Published in N Engl J Med on October 19, 1978
Metabolism and possible health effects of aluminum. Environ Health Perspect (1986) 1.64
Carrier detection in Duchenne muscular dystrophy. Evidence from a study of obligatory carriers and mothers of isolated cases. Arch Dis Child (1979) 1.43
The genetic status of mothers of isolated cases of Duchenne muscular dystrophy. J Med Genet (1983) 1.32
A genetic study of anodontia in X-linked hypohidrotic ectodermal dysplasia. Am J Hum Genet (1980) 1.31
No sex difference in mutations rates of Duchenne muscular dystrophy. J Med Genet (1980) 1.18
Decreased lysosomal dipeptidyl aminopeptidase I activity in cultured human skin fibroblasts in Duchenne's muscular dystrophy. J Clin Invest (1980) 0.97
Increased membrane permeability to chloride in Duchenne muscular dystrophy fibroblasts and its relationship to muscle function. Proc Natl Acad Sci U S A (1983) 0.90
Estimation of male to female ratio of mutation rates from carrier-detection tests in X-linked disorders. Am J Hum Genet (1980) 0.90
Structural changes in lysosomes from cultured human fibroblasts in Duchenne's muscular dystrophy. J Cell Biol (1981) 0.81
Lymphocyte capping in myotonic dystrophy. J Neurol Neurosurg Psychiatry (1983) 0.78
Carrier detection in Duchenne muscular dystrophy. J Med Genet (1980) 0.76
Impaired HLA capping capacity of peripheral blood lymphocytes in Duchenne muscular dystrophy. J Med Genet (1984) 0.75
Lymphocyte capping and carrier detection in Duchenne muscular dystrophy. Br Med J (1978) 0.75
Diagnostic criteria for Walker-Warburg syndrome. Am J Med Genet (1989) 3.74
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
Updating McKusick: an educational exercise for medical students. Am J Med Genet (1986) 3.47
Origins and frequencies of SLC26A4 (PDS) mutations in east and south Asians: global implications for the epidemiology of deafness. J Med Genet (2003) 2.52
Genetic epidemiological studies of early-onset deafness in the U.S. school-age population. Am J Med Genet (1993) 2.48
Genetic factors in determining bone mass. J Clin Invest (1973) 2.35
A novel deletion involving the connexin-30 gene, del(GJB6-d13s1854), found in trans with mutations in the GJB2 gene (connexin-26) in subjects with DFNB1 non-syndromic hearing impairment. J Med Genet (2005) 2.11
A newly recognized dwarfing syndrome. Am J Dis Child (1969) 1.87
Robin sequence and oligodactyly in mother and son. Am J Med Genet (1986) 1.82
SLC26A4/PDS genotype-phenotype correlation in hearing loss with enlargement of the vestibular aqueduct (EVA): evidence that Pendred syndrome and non-syndromic EVA are distinct clinical and genetic entities. J Med Genet (2005) 1.71
Predicting zygosity in Norwegian twin pairs born 1915-1960. Clin Genet (1983) 1.68
Genetic models for the analysis of data from the families of identical twins. Genetics (1976) 1.67
Acrocephalopolysyndactyly, type Noack, in a large kindred. Birth Defects Orig Artic Ser (1975) 1.66
Pycnodysostosis, with a familial chromosome anomaly. Am J Med (1966) 1.60
Dermatoglyphic nomogram for the diagnosis of Down's syndrome. J Pediatr (1970) 1.56
Myelocystocele-cloacal exstrophy in a pedigree with a mitochondrial 12S rRNA mutation, aminoglycoside-induced deafness, pigmentary disturbances, and spinal anomalies. Teratology (2000) 1.54
II. Recent innovations in human genetics education: The curricularization of McKusick. Am J Hum Genet (1987) 1.49
Education policy and the heritability of educational attainment. Nature (1985) 1.48
Mucolipidosis III (pseudo-Hurler polydystrophy): Clinical and laboratory studies in a series of 12 patients. Johns Hopkins Med J (1975) 1.48
Preimplantation genetic testing for Huntington disease and certain other dominantly inherited disorders. Clin Genet (1996) 1.46
Acrodysostosis. A syndrome of peripheral dysostosis, nasal hypoplasia, and mental retardation. Am J Dis Child (1971) 1.38
The genetic status of mothers of isolated cases of Duchenne muscular dystrophy. J Med Genet (1983) 1.32
A genetic study of anodontia in X-linked hypohidrotic ectodermal dysplasia. Am J Hum Genet (1980) 1.31
Congenital X-linked cataract, dental anomalies and brachymetacarpalia. Birth Defects Orig Artic Ser (1974) 1.30
Distichiasis-lymphedema. A hereditary syndrome of multiple congenital defects. Am J Dis Child (1970) 1.30
Attitudes of deaf and hard of hearing subjects towards genetic testing and prenatal diagnosis of hearing loss. J Med Genet (2002) 1.28
Familial branchio-oto-renal dysplasia: a new addition to the branchial arch syndromes. Clin Genet (1976) 1.28
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
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
A case of hyperlysinemia: biochemical and clinical observations. Pediatrics (1967) 1.20
Genetic counseling for the hearing impaired. Audiology (1972) 1.20
Novel mutations of TMPRSS3 in four DFNB8/B10 families segregating congenital autosomal recessive deafness. J Med Genet (2001) 1.17
Phospholipase A2 and arachidonate increase in bronchoalveolar lavage fluid after inhaled antigen challenge in asthmatics. Am J Respir Crit Care Med (1997) 1.16
X-linked mixed deafness with congenital fixation of the stapedial footplate and perilymphatic gusher. Birth Defects Orig Artic Ser (1971) 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
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
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
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
Longitudinal fibre splitting in muscular dystrophy: a serial cinematographic study. J Neurol Neurosurg Psychiatry (1973) 1.10
Five year results of LINAC radiosurgery for arteriovenous malformations: outcome for large AVMS. Int J Radiat Oncol Biol Phys (1999) 1.10
Mutations in GJA1 (connexin 43) are associated with non-syndromic autosomal recessive deafness. Hum Mol Genet (2001) 1.08
Prenatal detection of a familial nuchal bleb simulating encephalocele. Birth Defects Orig Artic Ser (1979) 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
Femoral duplication: a case report. Am J Med Genet (1989) 1.07
Utility of commonly used commercial human chorionic gonadotropin immunoassays in the diagnosis and management of trophoblastic diseases. Clin Chem (2001) 1.07
Trisomy 8 syndrome. Pediatrics (1975) 1.06
Parental determinants of birth weight. Clin Genet (1984) 1.06
Localization of multiple neurotransmitters in surgically derived specimens of human atrial ganglia. Neuroscience (2009) 1.06
Quantitative studies of glucose-6-phosphate dehydrogenase. Am J Hum Genet (1977) 1.05
Prognostic significance of ventricular CSF lactic acidosis in severe head injury. J Neurosurg (1986) 1.04
The van der Woude syndrome in a large kindred: variability, penetrance, genetic risks. Am J Med Genet (1980) 1.04
Ehlers-Danlos syndrome type VIIA and VIIB result from splice-junction mutations or genomic deletions that involve exon 6 in the COL1A1 and COL1A2 genes of type I collagen. Am J Med Genet (1997) 1.03
Clinical findings in four children with biotinidase deficiency detected through a statewide neonatal screening program. N Engl J Med (1985) 1.03
One X and four hypotheses: response to Lehrke's "A Theory of X-Linkage of Major Intellectual Traits. Am J Ment Defic (1972) 1.03
Sampling variances in twin and sibling studies of man. Hum Hered (1974) 1.03
Standards for limb bone length ratios in children. Radiology (1982) 1.03
Symposium on sensorineural hearing loss in children: early detection and intervention. Genetic factors in deafness of early life. Otolaryngol Clin North Am (1975) 1.03
The epidemiology of pregnancy complications and outcome in a Norwegian twin population. Obstet Gynecol (1992) 1.03
Letter: Note on the analysis of twin data. Am J Hum Genet (1976) 1.02
Correlation between Waardenburg syndrome phenotype and genotype in a population of individuals with identified PAX3 mutations. Hum Genet (1998) 1.02
Partitioned twin analysis: a power study. Behav Genet (1989) 1.02
Genetic analysis of dermatoglyphic patterns in twins. Hum Hered (1975) 1.02
Autosomal dominant branchiootorenal dysplasia. Birth Defects Orig Artic Ser (1975) 1.01
Stain intensity of human nucleolus organizer region reflects incorporation of uridine into mature ribosomal RNA. Exp Cell Res (1983) 0.99
Anencephaly and spina bifida: a possible example of cytoplasmic inheritance in man. Nature (1969) 0.99
Further comments on the genetics of prelingual deafness. Am J Hum Genet (1989) 0.98
Amish albinism: a distinctive autosomal recessive phenotype. Am J Hum Genet (1970) 0.98
The McKusick-Kaufman syndrome: recessively inherited vaginal atresia, hydrometrocolpos, uterovaginal duplications, anorectal anomalies, postaxial polydactyly, and congenital heart disease. J Pediatr (1979) 0.97
Aglossia-adactylia. Radiology (1978) 0.96
Goldenhar complex in discordant monozygotic twins: a case report and review of the literature. Am J Med Genet (1987) 0.96
Genetic linkage studies in a Negro kindred with Norrie's disease. Am J Hum Genet (1969) 0.95
Homozygous FGF3 mutations result in congenital deafness with inner ear agenesis, microtia, and microdontia. Clin Genet (2008) 0.95
Genetic studies of an acardiac monster: evidence of polar body twinning in man. Science (1981) 0.95
Epidemiological studies on hearing impairment with reference to genetic factors in Sichuan, China. Ann Otol Rhinol Laryngol (2001) 0.95
Status and prospects of research in hereditary deafness. Adv Hum Genet (1973) 0.95
Human cytogenetics: a brief review and presentation of new findings. J Bone Joint Surg Am (1967) 0.95
Nucleolar organizer region variants as a risk factor for Down syndrome. Am J Hum Genet (1985) 0.94
Discordance in monozygotic twins for aglossia-adactylia, and possible clues to the pathogenesis of the syndrome. Birth Defects Orig Artic Ser (1978) 0.93
Aicardi syndrome, papilloma of the choroid plexus, cleft lip, and cleft of the posterior palate. J Pediatr (1984) 0.93
Stimulation of secretion of gastric inhibitory polypeptide and insulin by intraduodenal amino acid perfusion. Gastroenterology (1976) 0.93
Genetic linkage analysis of human hemoglobin variants. Am J Hum Genet (1970) 0.93
A novel locus for autosomal dominant non-syndromic deafness (DFNA41) maps to chromosome 12q24-qter. J Med Genet (2002) 0.93
Effects of type of placentation on birthweight and its variability in monozygotic and dizygotic twins. Acta Genet Med Gemellol (Roma) (1979) 0.93
Linkage analysis using heterozygote detection in phenylketonuria. Clin Genet (1979) 0.92
Phenotypic variation in Waardenburg syndrome: mutational heterogeneity, modifier genes or polygenic background? Hum Mol Genet (1996) 0.92
USH1C: a rare cause of USH1 in a non-Acadian population and a founder effect of the Acadian allele. Clin Genet (2003) 0.92
Classification of albinism in man. Birth Defects Orig Artic Ser (1971) 0.91
The first seriatim study of human growth and middle aging. Am J Phys Anthropol (1981) 0.91
Self-reported periodontal disease in a Virginia twin population. J Periodontol (1993) 0.91
Skeletal lesions following meningococcemia and disseminated intravascular coagulation. A recognizable skeletal dystrophy. Am J Dis Child (1983) 0.91
Coarctation of the aorta inherited as an autosomal dominant trait. Am J Cardiol (1985) 0.91
Diminished cap formation in lymphocytes from patients and carriers of Duchenne muscular dystrophy. Clin Chem (1977) 0.90