Published in Am J Hum Genet on January 01, 1981
GM2-Gangliosidosis (Sandhoff and Tay Sachs disease): Diagnosis and Neuroimaging Findings (An Iranian Pediatric Case Series). Iran J Child Neurol (2014) 0.99
Structure and distribution of an Alu-type deletion mutation in Sandhoff disease. J Clin Invest (1990) 0.99
Natural history of infantile G(M2) gangliosidosis. Pediatrics (2011) 0.97
Sandhoff disease heterozygote detection: a component of population screening for Tay-Sachs disease carriers. I. Statistical methods. Am J Hum Genet (1985) 0.84
Five related Lebanese individuals with high plasma lysosomal hydrolases: a new defect in mannose-6-phosphate receptor recognition? Am J Hum Genet (1984) 0.84
Sandhoff disease heterozygote detection: a component of population screening for Tay-Sachs disease carriers. II. Sandhoff disease gene frequencies in American Jewish and non-Jewish populations. Am J Hum Genet (1987) 0.79
Spectrum of paediatric lysosomal storage disorders in oman. Sultan Qaboos Univ Med J (2012) 0.76
Deficient hexozaminidase activity in an exceptional case of Tay-Sachs disease with additional storage of kidney globoside in visceral organs. Life Sci (1968) 1.95
Gm2-gangliosidosis with total hexosaminidase deficiency. Neurology (1971) 1.31
Carrier detection in Sandhoff disease. Am J Hum Genet (1978) 1.19
Two variant hexosaminidase beta-chain alleles segregating in a South African family. Clin Chim Acta (1978) 1.04
A new juvenile hexosaminidase deficiency disease presenting as cerebellar ataxia. Clinical and biochemical studies. Neurology (1977) 1.02
Sandhoff's disease (GM 2 gangliosidosis type 2): clinical, chemical, and enzyme studies in five patients. Pediatr Res (1972) 1.01
Generalized accumulation of neutral glycosphingolipids with GM2 ganglioside accumulation in the brain. Sandhoff's disease (variant of Tay-Sachs disease). Am J Med (1972) 0.95
Sandhoff's disease (GM2gangliosidosis, type 2) in a Scottish family. J Ment Defic Res (1972) 0.83
Brain aluminum distribution in Alzheimer's disease and experimental neurofibrillary degeneration. Trans Am Neurol Assoc (1973) 0.83
[Sandhoff's disease: clinical and genetic study of a French-Canadian child]. Union Med Can (1974) 0.83
INFANTILE AMAUROTIC FAMILY IDIOCY AND GARGOYLISM IN SIBLINGS. Pediatrics (1964) 0.82
Informed consent for genetic research on stored tissue samples. JAMA (1995) 5.54
Neural-tube defects. N Engl J Med (1999) 5.47
Informed consent for population-based research involving genetics. JAMA (2001) 4.10
Determination of inorganic nitrate in serum and urine by a kinetic cadmium-reduction method. Clin Chem (1990) 3.12
Population-based study of congenital heart defects in Down syndrome. Am J Med Genet (1998) 2.74
X-linked hypoxanthine-guanine phosphoribosyl transferase deficiency: heterozygote has two clonal populations. Science (1968) 2.69
Public attitudes regarding the donation and storage of blood specimens for genetic research. Community Genet (2001) 2.66
Phenopedia and Genopedia: disease-centered and gene-centered views of the evolving knowledge of human genetic associations. Bioinformatics (2009) 2.59
Completeness of the discharge diagnoses as a measure of birth defects recorded in the hospital birth record. Am J Epidemiol (1991) 2.49
Contribution of birth defects and genetic diseases to pediatric hospitalizations. A population-based study. Arch Pediatr Adolesc Med (1997) 2.42
Diabetes mellitus during pregnancy and the risks for specific birth defects: a population-based case-control study. Pediatrics (1990) 2.31
Case-only design to measure gene-gene interaction. Epidemiology (1999) 2.30
Minimum sample size estimation to detect gene-environment interaction in case-control designs. Am J Epidemiol (1994) 2.28
Transmission disequilibrium test (TDT) when only one parent is available: the 1-TDT. Am J Epidemiol (1999) 2.15
A population study of the VACTERL association: evidence for its etiologic heterogeneity. Pediatrics (1983) 2.09
Indirect assessment of confounding: graphic description and limits on effect of adjusting for covariates. Epidemiology (1990) 1.95
Chorionic villus sampling and transverse digital deficiencies: evidence for anatomic and gestational-age specificity of the digital deficiencies in two studies. Am J Med Genet (1996) 1.92
The spectrum of congenital anomalies of the VATER association: an international study. Am J Med Genet (1997) 1.91
Commentary: facing the challenge of gene-environment interaction: the two-by-four table and beyond. Am J Epidemiol (2001) 1.87
Epidemiology of biliary atresia: a population-based study. Pediatrics (1997) 1.83
Systematic review and meta-analysis of the use of tranexamic acid in total hip replacement. J Bone Joint Surg Br (2011) 1.79
Hereditary hemochromatosis: gene discovery and its implications for population-based screening. JAMA (1998) 1.73
Periconceptional multivitamin use and the occurrence of conotruncal heart defects: results from a population-based, case-control study. Pediatrics (1996) 1.73
Positional cloning of the gene for Nijmegen breakage syndrome. Nat Genet (1998) 1.73
Localization of the Usher syndrome type ID gene (Ush1D) to chromosome 10. Hum Mol Genet (1996) 1.69
Silencing of CDKN1C (p57KIP2) is associated with hypomethylation at KvDMR1 in Beckwith-Wiedemann syndrome. J Med Genet (2003) 1.68
5,10 Methylenetetrahydrofolate reductase genetic polymorphism as a risk factor for neural tube defects. Am J Med Genet (1996) 1.68
Etiologic heterogeneity of neural tube defects: clues from epidemiology. Am J Epidemiol (1982) 1.66
Translational research in cancer genetics: the road less traveled. Public Health Genomics (2009) 1.65
On the use of population-based registries in the clinical validation of genetic tests for disease susceptibility. Genet Med (2001) 1.64
Population screening for genetic disorders in the 21st century: evidence, economics, and ethics. Public Health Genomics (2009) 1.62
Application of population screening principles to genetic screening for adult-onset conditions. Genet Test (2001) 1.60
The Postoperative Morbidity Survey was validated and used to describe morbidity after major surgery. J Clin Epidemiol (2007) 1.60
Intracranial infection after missile injuries to the brain: report of 30 cases from the Lebanese conflict. Neurosurgery (1991) 1.59
Acute calcific tendinitis of the rectus femoris. J Bone Joint Surg Br (1996) 1.56
Personal genomics: information can be harmful. Eur J Clin Invest (2010) 1.54
Abdominal tuberculosis. Dis Colon Rectum (1987) 1.54
Sample size requirements in case-only designs to detect gene-environment interaction. Am J Epidemiol (1997) 1.53
The return of thalidomide: are birth defects surveillance systems ready? Am J Med Genet (1997) 1.52
Trends and outcomes after prenatal diagnosis of congenital cardiac malformations by fetal echocardiography in a well defined birth population, Atlanta, Georgia, 1990-1994. J Am Coll Cardiol (1996) 1.49
Is mutated MTHFR a risk factor for neural tube defects? Lancet (1996) 1.49
A new method for estimating the risk ratio in studies using case-parental control design. Am J Epidemiol (1998) 1.48
The effect of genetic susceptibility on causal inference in epidemiologic studies. Am J Epidemiol (1987) 1.48
Genetic-epidemiologic study of omphalocele and gastroschisis: evidence for heterogeneity. Am J Med Genet (1992) 1.46
Delta-aminolevulinic acid dehydratase genotype and lead toxicity: a HuGE review. Am J Epidemiol (2001) 1.45
Evolving methods in genetic epidemiology. III. Gene-environment interaction in epidemiologic research. Epidemiol Rev (1997) 1.45
Development of electronic software for the management of trauma patients on the orthopaedic unit. Injury (2009) 1.43
Factors affecting the sex differential in neonatal mortality: the role of respiratory distress syndrome. Am J Obstet Gynecol (1985) 1.42
Phenotype of a patient with pure partial trisomy 2p(p23-->pter). Am J Med Genet (2000) 1.41
Methylene blue for X-ray localization. Surg Neurol (1998) 1.41
Risk of childhood cancer for infants with birth defects. I. A record-linkage study, Atlanta, Georgia, 1968-1988. Am J Epidemiol (1993) 1.41
Re: Percutaneous management of urolithiasis during pregnancy. J Urol (1993) 1.40
Portohepatic shunt in a Down syndrome patient with an interchange trisomy 47,XY,-2,+der(2),+der(21)t(2;21)(p13;q22.1)mat. Am J Med Genet (1992) 1.38
Case-parental control method in the search for disease-susceptibility genes. Am J Hum Genet (1994) 1.38
Prevalence of C282Y and H63D mutations in the hemochromatosis (HFE) gene in the United States. JAMA (2001) 1.33
Hemochromatosis-associated mortality in the United States from 1979 to 1992: an analysis of Multiple-Cause Mortality Data. Ann Intern Med (1998) 1.32
Perception of consanguineous marriages and their genetic effects among a sample of couples from Beirut. Am J Med Genet (1986) 1.29
Advanced maternal age and the risk of Down syndrome characterized by the meiotic stage of chromosomal error: a population-based study. Am J Hum Genet (1996) 1.28
A financial analysis of revision hip arthroplasty: the economic burden in relation to the national tariff. J Bone Joint Surg Br (2012) 1.27
Genetic diseases in Lebanon. Am J Med Genet (1980) 1.23
Increased frequency of cystic fibrosis among infants with jejunoileal atresia. Am J Med Genet (1998) 1.23
Evaluation of birth defect histories obtained through maternal interviews. Am J Hum Genet (1990) 1.22
Metastases to the ureter. Review of the world literature, and three new case reports. J Med Liban (2000) 1.20
Differences in the epidemiology of prematurity and intrauterine growth retardation. Early Hum Dev (1986) 1.19
Extradural spinal angiolipoma. Surg Neurol (1986) 1.19
Public health action in genomics is now needed beyond newborn screening. Public Health Genomics (2012) 1.17
Trends in postneonatal mortality in the United States. 1962 through 1978. JAMA (1984) 1.17
Risk of childhood cancer for infants with birth defects. II. A record-linkage study, Iowa, 1983-1989. Am J Epidemiol (1993) 1.17
Trends and patterns of mortality associated with birth defects and genetic diseases in the United States, 1979-1992: an analysis of multiple-cause mortality data. Genet Epidemiol (1997) 1.17
Contribution of birth defects to infant mortality among racial/ethnic minority groups, United States, 1983. MMWR CDC Surveill Summ (1990) 1.17
Outcomes of revision total hip replacement for infection after grading according to a standard protocol. J Bone Joint Surg Br (2010) 1.16
Developing a strategy to treat established infection in total knee replacement: a review of the latest evidence and clinical practice. J Bone Joint Surg Br (2012) 1.16
Maternal cigarette smoking and oral clefts: a population-based study. Am J Public Health (1987) 1.16
Preconceptional folate intake and malformations of the cardiac outflow tract. Baltimore-Washington Infant Study Group. Epidemiology (1998) 1.15
Sensitivity, specificity, and positive predictive value of multiple malformations in isotretinoin embryopathy surveillance. Teratology (1990) 1.15
Maternal flu, fever, and the risk of neural tube defects: a population-based case-control study. Am J Epidemiol (1994) 1.15
Public health impact of genetic tests at the end of the 20th century. Genet Med (2001) 1.15
The Human Genome Epidemiology Network. Am J Epidemiol (1998) 1.15
Silica stones in humans. Urol Int (1986) 1.14
Vitamin A and cardiac outflow tract defects. Epidemiology (2001) 1.13
Genetic heterogeneity. N Engl J Med (1968) 1.13
The Dyggve-Melchior-Clausen syndrome. Radiology (1975) 1.13
Is the frog lateral plain radiograph a reliable predictor of the alpha angle in femoroacetabular impingement? J Bone Joint Surg Br (2010) 1.12
The changing epidemiology of neural tube defects. United States, 1968-1989. Am J Dis Child (1992) 1.12
Renal tubular insufficiency, cholestatic jaundice, and multiple congenital anomalies--a new multisystem syndrome. Helv Paediatr Acta (1984) 1.11
The Camera-Marugo-Cohen syndrome: report of two new patients. Am J Med Genet (1999) 1.11
Population study of congenital hypothyroidism and associated birth defects, Atlanta, 1979-1992. Am J Med Genet (1997) 1.11
Ependymal brain cyst. Surg Neurol (1982) 1.11
The gene responsible for Clouston hidrotic ectodermal dysplasia maps to the pericentromeric region of chromosome 13q. Hum Mol Genet (1996) 1.09
Analysis of case-parental control studies: method for the study of associations between disease and genetic markers. Am J Epidemiol (1996) 1.09
Biodegradable antibiotic delivery systems. J Bone Joint Surg Br (2011) 1.09
Genetic analysis of plasma sitosterol, apoprotein B, and lipoproteins in a large Amish pedigree with sitosterolemia. Am J Hum Genet (1986) 1.08
Health-related direct-to-consumer genetic tests: a public health assessment and analysis of practices related to Internet-based tests for risk of thrombosis. Public Health Genomics (2008) 1.08
A clinical review of bioabsorbable interference screws and their adverse effects in anterior cruciate ligament reconstruction surgery. Knee (2008) 1.08
Integrative cortical dysfunction and pervasive motion perception deficit in fragile X syndrome. Neurology (2004) 1.08
Association of childhood rhabdomyosarcoma with neurofibromatosis type I and birth defects. Genet Epidemiol (1995) 1.07
Medium chain acyl-CoA dehydrogenase deficiency human genome epidemiology review. Genet Med (2001) 1.06
The Unified Classification System (UCS): improving our understanding of periprosthetic fractures. Bone Joint J (2014) 1.06
Linkage analysis of the nail-patella syndrome. Am J Hum Genet (1995) 1.05
Familial multiple-level intestinal atresias: report of two siblings. J Pediatr (1971) 1.05