Published in N Engl J Med on July 08, 1982
A causal analysis of birth weight in the offspring of monozygotic twins. Am J Hum Genet (1983) 0.87
Prescribing in pregnancy. Epilepsy and anticonvulsant drugs. Br Med J (Clin Res Ed) (1987) 0.75
Phenomenology of prolonged febrile seizures: results of the FEBSTAT study. Neurology (2008) 3.83
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
Molecular characterisation of the 22q13 deletion syndrome supports the role of haploinsufficiency of SHANK3/PROSAP2 in the major neurological symptoms. J Med Genet (2003) 3.25
Determinants of mortality in status epilepticus. Epilepsia (1994) 3.03
A comparison of rectal diazepam gel and placebo for acute repetitive seizures. N Engl J Med (1998) 2.82
A prospective, population-based epidemiologic study of status epilepticus in Richmond, Virginia. Neurology (1996) 2.69
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
Epidemiology of status epilepticus. J Clin Neurophysiol (1995) 2.48
Genetic epidemiological studies of early-onset deafness in the U.S. school-age population. Am J Med Genet (1993) 2.48
Paracentric inversions in humans: a review of 446 paracentric inversions with presentation of 120 new cases. Am J Med Genet (1995) 2.39
Genetic factors in determining bone mass. J Clin Invest (1973) 2.35
Lamotrigine-associated rash: risk/benefit considerations in adults and children. Epilepsia (1999) 2.29
Practice parameter: medical treatment of infantile spasms: report of the American Academy of Neurology and the Child Neurology Society. Neurology (2004) 2.19
Deletion of Huntington's disease-linked G8 (D4S10) locus in Wolf-Hirschhorn syndrome. Nature (1985) 2.19
Autism and maternally derived aberrations of chromosome 15q. Am J Med Genet (1998) 2.16
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
Lumping or splitting? "Ophthalmoplegia-plus" or Kearns-Sayre syndrome? Ann Neurol (1977) 1.90
Detection of submicroscopic deletions in band 17p13 in patients with the Miller-Dieker syndrome. Am J Hum Genet (1988) 1.83
Verification of the fetal valproate syndrome phenotype. Am J Med Genet (1988) 1.71
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
Vascular steal: the pathogenetic mechanism producing sirenomelia and associated defects of the viscera and soft tissues. Pediatrics (1986) 1.60
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
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
Education policy and the heritability of educational attainment. Nature (1985) 1.48
Evidence that methylation of the FMR-I locus is responsible for variable phenotypic expression of the fragile X syndrome. Am J Hum Genet (1993) 1.47
Preimplantation genetic testing for Huntington disease and certain other dominantly inherited disorders. Clin Genet (1996) 1.46
Utility of electroencephalography in the pediatric emergency department. J Child Neurol (2001) 1.44
Spectral karyotyping refines cytogenetic diagnostics of constitutional chromosomal abnormalities. Hum Genet (1997) 1.33
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
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
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
In whom does status epilepticus occur: age-related differences in children. Epilepsia (1997) 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
Phenotypic variation in the popliteal pterygium syndrome. Clin Genet (1973) 1.21
Spondylocostal dysostosis associated with anal and urogenital anomalies in a Mennonite sibship. Am J Med Genet (1981) 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
Novel mutations of TMPRSS3 in four DFNB8/B10 families segregating congenital autosomal recessive deafness. J Med Genet (2001) 1.17
Lamotrigine therapy for partial seizures: a multicenter, placebo-controlled, double-blind, cross-over trial. Epilepsia (1994) 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
Status epilepticus in children, adults, and the elderly. Epilepsia (1992) 1.12
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
Trisomy 8 syndrome. Pediatrics (1975) 1.06
Parental determinants of birth weight. Clin Genet (1984) 1.06
Quantitative studies of glucose-6-phosphate dehydrogenase. Am J Hum Genet (1977) 1.05
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
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
Partitioned twin analysis: a power study. Behav Genet (1989) 1.02
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
Genetic analysis of dermatoglyphic patterns in twins. Hum Hered (1975) 1.02
Autosomal dominant branchiootorenal dysplasia. Birth Defects Orig Artic Ser (1975) 1.01
Brachmann-de Lange syndrome: diagnostic difficulties posed by the mild phenotype. Am J Med Genet (1993) 1.01
Microsatellite analysis reveals a high incidence of maternal cell contamination in 46,XX products of conception consisting of villi or a combination of villi and membranous material. Am J Obstet Gynecol (2001) 1.01
Inverted duplication of 8p: ten new patients and review of the literature. Am J Med Genet (1993) 0.99
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
Two sisters with a distal deletion at the Xq26/Xq27 interface: DNA studies indicate that the gene locus for factor IX is present. Hum Genet (1987) 0.98
Amish albinism: a distinctive autosomal recessive phenotype. Am J Hum Genet (1970) 0.98
Cognitive and behavioral effects of antiepileptic drugs. Epilepsy Behav (2001) 0.97
Ganaxolone for treating intractable infantile spasms: a multicenter, open-label, add-on trial. Epilepsy Res (2000) 0.97
Rectal diazepam gel for treatment of acute repetitive seizures. The North American Diastat Study Group. Pediatr Neurol (1999) 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
Status and prospects of research in hereditary deafness. Adv Hum Genet (1973) 0.95
Univariate genetic analyses of epilepsy and seizures in a population-based twin study: the Virginia Twin Registry. Genet Epidemiol (1998) 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
Homozygous FGF3 mutations result in congenital deafness with inner ear agenesis, microtia, and microdontia. Clin Genet (2008) 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
Beclomethasone mania. Br J Psychiatry (1989) 0.94
Split foot and developmental retardation associated with a deletion of three microsatellite markers in 7q21.2-q22.1. Clin Genet (1995) 0.94
Genetic linkage analysis of human hemoglobin variants. Am J Hum Genet (1970) 0.93
DNA methylation analysis with respect to prenatal diagnosis of the Angelman and Prader-Willi syndromes and imprinting. Prenat Diagn (2000) 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