Michael Kaback

Q: What Schools Are Affiliated With Michael Kaback

Michael Kaback is affiliated with the following schools: Haverford College, University of California, San Diego, Johns Hopkins University

Michael Kaback's AcademicInfluence.com Rankings

Michael Kaback

Biology

#3992

World Rank

#6023

Historical Rank

#1562

USA Rank

Genetics

#466

World Rank

#537

Historical Rank

#192

USA Rank

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Biology

Why Is Michael Kaback Influential?

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According to Wikipedia, Michael M. Kaback is an American geneticist, physician, and Professor of Pediatrics and Reproductive Medicine, and chief of the Division of Medical Genetics, at the University of California–San Diego.

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Michael Kaback's Published Works

Number of citations in a given year to any of this author's works

Total number of citations to an author for the works they published in a given year. This highlights publication of the most important work(s) by the author

Published Works

The carrier frequency of the BRCA1 185delAG mutation is approximately 1 percent in Ashkenazi Jewish individuals (1995) (664)
Evaluation of mental retardation: recommendations of a Consensus Conference: American College of Medical Genetics. (1997) (429)
The carrier frequency of the BRCA2 6174delT mutation among Ashkenazi Jewish individuals is approximately 1% (1996) (383)
Tay-Sachs Disease— Carrier Screening, Prenatal Diagnosis, and the Molecular Era: An International Perspective, 1970 to 1993 (1993) (224)
Population-based genetic screening for reproductive counseling: the Tay-Sachs disease model (2000) (175)
IDIOPATHIC HYPERCALCEMIA AND SUPRAVALVULAR AORTIC STENOSIS. DOCUMENTATION OF A NEW SYNDROME. (1964) (169)
Tay-Sachs disease--carrier screening, prenatal diagnosis, and the molecular era. An international perspective, 1970 to 1993. The International TSD Data Collection Network. (1993) (154)
Cerebroside sulfatase activator deficiency induced metachromatic leukodystrophy. (1981) (136)
The Axenfeld syndrome and the Rieger syndrome. (1978) (114)
Gaucher disease. Current issues in diagnosis and treatment. NIH Technology Assessment Panel on Gaucher Disease. (1996) (107)
METACHROMATIC LEUKODYSTROPHY WITHOUT ARYLSULFATASE A DEFICIENCY (1979) (106)
Screening and prevention in Tay-Sachs disease: origins, update, and impact. (2001) (96)
Infantile metachromatic leukodystrophy. (1970) (95)
The American Society of Human Genetics statement on cystic fibrosis screening. (1990) (88)
Molecular basis of adult-onset and chronic GM2 gangliosidoses in patients of Ashkenazi Jewish origin: substitution of serine for glycine at position 269 of the alpha-subunit of beta-hexosaminidase. (1989) (85)
A pseudodeficiency allele common in non-Jewish Tay-Sachs carriers: implications for carrier screening. (1992) (79)
Human X-autosome translocations: differential inactivation of the X chromosome in a kindred with an X-9 translocation. (1975) (75)
Frequency of three Hex A mutant alleles among Jewish and non-Jewish carriers identified in a Tay-Sachs screening program. (1990) (74)
Neonatal screening for cystic fibrosis: position paper. (1983) (73)
The Tay-Sachs disease gene in North American Jewish populations: geographic variations and origin. (1983) (72)
Xeroderma Pigmentosum: A Rapid Sensitive Method for Prenatal Diagnosis (1971) (70)
Hexosaminidase A Deficiency (2011) (69)
[117] Thermal fractionation of serum hexosaminidases: Applications to heterozygote detection and diagnosis of Tay-Sach's disease (1972) (64)
Heterozygote Detection in Tay-Sachs Disease: A Prototype Community Screening Program for the Prevention of Recessive Genetic Disorders (1972) (64)
Juvenile GM2 gangliosidosis caused by substitution of histidine for arginine at position 499 or 504 of the alpha-subunit of beta-hexosaminidase. (1990) (59)
Serum pyruvate-kinase (PK) and creatine-phosphokinase (CPK) in progressive muscular dystrophies (1978) (57)
Tay-Sachs screening: social and psychological impact. (1976) (55)
Approaches to the control and prevention of Tay-Sachs disease. (1974) (54)
A second mutation associated with apparent beta-hexosaminidase A pseudodeficiency: identification and frequency estimation. (1993) (48)
Tay-Sachs disease: heterozygote screening and prenatal diagnosis--U.S. experience and world perspective. (1977) (48)
Infantile and adult-onset metachromatic leukodystrophy. Biochemical comparisons and predictive diagnosis. (1971) (47)
THE EFFECT OF 5-BROMODEOXYURIDINE ON HUMAN CHROMOSOMES. (1964) (46)
The Ashkenazi Jewish Fanconi anemia mutation: Incidence among patients and carrier frequency in the at‐risk population (1994) (46)
Gm-gangliosidosis type I: in utero detection and fetal manifestations. (1973) (46)
Faulty association of alpha- and beta-subunits in some forms of beta-hexosaminidase A deficiency. (1984) (45)
Chromosome Abnormalities in infants with prune belly anomaly: association with trisomy 18. (1983) (45)
A new Tay-Sachs disease B1 allele in exon 7 in two compound heterozygotes each with a second novel mutation. (1992) (44)
Some influences on public participation in a genetic screening program (2005) (42)
The APC I1307K allele and breast cancer risk (1998) (41)
Automated assay of hexosaminidases in serum. (1973) (41)
Intrauterine Diagnosis: Comparative Enzymology of Cells Cultivated from Maternal Skin, Fetal Skin, and Amniotic Fluid Cells (1970) (40)
D-amino acids as inducers of L-alanine dehydrogenase in Bacillus subtilis. (1968) (39)
Tay-Sachs disease: one-step assay of beta-N-acetylhexosaminidase in serum with a sulphated chromogenic substrate. (1983) (38)
Regional mapping of ADA and ITP on human chromosome 20: cytogenetic and somatic cell studies in an X/20 translocation. (1980) (36)
A mutation common in non‐jewish Tay–Sachs disease: Frequency and RNA studies (1992) (36)
Prenatal diagnosis of hereditary disorders. (1978) (35)
Tay-Sachs screening: motives for participating and knowledge of genetics and probability. (1976) (34)
Type IV glycogen storage disease: branching enzyme deficiency in skin fibroblasts and possible heterozygote detection. (1971) (34)
Carrier Screening, Prenatal Diagnosis, and the Molecular Era (2017) (34)
Minor chromosomal variants and major chromosomal anomalies in couples with recurrent abortion. (1982) (32)
Tay-Sachs disease heterozygote detection: a quality control study. (1977) (32)
Serum pyruvate-kinase (PK) and creatine-phosphokinase (CPK) in female relatives and patients with X-linked muscular dystrophies (Duchenne and Becker) (1980) (30)
Tay-Sachs: Prototype for Prevention of Genetic Disease (1973) (30)
Metachromatic leukodystrophy (1977) (27)
Cerebroside sulphate (sulphatide) sulphohydrolase: an improved assay method 1 (1972) (26)
Segregation of an insertional chromosome rearrangement in 3 generations. (1978) (26)
Genetic screening in the Persian Jewish community: A pilot study (2010) (25)
Tay-Sachs disease: high gene frequency in a non-Jewish population. (1975) (24)
Estimation of the frequency of hexosaminidase a variant alleles in the American Jewish population. (1982) (23)
The APCI1307K allele and breast cancer risk. (1998) (22)
Further studies on the antenatal detection of sickle cell anemia and other hemoglobinopathies. (1972) (22)
Maternal cell contamination in cultured chorionic villi: Comparison of chromosome Q‐polymorphisms derived from villi, fetal skin, and maternal lymphocytes (1987) (21)
Tay-Sachs disease with hexosaminidase A: characterization of the defective enzyme in two patients. (1987) (21)
Comparative Production of Interferon by Human Fetal, Neonatal, and Maternal Cells (1971) (20)
Marker chromosomes: cytogenetic characterization and implications for prenatal diagnosis. (1985) (20)
Globoid cell (Krabbe's) leukodystrophy: heterozygote detection in cultured skin fibroblasts. (1973) (20)
Further delineation of the supernumerary chromosome in the Cat‐Eye Syndrome (1977) (20)
Ultrastructure manifestations of G M1 and G M2 gangliosidosis in fetal tissues. (1973) (19)
General population screening for cystic fibrosis is premature. (1992) (19)
Tay-Sachs disease: from clinical description to molecular defect. (2001) (18)
Novel mutations and DNA-based screening in non-Jewish carriers of Tay-Sachs disease. (1997) (17)
Sociologic studies in human genetics. I. Compliance factors in a voluntary heterozygote screening program. (1974) (17)
Perspectives in Genetic Screening: Principles and Implications (1994) (15)
Prenatal diagnosis of the Meckel syndrome: use of serial ultrasound and alpha-fetoprotein measurements. (1977) (15)
Future perspectives for Tay-Sachs disease. (2001) (15)
Second-trimester fetoscopy and fetal blood sampling: current limitations and problems. (1974) (14)
PHENOTYPIC VARIATION IN ALPHA-L-IDURONIDASE DEFICIENCY (1975) (14)
Uroporphyrinogen III cosynthetase activity in fibroblasts from patients with congenital erythropoietic porphyria (1970) (13)
Severe subacute GM2 gangliosidosis caused by an apparently silent HEXA mutation (V324V) that results in aberrant splicing and reduced HEXA mRNA (2004) (12)
Crisis counseling: the newborn infant with a chromosomal anomaly. (1978) (12)
Further investigation of the HEXA gene intron 9 donor splice site mutation frequently found in non-Jewish Tay-Sachs disease patients from the British Isles. (1993) (12)
Sandhoff disease heterozygote detection: a component of population screening for Tay-Sachs disease carriers. I. Statistical methods. (1985) (12)
Comparison of fetal and maternal chromosome polymorphisms: Applications in prenatal diagnosis (1982) (12)
Heterozygote Screening — A Social Challenge (1973) (11)
Eight novel mutations in the HEXA gene (2002) (11)
Chorionic villus sampling is associated with normal fetal growth. (1987) (11)
Chromosomal mosaicism in amniotic cell culture. A diagnostic Dilemma. (1975) (10)
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. (1987) (10)
Ganglioside GM2 levels in human melanoma cells: inverse correlation with lysosomal beta-hexosaminidase A activity. (1992) (10)
Health behavior and genetic screening for carriers of Tay-Sachs disease: a prospective study. (1977) (9)
The John F. Kennedy Institute Tay-Sachs Program: Practical and Ethical Issues in an Adult Genetic Screening Program (1973) (9)
Automated thermal fractionation of serum hexosaminidase: effects of alteration in reaction variables and implications for Tay-Sachs disease heterozygote screening. (1977) (9)
Cri-du-chat and trisomy 13 syndromes in an infant with an unbalanced chromosomal translocation. (1975) (9)
Diagnosis and excision of an intrapericardial teratoma in an infant. (1968) (9)
Juvenile dystonic lipidosis. (1969) (8)
Medical genetics: an overview. (1978) (8)
Screening for reproductive counseling: social, ethical, and medicolegal issues in the Tay-Sachs disease experience. (1982) (7)
Genetic Disease Control: A Social Psychological Approach (1981) (7)
Common HEXB polymorphisms reduce serum HexA and HexB enzymatic activities, potentially masking Tay-Sachs disease carrier identification. (2006) (6)
METABOLISM FIRST SESSION May 17, 1973, 9:00 A.M. Continental Ballroom 4 (1973) (6)
Sampling the fetoplacental circulation. III. Combined laparoscopy-fetoscopy in the pregnant macaque for hemoglobin identification. (1978) (6)
Heterozygote Testing and Carrier Screening (2013) (6)
Allelic mutations in the mucopolysaccharidoses. (1976) (5)
Confirmatory Studies in the Prenatal Diagnosis of Sphingolipidoses (1973) (5)
Inherited lipid storage diseases of the central nervous system. (1979) (4)
The "Asilomar Process" and the Human Genome Project (2001) (4)
Stimulation of amniotic fluid cell growth by cartilage growth factor. (1980) (4)
IMMUNOLOGICAL STUDIES OF ISOLATED PARTICULATES OF PARAMECIUM AURELIA (1960) (4)
1138 CARRIER DETECTION AND PRENATAL DIAGNOSIS IN TAY-SACHS DISEASE (TSD): SUMMARY EXPERIENCE OF THE FIRST DECADE (1981) (4)
A Pst+ Polymorphism in the HEXA Gene with an Unusual Geographic Distribution (1993) (4)
530 GENE FREQUENCIES FOR TAY-SACHS (TSD) AND SANDHOFF'S DIS-530 EASE (SD) IN JEWISH AND NONJEWISH POPULATIONS (1978) (4)
Genetic issues in pediatric and obstetric practice (1981) (3)
In Vitro Studies in Sulfatide Lipidosis (1972) (3)
Tay-Sachs disease: from clinical description to prospective control. (1977) (3)
The control of genetic disease by carrier screening and antenatal diagnosis: social, ethical, and medicolegal issues. (1982) (2)
Immunological studies of isolated particulates of Paramecium aurella. I. Antigenic relationships between cytoplasmic organelles and evidence for mitochondrial variations as demonstrated by gel diffusion. (1960) (2)
Tay-Sachs Disease—Carrier Screening, Prenatal Diagnosis and the Molecular Era: An International Perspective, 1970 to 1993 (1994) (2)
Corrigendum: The carrier frequency of the BRCA1 185delAG mutation is approximately 1 percent in Ashkenazi Jewish individuals (1996) (2)
Intrauterine diagnosis of fetal disorders. (1970) (2)
Michael Kaback: people and places (2014) (2)
Prenatal diagnosis of hereditary disease and congenital defects. (1981) (2)
Screening tests: problems with DNA-based insurance testing. (1993) (2)
Maternal serum hexosaminidase A in pregnancy: effects of gestational age and fetal genotype. (1988) (1)
Intervention Against Genetic Disease: Economic and Ethical Considerations (1986) (1)
Tay–Sachs Disease (2001) (1)
Maimon M. Cohen: January 24, 1935, to January 25, 2007 (2007) (1)
Significant of meconium stained fluid in midtrimester amniocentesis. (1982) (1)
Unique considerations for genetic counseling in community-based carrier screening programs. (1977) (1)
Community-based genetic education, communication channels, and knowledge of Tay-Sachs disease. (1977) (1)
Section 1: Genetic amniocentesis (1981) (1)
Table 2. [Molecular Genetic Testing Used in Carrier Detection for Hexosaminidase A Deficiency]. (2011) (1)
Population screening for genetic disorders in California. (1978) (1)
The Enzymatic Defect in Congenital Erythropoietic Porphyria: Demonstration in Heterozygotes and in Non-erythropoietic Tissue of Homozygotes (1970) (1)
701 CHROMOSOMAL VARIANTS IN HABITUAL ABORTION (1981) (1)
ADDENDUM: Reviewer Acknowledgment 2014 (2015) (0)
Maimon M. Cohen, PhD (2007) (0)
COMPARISON OF SERUM PYRUVATE-KHIASE (PK) AND CREATINE-PHOSPHOKIHASE (CPK) IN CARRIER DETECTION OF X-LINKED MUSCULAR DYSTROPHIES (1977) (0)
Diagnosis of skeletal dysplasias in second trimester fetuses. (1975) (0)
2006 ASHG Leadership Award. Introductory speech for David L. Rimoin. (2007) (0)
Comparative Production ofInterferon byHuman Fetal, Neonatal, andMaternal Cells (1971) (0)
HETEROZYGOTE SCREENING IN TAY-SACHS DISEASE (TSD): A DUALITY CONTROL STUDY (1977) (0)
Infantile metachromatic leukodystrophy: deficiency of arylsulfatase A in skin fibroblasts: heterozygote detection. (1971) (0)
Letter: Phenotypic variation in alpha-L-iduronidase deficiency. (1975) (0)
CARRIER FREQUENCIES FOR SANDHOFF DISEASE (SHD) AND TAY-SACHS (TSD) IN AMERICAN JEWISH (J) AND NON-JEWISH (NJ) POPULATIONS (1984) (0)
Intrauterine fetal visualization : a multidisciplinary approach (1976) (0)
Symposium on Medical Genetics. Forward. (1978) (0)
AutomatedAssay of Hexosaminidasesin Serum (1973) (0)
Genetic Evaluation of the Human Fetus in Utero: Present and Future Perspectives (1974) (0)
In Memoriam (2012) (0)
Table 1. [Summary of Molecular Genetic Testing Used in Hexosaminidase A Deficiency]. (2011) (0)
Gm -gangliosidosis type I" and fetal mamfestations In utero detection (1973) (0)
Non-Jewish Population (2006) (0)
The Turner phenotype associated with unbalanced X/autosome translocation. (1975) (0)
Symposium on intrauterine diagnosis. Discussion of symposium papers. (1971) (0)
TAY-SACHS DISEASE (TSD): PRENATAL DIAGNOSIS AND HETEROZYGOTE SCREENING (1977) (0)
march of dimes/colonel harland sanders award (2000) (0)
CHROMOSOME POLYMORPHISMS IN THE IDENTIFICATION OF THE ORIGIN OF SUPERNUMERARY MARKER CHROMOSOMES (1977) (0)
Table 3. [Selected HEXA Allelic Variants]. (2011) (0)
American Pediatric Society Presidential Address 1999: The Joy of Academic Pediatrics (2000) (0)
Reviewer Acknowledgment (2005) (0)
Reviewer Acknowledgment (2008) (0)
Tay-Sachs disease, screening and prevention : based on the First International Conference on Tay-Sachs Disease, Screening and Prevention, Palm Springs, California (1977) (0)
INCREASED SERUM HEXOSAMINIDASE A DURING PREGNANCY: IMPLICATIONS FOR TAY-SACHS CARRIER DETECTION BY SULFATED FLUOROGENIC SUBSTRATES (1987) (0)
Editorial: Heterozygote screening--a social challenge. (1973) (0)
Joint Committee on Professional Practice and Clinical Guidelines (1998) (0)
835 CYSTIC FIBROSIS (CF): KNOWLEDGE AND ATTITUDES TOWARD PRENATAL DX (PND) AMONG PARENTS (PAR); AUNTS & UNCLES (A&U);HEALTH PROFESSIONALS; AND CLERGY (CL) (1985) (0)

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What Schools Are Affiliated With Michael Kaback?

Michael Kaback is affiliated with the following schools: