PubRank

Marcella Devoto

Author PubWeight™ 94.86‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Identification of ALK as a major familial neuroblastoma predisposition gene. Nature 2008 7.38
2 A genome-wide association study identifies KIAA0350 as a type 1 diabetes gene. Nature 2007 6.10
3 Cornelia de Lange syndrome is caused by mutations in NIPBL, the human homolog of Drosophila melanogaster Nipped-B. Nat Genet 2004 5.19
4 Variants of DENND1B associated with asthma in children. N Engl J Med 2009 4.18
5 Copy number variation at 1q21.1 associated with neuroblastoma. Nature 2009 4.10
6 Chromosome 6p22 locus associated with clinically aggressive neuroblastoma. N Engl J Med 2008 3.80
7 A novel susceptibility locus for type 1 diabetes on Chr12q13 identified by a genome-wide association study. Diabetes 2008 2.90
8 NIPBL mutational analysis in 120 individuals with Cornelia de Lange syndrome and evaluation of genotype-phenotype correlations. Am J Hum Genet 2004 2.67
9 Common variations in BARD1 influence susceptibility to high-risk neuroblastoma. Nat Genet 2009 2.47
10 Integrative genomics identifies LMO1 as a neuroblastoma oncogene. Nature 2010 2.21
11 IRAK-M is involved in the pathogenesis of early-onset persistent asthma. Am J Hum Genet 2007 1.77
12 New locus for autosomal dominant high myopia maps to the long arm of chromosome 17. Invest Ophthalmol Vis Sci 2003 1.77
13 Common variation at 6q16 within HACE1 and LIN28B influences susceptibility to neuroblastoma. Nat Genet 2012 1.74
14 Evidence from human and zebrafish that GPC1 is a biliary atresia susceptibility gene. Gastroenterology 2013 1.63
15 Genome-wide copy number variation study associates metabotropic glutamate receptor gene networks with attention deficit hyperactivity disorder. Nat Genet 2011 1.63
16 Phenotype restricted genome-wide association study using a gene-centric approach identifies three low-risk neuroblastoma susceptibility Loci. PLoS Genet 2011 1.57
17 Precocious sister chromatid separation (PSCS) in Cornelia de Lange syndrome. Am J Med Genet A 2005 1.53
18 Identification of a novel locus on 2q for autosomal dominant high-grade myopia. Invest Ophthalmol Vis Sci 2005 1.40
19 A genotype-phenotype correlation with gender-effect for hearing impairment caused by TECTA mutations. Cell Physiol Biochem 2004 1.32
20 Association of variants of the interleukin-23 receptor gene with susceptibility to pediatric Crohn's disease. Clin Gastroenterol Hepatol 2007 1.26
21 Genetic predisposition to familial neuroblastoma: identification of two novel genomic regions at 2p and 12p. Hum Hered 2007 1.19
22 Genetic linkage study of high-grade myopia in a Hutterite population from South Dakota. Mol Vis 2007 1.16
23 Replication of GWAS-identified neuroblastoma risk loci strengthens the role of BARD1 and affirms the cumulative effect of genetic variations on disease susceptibility. Carcinogenesis 2012 1.14
24 Statistical tools for linkage analysis and genetic association studies. Expert Rev Mol Diagn 2005 1.10
25 Common variation at BARD1 results in the expression of an oncogenic isoform that influences neuroblastoma susceptibility and oncogenicity. Cancer Res 2012 1.09
26 Ophthalmologic findings in Cornelia de Lange syndrome: a genotype-phenotype correlation study. Arch Ophthalmol 2006 1.09
27 Association of the T300A non-synonymous variant of the ATG16L1 gene with susceptibility to paediatric Crohn's disease. Gut 2007 1.08
28 Replication of neuroblastoma SNP association at the BARD1 locus in African-Americans. Cancer Epidemiol Biomarkers Prev 2012 1.06
29 Genotype and cardiovascular phenotype correlations with TBX1 in 1,022 velo-cardio-facial/DiGeorge/22q11.2 deletion syndrome patients. Hum Mutat 2011 1.05
30 Weak linkage at 4p16 to predisposition for human neuroblastoma. Oncogene 2002 1.00
31 Rare variants in TP53 and susceptibility to neuroblastoma. J Natl Cancer Inst 2014 1.00
32 Estimates of genetic and environmental contribution to 43 quantitative traits support sharing of a homogeneous environment in an isolated population from South Tyrol, Italy. Hum Hered 2007 0.99
33 A common haplotype at the 5' end of the RET proto-oncogene, overrepresented in Hirschsprung patients, is associated with reduced gene expression. Hum Mutat 2005 0.98
34 Incorporating prior biological information in linkage studies increases power and limits multiple testing. BMC Proc 2007 0.97
35 Nocturnal enuresis: a suggestive endophenotype marker for a subgroup of inattentive attention-deficit/hyperactivity disorder. J Pediatr 2009 0.94
36 Recessive and dominant mutations in COL12A1 cause a novel EDS/myopathy overlap syndrome in humans and mice. Hum Mol Genet 2013 0.93
37 Second family with hearing impairment linked to 19q13 and refined DFNA4 localisation. Eur J Hum Genet 2002 0.92
38 ADHD genetics: 2007 update. Curr Psychiatry Rep 2007 0.92
39 Replication of a GWAS signal in a Caucasian population implicates ADD3 in susceptibility to biliary atresia. Hum Genet 2013 0.92
40 Heterogeneity in the magnitude of the insulin gene effect on HLA risk in type 1 diabetes. Diabetes 2004 0.90
41 Computerized neurocognitive profile in young people with 22q11.2 deletion syndrome compared to youths with schizophrenia and at-risk for psychosis. Am J Med Genet B Neuropsychiatr Genet 2011 0.90
42 Contribution of IBD5 locus to clinical features of IBD patients. Am J Gastroenterol 2006 0.90
43 Linkage analysis in families with recurrent neuroblastoma. Ann N Y Acad Sci 2002 0.90
44 Novel COCH mutation in a family with autosomal dominant late onset sensorineural hearing impairment and tinnitus. Am J Otolaryngol 2013 0.88
45 Candidate gene analysis in an on-going genome-wide association study of attention-deficit hyperactivity disorder: suggestive association signals in ADRA1A. Psychiatr Genet 2009 0.87
46 Genetic modifiers of β-thalassemia and clinical severity as assessed by age at first transfusion. Haematologica 2012 0.86
47 CARD15 genotyping in inflammatory bowel disease patients by multiplex pyrosequencing. Clin Chem 2003 0.86
48 Genetic loci linked to type 1 diabetes and multiple sclerosis families in Sardinia. BMC Med Genet 2008 0.84
49 Analysis of GWAS top hits in ADHD suggests association to two polymorphisms located in genes expressed in the cerebellum. Am J Med Genet B Neuropsychiatr Genet 2010 0.84
50 A novel locus for syndromic chronic idiopathic intestinal pseudo-obstruction maps to chromosome 8q23-q24. Eur J Hum Genet 2007 0.84
51 Polymorphic changes in the 5' flanking region of factor VII have a combined effect on promoter strength. Thromb Haemost 2002 0.84
52 A rare haplotype of the RET proto-oncogene is a risk-modifying allele in hirschsprung disease. Am J Hum Genet 2002 0.83
53 The Otto Aufranc Award: Identification of a 4 Mb region on chromosome 17q21 linked to developmental dysplasia of the hip in one 18-member, multigeneration family. Clin Orthop Relat Res 2009 0.81
54 Linkage analysis conditional on HLA status in a large North American pedigree supports the presence of a multiple sclerosis susceptibility locus on chromosome 12p12. Hum Mol Genet 2002 0.79
55 Overt cleft palate phenotype and TBX1 genotype correlations in velo-cardio-facial/DiGeorge/22q11.2 deletion syndrome patients. Am J Med Genet A 2012 0.79
56 Next-generation linkage analysis. Hum Hered 2011 0.78
57 Developmental dysplasia of the hip: linkage mapping and whole exome sequencing identify a shared variant in CX3CR1 in all affected members of a large multigeneration family. J Bone Miner Res 2013 0.78
58 Association of a polymorphic variant of the adiponectin gene with insulin resistance in african americans. Clin Transl Sci 2008 0.77
59 A candidate gene approach to identify modifiers of the palatal phenotype in 22q11.2 deletion syndrome patients. Int J Pediatr Otorhinolaryngol 2012 0.77
60 Variants of ST8SIA1 are associated with risk of developing multiple sclerosis. PLoS One 2008 0.76
61 Integration of Omics Data in Genetic Epidemiology. Hum Hered 2015 0.75
62 Exome sequencing reveals compound heterozygous mutations in ATP8B1 in a JAG1/NOTCH2 mutation-negative patient with clinically diagnosed Alagille syndrome. Am J Med Genet A 2015 0.75
63 Commentary on Mutations in Interleukin-10 Receptor and Clinical Phenotypes in Patients with Very Early-onset Inflammatory Bowel Disease: A Chinese VEO-IBD Collaboration Group Survey. Inflamm Bowel Dis 2017 0.75
64 Novel ZBTB24 Mutation Associated with Immunodeficiency, Centromere Instability, and Facial Anomalies Type-2 Syndrome Identified in a Patient with Very Early Onset Inflammatory Bowel Disease. Inflamm Bowel Dis 2017 0.75
65 O-001 A Diagnostic Approach of Immune Dysregulation on Very Early-Onset IBD. Inflamm Bowel Dis 2017 0.75
66 O-003 Understanding the Relevance of Whole Exome Sequencing Identified Variants in Patients with Very Early-Onset-IBD. Inflamm Bowel Dis 2016 0.75
67 Advances in family-based association analysis. Introduction. Hum Hered 2008 0.75