PubRank

Michael A Patton

Author PubWeight™ 35.17‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity. Am J Hum Genet 2002 2.81
2 The identification of a conserved domain in both spartin and spastin, mutated in hereditary spastic paraplegia. Genomics 2003 2.69
3 Infantile-onset symptomatic epilepsy syndrome caused by a homozygous loss-of-function mutation of GM3 synthase. Nat Genet 2004 2.45
4 SPG20 is mutated in Troyer syndrome, an hereditary spastic paraplegia. Nat Genet 2002 2.27
5 3D analysis of facial morphology. Am J Med Genet A 2004 1.95
6 A restricted spectrum of NRAS mutations causes Noonan syndrome. Nat Genet 2009 1.71
7 Sequence alterations within CYP7B1 implicate defective cholesterol homeostasis in motor-neuron degeneration. Am J Hum Genet 2008 1.65
8 Mutation of FA2H underlies a complicated form of hereditary spastic paraplegia (SPG35). Hum Mutat 2010 1.44
9 Maspardin is mutated in mast syndrome, a complicated form of hereditary spastic paraplegia associated with dementia. Am J Hum Genet 2003 1.34
10 Craniofacial expression of human and murine TBX22 correlates with the cleft palate and ankyloglossia phenotype observed in CPX patients. Hum Mol Genet 2002 1.20
11 Defective mitochondrial mRNA maturation is associated with spastic ataxia. Am J Hum Genet 2010 1.08
12 Hypomorphic PCNA mutation underlies a human DNA repair disorder. J Clin Invest 2014 1.07
13 A family with hereditary congenital facial paresis and a brief review of the literature. Clin Dysmorphol 2010 1.06
14 Different mutations in the NF1 gene are associated with Neurofibromatosis-Noonan syndrome (NFNS). Am J Med Genet A 2003 1.01
15 Common arterial trunk associated with a homeodomain mutation of NKX2.6. Hum Mol Genet 2005 1.00
16 Mutation of HERC2 causes developmental delay with Angelman-like features. J Med Genet 2012 0.98
17 Troyer syndrome revisited. A clinical and radiological study of a complicated hereditary spastic paraplegia. J Neurol 2004 0.97
18 SLITRK6 mutations cause myopia and deafness in humans and mice. J Clin Invest 2013 0.93
19 Consanguinity and deafness in Omani children. Int J Audiol 2008 0.93
20 Paternal germline origin and sex-ratio distortion in transmission of PTPN11 mutations in Noonan syndrome. Am J Hum Genet 2004 0.92
21 Novel Robinow syndrome causing mutations in the proximal region of the frizzled-like domain of ROR2 are retained in the endoplasmic reticulum. Hum Genet 2007 0.92
22 Chudley-McCullough syndrome: another report and a brief review of the literature. Clin Dysmorphol 2011 0.91
23 Genetic heterogeneity in LEOPARD syndrome: two families with no mutations in PTPN11. J Hum Genet 2004 0.91
24 A novel NIPA1 mutation associated with a pure form of autosomal dominant hereditary spastic paraplegia. Neurogenetics 2005 0.89
25 Further phenotypic and genetic variation in ADULT syndrome. Am J Med Genet A 2006 0.82
26 Early fetal death associated with compound heterozygosity for Noonan syndrome-causative PTPN11 mutations. Am J Med Genet A 2007 0.79
27 Absence of PTPN11 mutations in 28 cases of cardiofaciocutaneous (CFC) syndrome. Hum Genet 2002 0.78
28 Oculoauriculovertebral spectrum phenotype caused by an unbalanced t(5;8)(p15.31;p23.1) rearrangement. Clin Dysmorphol 2004 0.75
29 Presentation one: a neonate with swollen feet. J Fam Health Care 2013 0.75
30 Useful information about rare inherited disorders. BMJ 2003 0.75
31 A suspected case of Abruzzo-Erickson syndrome. Cleft Palate Craniofac J 2004 0.75
32 A clinical, genetic and candidate gene study of Silver syndrome, a complicated form of hereditary spastic paraplegia. J Neurol 2004 0.75
33 Ruptured cerebral aneurysm in a patient with Floating-Harbor syndrome. Clin Dysmorphol 2008 0.75