PubRank

Mary J van Schooneveld

Author PubWeight™ 25.31‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 C-terminal truncations in human 3'-5' DNA exonuclease TREX1 cause autosomal dominant retinal vasculopathy with cerebral leukodystrophy. Nat Genet 2007 2.35
2 Homozygosity mapping in patients with cone-rod dystrophy: novel mutations and clinical characterizations. Invest Ophthalmol Vis Sci 2010 1.98
3 Genotype and phenotype of 101 dutch patients with congenital stationary night blindness. Ophthalmology 2013 1.87
4 Homozygosity mapping reveals PDE6C mutations in patients with early-onset cone photoreceptor disorders. Am J Hum Genet 2009 1.72
5 Genetic etiology and clinical consequences of complete and incomplete achromatopsia. Ophthalmology 2009 1.65
6 Progressive loss of cones in achromatopsia: an imaging study using spectral-domain optical coherence tomography. Invest Ophthalmol Vis Sci 2010 1.61
7 Comprehensive analysis of the achromatopsia genes CNGA3 and CNGB3 in progressive cone dystrophy. Ophthalmology 2010 1.40
8 Clinical course, genetic etiology, and visual outcome in cone and cone-rod dystrophy. Ophthalmology 2012 1.34
9 High-resolution homozygosity mapping is a powerful tool to detect novel mutations causative of autosomal recessive RP in the Dutch population. Invest Ophthalmol Vis Sci 2011 1.18
10 Autosomal recessive bestrophinopathy: differential diagnosis and treatment options. Ophthalmology 2013 1.06
11 Venous stasis retinopathy in symptomatic carotid artery occlusion: prevalence, cause, and outcome. Stroke 2002 1.05
12 Mutations in the peripherin/RDS gene are an important cause of multifocal pattern dystrophy simulating STGD1/fundus flavimaculatus. Br J Ophthalmol 2007 1.01
13 Adult-onset dementia and retinitis pigmentosa due to mucopolysaccharidosis III-C in two sisters. J Neurol 2004 0.97
14 Retinal vascular lesions in patients of Caucasian and Asian origin with type 2 diabetes: baseline results from the ADVANCE Retinal Measurements (AdRem) study. Diabetes Care 2008 0.93
15 Clinical and molecular genetic analysis of best vitelliform macular dystrophy. Retina 2009 0.91
16 The conclusions of Clemson et al concerning valproic acid are premature. Br J Ophthalmol 2010 0.90
17 Correspondence. Retina 2015 0.88
18 A homozygous frameshift mutation in LRAT causes retinitis punctata albescens. Ophthalmology 2012 0.86
19 Expanded clinical spectrum of enhanced S-cone syndrome. JAMA Ophthalmol 2013 0.82
20 Course of visual decline in relation to the Best1 genotype in vitelliform macular dystrophy. Ophthalmology 2010 0.82
21 LONG-TERM FOLLOW-UP OF PATIENTS WITH RETINITIS PIGMENTOSA TYPE 12 CAUSED BY CRB1 MUTATIONS: A Severe Phenotype With Considerable Interindividual Variability. Retina 2017 0.78
22 Optical coherence tomography findings for nanophthalmic eyes. Retina 2008 0.76
23 [Severe visual loss caused by autoimmune retinopathy]. Ned Tijdschr Geneeskd 2015 0.75
24 LONG-TERM FOLLOW-UP OF PATIENTS WITH CHOROIDEREMIA WITH SCLERAL PITS AND TUNNELS AS A NOVEL OBSERVATION. Retina 2017 0.75
25 WHITE ANNULAR RETINAL DYSTROPHY WITH SEVERE GLAUCOMA: A New Autosomal Dominant Condition. Retina 2016 0.75
26 Neurological picture. Retinal red spots and white-matter lesions in a 60-year-old man. J Neurol Neurosurg Psychiatry 2010 0.75
27 Amino acid residue 67 (isoleucine) of HLA-DRB is associated with POHS. Invest Ophthalmol Vis Sci 2002 0.75