PubRank

David A Parry

Author PubWeight™ 18.52‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Null mutations in LTBP2 cause primary congenital glaucoma. Am J Hum Genet 2009 2.35
2 Loss-of-function mutations in MICU1 cause a brain and muscle disorder linked to primary alterations in mitochondrial calcium signaling. Nat Genet 2013 2.11
3 Mutations in NMNAT1 cause Leber congenital amaurosis and identify a new disease pathway for retinal degeneration. Nat Genet 2012 1.96
4 Mutations in the beta propeller WDR72 cause autosomal-recessive hypomaturation amelogenesis imperfecta. Am J Hum Genet 2009 1.65
5 Recessive mutations in SLC38A8 cause foveal hypoplasia and optic nerve misrouting without albinism. Am J Hum Genet 2013 1.53
6 Phase I and pharmacologic trial of cytosine arabinoside with the selective checkpoint 1 inhibitor Sch 900776 in refractory acute leukemias. Clin Cancer Res 2012 1.20
7 Homozygous mutations in PXDN cause congenital cataract, corneal opacity, and developmental glaucoma. Am J Hum Genet 2011 1.08
8 Recessive mutations in TSPAN12 cause retinal dysplasia and severe familial exudative vitreoretinopathy (FEVR). Invest Ophthalmol Vis Sci 2012 1.07
9 Evaluation of pediatric sensorineural hearing loss with magnetic resonance imaging. Arch Otolaryngol Head Neck Surg 2008 1.06
10 Prostaglandin transporter mutations cause pachydermoperiostosis with myelofibrosis. Hum Mutat 2012 1.06
11 Mutations in MEGF10, a regulator of satellite cell myogenesis, cause early onset myopathy, areflexia, respiratory distress and dysphagia (EMARDD). Nat Genet 2011 1.02
12 The keratins of the human beard hair medulla: the riddle in the middle. J Invest Dermatol 2010 0.93
13 Next generation sequencing identifies mutations in Atonal homolog 7 (ATOH7) in families with global eye developmental defects. Hum Mol Genet 2011 0.84
14 Quantification of the relative age effect in three indices of physical performance. J Strength Cond Res 2013 0.82
15 Genetic heterogeneity for recessively inherited congenital cataract microcornea with corneal opacity. Invest Ophthalmol Vis Sci 2011 0.80
16 Microbiology of acute otitis media with tympanostomy tubes. Otolaryngol Head Neck Surg 2005 0.79