PubRank

Ada Hamosh

Author PubWeight™ 88.76‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Development of human protein reference database as an initial platform for approaching systems biology in humans. Genome Res 2003 14.79
2 Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies. Am J Hum Genet 2010 13.70
3 McKusick's Online Mendelian Inheritance in Man (OMIM). Nucleic Acids Res 2008 12.83
4 A new face and new challenges for Online Mendelian Inheritance in Man (OMIM®). Hum Mutat 2011 6.25
5 Problematic variation in local institutional review of a multicenter genetic epidemiology study. JAMA 2003 5.08
6 Haploinsufficiency of telomerase reverse transcriptase leads to anticipation in autosomal dominant dyskeratosis congenita. Proc Natl Acad Sci U S A 2005 4.64
7 Survival after treatment with phenylacetate and benzoate for urea-cycle disorders. N Engl J Med 2007 3.36
8 The Centers for Mendelian Genomics: a new large-scale initiative to identify the genes underlying rare Mendelian conditions. Am J Med Genet A 2012 3.12
9 Association of human aging with a functional variant of klotho. Proc Natl Acad Sci U S A 2002 2.38
10 Planning the human variome project: the Spain report. Hum Mutat 2009 2.22
11 Heritability of lung disease severity in cystic fibrosis. Am J Respir Crit Care Med 2007 2.04
12 Relative contribution of genetic and nongenetic modifiers to intestinal obstruction in cystic fibrosis. Gastroenterology 2006 1.71
13 New tools for Mendelian disease gene identification: PhenoDB variant analysis module; and GeneMatcher, a web-based tool for linking investigators with an interest in the same gene. Hum Mutat 2015 1.64
14 A novel presentation of DYT 16: acute onset in infancy and association with MRI abnormalities. Mov Disord 2013 1.58
15 American College of Medical Genetics recommendations for the design and performance expectations for clinical genomic copy number microarrays intended for use in the postnatal setting for detection of constitutional abnormalities. Genet Med 2011 1.26
16 3q29 interstitial microduplication: a new syndrome in a three-generation family. Am J Med Genet A 2008 1.24
17 Citrin deficiency, a perplexing global disorder. Mol Genet Metab 2008 1.12
18 Characterization of complex chromosomal rearrangements by targeted capture and next-generation sequencing. Genome Res 2011 1.10
19 Genomic analysis of partial 21q monosomies with variable phenotypes. Eur J Hum Genet 2010 0.97
20 Mosaic trisomy 13: understanding origin using SNP array. J Med Genet 2010 0.89
21 Three cases of isolated terminal deletion of chromosome 8p without heart defects presenting with a mild phenotype. Am J Med Genet A 2013 0.85
22 3q29 interstitial microdeletion syndrome: an inherited case associated with cardiac defect and normal cognition. Eur J Med Genet 2009 0.84
23 Getting ready for the Human Phenome Project: the 2012 forum of the Human Variome Project. Hum Mutat 2013 0.82
24 A diversified approach for PKU treatment: routine screening yields high incidence of psychiatric distress in phenylketonuria clinics. Mol Genet Metab 2012 0.82
25 Progressive cavitating leukoencephalopathy: a novel childhood disease. Ann Neurol 2005 0.78
26 Gastric function in children with cystic fibrosis: effect of diet on gastric lipase levels and fat digestion. Pediatr Res 2003 0.78
27 False negative cystic fibrosis newborn screen. Clin Pediatr (Phila) 2010 0.78
28 Amplitude-integrated electroencephalography in newborns with inborn errors of metabolism. Neonatology 2012 0.77
29 Microphthalmia with linear skin defects (MLS) syndrome evaluated by prenatal karyotyping, FISH and array comparative genomic hybridization. Prenat Diagn 2007 0.77
30 Novel TUBB4A mutations and expansion of the neuroimaging phenotype of hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC). Am J Med Genet A 2014 0.76
31 Concerns regarding transience and heterozygosity in neonatal hyperglycenemia. Ann Neurol 2003 0.75
32 Intracranial hemorrhage as the initial manifestation of a congenital disorder of glycosylation. Pediatrics 2006 0.75
33 Maternal hyperphenylalaninemia: rapid achievement of metabolic control predicts overall control throughout pregnancy. Mol Genet Metab 2013 0.75