Published in Hum Mol Genet on August 01, 1995
Digenic inheritance of early-onset glaucoma: CYP1B1, a potential modifier gene. Am J Hum Genet (2002) 2.13
A second locus for Rieger syndrome maps to chromosome 13q14. Am J Hum Genet (1996) 1.55
Molecular genetics of the glaucomas: mapping of the first five "GLC" loci. Am J Hum Genet (1997) 1.29
Autosomal dominant iridogoniodysgenesis anomaly maps to 6p25. Am J Hum Genet (1996) 1.25
Familial glaucoma iridogoniodysplasia maps to a 6p25 region implicated in primary congenital glaucoma and iridogoniodysgenesis anomaly. Am J Hum Genet (1997) 1.05
Autosomal dominant Axenfeld-Rieger anomaly maps to 6p25. Am J Hum Genet (1997) 1.03
Mapping of a congenital microcoria locus to 13q31-q32. Am J Hum Genet (1998) 0.91
Rieger syndrome locus: a new reciprocal translocation t(4;12)(q25;q15) and a deletion del(4)(q25q27) both break between markers D4S2945 and D4S193. J Med Genet (1997) 0.90
Genetic heterogeneity of primary open angle glaucoma and ocular hypertension: linkage to GLC1A associated with an increased risk of severe glaucomatous optic neuropathy. J Med Genet (1997) 0.90
Closing in on the Rieger syndrome gene on 4q25: mapping translocation breakpoints within a 50-kb region. Am J Hum Genet (1996) 0.88
A novel Asp380Ala mutation in the GLC1A/myocilin gene in a family with juvenile onset primary open angle glaucoma. J Med Genet (1998) 0.85
Exclusion of epidermal growth factor and high-resolution physical mapping across the Rieger syndrome locus. Am J Hum Genet (1996) 0.82
A novel PITX2 mutation causing iris hypoplasia. Hum Genome Var (2014) 0.75
Comprehensive human genetic maps: individual and sex-specific variation in recombination. Am J Hum Genet (1998) 19.35
Identification of a gene that causes primary open angle glaucoma. Science (1997) 8.14
Mutations in the SMAD4/DPC4 gene in juvenile polyposis. Science (1998) 7.08
Mutation of a nuclear receptor gene, NR2E3, causes enhanced S cone syndrome, a disorder of retinal cell fate. Nat Genet (2000) 4.81
Acute hepatitis B virus infection: relation of age to the clinical expression of disease and subsequent development of the carrier state. J Infect Dis (1985) 4.47
Pendred syndrome is caused by mutations in a putative sulphate transporter gene (PDS). Nat Genet (1997) 4.43
Cloning and sequencing of a deoxyribonucleic acid copy of glyceraldehyde-3-phosphate dehydrogenase messenger ribonucleic acid isolated from chicken muscle. Biochemistry (1983) 4.28
Cloning and characterization of a novel bicoid-related homeobox transcription factor gene, RIEG, involved in Rieger syndrome. Nat Genet (1996) 4.21
A comprehensive human linkage map with centimorgan density. Cooperative Human Linkage Center (CHLC). Science (1994) 4.02
A genetic linkage map for cattle. Genetics (1994) 3.64
Haemolytic uraemic syndromes in the British Isles, 1985-8: association with verocytotoxin producing Escherichia coli. Part 2: Microbiological aspects. Arch Dis Child (1990) 3.51
Mutations in the chloride channel gene, CLCNKB, cause Bartter's syndrome type III. Nat Genet (1997) 3.51
A collection of tri- and tetranucleotide repeat markers used to generate high quality, high resolution human genome-wide linkage maps. Hum Mol Genet (1995) 3.44
A single EFEMP1 mutation associated with both Malattia Leventinese and Doyne honeycomb retinal dystrophy. Nat Genet (1999) 3.32
The sensitivity of single-strand conformation polymorphism analysis for the detection of single base substitutions. Genomics (1993) 3.25
The forkhead transcription factor gene FKHL7 is responsible for glaucoma phenotypes which map to 6p25. Nat Genet (1998) 3.24
Analysis of myocilin mutations in 1703 glaucoma patients from five different populations. Hum Mol Genet (1999) 3.24
Clinical features associated with mutations in the chromosome 1 open-angle glaucoma gene (GLC1A) N Engl J Med (1998) 3.18
Genetic linkage of familial open angle glaucoma to chromosome 1q21-q31. Nat Genet (1993) 3.12
Integrated human genome-wide maps constructed using the CEPH reference panel. Nat Genet (1994) 3.06
Missense mutations in COL8A2, the gene encoding the alpha2 chain of type VIII collagen, cause two forms of corneal endothelial dystrophy. Hum Mol Genet (2001) 3.06
Haemolytic uraemic syndromes in the British Isles 1985-8: association with verocytotoxin producing Escherichia coli. Part 1: Clinical and epidemiological aspects. Arch Dis Child (1990) 3.04
Nonsyndromic autosomal recessive deafness is linked to the DFNB1 locus in a large inbred Bedouin family from Israel. Am J Hum Genet (1995) 3.02
Nocturnal arterial hypotension and its role in optic nerve head and ocular ischemic disorders. Am J Ophthalmol (1994) 2.89
A classification of hemolytic uremic syndrome and thrombotic thrombocytopenic purpura and related disorders. Kidney Int (2006) 2.85
A novel homeobox gene PITX3 is mutated in families with autosomal-dominant cataracts and ASMD. Nat Genet (1998) 2.82
Serological identification of Escherichia coli O157:H7 infection in haemolytic uraemic syndrome. Lancet (1991) 2.80
Identification of the gene that, when mutated, causes the human obesity syndrome BBS4. Nat Genet (2001) 2.77
Rapid restoration of visual pigment and function with oral retinoid in a mouse model of childhood blindness. Proc Natl Acad Sci U S A (2000) 2.60
Positional cloning of a novel gene on chromosome 16q causing Bardet-Biedl syndrome (BBS2). Hum Mol Genet (2001) 2.56
Carrier rates in the midwestern United States for GJB2 mutations causing inherited deafness. JAMA (1999) 2.56
De novo mutations in the CRX homeobox gene associated with Leber congenital amaurosis. Nat Genet (1998) 2.53
Identification of a Bardet-Biedl syndrome locus on chromosome 3 and evaluation of an efficient approach to homozygosity mapping. Hum Mol Genet (1994) 2.52
Use of a DNA pooling strategy to identify a human obesity syndrome locus on chromosome 15. Hum Mol Genet (1995) 2.50
Haemolytic-uraemic syndrome: clinical experience of an outbreak in the West Midlands. Br Med J (Clin Res Ed) (1986) 2.47
Mutations in MKKS cause Bardet-Biedl syndrome. Nat Genet (2000) 2.45
Complement factor H gene mutation associated with autosomal recessive atypical hemolytic uremic syndrome. Am J Hum Genet (1999) 2.42
Mutations in the CRB1 gene cause Leber congenital amaurosis. Arch Ophthalmol (2001) 2.38
The Pendred syndrome gene encodes a chloride-iodide transport protein. Nat Genet (1999) 2.32
Haploinsufficiency of the transcription factors FOXC1 and FOXC2 results in aberrant ocular development. Hum Mol Genet (2000) 2.32
Changes in the postenteropathic form of the hemolytic uremic syndrome in children. Clin Nephrol (1991) 2.28
Butterfly-shaped pigment dystrophy of the fovea caused by a point mutation in codon 167 of the RDS gene. Nat Genet (1993) 2.24
Pitfalls in homozygosity mapping. Am J Hum Genet (2000) 2.12
Novel ATP6V1B1 and ATP6V0A4 mutations in autosomal recessive distal renal tubular acidosis with new evidence for hearing loss. J Med Genet (2002) 2.11
The conserved core of a human SIR2 homologue functions in yeast silencing. Mol Biol Cell (1999) 2.07
Linkage of Bardet-Biedl syndrome to chromosome 16q and evidence for non-allelic genetic heterogeneity. Nat Genet (1993) 2.05
Phenotypic variation including retinitis pigmentosa, pattern dystrophy, and fundus flavimaculatus in a single family with a deletion of codon 153 or 154 of the peripherin/RDS gene. Arch Ophthalmol (1993) 2.05
Clinical features of a Stargardt-like dominant progressive macular dystrophy with genetic linkage to chromosome 6q. Arch Ophthalmol (1994) 2.05
Improved set of short-tandem-repeat polymorphisms for screening the human genome. Am J Hum Genet (1997) 2.03
Sets of short tandem repeat polymorphisms for efficient linkage screening of the human genome. Hum Mol Genet (1995) 1.99
Variation of clinical expression in patients with Stargardt dystrophy and sequence variations in the ABCR gene. Arch Ophthalmol (1999) 1.94
Failure of formation of 1,25-dihydroxycholecalciferol in chronic renal insufficiency. Lancet (1973) 1.94
An analysis of allelic variation in the ABCA4 gene. Invest Ophthalmol Vis Sci (2001) 1.90
Mutation analysis of 3 genes in patients with Leber congenital amaurosis. Arch Ophthalmol (2000) 1.89
Novel approaches to linkage mapping. Curr Opin Genet Dev (1995) 1.87
Peptide synthesis catalyzed by an antibody containing a binding site for variable amino acids. Science (1994) 1.85
Allelic variation in the VMD2 gene in best disease and age-related macular degeneration. Invest Ophthalmol Vis Sci (2000) 1.84
Allelic variation in ABCR associated with Stargardt disease but not age-related macular degeneration. Nat Genet (1998) 1.80
Examination of AVPR1a as an autism susceptibility gene. Mol Psychiatry (2004) 1.80
Genetic linkage of vitelliform macular degeneration (Best's disease) to chromosome 11q13. Nat Genet (1992) 1.77
Pendred syndrome, DFNB4, and PDS/SLC26A4 identification of eight novel mutations and possible genotype-phenotype correlations. Hum Mutat (2001) 1.77
Disease sequence from mutant rhodopsin allele to rod and cone photoreceptor degeneration in man. Proc Natl Acad Sci U S A (1998) 1.75
An evaluation of multiple trauma severity indices created by different index development strategies. Med Care (1983) 1.74
Linkage analysis of autosomal dominant atrioventricular canal defects: exclusion of chromosome 21. Hum Genet (1994) 1.72
Localization of the Usher syndrome type ID gene (Ush1D) to chromosome 10. Hum Mol Genet (1996) 1.69
Variation of codons 1961 and 2177 of the Stargardt disease gene is not associated with age-related macular degeneration. Arch Ophthalmol (2001) 1.68
Non-secretion of mutant proteins of the glaucoma gene myocilin in cultured trabecular meshwork cells and in aqueous humor. Hum Mol Genet (2001) 1.67