PubRank

Vera Kalscheuer

Author PubWeight™ 57.87‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Deep sequencing reveals 50 novel genes for recessive cognitive disorders. Nature 2011 4.85
2 Germline KRAS mutations cause Noonan syndrome. Nat Genet 2006 4.48
3 Mapping translocation breakpoints by next-generation sequencing. Genome Res 2008 2.73
4 ARX, a novel Prd-class-homeobox gene highly expressed in the telencephalon, is mutated in X-linked mental retardation. Hum Mol Genet 2002 2.30
5 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
6 Characterization of a 5.3 Mb deletion in 15q14 by comparative genomic hybridization using a whole genome "tiling path" BAC array in a girl with heart defect, cleft palate, and developmental delay. Am J Med Genet A 2007 1.80
7 Modeling read counts for CNV detection in exome sequencing data. Stat Appl Genet Mol Biol 2011 1.55
8 Mutation screening in 86 known X-linked mental retardation genes by droplet-based multiplex PCR and massive parallel sequencing. Hugo J 2010 1.50
9 WDR11, a WD protein that interacts with transcription factor EMX1, is mutated in idiopathic hypogonadotropic hypogonadism and Kallmann syndrome. Am J Hum Genet 2010 1.49
10 Transcription factor SOX3 is involved in X-linked mental retardation with growth hormone deficiency. Am J Hum Genet 2002 1.45
11 The epsilon-sarcoglycan gene (SGCE), mutated in myoclonus-dystonia syndrome, is maternally imprinted. Eur J Hum Genet 2003 1.36
12 Nonsyndromic X-linked mental retardation: where are the missing mutations? Trends Genet 2003 1.30
13 Mutations at the mouse ichthyosis locus are within the lamin B receptor gene: a single gene model for human Pelger-Huët anomaly. Hum Mol Genet 2003 1.22
14 Regulation of the MID1 protein function is fine-tuned by a complex pattern of alternative splicing. Hum Genet 2004 1.12
15 Disruptions of the novel KIAA1202 gene are associated with X-linked mental retardation. Hum Genet 2005 1.10
16 An excess of chromosome 1 breakpoints in male infertility. Eur J Hum Genet 2004 1.06
17 Chromosome deletions in 13q33-34: report of four patients and review of the literature. Am J Med Genet A 2008 1.05
18 Mild phenotypes in a series of patients with Opitz GBBB syndrome with MID1 mutations. Am J Med Genet A 2005 1.04
19 Integrative analysis revealed the molecular mechanism underlying RBM10-mediated splicing regulation. EMBO Mol Med 2013 1.01
20 Duplication of the MID1 first exon in a patient with Opitz G/BBB syndrome. Hum Genet 2003 0.96
21 Characterization of a 16 Mb interstitial chromosome 7q21 deletion by tiling path array CGH. Am J Med Genet A 2007 0.94
22 Multiple giant cell lesions in patients with Noonan syndrome and cardio-facio-cutaneous syndrome. Eur J Hum Genet 2008 0.94
23 A Y328C missense mutation in spermine synthase causes a mild form of Snyder-Robinson syndrome. Hum Mol Genet 2013 0.91
24 Mutations in SLC33A1 cause a lethal autosomal-recessive disorder with congenital cataracts, hearing loss, and low serum copper and ceruloplasmin. Am J Hum Genet 2012 0.91
25 Small inherited terminal duplication of 7q with hydrocephalus, cleft palate, joint contractures, and severe hypotonia. Clin Dysmorphol 2003 0.90
26 Inv(X)(p21.1;q22.1) in a man with mental retardation, short stature, general muscle wasting, and facial dysmorphism: clinical study and mutation analysis of the NXF5 gene. Am J Med Genet A 2003 0.89
27 TRPV1 acts as a synaptic protein and regulates vesicle recycling. J Cell Sci 2010 0.89
28 Genomic structure, chromosome mapping and expression analysis of the human AVIL gene, and its exclusion as a candidate for locus for inflammatory bowel disease at 12q13-14 (IBD2). Gene 2002 0.88
29 Characterization of FBX25, encoding a novel brain-expressed F-box protein. Biochim Biophys Acta 2005 0.87
30 Haplotype sharing analysis identifies a retroviral dUTPase as candidate susceptibility gene for psoriasis. J Invest Dermatol 2005 0.87
31 A new standard nomenclature for proteins related to Apx and Shroom. BMC Cell Biol 2006 0.87
32 Molecular cytogenetic analysis of a de novo interstitial deletion of 5q23.3q31.2 and its phenotypic consequences. Am J Med Genet A 2006 0.86
33 A region on human chromosome 4 (q35.1-->qter) induces senescence in cell hybrids and is involved in cervical carcinogenesis. Genes Chromosomes Cancer 2005 0.85
34 Subtelomere FISH in 50 children with mental retardation and minor anomalies, identified by a checklist, detects 10 rearrangements including a de novo balanced translocation of chromosomes 17p13.3 and 20q13.33. Am J Med Genet A 2004 0.85
35 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
36 Interstitial deletion 9q22.32-q33.2 associated with additional familial translocation t(9;17)(q34.11;p11.2) in a patient with Gorlin-Goltz syndrome and features of Nail-Patella syndrome. Am J Med Genet A 2004 0.83
37 Heterotaxy and cardiac defect in a girl with chromosome translocation t(X;1)(q26;p13.1) and involvement of ZIC3. Eur J Hum Genet 2006 0.82
38 Characterization of an interstitial 4q32 deletion in a patient with mental retardation and a complex chromosome rearrangement. Am J Med Genet A 2010 0.82
39 Exonic microdeletions in the X-linked PQBP1 gene in mentally retarded patients: a pathogenic mutation and in-frame deletions of uncertain effect. Eur J Hum Genet 2006 0.82
40 Molecular cytogenetic analysis of a de novo interstitial chromosome 10q22 deletion. Am J Med Genet A 2006 0.81
41 Further delineation of the phenotype maps for partial trisomy 16q24 and Jacobsen syndrome by a subtle familial translocation t(11;16)(q24.2;q24.1). Am J Med Genet A 2005 0.80
42 MECP2 gene mutations in non-syndromic X-linked mental retardation: phenotype-genotype correlation. Am J Med Genet A 2003 0.80
43 Noonan-like/multiple giant cell lesion syndrome in two adult patients with SOS1 gene mutations. Clin Dysmorphol 2010 0.79
44 Erratum to: Mutation screening in 86 known X-linked mental retardation genes by droplet-based multiplex PCR and massive parallel sequencing. Hugo J 2010 0.78
45 Evaluation of the IRF-2 gene as a candidate for PSORS3. J Invest Dermatol 2004 0.78
46 Familial MCA/MR syndrome due to inherited submicroscopic translocation t(18;21)(q22.1q21.3) with breakpoint at the Down syndrome critical region. Am J Med Genet A 2003 0.78
47 First report of a partial trisomy 3q12-q23 de novo--FISH breakpoint determination and phenotypic characterization. Eur J Med Genet 2005 0.78
48 Comprehensive analysis of human subtelomeres with combined binary ratio labelling fluorescence in situ hybridisation. Eur J Hum Genet 2003 0.75
49 Blepharophimosis-ptosis-epicanthus inversus syndrome in a girl with chromosome translocation t(2;3)(q33;q23). Ophthalmic Genet 2008 0.75
50 [Exome sequencing revealed Allan-Herndon-Dudley syndrome underlying multiple disabilities]. Duodecim 2014 0.75