PubRank

Bernhard Horsthemke

Author PubWeight™ 65.91‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Key susceptibility locus for nonsyndromic cleft lip with or without cleft palate on chromosome 8q24. Nat Genet 2009 3.58
2 Intracytoplasmic sperm injection may increase the risk of imprinting defects. Am J Hum Genet 2002 3.34
3 Tumor classification based on gene expression profiling shows that uveal melanomas with and without monosomy 3 represent two distinct entities. Cancer Res 2003 2.18
4 Exome sequencing identifies recurrent somatic mutations in EIF1AX and SF3B1 in uveal melanoma with disomy 3. Nat Genet 2013 2.05
5 The human retinoblastoma gene is imprinted. PLoS Genet 2009 1.63
6 Exclusion of the C/D box snoRNA gene cluster HBII-52 from a major role in Prader-Willi syndrome. Hum Genet 2004 1.60
7 A paternal deletion of MKRN3, MAGEL2 and NDN does not result in Prader-Willi syndrome. Eur J Hum Genet 2008 1.49
8 The obesity-associated SNPs in intron 1 of the FTO gene affect primary transcript levels. Eur J Hum Genet 2010 1.45
9 Massive parallel bisulfite sequencing of CG-rich DNA fragments reveals that methylation of many X-chromosomal CpG islands in female blood DNA is incomplete. Hum Mol Genet 2009 1.34
10 Epimutations in Prader-Willi and Angelman syndromes: a molecular study of 136 patients with an imprinting defect. Am J Hum Genet 2003 1.29
11 Syndrome identification based on 2D analysis software. Eur J Hum Genet 2006 1.22
12 Clinical features of maternal uniparental disomy 14 in patients with an epimutation and a deletion of the imprinted DLK1/GTL2 gene cluster. Hum Mutat 2008 1.17
13 Genetic determination of human facial morphology: links between cleft-lips and normal variation. Eur J Hum Genet 2011 1.17
14 Nuclear interaction of the dynein light chain LC8a with the TRPS1 transcription factor suppresses the transcriptional repression activity of TRPS1. Hum Mol Genet 2003 1.17
15 The molecular function and clinical phenotype of partial deletions of the IGF2/H19 imprinting control region depends on the spatial arrangement of the remaining CTCF-binding sites. Hum Mol Genet 2012 1.16
16 Novel missense mutations in the TRPS1 transcription factor define the nuclear localization signal. Eur J Hum Genet 2004 1.16
17 An Alu element-associated hypermethylation variant of the POMC gene is associated with childhood obesity. PLoS Genet 2012 1.07
18 Low frequency of imprinting defects in ICSI children born small for gestational age. Eur J Hum Genet 2008 1.05
19 IGF2/H19 hypomethylation in Silver-Russell syndrome and isolated hemihypoplasia. Eur J Hum Genet 2008 1.01
20 Reproduction abnormalities and twin pregnancies in parents of sporadic patients with oculo-auriculo-vertebral spectrum/Goldenhar syndrome. Hum Genet 2007 1.00
21 Maintenance of imprinting and nuclear architecture in cycling cells. Proc Natl Acad Sci U S A 2007 1.00
22 SNURF-SNRPN and UBE3A transcript levels in patients with Angelman syndrome. Hum Genet 2004 1.00
23 FTO levels affect RNA modification and the transcriptome. Eur J Hum Genet 2012 1.00
24 The RING finger protein RNF4, a co-regulator of transcription, interacts with the TRPS1 transcription factor. J Biol Chem 2003 0.99
25 Somatic mosaicism in patients with Angelman syndrome and an imprinting defect. Hum Mol Genet 2004 0.97
26 C15orf2 and a novel noncoding transcript from the Prader-Willi/Angelman syndrome region show monoallelic expression in fetal brain. Genomics 2007 0.96
27 A variant allele of Growth Factor Independence 1 (GFI1) is associated with acute myeloid leukemia. Blood 2010 0.96
28 Deep bisulfite sequencing of aberrantly methylated loci in a patient with multiple methylation defects. PLoS One 2013 0.95
29 Loss of heterozygosity of 1p in uveal melanomas with monosomy 3. Int J Cancer 2005 0.94
30 Genomic gains on chromosome 1q in retinoblastoma: consequences on gene expression and association with clinical manifestation. Int J Cancer 2005 0.94
31 Altered development of NKT cells, γδ T cells, CD8 T cells and NK cells in a PLZF deficient patient. PLoS One 2011 0.92
32 Histone acetylation dependent allelic expression imbalance of BAPX1 in patients with the oculo-auriculo-vertebral spectrum. Hum Mol Genet 2006 0.92
33 Impact of geometry and viewing angle on classification accuracy of 2D based analysis of dysmorphic faces. Eur J Med Genet 2007 0.91
34 Genetic aspects of familial Ménière's disease. Otol Neurotol 2011 0.90
35 Light optical precision measurements of the active and inactive Prader-Willi syndrome imprinted regions in human cell nuclei. Differentiation 2007 0.90
36 The imprinted NPAP1/C15orf2 gene in the Prader-Willi syndrome region encodes a nuclear pore complex associated protein. Hum Mol Genet 2012 0.89
37 Computer-based recognition of dysmorphic faces. Eur J Hum Genet 2003 0.89
38 Imprinting of RB1 (the new kid on the block). Brief Funct Genomics 2010 0.89
39 Coronary artery calcification and its relationship to validated genetic variants for diabetes mellitus assessed in the Heinz Nixdorf recall cohort. Arterioscler Thromb Vasc Biol 2010 0.88
40 Automated syndrome detection in a set of clinical facial photographs. Am J Med Genet A 2011 0.87
41 Identification of cis- and trans-acting factors possibly modifying the risk of epimutations on chromosome 15. Eur J Hum Genet 2006 0.87
42 The C15orf2 gene in the Prader-Willi syndrome region is subject to genomic imprinting and positive selection. Neurogenetics 2009 0.86
43 Expression of SNURF-SNRPN upstream transcripts and epigenetic regulatory genes during human spermatogenesis. Eur J Hum Genet 2009 0.86
44 Minimal phenotype in a girl with trisomy 15q due to t(X;15)(q22.3;q11.2) translocation. Am J Med Genet A 2006 0.85
45 Methylation analysis of several tumour suppressor genes shows a low frequency of methylation of CDKN2A and RARB in uveal melanomas. Comp Funct Genomics 2003 0.85
46 Hormone-induced delayed ovulation affects early embryonic development. Fertil Steril 2011 0.85
47 Human PPP1R26P1 functions as cis-repressive element in mouse Rb1. PLoS One 2013 0.83
48 EFS shows biallelic methylation in uveal melanoma with poor prognosis as well as tissue-specific methylation. BMC Cancer 2011 0.83
49 Altering TET dioxygenase levels within physiological range affects DNA methylation dynamics of HEK293 cells. Epigenetics 2015 0.83
50 Heritable germline epimutations in humans. Nat Genet 2007 0.82
51 Rhythm is not enough. Nat Genet 2007 0.81
52 Parental diabetes: the Akita mouse as a model of the effects of maternal and paternal hyperglycemia in wildtype offspring. PLoS One 2012 0.81
53 The origin of the RB1 imprint. PLoS One 2013 0.80
54 Aging of Xenopus tropicalis eggs leads to deadenylation of a specific set of maternal mRNAs and loss of developmental potential. PLoS One 2010 0.80
55 The imprinted NPAP1 gene in the Prader-Willi syndrome region belongs to a POM121-related family of retrogenes. Genome Biol Evol 2014 0.80
56 An unbalanced translocation unmasks a recessive mutation in the follicle-stimulating hormone receptor (FSHR) gene and causes FSH resistance. Eur J Hum Genet 2010 0.79
57 Problems in detecting mosaic DNA methylation in Angelman syndrome. Eur J Hum Genet 2003 0.79
58 Mosaic imprinting defect in a patient with an almost typical expression of the Prader-Willi syndrome. Eur J Hum Genet 2005 0.77
59 Waddington's epigenetic landscape and post-Darwinian biology. Bioessays 2012 0.76
60 Comment on: Jowett et al. (2010) Genetic variation at the FTO locus influences RBL2 gene expression. Diabetes;59:726-732. Diabetes 2010 0.75
61 Minimal region of deletion on chromosomal arm 3p25.1-p25.2 in uveal melanoma. Cancer Res 2005 0.75