatal diagnosis: Case report and review. Hum Reprod 2003 0.87
50 Array-based comparative genomic hybridization identifies a high frequency of copy number variations in patients with syndromic overgrowth. Eur J Hum Genet 2009 0.86
51 Molecular characterisation of a prenatally diagnosed 5q15q21.3 deletion and review of the literature. Prenat Diagn 2006 0.85
52 SNPs in the neural cell adhesion molecule 1 gene (NCAM1) may be associated with human neural tube defects. Hum Genet 2005 0.84
53 BBS10 mutations are common in 'Meckel'-type cystic kidneys. J Med Genet 2010 0.84
54 Novel KIF7 mutations extend the phenotypic spectrum of acrocallosal syndrome. J Med Genet 2012 0.84
55 Pure proximal deletion of chromosome 21 and kyphosis. Eur J Med Genet 2007 0.83
56 Cytogenetic and histological features of a human embryo with homogeneous chromosome 8 trisomy. Prenat Diagn 2006 0.82
57 Sodium/iodide symporter (NIS) gene expression is the limiting step for the onset of thyroid function in the human fetus. J Clin Endocrinol Metab 2006 0.82
58 Delineation of EFTUD2 haploinsufficiency-related phenotypes through a series of 36 patients. Hum Mutat 2014 0.81
59 Unusual clinical severity of complement membrane cofactor protein-associated hemolytic-uremic syndrome and uniparental isodisomy. Am J Kidney Dis 2007 0.81
60 Transcriptome profiling of genes involved in neural tube closure during human embryonic development using long serial analysis of gene expression (long-SAGE). Birth Defects Res A Clin Mol Teratol 2012 0.80
61 Refinement of 2q and 7p loci in a large multiplex NTD family. Birth Defects Res A Clin Mol Teratol 2008 0.79
62 Phenotype-genotype correlations in 17 new patients with an Xp11.23p11.22 microduplication and review of the literature. Am J Med Genet A 2014 0.79
63 High-throughput sequencing of a 4.1 Mb linkage interval reveals FLVCR2 deletions and mutations in lethal cerebral vasculopathy. Hum Mutat 2010 0.79
64 Contiguous gene deletion of TBX5 and TBX3 leads to a varible phenotype with combined features of Holt-Oram and ulnar-mammary syndromes. Am J Med Genet A 2013 0.79
65 17q21.31 microdeletion: brain anomalies leading to prenatal diagnosis. Cytogenet Genome Res 2014 0.79
66 Down syndrome patients are less likely to develop some (but not all) malignant solid tumours. Clin Genet 2011 0.78
67 A very rare cancer in Down syndrome: medulloblastoma. Epidemiological data from 13 countries. J Neurooncol 2013 0.78
68 Cytogenetic investigation of a child with a mosaic isochromosome 18q and ring 18q. Eur J Med Genet 2007 0.78
69 Neocortical neuronal arrangement in LIS1 and DCX lissencephaly may be different. Am J Med Genet A 2004 0.77
70 Polyalanine expansions might not result from unequal crossing-over. Hum Mutat 2007 0.77
71 Molecular screening of the ZFHX1B gene in prenatally diagnosed isolated agenesis of the corpus callosum. Prenat Diagn 2004 0.77
72 Identification of the IRXB gene cluster as candidate genes in severe dysgenesis of the ocular anterior segment. Invest Ophthalmol Vis Sci 2010 0.76
73 A tumor profile in Edwards syndrome (trisomy 18). Am J Med Genet C Semin Med Genet 2016 0.76
74 [Trisomy 21: fifty years between medicine and science]. Med Sci (Paris) 2010 0.75
75 [Ten years' experience of preimplantation genetic diagnosis in Paris: remaining obstacles and potential solutions]. Bull Acad Natl Med 2012 0.75
76 The third editor of the Birth Defects Research Journal. Birth Defects Res A Clin Mol Teratol 2013 0.75
77 Birth of healthy female twins after preimplantation genetic diagnosis of cystic fibrosis combined with gender determination. Mol Hum Reprod 2002 0.75
78 Large Duplications Can Be Benign Copy Number Variants: A Case of a 3.6-Mb Xq21.33 Duplication. Cytogenet Genome Res 2017 0.75
79 [HIGH INCIDENCE AND BROAD GENETIC VARIABILITY OF MECKEL-GRUBER SYNDROME IN THE ARAB POPULATION RESIDING IN NORTH-EAST ISRAEL]. Harefuah 2015 0.75
80 CGH analysis in a cohort of 17 chromosomally normal fetuses with an increased nuchal translucency. Prenat Diagn 2003 0.75
81 A practical approach to the examination of the malformed fetal brain: impact on genetic counselling. Pathology 2008 0.75
82 [Preimplantation genetic diagnosis: update of the Parisian group]. Bull Acad Natl Med 2002 0.75
83 [New developments in cytogenetics]. Med Sci (Paris) 2005 0.75
84 A French Approach to Test Fetuses with Ultrasound Abnormalities Using a Customized Microarray as First-Tier Genetic Test. Cytogenet Genome Res 2016 0.75
85 A low-grade follicular thyroid carcinoma in a woman with Down syndrome. Tumori 2004 0.75