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A novel NHS mutation causes Nance-Horan Syndrome in a Chinese family. BMC Med Genet (2017) 0.75

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Population genetic studies of retinitis pigmentosa. Am J Hum Genet (1980) 3.51

Usher syndrome 1D and nonsyndromic autosomal recessive deafness DFNB12 are caused by allelic mutations of the novel cadherin-like gene CDH23. Am J Hum Genet (2000) 3.48

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Multiple pterygium syndrome. Am J Dis Child (1978) 1.71

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Assignment of congenital cataract Volkmann type (CCV) to chromosome 1p36. Hum Genet (1995) 1.63

Pycnodysostosis, with a familial chromosome anomaly. Am J Med (1966) 1.60

Hydrocephaly, congenital retinal nonattachment, and congenital falciform fold. Am J Ophthalmol (1978) 1.57

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Isolation of a candidate gene for Norrie disease by positional cloning. Nat Genet (1992) 1.55

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Microtropia. A newly defined entity. Arch Ophthalmol (1967) 1.53

Systemic membrane defect in the proximal muscular dystrophies. N Engl J Med (1978) 1.52

II. Recent innovations in human genetics education: The curricularization of McKusick. Am J Hum Genet (1987) 1.49

Astrocytic tumors of the retina. Differentiation of sporadic tumors from phakomatosis-associated tumors. Arch Pathol Lab Med (1984) 1.49

Education policy and the heritability of educational attainment. Nature (1985) 1.48

Relationship between degree of anisometropia and depth of amblyopia. Am J Ophthalmol (1966) 1.48

Preimplantation genetic testing for Huntington disease and certain other dominantly inherited disorders. Clin Genet (1996) 1.46

Subretinal neovascularization in a 10-year-old child. J Pediatr Ophthalmol Strabismus (1992) 1.39

Genetic analysis in families with van der Woude syndrome. J Craniofac Genet Dev Biol (1985) 1.37

Human salivary amylase: genetics of electrophoretic variants. Am J Hum Genet (1971) 1.33

A genetic study of anodontia in X-linked hypohidrotic ectodermal dysplasia. Am J Hum Genet (1980) 1.31

Trapezoidocephaly, midfacial hypoplasia and cartilage abnormalities with multiple synostoses and skeletal fractures. Birth Defects Orig Artic Ser (1975) 1.29

Incidence of cleft lip and palate in the offspring of cleft parents. Clin Genet (1971) 1.29

Interstitial deletion 1p in a 30 year old woman. J Med Genet (1987) 1.29

Familial branchio-oto-renal dysplasia: a new addition to the branchial arch syndromes. Clin Genet (1976) 1.28

Attitudes of deaf and hard of hearing subjects towards genetic testing and prenatal diagnosis of hearing loss. J Med Genet (2002) 1.28

Simplified method for collection of pure submandibular saliva in large volumes. J Dent Res (1968) 1.28

The Nance-Horan syndrome: a rare X-linked ocular-dental trait with expression in heterozygous females. Clin Genet (1984) 1.27

Genetic Control of Hemoglobin Synthesis. Science (1963) 1.27

Effects of chorion type on variation in cord blood cholesterol of monozygotic twins. Am J Hum Genet (1976) 1.26

Urorectal septum malformation sequence. Report of six cases and embryological analysis. Am J Dis Child (1987) 1.26

Progressive overcorrection after inferior rectus recession. J Pediatr Ophthalmol Strabismus (1993) 1.25

Clinical heterogeneity in 80 home-reared children with cri du chat syndrome. J Pediatr (1983) 1.24

Autosomal recessive oculocutaneous albinism in man. Evidence for genetic heterogeneity. Am J Hum Genet (1970) 1.23

Spondylocostal dysostosis associated with anal and urogenital anomalies in a Mennonite sibship. Am J Med Genet (1981) 1.21

Phenotypic variation in the popliteal pterygium syndrome. Clin Genet (1973) 1.21

Apparent cri-du-chat and "antimongolism" in one patient. Lancet (1966) 1.20

Genetic counseling for the hearing impaired. Audiology (1972) 1.20

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The acrocephalosyndactyly syndromes: a metacarpophalangeal pattern profile analysis. Clin Genet (1977) 1.18

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Novel mutations of TMPRSS3 in four DFNB8/B10 families segregating congenital autosomal recessive deafness. J Med Genet (2001) 1.17

A molecular analysis of the yemenite deaf-blind hypopigmentation syndrome: SOX10 dysfunction causes different neurocristopathies. Hum Mol Genet (1999) 1.17

Surgical treatment of congenital esotropia. Am J Ophthalmol (1983) 1.17

X-linked retinitis pigmentosa: linkage with the centromere and a cloned DNA sequence from the proximal short arm of the X chromosome. Hum Genet (1985) 1.17

Extraocular muscle lacerations. Am J Ophthalmol (1976) 1.16

The response of primary care physicians to problem drinkers. Am J Drug Alcohol Abuse (1987) 1.16

The trochlea. A study of the anatomy and physiology. Ophthalmology (1982) 1.16

X-linked mixed deafness with congenital fixation of the stapedial footplate and perilymphatic gusher. Birth Defects Orig Artic Ser (1971) 1.15

Norrie's disease--differential diagnosis and treatment. Acta Ophthalmol (Copenh) (1975) 1.15

Mutation in the mitochondrial 12S rRNA gene in two families from Mongolia with matrilineal aminoglycoside ototoxicity. J Med Genet (1997) 1.15

Mutations in connexin31 underlie recessive as well as dominant non-syndromic hearing loss. Hum Mol Genet (2000) 1.15

On the classification of the acrocephalosyndactyly syndromes. Clin Genet (1977) 1.15

Heterogenous point mutations in the mitochondrial tRNA Ser(UCN) precursor coexisting with the A1555G mutation in deaf students from Mongolia. Am J Hum Genet (1999) 1.14

Norrie's disease. A congenital progressive oculo-acoustico-cerebral degeneration. Acta Ophthalmol (Copenh) (1966) 1.14

Orientation of loci within the human major histocompatibility complex by chromosomal in situ hybridization. Proc Natl Acad Sci U S A (1984) 1.14

Human blood pressure and the ABO blood group system: an apparent association. Hum Biol (1965) 1.14

Congenital blepharoptosis, anisometropia, and amblyopia. Am J Ophthalmol (1980) 1.14

Linkage studies in a large kindred with hereditary pancreatitis confirms mapping of the gene to a 16-cM region on 7q. Genomics (1996) 1.14

Doyne Memorial Lecture, 1979. Retinal malformations: aetiological heterogeneity and morphological similarity in congenital retinal non-attachment and falciform folds. Trans Ophthalmol Soc U K (1979) 1.13

Augmented recession of the medial recti. Ophthalmology (1978) 1.13

Mutations in the candidate gene for Norrie disease. Hum Mol Genet (1992) 1.13

Surgical results of secondary glaucomas in childhood. Ophthalmology (1998) 1.11

Cyclic strabismus. Am Orthopt J (1973) 1.09

Diagnostic criteria for the whistling face syndrome. Birth Defects Orig Artic Ser (1975) 1.09

Mutations in GJA1 (connexin 43) are associated with non-syndromic autosomal recessive deafness. Hum Mol Genet (2001) 1.08

Femoral duplication: a case report. Am J Med Genet (1989) 1.07

Prenatal detection of a familial nuchal bleb simulating encephalocele. Birth Defects Orig Artic Ser (1979) 1.07

Hypertelorism, microtia, and facial clefting. A newly described inherited syndrome. Am J Dis Child (1969) 1.07

Periodontosis: a phenotypic and genetic analysis. Oral Surg Oral Med Oral Pathol (1976) 1.07

Bivariate genetic analysis of left ventricular mass and weight in pubertal twins (the Medical College of Virginia twin study). Am J Cardiol (1991) 1.07

Strabismus in infancy. Ophthalmology (1989) 1.07

Trisomy 8 syndrome. Pediatrics (1975) 1.06

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Stereopsis in normal infants and infants with congenital esotropia. Am J Ophthalmol (1986) 1.06

Visual impairment in Nordic children. I. Nordic registers and prevalence data. Acta Ophthalmol (Copenh) (1992) 1.05

Quantitative studies of glucose-6-phosphate dehydrogenase. Am J Hum Genet (1977) 1.05

A-exotropia, alternating sursumduction, and superior oblique overaction. Am J Ophthalmol (1969) 1.04