PubRank

Lies H Hoefsloot

Author PubWeight™ 80.91‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 GJB2 mutations and degree of hearing loss: a multicenter study. Am J Hum Genet 2005 2.63
2 Mutations in genes encoding subunits of RNA polymerases I and III cause Treacher Collins syndrome. Nat Genet 2010 2.52
3 SDHAF2 mutations in familial and sporadic paraganglioma and phaeochromocytoma. Lancet Oncol 2010 2.42
4 Next-generation genetic testing for retinitis pigmentosa. Hum Mutat 2012 2.30
5 Next-generation sequencing of a 40 Mb linkage interval reveals TSPAN12 mutations in patients with familial exudative vitreoretinopathy. Am J Hum Genet 2010 2.26
6 A post-hoc comparison of the utility of sanger sequencing and exome sequencing for the diagnosis of heterogeneous diseases. Hum Mutat 2013 2.07
7 L1 retrotransposition can occur early in human embryonic development. Hum Mol Genet 2007 2.04
8 The DFNB31 gene product whirlin connects to the Usher protein network in the cochlea and retina by direct association with USH2A and VLGR1. Hum Mol Genet 2006 1.94
9 Identification of 51 novel exons of the Usher syndrome type 2A (USH2A) gene that encode multiple conserved functional domains and that are mutated in patients with Usher syndrome type II. Am J Hum Genet 2004 1.88
10 Exon copy number alterations of the CHD7 gene are not a major cause of CHARGE and CHARGE-like syndrome. Eur J Med Genet 2008 1.77
11 Mutation update on the CHD7 gene involved in CHARGE syndrome. Hum Mutat 2012 1.74
12 Mutations in the pre-replication complex cause Meier-Gorlin syndrome. Nat Genet 2011 1.74
13 Development of a genotyping microarray for Usher syndrome. J Med Genet 2006 1.63
14 CHD8 interacts with CHD7, a protein which is mutated in CHARGE syndrome. Hum Mol Genet 2010 1.41
15 Next-generation sequencing identifies mutations of SMPX, which encodes the small muscle protein, X-linked, as a cause of progressive hearing impairment. Am J Hum Genet 2011 1.40
16 A novel cerebello-ocular syndrome with abnormal glycosylation due to abnormalities in dolichol metabolism. Brain 2010 1.34
17 Genotype-phenotype studies in nail-patella syndrome show that LMX1B mutation location is involved in the risk of developing nephropathy. Eur J Hum Genet 2005 1.32
18 Overview of the mutation spectrum in familial exudative vitreoretinopathy and Norrie disease with identification of 21 novel variants in FZD4, LRP5, and NDP. Hum Mutat 2010 1.31
19 Mutations in the human TBX4 gene cause small patella syndrome. Am J Hum Genet 2004 1.31
20 Clinical and genetic characteristics of late-onset Stargardt's disease. Ophthalmology 2012 1.22
21 SDHAF2 (PGL2-SDH5) and hereditary head and neck paraganglioma. Clin Cancer Res 2011 1.22
22 CYP21 gene mutation analysis in 198 patients with 21-hydroxylase deficiency in The Netherlands: six novel mutations and a specific cluster of four mutations. J Clin Endocrinol Metab 2003 1.20
23 Clinical and molecular evaluation of probands and family members with familial exudative vitreoretinopathy. Invest Ophthalmol Vis Sci 2009 1.20
24 De novo mutations of the gene encoding the histone acetyltransferase KAT6B cause Genitopatellar syndrome. Am J Hum Genet 2012 1.18
25 USH2A mutation analysis in 70 Dutch families with Usher syndrome type II. Hum Mutat 2004 1.13
26 Homozygosity mapping reveals mutations of GRXCR1 as a cause of autosomal-recessive nonsyndromic hearing impairment. Am J Hum Genet 2010 1.11
27 Missense mutations in POU4F3 cause autosomal dominant hearing impairment DFNA15 and affect subcellular localization and DNA binding. Hum Mutat 2008 1.11
28 Mutations in PTPRQ are a cause of autosomal-recessive nonsyndromic hearing impairment DFNB84 and associated with vestibular dysfunction. Am J Hum Genet 2010 1.07
29 Novel types of mutation in the choroideremia ( CHM) gene: a full-length L1 insertion and an intronic mutation activating a cryptic exon. Hum Genet 2003 1.07
30 Familial CHARGE syndrome and the CHD7 gene: a recurrent missense mutation, intrafamilial recurrence and variability. Am J Med Genet A 2008 1.07
31 A novel classification system to predict the pathogenic effects of CHD7 missense variants in CHARGE syndrome. Hum Mutat 2012 1.06
32 Mutations in the calcium-binding motifs of CDH23 and the 35delG mutation in GJB2 cause hearing loss in one family. Hum Genet 2002 1.05
33 Involvement of DFNB59 mutations in autosomal recessive nonsyndromic hearing impairment. Hum Mutat 2007 1.03
34 Meier-Gorlin syndrome genotype-phenotype studies: 35 individuals with pre-replication complex gene mutations and 10 without molecular diagnosis. Eur J Hum Genet 2012 1.01
35 Oculopharyngeal muscular dystrophy with limb girdle weakness as major complaint. J Neurol 2003 0.99
36 Mutations of the gene encoding otogelin are a cause of autosomal-recessive nonsyndromic moderate hearing impairment. Am J Hum Genet 2012 0.99
37 Mutations in the lipoma HMGIC fusion partner-like 5 (LHFPL5) gene cause autosomal recessive nonsyndromic hearing loss. Hum Mutat 2006 0.97
38 The results of CHD7 analysis in clinically well-characterized patients with Kallmann syndrome. J Clin Endocrinol Metab 2012 0.97
39 Genotype-phenotype correlation in DFNB8/10 families with TMPRSS3 mutations. J Assoc Res Otolaryngol 2011 0.96
40 Outcome of ABCA4 microarray screening in routine clinical practice. Mol Vis 2009 0.95
41 Oculopharyngeal muscular dystrophy (OPMD) due to a small duplication in the PABPN1 gene. Hum Mutat 2003 0.95
42 Microcephaly, microtia, preauricular tags, choanal atresia and developmental delay in three unrelated patients: a mandibulofacial dysostosis distinct from Treacher Collins syndrome. Am J Med Genet A 2009 0.95
43 Identification of entire LMX1B gene deletions in nail patella syndrome: evidence for haploinsufficiency as the main pathogenic mechanism underlying dominant inheritance in man. Eur J Hum Genet 2008 0.94
44 The phenotype of Floating-Harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP. Orphanet J Rare Dis 2013 0.93
45 Mutations in the mevalonate kinase (MVK) gene cause nonsyndromic retinitis pigmentosa. Ophthalmology 2013 0.92
46 Hearing loss and connexin 26. J R Soc Med 2002 0.92
47 Identification of a novel COCH mutation, G87W, causing autosomal dominant hearing impairment (DFNA9). Am J Med Genet A 2006 0.92
48 Phenotype description of a novel DFNA9/COCH mutation, I109T. Ann Otol Rhinol Laryngol 2007 0.91
49 Anosmia predicts hypogonadotropic hypogonadism in CHARGE syndrome. J Pediatr 2011 0.89
50 Novel NCC mutants and functional analysis in a new cohort of patients with Gitelman syndrome. Eur J Hum Genet 2011 0.88
51 Histology and synchrotron radiation-based microtomography of the inner ear in a molecularly confirmed case of CHARGE syndrome. Am J Med Genet A 2010 0.87
52 Is routine karyotyping required in prenatal samples with a molecular or metabolic referral? Mol Cytogenet 2012 0.86
53 Heterozygous deep-intronic variants and deletions in ABCA4 in persons with retinal dystrophies and one exonic ABCA4 variant. Hum Mutat 2015 0.86
54 The cardiac phenotype in patients with a CHD7 mutation. Circ Cardiovasc Genet 2013 0.86
55 Molecular genetic analysis of retinitis pigmentosa in Indonesia using genome-wide homozygosity mapping. Mol Vis 2011 0.86
56 Clinical evaluation of 3 families with basal laminar drusen caused by novel mutations in the complement factor H gene. Arch Ophthalmol 2012 0.86
57 Meier-Gorlin syndrome: growth and secondary sexual development of a microcephalic primordial dwarfism disorder. Am J Med Genet A 2012 0.84
58 New TRPC6 gain-of-function mutation in a non-consanguineous Dutch family with late-onset focal segmental glomerulosclerosis. Nephrol Dial Transplant 2013 0.83
59 Hearing impairment in Dutch patients with connexin 26 (GJB2) and connexin 30 (GJB6) mutations. Int J Pediatr Otorhinolaryngol 2005 0.83
60 Clinical characteristics of a Dutch DFNA9 family with a novel COCH mutation, G87W. Audiol Neurootol 2006 0.82
61 A novel homozygous 10 nucleotide deletion in BBS10 causes Bardet-Biedl syndrome in a Pakistani family. Gene 2013 0.81
62 Congenital T cell deficiency in a patient with CHARGE syndrome. J Pediatr 2009 0.81
63 CHD7 mutations are not a major cause of atrioventricular septal and conotruncal heart defects. Am J Med Genet A 2014 0.80
64 Chromosomal region 11p15 is associated with male factor subfertility. Mol Hum Reprod 2003 0.80
65 Distal femoral duplication and fibular agenesis associated with congenital cardiac defect. Indian J Pediatr 2009 0.80
66 Phenotypes of two Dutch DFNA3 families with mutations in GJB2. Ann Otol Rhinol Laryngol 2011 0.79
67 Osteoporotic vertebral fractures during pregnancy: be aware of a potential underlying genetic cause. J Clin Endocrinol Metab 2014 0.79
68 TBX4 mutations (small patella syndrome) are associated with childhood-onset pulmonary arterial hypertension. J Med Genet 2013 0.79
69 Buccal cell FISH and blood PCR-Y detect high rates of X chromosomal mosaicism and Y chromosomal derivatives in patients with Turner syndrome. Eur J Med Genet 2013 0.77
70 Two sibs with Bardet-Biedl syndrome due to mutations in BBS12: no clues for modulation by a third mutation in BBS10. Am J Med Genet A 2010 0.75
71 Molecular studies of the CHD7 gene: an obligatory diagnostic step in an expanding range of clinical phenotypes. Expert Rev Mol Diagn 2012 0.75
72 Molecular diagnosis of hereditary hearing impairment. Adv Otorhinolaryngol 2002 0.75
73 Longitudinal phenotypic analysis in patients with connexin 26 (GJB2) (DFNB1) and connexin 30 (GJB6) mutations. Ann Otol Rhinol Laryngol 2004 0.75