PubRank

Matthew A Deardorff

Author PubWeight™ 52.82‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 A mosaic activating mutation in AKT1 associated with the Proteus syndrome. N Engl J Med 2011 8.26
2 A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay. Nat Genet 2010 6.62
3 Mechanisms of mosaicism, chimerism and uniparental disomy identified by single nucleotide polymorphism array analysis. Hum Mol Genet 2010 3.64
4 Transcriptional dysregulation in NIPBL and cohesin mutant human cells. PLoS Biol 2009 2.89
5 Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome. Nat Genet 2012 1.70
6 Dosage effects of cohesin regulatory factor PDS5 on mammalian development: implications for cohesinopathies. PLoS One 2009 1.30
7 Mutations and variants in the cohesion factor genes NIPBL, SMC1A, and SMC3 in a cohort of 30 unrelated patients with Cornelia de Lange syndrome. Am J Med Genet A 2010 1.26
8 Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance. Hum Mol Genet 2014 1.25
9 Neutral mitochondrial heteroplasmy and the influence of aging. Hum Mol Genet 2011 1.11
10 Utility of SNP arrays in detecting, quantifying, and determining meiotic origin of tetrasomy 12p in blood from individuals with Pallister-Killian syndrome. Am J Med Genet A 2012 1.06
11 Further evidence for the possible role of MEIS2 in the development of cleft palate and cardiac septum. Am J Med Genet A 2010 1.05
12 Townes-Brocks syndrome: twenty novel SALL1 mutations in sporadic and familial cases and refinement of the SALL1 hot spot region. Hum Mutat 2007 1.01
13 NIPBL rearrangements in Cornelia de Lange syndrome: evidence for replicative mechanism and genotype-phenotype correlation. Genet Med 2012 1.01
14 The Coffin-Siris syndrome: a proposed diagnostic approach and assessment of 15 overlapping cases. Am J Med Genet A 2012 1.00
15 Causes of death and autopsy findings in a large study cohort of individuals with Cornelia de Lange syndrome and review of the literature. Am J Med Genet A 2011 0.97
16 Bilateral pheochromocytomas, hemihyperplasia, and subtle somatic mosaicism: the importance of detecting low-level uniparental disomy. Am J Med Genet A 2013 0.95
17 Genome-wide DNA methylation analysis in cohesin mutant human cell lines. Nucleic Acids Res 2010 0.95
18 Compromised structure and function of HDAC8 mutants identified in Cornelia de Lange Syndrome spectrum disorders. ACS Chem Biol 2014 0.95
19 Facial diagnosis of mild and variant CdLS: Insights from a dysmorphologist survey. Am J Med Genet A 2010 0.93
20 SMC1A expression and mechanism of pathogenicity in probands with X-Linked Cornelia de Lange syndrome. Hum Mutat 2009 0.93
21 Investigation of autistic features among individuals with mild to moderate Cornelia de Lange syndrome. Am J Med Genet A 2012 0.92
22 A 781-kb deletion of 13q12.3 in a patient with Peters plus syndrome. Am J Med Genet A 2009 0.92
23 Isolated NIBPL missense mutations that cause Cornelia de Lange syndrome alter MAU2 interaction. Eur J Hum Genet 2011 0.92
24 Clinical features of three girls with mosaic genome-wide paternal uniparental isodisomy. Am J Med Genet A 2013 0.88
25 Detailed assessment of the ear in Cornelia de Lange syndrome: comparison with a control sample using the new dysmorphology guidelines. Am J Med Genet A 2009 0.88
26 De novo heterozygous mutations in SMC3 cause a range of Cornelia de Lange syndrome-overlapping phenotypes. Hum Mutat 2015 0.87
27 Congenital heart disease in Cornelia de Lange syndrome: phenotype and genotype analysis. Am J Med Genet A 2012 0.86
28 Proteomic profile identifies dysregulated pathways in Cornelia de Lange syndrome cells with distinct mutations in SMC1A and SMC3 genes. J Proteome Res 2012 0.82
29 Improving surveillance for hyperammonemia in the newborn. Mol Genet Metab 2013 0.81
30 PECONPI: a novel software for uncovering pathogenic copy number variations in non-syndromic sensorineural hearing loss and other genetically heterogeneous disorders. Am J Med Genet A 2013 0.81
31 Whole-exome sequencing identifies mutated c12orf57 in recessive corpus callosum hypoplasia. Am J Hum Genet 2013 0.81
32 Identification of a prenatal profile of Cornelia de Lange syndrome (CdLS): a review of 53 CdLS pregnancies. Am J Med Genet A 2012 0.80
33 Melorheostosis: segmental osteopoikilosis or a separate entity? J Pediatr Orthop 2015 0.79
34 Cornelia de Lange syndrome: further delineation of phenotype, cohesin biology and educational focus, 5th Biennial Scientific and Educational Symposium abstracts. Am J Med Genet A 2014 0.79
35 Homozygosity for the V37I GJB2 mutation in fifteen probands with mild to moderate sensorineural hearing impairment: further confirmation of pathogenicity and haplotype analysis in Asian populations. Am J Med Genet A 2013 0.79
36 Mosaic maternal uniparental disomy of chromosome 15 in Prader-Willi syndrome: utility of genome-wide SNP array. Am J Med Genet A 2012 0.79
37 The incidence of thrombocytopenia in children with Cornelia de Lange syndrome. Am J Med Genet A 2010 0.77
38 Clinical features, diagnostic criteria, and management of Coffin-Siris syndrome. Am J Med Genet C Semin Med Genet 2014 0.77
39 A family with a complex clinical presentation characterized by arrhythmogenic right ventricular dysplasia/cardiomyopathy and features of branchio-oculo-facial syndrome. Am J Med Genet A 2013 0.77
40 NIPBL expression levels in CdLS probands as a predictor of mutation type and phenotypic severity. Am J Med Genet C Semin Med Genet 2016 0.76
41 Hypohidrotic ectodermal dysplasia and immunodeficiency with coincident NEMO and EDA mutations. Front Immunol 2011 0.75
42 The value of the metabolic autopsy in the pediatric hospital setting. J Pediatr 2006 0.75
43 Cover Image, Volume 172C, Number 2, June 2016. Am J Med Genet C Semin Med Genet 2016 0.75
44 Dr. Laird G. Jackson Festschrift. Am J Med Genet C Semin Med Genet 2016 0.75