PubRank

E R Maher

Author PubWeight™ 228.35‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 The tumour suppressor protein VHL targets hypoxia-inducible factors for oxygen-dependent proteolysis. Nature 1999 23.45
2 Hypoxia inducible factor-alpha binding and ubiquitylation by the von Hippel-Lindau tumor suppressor protein. J Biol Chem 2000 5.58
3 Gene mutations in the succinate dehydrogenase subunit SDHB cause susceptibility to familial pheochromocytoma and to familial paraganglioma. Am J Hum Genet 2001 4.71
4 A maternally methylated CpG island in KvLQT1 is associated with an antisense paternal transcript and loss of imprinting in Beckwith-Wiedemann syndrome. Proc Natl Acad Sci U S A 1999 3.37
5 Use of prenatal chromosomal microarray: prospective cohort study and systematic review and meta-analysis. Ultrasound Obstet Gynecol 2013 3.28
6 Clinical features and natural history of Beckwith-Wiedemann syndrome: presentation of 74 new cases. Clin Genet 1994 3.04
7 Germline mutations in the Von Hippel-Lindau disease (VHL) gene in families from North America, Europe, and Japan. Hum Mutat 1996 2.80
8 Phenocopies in BRCA1 and BRCA2 families: evidence for modifier genes and implications for screening. J Med Genet 2006 2.68
9 Contrasting effects on HIF-1alpha regulation by disease-causing pVHL mutations correlate with patterns of tumourigenesis in von Hippel-Lindau disease. Hum Mol Genet 2001 2.56
10 Beckwith-Wiedemann syndrome and assisted reproduction technology (ART). J Med Genet 2003 2.48
11 Germline E-cadherin gene (CDH1) mutations predispose to familial gastric cancer and colorectal cancer. Hum Mol Genet 1999 2.41
12 Familial gastric cancer: overview and guidelines for management. J Med Genet 1999 2.38
13 Inactivation of the von Hippel-Lindau (VHL) tumour suppressor gene and allelic losses at chromosome arm 3p in primary renal cell carcinoma: evidence for a VHL-independent pathway in clear cell renal tumourigenesis. Genes Chromosomes Cancer 1998 2.27
14 Imprinting mutations in the Beckwith-Wiedemann syndrome suggested by altered imprinting pattern in the IGF2-H19 domain. Hum Mol Genet 1995 2.27
15 Methylation associated inactivation of RASSF1A from region 3p21.3 in lung, breast and ovarian tumours. Oncogene 2001 2.22
16 Constitutive activation of hypoxia-inducible genes related to overexpression of hypoxia-inducible factor-1alpha in clear cell renal carcinomas. Cancer Res 2001 2.12
17 Imprinting in clusters: lessons from Beckwith-Wiedemann syndrome. Trends Genet 1997 2.01
18 Frequent 3p allele loss and epigenetic inactivation of the RASSF1A tumour suppressor gene from region 3p21.3 in head and neck squamous cell carcinoma. Eur J Cancer 2002 1.95
19 The VHL tumour-suppressor gene paradigm. Trends Genet 1998 1.94
20 Additional information from array comparative genomic hybridization technology over conventional karyotyping in prenatal diagnosis: a systematic review and meta-analysis. Ultrasound Obstet Gynecol 2011 1.85
21 Consequences of direct genetic testing for germline mutations in the clinical management of families with multiple endocrine neoplasia, type II. JAMA 1995 1.83
22 Frequent loss of PTEN expression is linked to elevated phosphorylated Akt levels, but not associated with p27 and cyclin D1 expression, in primary epithelial ovarian carcinomas. Am J Pathol 2001 1.82
23 The genetics of paragangliomas: a review. Clin Otolaryngol 2007 1.77
24 Analysis of germline CDKN1C (p57KIP2) mutations in familial and sporadic Beckwith-Wiedemann syndrome (BWS) provides a novel genotype-phenotype correlation. J Med Genet 1999 1.74
25 Genome-wide methylation analysis identifies epigenetically inactivated candidate tumour suppressor genes in renal cell carcinoma. Oncogene 2010 1.69
26 Silencing of CDKN1C (p57KIP2) is associated with hypomethylation at KvDMR1 in Beckwith-Wiedemann syndrome. J Med Genet 2003 1.68
27 Beckwith-Wiedemann syndrome. J Med Genet 1994 1.67
28 Clinical characteristics of ocular angiomatosis in von Hippel-Lindau disease and correlation with germline mutation. Arch Ophthalmol 1999 1.64
29 Germline SDHD mutation in familial phaeochromocytoma. Lancet 2001 1.62
30 A genetic register for von Hippel-Lindau disease. J Med Genet 1996 1.61
31 Phenotypic spectrum of neurodegeneration associated with mutations in the PLA2G6 gene (PLAN). Neurology 2008 1.60
32 Familial infiltrative fibromatosis (desmoid tumours) (MIM135290) caused by a recurrent 3' APC gene mutation. Hum Mol Genet 1996 1.57
33 Imprinting mutation in the Beckwith-Wiedemann syndrome leads to biallelic IGF2 expression through an H19-independent pathway. Hum Mol Genet 1996 1.57
34 The clinical features and natural history of the Steele-Richardson-Olszewski syndrome (progressive supranuclear palsy). Neurology 1986 1.55
35 Imprinting of IGF2 and H19: lack of reciprocity in sporadic Beckwith-Wiedemann syndrome. Hum Mol Genet 1997 1.54
36 Somatic inactivation of the VHL gene in Von Hippel-Lindau disease tumors. Am J Hum Genet 1997 1.54
37 Identification of candidate tumour suppressor genes frequently methylated in renal cell carcinoma. Oncogene 2010 1.52
38 Epigenotype-phenotype correlations in Beckwith-Wiedemann syndrome. J Med Genet 2000 1.51
39 Molecular genetic tests in surgical management of familial adenomatous polyposis. Lancet 1997 1.50
40 Recurrent germline mutation in MSH2 arises frequently de novo. J Med Genet 2000 1.49
41 Syntenic organization of the mouse distal chromosome 7 imprinting cluster and the Beckwith-Wiedemann syndrome region in chromosome 11p15.5. Hum Mol Genet 1998 1.49
42 Assisted reproductive therapies and imprinting disorders--a preliminary British survey. Hum Reprod 2005 1.48
43 Mapping of a novel locus for achromatopsia (ACHM4) to 1p and identification of a germline mutation in the alpha subunit of cone transducin (GNAT2). J Med Genet 2002 1.44
44 Achromatopsia caused by novel mutations in both CNGA3 and CNGB3. J Med Genet 2004 1.44
45 Epigenetic inactivation of SLIT3 and SLIT1 genes in human cancers. Br J Cancer 2004 1.42
46 Dialysis amyloid presenting as acute arthritis. Nephron 1988 1.40
47 Risk of cancer other than breast or ovarian in individuals with BRCA1 and BRCA2 mutations. Fam Cancer 2012 1.39
48 Epigenetic alteration at the DLK1-GTL2 imprinted domain in human neoplasia: analysis of neuroblastoma, phaeochromocytoma and Wilms' tumour. Br J Cancer 2005 1.39
49 Epigenetic inactivation of the RASSF1A 3p21.3 tumor suppressor gene in both clear cell and papillary renal cell carcinoma. Cancer Res 2001 1.35
50 The pVHL-associated SCF ubiquitin ligase complex: molecular genetic analysis of elongin B and C, Rbx1 and HIF-1alpha in renal cell carcinoma. Oncogene 2001 1.34
51 Methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA) robustly detects and distinguishes 11p15 abnormalities associated with overgrowth and growth retardation. J Med Genet 2007 1.30
52 Atherosclerotic renovascular disease causing renal impairment--a case for treatment. Clin Nephrol 1989 1.28
53 Mosaic uniparental disomy in Beckwith-Wiedemann syndrome. J Med Genet 1994 1.28
54 Molecular genetic diagnosis of von Hippel-Lindau disease in familial phaeochromocytoma. J Med Genet 1995 1.26
55 Molecular analysis of de novo germline mutations in the von Hippel-Lindau disease gene. Hum Mol Genet 1995 1.25
56 Epigenotype-phenotype correlations in Silver-Russell syndrome. J Med Genet 2010 1.24
57 Functional epigenomics approach to identify methylated candidate tumour suppressor genes in renal cell carcinoma. Br J Cancer 2008 1.23
58 Expression of the von Hippel-Lindau disease tumour suppressor gene during human embryogenesis. Hum Mol Genet 1996 1.23
59 Mononucleotide microsatellite instability and germline MSH6 mutation analysis in early onset colorectal cancer. J Med Genet 1999 1.23
60 A common MSH2 mutation in English and North American HNPCC families: origin, phenotypic expression, and sex specific differences in colorectal cancer. J Med Genet 1999 1.21
61 Epigenetic modification and uniparental inheritance of H19 in Beckwith-Wiedemann syndrome. J Med Genet 1997 1.18
62 Molecular genetic analysis of von Hippel-Lindau disease. J Intern Med 1998 1.17
63 Uptake of genetic testing for cancer predisposition. J Med Genet 1997 1.16
64 Genetic predisposition to phaeochromocytoma: analysis of candidate genes GDNF, RET and VHL. Hum Mol Genet 1997 1.15
65 Intrapericardial installation of bleomycin in malignant pericardial effusion. Am Heart J 1986 1.14
66 SDHB-associated renal oncocytoma suggests a broadening of the renal phenotype in hereditary paragangliomatosis. Fam Cancer 2009 1.14
67 Epigenetic analysis of HIC1, CASP8, FLIP, TSP1, DCR1, DCR2, DR4, DR5, KvDMR1, H19 and preferential 11p15.5 maternal-allele loss in von Hippel-Lindau and sporadic phaeochromocytomas. Endocr Relat Cancer 2005 1.14
68 RASSF1A promoter region CpG island hypermethylation in phaeochromocytomas and neuroblastoma tumours. Oncogene 2001 1.12
69 A locus for isolated cataract on human Xp. J Med Genet 2002 1.11
70 Analysis of the TSC1 and TSC2 genes in sporadic renal cell carcinomas. Br J Cancer 2001 1.11
71 Genetic linkage between von Hippel-Lindau disease and three microsatellite polymorphisms refines the localisation of the VHL locus. Hum Mol Genet 1993 1.10
72 Ophthalmological screening for von Hippel-Lindau disease. Eye (Lond) 1991 1.10
73 SLIT2 promoter methylation analysis in neuroblastoma, Wilms' tumour and renal cell carcinoma. Br J Cancer 2004 1.10
74 The RASSF8 candidate tumor suppressor inhibits cell growth and regulates the Wnt and NF-kappaB signaling pathways. Oncogene 2010 1.10
75 Analysis of the Birt-Hogg-Dubé (BHD) tumour suppressor gene in sporadic renal cell carcinoma and colorectal cancer. J Med Genet 2003 1.10
76 Allelic methylation of H19 and IGF2 in the Beckwith-Wiedemann syndrome. Hum Mol Genet 1994 1.09
77 A locus for asphyxiating thoracic dystrophy, ATD, maps to chromosome 15q13. J Med Genet 2003 1.08
78 Von Hippel-Lindau disease: clinical and molecular perspectives. Adv Cancer Res 2001 1.08
79 Epigenetic inactivation of the RASSF10 candidate tumor suppressor gene is a frequent and an early event in gliomagenesis. Oncogene 2010 1.08
80 Meeting the challenge of interpreting high-resolution single nucleotide polymorphism array data: does increased diagnostic power outweigh the dilemma of rare variants. BJOG 2013 1.07
81 An analysis of phenotypic variation in the familial cancer syndrome von Hippel-Lindau disease: evidence for modifier effects. Am J Hum Genet 1998 1.07
82 Epigenetic regulation of the ras effector/tumour suppressor RASSF2 in breast and lung cancer. Oncogene 2007 1.06
83 Detailed mapping of a congenital heart disease gene in chromosome 3p25. J Med Genet 2000 1.05
84 A frequent hMSH2 mutation in hereditary non-polyposis colon cancer syndrome. Lancet 1995 1.04
85 Molecular genetic investigation of sporadic renal cell carcinoma: analysis of allele loss on chromosomes 3p, 5q, 11p, 17 and 22. Br J Cancer 1994 1.04
86 Somatic NF2 gene mutations in familial and non-familial vestibular schwannoma. Hum Mol Genet 1994 1.03
87 Role of chromosome 3p12-p21 tumour suppressor genes in clear cell renal cell carcinoma: analysis of VHL dependent and VHL independent pathways of tumorigenesis. Mol Pathol 2000 1.02
88 Microsatellite instability in early onset and familial colorectal cancer. J Med Genet 1996 1.02
89 Detailed genetic and physical mapping of tumor suppressor loci on chromosome 3p in ovarian cancer. Cancer Res 1999 1.02
90 Accumulation of aluminium in chronic renal failure due to administration of albumin replacement solutions. Br Med J (Clin Res Ed) 1986 1.01
91 Cognitive deficits in the Steele-Richardson-Olszewski syndrome (progressive supranuclear palsy). J Neurol Neurosurg Psychiatry 1985 0.98
92 Clinical and genetic analysis of patients with pancreatic neuroendocrine tumors associated with von Hippel-Lindau disease. Surgery 2000 0.98
93 Cystic fibrosis diagnosed by molecular genetic investigation in the mother of a patient with cystic fibrosis. Thorax 1997 0.97
94 Molecular genetic analysis of FIH-1, FH, and SDHB candidate tumour suppressor genes in renal cell carcinoma. J Clin Pathol 2004 0.97
95 Comparative sequence analysis of the VHL tumor suppressor gene. Genomics 2000 0.97
96 Germline mutation in DOK7 associated with fetal akinesia deformation sequence. J Med Genet 2009 0.96
97 Investigation of the role of SDHB inactivation in sporadic phaeochromocytoma and neuroblastoma. Br J Cancer 2004 0.96
98 Identification of a novel mutation disrupting the DNA binding activity of GCM2 in autosomal recessive familial isolated hypoparathyroidism. J Med Genet 2005 0.95
99 Analysis of CRELD1 as a candidate 3p25 atrioventicular septal defect locus (AVSD2). Clin Genet 2005 0.95
100 Identification of novel TYR and TYRP1 mutations in oculocutaneous albinism. Clin Genet 2005 0.94
101 Opposite association of two PPARG variants with cancer: overrepresentation of H449H in endometrial carcinoma cases and underrepresentation of P12A in renal cell carcinoma cases. Hum Genet 2001 0.94
102 Chromosome 3p allele loss in early invasive breast cancer: detailed mapping and association with clinicopathological features. Mol Pathol 2001 0.92
103 Succinate dehydrogenase subunit B (SDHB) gene deletion associated with a composite paraganglioma/neuroblastoma. J Med Genet 2009 0.92
104 A PCR generated AccI RFLP in the 3' untranslated region of the von Hippel-Lindau disease (VHL) tumour suppressor gene. Hum Mol Genet 1994 0.91
105 Familial renal cell carcinoma: clinical and molecular genetic aspects. Br J Cancer 1991 0.91
106 Identification of novel VHL targets that are associated with the development of renal cell carcinoma. Oncogene 2006 0.90
107 Isolated familial pheochromocytoma as a variant of von Hippel-Lindau disease. J Clin Endocrinol Metab 1996 0.90
108 Risk of breast cancer in male BRCA2 carriers. J Med Genet 2010 0.90
109 Renal cancer and malformations in relatives of patients with Bardet-Biedl syndrome. Nephrol Dial Transplant 2000 0.89
110 Molecular genetic investigation of the neurofibromatosis type 2 tumor suppressor gene in sporadic meningioma. J Neurosurg 1996 0.89
111 Analysis of multiple renal cell adenomas and carcinomas suggests allelic loss at 3p21 to be a prerequisite for malignant development. Genes Chromosomes Cancer 1997 0.89
112 Familial clear cell renal cell carcinoma (FCRC): clinical features and mutation analysis of the VHL, MET, and CUL2 candidate genes. J Med Genet 2000 0.89
113 Focal dermal hypoplasia (Goltz syndrome) presenting as a severe fetal malformation syndrome. Clin Dysmorphol 1997 0.88
114 Genomic organization and chromosomal localization of the human CUL2 gene and the role of von Hippel-Lindau tumor suppressor-binding protein (CUL2 and VBP1) mutation and loss in renal-cell carcinoma development. Genes Chromosomes Cancer 1999 0.88
115 Detailed genetic mapping of the von Hippel-Lindau disease tumour suppressor gene. J Med Genet 1993 0.87
116 Microarray comparative genomic hybridization in prenatal diagnosis: a review. Ultrasound Obstet Gynecol 2012 0.87
117 How does altering the resolution of chromosomal microarray analysis in the prenatal setting affect the rates of pathological and uncertain findings? J Matern Fetal Neonatal Med 2013 0.87
118 Mutation screening of MSH2 and MLH1 mRNA in hereditary non-polyposis colon cancer syndrome. J Med Genet 1996 0.87
119 Age at onset in Huntington's disease and methylation at D4S95. J Med Genet 1993 0.86
120 TaqI and PstI RFLPs in the von Hippel-Lindau disease gene (VHL). Hum Mol Genet 1993 0.86
121 Genomic imprinting and cancer; new paradigms in the genetics of neoplasia. Toxicol Lett 2001 0.86
122 Cone dystrophy phenotype associated with a frameshift mutation (M280fsX291) in the alpha-subunit of cone specific transducin (GNAT2). Br J Ophthalmol 2003 0.86
123 Microsatellite instability and mutational analysis of transforming growth factor beta receptor type II gene (TGFBR2) in sporadic ovarian cancer. Mol Pathol 2001 0.85
124 Age related shift in the mutation spectra of germline and somatic NF2 mutations: hypothetical role of DNA repair mechanisms. J Med Genet 2005 0.85
125 MET mutation and familial gastric cancer. J Med Genet 2001 0.85
126 Mutation analysis of H19 and NAP1L4 (hNAP2) candidate genes and IGF2 DMR2 in Beckwith-Wiedemann syndrome. J Med Genet 2000 0.85
127 Inherited predisposition to colorectal adenomas caused by multiple rare alleles of MUTYH but not OGG1, NUDT1, NTH1 or NEIL 1, 2 or 3. Gut 2008 0.85
128 Teicoplanin-induced ototoxicity in Down's syndrome. Lancet 1986 0.84
129 Screening for renovascular disease with captopril-enhanced renography. Nephrol Dial Transplant 1992 0.84
130 MSH2 sequence variations and inherited colorectal cancer susceptibility. Eur J Cancer 1996 0.83
131 The tumor susceptibility gene TMEM127 is mutated in renal cell carcinomas and modulates endolysosomal function. Hum Mol Genet 2013 0.83
132 A clinical and molecular genetic study of a rare dominantly inherited syndrome (MRCS) comprising of microcornea, rod-cone dystrophy, cataract, and posterior staphyloma. Br J Ophthalmol 2003 0.83
133 Cryptic von Hippel-Lindau disease: germline mutations in patients with haemangioblastoma only. J Med Genet 2000 0.83
134 Hepatocyte growth factor-stimulated renal tubular mitogenesis: effects on expression of c-myc, c-fos, c-met, VEGF and the VHL tumour-suppressor and related genes. Br J Cancer 1998 0.82
135 Non-random transmission of mutant alleles to female offspring in BRCA carriers. J Med Genet 2005 0.82
136 Genetic and functional analysis of the von Hippel-Lindau (VHL) tumour suppressor gene promoter. J Med Genet 2002 0.82
137 Somatic neurofibromatosis type 2 gene mutations and growth characteristics in vestibular schwannoma. Am J Otol 1997 0.82
138 The effect of systemic heparinisation and haemodialysis on plasma octadeca-9,11-dienoic acid (9,11-LA'). Free Radic Res Commun 1987 0.82
139 Molecular genetic analysis of the von Hippel-Lindau disease (VHL) tumour suppressor gene in gonadal tumours. Eur J Cancer 1995 0.81
140 Risk of multisystem disease in isolated ocular angioma (haemangioblastoma) J Med Genet 2000 0.81
141 Alternative mechanisms associated with silencing of CDKN1C in Beckwith-Wiedemann syndrome. J Med Genet 2005 0.81
142 Promoter mutation is a common variant in GJC2-associated Pelizaeus-Merzbacher-like disease. Mol Genet Metab 2011 0.81
143 Loss of PL6 protein expression in renal clear cell carcinomas and other VHL-deficient tumours. J Pathol 2008 0.80
144 A molecular, clinical, and immunohistochemical study of vestibular schwannoma. Otolaryngol Head Neck Surg 1997 0.80
145 Oxalate metabolism in end-stage renal disease: the effect of ascorbic acid and pyridoxine. Nephrol Dial Transplant 1988 0.79
146 Increased free-radical activity during haemodialysis? Nephrol Dial Transplant 1987 0.79
147 Germline mutation analysis of the transforming growth factor beta receptor type II (TGFBR2) and E-cadherin (CDH1) genes in early onset and familial colorectal cancer. J Med Genet 2001 0.79
148 Mortality and morbidity of long-term haemodialysis. Lancet 1987 0.79
149 Mutation analysis of glial cell line-derived neurotrophic factor (GDNF), a ligand for the RET/GDNF receptor alpha complex, in sporadic phaeochromocytomas. Cancer Res 1997 0.78
150 Beckwith-Wiedemann syndrome in a child with chromosome 18q deletion. J Med Genet 1998 0.78
151 Long polymerase chain reaction in detection of germline deletions in the von Hippel-Lindau tumour suppressor gene. Hum Genet 1999 0.78
152 Serum ferritin in haemodialysis patients: is there a relationship to 'haemochromatosis alleles' HLA A3, B7, B14? Nephron 1986 0.78
153 A clinical and molecular genetic analysis of solitary ocular angioma. Ophthalmology 1999 0.78
154 Comparison of continuous arteriovenous haemofiltration and haemodialysis in acute renal failure. Lancet 1988 0.78
155 Calcific aortic stenosis in chronic renal failure. Lancet 1985 0.78
156 Incidence and significance of congenital hypertrophy of the retinal pigment epithelium (CHRPE) in familial adenomatous polyposis coli (FAPC). Ophthalmic Paediatr Genet 1992 0.77
157 Molecular genetic analysis of exons 1 to 6 of the APC gene in non-polyposis familial colorectal cancer. Clin Genet 1995 0.77
158 Physical mapping of chromosome 3p25-p26 by fluorescence in situ hybridisation (FISH). Hum Genet 1993 0.77
159 Genome-wide DNA methylation profiling of recurrent and non-recurrent chordomas. Epigenetics 2015 0.77
160 Choroid plexus papilloma. A new presentation of von Hippel-Lindau (VHL) disease. Eye (Lond) 1992 0.77
161 Differences in allelic distribution of two polymorphisms in the VHL-associated gene CUL2 in pheochromocytoma patients without somatic CUL2 mutations. J Clin Endocrinol Metab 1999 0.76
162 Acute renal failure due to glomerulonephritis associated with staphylococcal infection. Postgrad Med J 1984 0.76
163 Congenital hypertrophy of retinal pigment epithelium and risk estimation in adenomatous polyposis coli. Lancet 1990 0.75
164 The gene for von Hippel-Lindau disease. BMJ 1993 0.75
165 Clinical utility of array comparative genomic hybridisation for prenatal diagnosis: a cohort study of 3171 pregnancies. BJOG 2012 0.75
166 Re: Characterization of hereditary nonpolyposis colorectal cancer families from a population-based series of cases. J Natl Cancer Inst 2001 0.75
167 A Novel ABCA12 Mutation in Two Families with Congenital Ichthyosis. Scientifica (Cairo) 2012 0.75
168 Mutation screening analysis of the retinoblastoma related gene RB2/p130 in sporadic ovarian cancer and head and neck squamous cell cancer. Mol Pathol 2002 0.75
169 Comparison of two methods of Tenckhoff catheter insertion. Nephron 1988 0.75
170 Molecular genetic analysis of the mechanism of tumorigenesis in acoustic neuroma. Arch Otolaryngol Head Neck Surg 1993 0.75
171 Genetics of familial and non-familial skull base tumours. Clin Otolaryngol Allied Sci 1995 0.75
172 Serum angiotensin-converting enzyme during haemodialysis: effect of membrane biocompatibility. Nephron 1987 0.75
173 JMG Online: exploiting the potential of electronic publication and manuscript submission. J Med Genet 2001 0.75
174 von Hippel-Lindau disease and familial polyposis coli in the same family. Arch Ophthalmol 1996 0.75
175 Independent segregation of von Hippel-Lindau disease and cerebral cavernomas. J Neurol Neurosurg Psychiatry 1997 0.75
176 SDHD-related chromaffin tumours: disease localisation to genetic dysfunction. Horm Res Paediatr 2010 0.75