PubRank

Hilde Van Esch

Author PubWeight™ 69.24‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation. Nat Genet 2009 8.30
2 Mutations in the JARID1C gene, which is involved in transcriptional regulation and chromatin remodeling, cause X-linked mental retardation. Am J Hum Genet 2004 2.99
3 Mutations in the small GTPase gene RAB39B are responsible for X-linked mental retardation associated with autism, epilepsy, and macrocephaly. Am J Hum Genet 2010 1.87
4 Nonrecurrent MECP2 duplications mediated by genomic architecture-driven DNA breaks and break-induced replication repair. Genome Res 2008 1.81
5 Submicroscopic duplications of the hydroxysteroid dehydrogenase HSD17B10 and the E3 ubiquitin ligase HUWE1 are associated with mental retardation. Am J Hum Genet 2008 1.80
6 Detection of genomic copy number changes in patients with idiopathic mental retardation by high-resolution X-array-CGH: important role for increased gene dosage of XLMR genes. Hum Mutat 2007 1.79
7 Mutations in the X-linked cyclin-dependent kinase-like 5 (CDKL5/STK9) gene are associated with severe neurodevelopmental retardation. Am J Hum Genet 2004 1.78
8 Mutation frequencies of X-linked mental retardation genes in families from the EuroMRX consortium. Hum Mutat 2007 1.68
9 KIF1A, an axonal transporter of synaptic vesicles, is mutated in hereditary sensory and autonomic neuropathy type 2. Am J Hum Genet 2011 1.66
10 X chromosome array-CGH for the identification of novel X-linked mental retardation genes. Eur J Med Genet 2005 1.47
11 Paroxysmal exercise-induced dyskinesia and epilepsy is due to mutations in SLC2A1, encoding the glucose transporter GLUT1. Brain 2008 1.41
12 Evidence for increased SOX3 dosage as a risk factor for X-linked hypopituitarism and neural tube defects. Am J Med Genet A 2014 1.39
13 Functional characterization of GATA3 mutations causing the hypoparathyroidism-deafness-renal (HDR) dysplasia syndrome: insight into mechanisms of DNA binding by the GATA3 transcription factor. Hum Mol Genet 2007 1.36
14 Structural variation in Xq28: MECP2 duplications in 1% of patients with unexplained XLMR and in 2% of male patients with severe encephalopathy. Eur J Hum Genet 2008 1.34
15 Mutations in NOTCH2 in families with Hajdu-Cheney syndrome. Hum Mutat 2011 1.25
16 Genetic screening of LCA in Belgium: predominance of CEP290 and identification of potential modifier alleles in AHI1 of CEP290-related phenotypes. Hum Mutat 2010 1.21
17 Neuroanatomical distribution of ARX in brain and its localisation in GABAergic neurons. Brain Res Mol Brain Res 2004 1.19
18 Subtelomeric deletion of chromosome 10p15.3: clinical findings and molecular cytogenetic characterization. Am J Med Genet A 2012 1.15
19 Network analysis of differential expression for the identification of disease-causing genes. PLoS One 2009 1.14
20 Revisiting the phenotype associated with FOXG1 mutations: two novel cases of congenital Rett variant. Neurogenetics 2009 1.13
21 Dosage-dependent severity of the phenotype in patients with mental retardation due to a recurrent copy-number gain at Xq28 mediated by an unusual recombination. Am J Hum Genet 2009 1.11
22 Phenotypic spectrum associated with CASK loss-of-function mutations. J Med Genet 2011 1.11
23 Mutations in the intellectual disability gene Ube2a cause neuronal dysfunction and impair parkin-dependent mitophagy. Mol Cell 2013 1.06
24 Haploinsufficiency of ANKRD11 causes mild cognitive impairment, short stature and minor dysmorphisms. Eur J Hum Genet 2011 1.03
25 Increased dosage of RAB39B affects neuronal development and could explain the cognitive impairment in male patients with distal Xq28 copy number gains. Hum Mutat 2014 1.02
26 Focal segmental glomerulosclerosis in patients with mandibuloacral dysplasia owing to ZMPSTE24 deficiency. J Investig Med 2006 1.00
27 MCT8 mutation analysis and identification of the first female with Allan-Herndon-Dudley syndrome due to loss of MCT8 expression. Eur J Hum Genet 2008 1.00
28 Early myoclonic encephalopathy caused by a disruption of the neuregulin-1 receptor ErbB4. Eur J Hum Genet 2008 0.94
29 Loss of SLC38A5 and FTSJ1 at Xp11.23 in three brothers with non-syndromic mental retardation due to a microdeletion in an unstable genomic region. Hum Genet 2007 0.93
30 A Y328C missense mutation in spermine synthase causes a mild form of Snyder-Robinson syndrome. Hum Mol Genet 2013 0.91
31 The location of DCX mutations predicts malformation severity in X-linked lissencephaly. Neurogenetics 2008 0.89
32 PPP2R2C, a gene disrupted in autosomal dominant intellectual disability. Eur J Med Genet 2010 0.89
33 Duplications of the critical Rubinstein-Taybi deletion region on chromosome 16p13.3 cause a novel recognisable syndrome. J Med Genet 2009 0.88
34 Early frameshift mutation in PIGA identified in a large XLID family without neonatal lethality. Hum Mutat 2014 0.87
35 X-exome sequencing in Finnish families with intellectual disability--four novel mutations and two novel syndromic phenotypes. Orphanet J Rare Dis 2014 0.86
36 Haploinsufficiency of the gene Quaking (QKI) is associated with the 6q terminal deletion syndrome. Am J Med Genet A 2010 0.85
37 HUWE1 mutation explains phenotypic severity in a case of familial idiopathic intellectual disability. Eur J Med Genet 2013 0.85
38 Recurrent mutations in the CDKL5 gene: genotype-phenotype relationships. Am J Med Genet A 2012 0.85
39 Mutation screening of ASMT, the last enzyme of the melatonin pathway, in a large sample of patients with intellectual disability. BMC Med Genet 2011 0.84
40 NF-κB signalling requirement for brain myelin formation is shown by genotype/MRI phenotype correlations in patients with Xq28 duplications. Eur J Hum Genet 2012 0.84
41 2q31.1 microdeletion syndrome: redefining the associated clinical phenotype. J Med Genet 2010 0.84
42 The mitochondrial solute carrier SLC25A5 at Xq24 is a novel candidate gene for non-syndromic intellectual disability. Hum Genet 2013 0.83
43 Partial duplications of the ATRX gene cause the ATR-X syndrome. Eur J Hum Genet 2007 0.83
44 Two novel deletions in hypotonia-cystinuria syndrome. Mol Genet Metab 2012 0.82
45 Duplications of 17q12 can cause familial fever-related epilepsy syndromes. Neurology 2013 0.81
46 BMPR1A is a candidate gene for congenital heart defects associated with the recurrent 10q22q23 deletion syndrome. Eur J Med Genet 2011 0.81
47 Isolated terminal limb reduction defects: extending the clinical spectrum of Adams-Oliver syndrome and ARHGAP31 mutations. Am J Med Genet A 2014 0.80
48 Complex genetics of radial ray deficiencies: screening of a cohort of 54 patients. Genet Med 2012 0.79
49 Ethical signposts for clinical geneticists in secondary variant and incidental finding disclosure discussions. Med Health Care Philos 2015 0.79
50 Bronchiectasis and immune deficiency in an adult patient with deletion 2q37 due to an unbalanced translocation t(2;10). Eur J Med Genet 2009 0.79
51 Circumferential skin creases, cleft palate, typical face, intellectual disability and growth delay: "circumferential skin creases Kunze type". Eur J Med Genet 2011 0.78
52 Infectious and immunologic phenotype of MECP2 duplication syndrome. J Clin Immunol 2015 0.78
53 Should we screen for FMR1 premutations in female subjects presenting with ataxia? Ann Neurol 2005 0.78
54 A new chromosome x exon-specific microarray platform for screening of patients with X-linked disorders. J Mol Diagn 2009 0.77
55 Screening of 20 patients with X-linked mental retardation using chromosome X-specific array-MAPH. Eur J Med Genet 2007 0.77
56 Conradi-Hünermann-Happle syndrome: a novel heterozygous missense mutation, c.204G>T (p.W68C). Pediatr Dermatol 2014 0.76
57 First trimester prenatal diagnosis of 13q-syndrome presenting with increased nuchal translucency, Dandy-Walker malformation and small parietal encephalocoele. Prenat Diagn 2008 0.76
58 Direct fluorescent labelling of clones by DOP PCR. Mol Cytogenet 2008 0.75
59 Prenatal diagnosis of MPPH syndrome. Prenat Diagn 2013 0.75
60 Corrigendum: Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts. Nat Genet 2017 0.75