PubRank

Annelies de Klein

Author PubWeight™ 68.73‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Domain organization of human chromosomes revealed by mapping of nuclear lamina interactions. Nature 2008 10.95
2 Variegated gene expression caused by cell-specific long-range DNA interactions. Nat Cell Biol 2011 1.63
3 Chromosomal anomalies in the aetiology of oesophageal atresia and tracheo-oesophageal fistula. Eur J Med Genet 2007 1.55
4 Gene expression profiling in uveal melanoma: two regions on 3p related to prognosis. Invest Ophthalmol Vis Sci 2008 1.32
5 Small noncoding differentially methylated copy-number variants, including lncRNA genes, cause a lethal lung developmental disorder. Genome Res 2012 1.26
6 Genome-wide oligonucleotide-based array comparative genome hybridization analysis of non-isolated congenital diaphragmatic hernia. Hum Mol Genet 2007 1.24
7 Mutation of the mouse Rad17 gene leads to embryonic lethality and reveals a role in DNA damage-dependent recombination. EMBO J 2004 1.22
8 Pyrophosphorolysis detects B-RAF mutations in primary uveal melanoma. Invest Ophthalmol Vis Sci 2008 1.18
9 Chromosome 3 intratumor heterogeneity in uveal melanoma. Invest Ophthalmol Vis Sci 2008 1.15
10 Concurrent loss of chromosome arm 1p and chromosome 3 predicts a decreased disease-free survival in uveal melanoma patients. Invest Ophthalmol Vis Sci 2005 1.14
11 Rapid aneuploidy detection with multiplex ligation-dependent probe amplification: a prospective study of 4000 amniotic fluid samples. Eur J Hum Genet 2008 1.13
12 The RAS-BRAF kinase pathway is not involved in uveal melanoma. Melanoma Res 2004 1.12
13 Clinical and cytogenetic analyses in uveal melanoma. Invest Ophthalmol Vis Sci 2006 1.11
14 Clinical geneticists' views of VACTERL/VATER association. Am J Med Genet A 2012 1.08
15 Etiology of esophageal atresia and tracheoesophageal fistula: "mind the gap". Curr Gastroenterol Rep 2010 1.07
16 Mesenchymal stem cells derived from adipose tissue are not affected by renal disease. Kidney Int 2012 1.07
17 Genomic alterations that contribute to the development of isolated and non-isolated congenital diaphragmatic hernia. J Med Genet 2011 1.05
18 Mouse model reveals the role of SOX7 in the development of congenital diaphragmatic hernia associated with recurrent deletions of 8p23.1. Hum Mol Genet 2012 1.02
19 Regional deletion and amplification on chromosome 6 in a uveal melanoma case without abnormalities on chromosomes 1p, 3 and 8. Melanoma Res 2008 0.96
20 Higher percentage of FISH-determined monosomy 3 and 8q amplification in uveal melanoma cells relate to poor patient prognosis. Invest Ophthalmol Vis Sci 2012 0.95
21 Retinol status of newborn infants is associated with congenital diaphragmatic hernia. Pediatrics 2010 0.95
22 5q11.2 deletion in a patient with tracheal agenesis. Eur J Hum Genet 2010 0.93
23 Agenesis of the trachea: phenotypic expression of a rare cause of fatal neonatal respiratory insufficiency in six patients. Int J Pediatr Otorhinolaryngol 2005 0.93
24 Linking animal models to human congenital diaphragmatic hernia. Birth Defects Res A Clin Mol Teratol 2007 0.92
25 Deficiency of FRAS1-related extracellular matrix 1 (FREM1) causes congenital diaphragmatic hernia in humans and mice. Hum Mol Genet 2012 0.92
26 Clinical and genetic analysis of patients with Saethre-Chotzen syndrome. Plast Reconstr Surg 2005 0.91
27 Culture expansion induces non-tumorigenic aneuploidy in adipose tissue-derived mesenchymal stromal cells. Cytotherapy 2013 0.91
28 Low grade mosaic for a complex supernumerary ring chromosome 18 in an adult patient with multiple congenital anomalies. Mol Cytogenet 2010 0.91
29 Detection of genetic prognostic markers in uveal melanoma biopsies using fluorescence in situ hybridization. Clin Cancer Res 2002 0.91
30 Improved molecular diagnostics of idiopathic short stature and allied disorders: quantitative polymerase chain reaction-based copy number profiling of SHOX and pseudoautosomal region 1. J Clin Endocrinol Metab 2010 0.90
31 A familial inverted duplication 2q33-q34 identified and delineated by multiple cytogenetic techniques. Eur J Med Genet 2006 0.90
32 Overexpression of full-length ETV1 transcripts in clinical prostate cancer due to gene translocation. PLoS One 2011 0.89
33 Chemokine receptor CCR7 expression predicts poor outcome in uveal melanoma and relates to liver metastasis whereas expression of CXCR4 is not of clinical relevance. Invest Ophthalmol Vis Sci 2013 0.87
34 MN1 affects expression of genes involved in hematopoiesis and can enhance as well as inhibit RAR/RXR-induced gene expression. Carcinogenesis 2008 0.86
35 Cellular radiosensitivity of primary and metastatic human uveal melanoma cell lines. Invest Ophthalmol Vis Sci 2002 0.86
36 Pulmonary vascular development goes awry in congenital lung abnormalities. Birth Defects Res C Embryo Today 2014 0.85
37 Nutrition and genes in the development of orofacial clefting. Nutr Rev 2006 0.84
38 A genome-wide copy number association study of osteoporotic fractures points to the 6p25.1 locus. J Med Genet 2013 0.84
39 Multiplex ligation-dependent probe amplification equals fluorescence in-situ hybridization for the identification of patients at risk for metastatic disease in uveal melanoma. Melanoma Res 2012 0.84
40 Mapping of homozygous deletions in verified esophageal adenocarcinoma cell lines and xenografts. Genes Chromosomes Cancer 2011 0.83
41 Comparable low-level mosaicism in affected and non affected tissue of a complex CDH patient. PLoS One 2010 0.83
42 Chromosomal instability in meningiomas. J Neuropathol Exp Neurol 2005 0.83
43 Copy number detection in discordant monozygotic twins of Congenital Diaphragmatic Hernia (CDH) and Esophageal Atresia (EA) cohorts. Eur J Hum Genet 2011 0.83
44 Contribution of LPP copy number and sequence changes to esophageal atresia, tracheoesophageal fistula, and VACTERL association. Am J Med Genet A 2012 0.82
45 Histopathologic, immunohistochemical, and cytogenetic analysis of primary clear cell melanoma of the uvea. JAMA Ophthalmol 2013 0.81
46 Histopathologic, immunohistochemical, ultrastructural, and cytogenetic analysis of oncocytic uveal melanoma. Arch Ophthalmol 2011 0.81
47 Dose fractionation effects in primary and metastatic human uveal melanoma cell lines. Invest Ophthalmol Vis Sci 2003 0.81
48 Unbalanced der(5)t(5;20) translocation associated with megalencephaly, perisylvian polymicrogyria, polydactyly and hydrocephalus. Am J Med Genet A 2010 0.81
49 Molecular cytogenetic analysis of archival uveal melanoma with known clinical outcome. Cancer Genet Cytogenet 2008 0.80
50 Esophageal atresia and tracheoesophageal fistula in children of women exposed to diethylstilbestrol in utero. Am J Obstet Gynecol 2007 0.80
51 Genome-wide pathway analysis of folate-responsive genes to unravel the pathogenesis of orofacial clefting in man. Birth Defects Res A Clin Mol Teratol 2008 0.80
52 Genetics of uveal melanoma and cutaneous melanoma: two of a kind? Dermatol Res Pract 2010 0.80
53 Implication of long-distance regulation of the HOXA cluster in a patient with postaxial polydactyly. Chromosome Res 2009 0.79
54 The prognostic value of extraocular extension in relation to monosomy 3 and gain of chromosome 8q in uveal melanoma. Invest Ophthalmol Vis Sci 2014 0.78
55 Postmortem findings and clinicopathological correlation in congenital diaphragmatic hernia. Pediatr Dev Pathol 2004 0.78
56 An Acute Cellular Rejection With Detrimental Outcome Occurring Under Belatacept-Based Immunosuppressive Therapy: An Immunological Analysis. Transplantation 2016 0.78
57 The use of comparative genomic hybridization and fluorescent in situ hybridization in postmortem pathology investigation of congenital malformations. Pediatr Dev Pathol 2010 0.77
58 Complex craniosynostosis is associated with the 2p15p16.1 microdeletion syndrome. Am J Med Genet A 2013 0.77
59 Pain management in intellectually disabled children: Assessment, treatment, and translational research. Dev Disabil Res Rev 2010 0.77
60 Postnatal onset of craniosynostosis in a case of Saethre-Chotzen syndrome. J Craniofac Surg 2004 0.77
61 Increased expression of p73Deltaex2 transcript in uveal melanoma with loss of chromosome 1p. Melanoma Res 2008 0.77
62 Congenital diaphragmatic hernia and a complex heart defect in association with Wolf-Hirschhorn syndrome. Am J Med Genet A 2010 0.76
63 Expression of APITD1 is not related to copy number changes of chromosomal region 1p36 or the prognosis of uveal melanoma. Invest Ophthalmol Vis Sci 2007 0.75
64 Metastatic disease in uveal melanoma: importance of a genetic profile? Melanoma Res 2015 0.75
65 Comparable levels of folate-induced aneusomy in B-lymphoblasts from oral-cleft patients and controls. Mutat Res 2011 0.75
66 A de novo 14q12q13.3 interstitial deletion in a patient affected by a severe neurodevelopmental disorder of unknown origin. Am J Med Genet A 2012 0.75
67 Peptide fingerprinting of folate-responsive proteins in human B lymphoblasts and orofacial clefting. Eur J Clin Invest 2012 0.75
68 Expression of the SST receptor 2 in uveal melanoma is not a prognostic marker. Graefes Arch Clin Exp Ophthalmol 2008 0.75
69 Multiparameter Investigation of a 46,XX/46,XY Tetragametic Chimeric Phenotypical Male Patient with Bilateral Scrotal Ovotestes and Ovulatory Activity. Sex Dev 2017 0.75