Charles Thomas Caskey

Charles Thomas Caskey's AcademicInfluence.com Rankings

Biology

#5357

World Rank

#7815

Historical Rank

Molecular Biology

#470

World Rank

#480

Historical Rank

Genetics

#485

World Rank

#557

Historical Rank

Biochemistry

#618

World Rank

#712

Historical Rank

biology Degrees

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Biology

Charles Thomas Caskey's Degrees

PhD Biochemistry University of California, Berkeley
Bachelors Chemistry University of California, Berkeley

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Charles Thomas Caskey'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

Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome (1991) (3264)
Variation of the CGG repeat at the fragile X site results in genetic instability: Resolution of the Sherman paradox (1991) (2046)
Genetic variation at five trimeric and tetrameric tandem repeat loci in four human population groups. (1992) (1479)
Absence of expression of the FMR-1 gene in fragile X syndrome (1991) (1398)
Deletion screening of the Duchenne muscular dystrophy locus via multiplex DNA amplification. (1988) (1273)
DNA typing and genetic mapping with trimeric and tetrameric tandem repeats. (1991) (1202)
Characterization of the human cysteinyl leukotriene CysLT1 receptor (1999) (990)
Leptin receptor missense mutation in the fatty Zucker rat (1996) (871)
Isolation of a Miller–Dicker lissencephaly gene containing G protein β-subunit-like repeats (1993) (716)
DNA methylation represses FMR-1 transcription in fragile X syndrome. (1992) (694)
Identification of the gene responsible for Best macular dystrophy (1998) (676)
A new adenoviral vector: Replacement of all viral coding sequences with 28 kb of DNA independently expressing both full-length dystrophin and beta-galactosidase. (1996) (621)
Alu polymerase chain reaction: a method for rapid isolation of human-specific sequences from complex DNA sources. (1989) (559)
Isolation of a Miller-Dieker lissencephaly gene containing G protein beta-subunit-like repeats. (1993) (546)
Identification of a (CUG)n triplet repeat RNA-binding protein and its expression in myotonic dystrophy. (1996) (474)
Evaluation of 13 short tandem repeat loci for use in personal identification applications. (1994) (459)
Construction of plasmids that express E. coli beta-galactosidase in mammalian cells. (1989) (404)
An adenoviral vector deleted for all viral coding sequences results in enhanced safety and extended expression of a leptin transgene. (1998) (388)
Identification of receptors for neuromedin U and its role in feeding (2000) (379)
Triplet repeat mutations in human disease. (1992) (378)
Automated DNA sequencing of the human HPRT locus. (1990) (351)
Multiplex DNA deletion detection and exon sequencing of the hypoxanthine phosphoribosyltransferase gene in Lesch-Nyhan families. (1990) (315)
Urate oxidase: primary structure and evolutionary implications. (1989) (307)
An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge (2014) (306)
Somatic mosaicism, germline expansions, germline reversions and intergenerational reductions in myotonic dystrophy males: small pool PCR analyses. (1995) (299)
Structure, expression, and mutation of the hypoxanthine phosphoribosyltransferase gene. (1984) (297)
Hyperuricemia and urate nephropathy in urate oxidase-deficient mice. (1994) (276)
Whole-genome sequencing identifies common-to-rare variants associated with human blood metabolites (2017) (275)
Identification of mutations leading to the Lesch-Nyhan syndrome by automated direct DNA sequencing of in vitro amplified cDNA. (1989) (275)
Hypoxanthine-guanine phosphoribosyltransferase genes of mouse and Chinese hamster: construction and sequence analysis of cDNA recombinants. (1982) (273)
Rescue, propagation, and partial purification of a helper virus-dependent adenovirus vector. (1995) (272)
Generation of cDNA probes directed by amino acid sequence: cloning of urate oxidase. (1988) (269)
Expression of peptide chain release factor 2 requires high-efficiency frameshift (1986) (267)
DNA diagnostics--molecular techniques and automation. (1988) (258)
Truncating mutations of MAGEL2cause Prader-Willi phenotypes and autism (2013) (248)
The molecular basis of the sparse fur mouse mutation. (1987) (242)
Identification of urotensin II as the endogenous ligand for the orphan G-protein-coupled receptor GPR14. (1999) (238)
8-Azaguanine resistance in mammalian cells. I. Hypoxanthine-guanine phosphoribosyltransferase. (1972) (238)
Carrier detection and prenatal diagnosis in Duchenne and Becker muscular dystrophy families, using dinucleotide repeat polymorphisms. (1991) (225)
Recovery of induced mutations for X chromosome-linked muscular dystrophy in mice. (1989) (224)
HPRT: gene structure, expression, and mutation. (1985) (221)
Identification of repeat sequence heterogeneity at the polymorphic short tandem repeat locus HUMTH01[AATG]n and reassignment of alleles in population analysis by using a locus-specific allelic ladder. (1993) (215)
Bacterial peptide chain release factors: conserved primary structure and possible frameshift regulation of release factor 2. (1985) (214)
Somatic heterogeneity of the CTG repeat in myotonic dystrophy is age and size dependent. (1995) (213)
33 – MULTIPLEX PCR FOR THE DIAGNOSIS OF DUCHENNE MUSCULAR DYSTROPHY (1990) (212)
Histochemical staining of clonal mammalian cell lines expressingE. coliβ galactosidase indicates heterogeneous expression of the bacterial gene (1987) (212)
Optimization of the helper-dependent adenovirus system for production and potency in vivo. (2000) (211)
Isolation and characterization of LRP6, a novel member of the low density lipoprotein receptor gene family. (1998) (211)
In vivo muscle gene transfer of full-length dystrophin with an adenoviral vector that lacks all viral genes. (1996) (209)
Novel proteins with binding specificity for DNA CTG repeats and RNA CUG repeats: implications for myotonic dystrophy. (1996) (208)
Relationship between parental trinucleotide GCT repeat length and severity of myotonic dystrophy in offspring. (1993) (203)
Fine structure of the human hypoxanthine phosphoribosyltransferase gene (1986) (188)
Molecular and clinical correlations of deletions leading to Duchenne and Becker muscular dystrophies (1989) (185)
Profound Perturbation of the Metabolome in Obesity Is Associated with Health Risk (2019) (183)
Expression of the murine Duchenne muscular dystrophy gene in muscle and brain. (1988) (183)
Molecular evidence for new mutation at the hprt locus in Lesch-Nyhan patients (1984) (183)
Detection of single DNA base differences by competitive oligonucleotide priming. (1989) (176)
Mutation detection by solid phase primer extension (1996) (173)
Altered phosphorylation and intracellular distribution of a (CUG)n triplet repeat RNA-binding protein in patients with myotonic dystrophy and in myotonin protein kinase knockout mice. (1997) (169)
THE ENZYMOLOGY OF FEEDBACK INHIBITION OF GLUTAMINE PHOSPHORIBOSYLPYROPHOSPHATE AMIDOTRANSFERASE BY PURINE RIBONUCLEOTIDES. (1964) (162)
Human and murine dystrophin mRNA transcripts are differentially expressed during skeletal muscle, heart, and brain development. (1992) (152)
Evaluation of the Best disease gene in patients with age-related macular degeneration and other maculopathies (1999) (146)
Plasma metabolomic profiles enhance precision medicine for volunteers of normal health (2015) (142)
Deletion and amplification of the HGPRT locus in Chinese hamster cells (1983) (138)
Hypermutable myotonic dystrophy CTG repeats in transgenic mice (1997) (137)
Identification and localization of mutations at the Lesch-Nyhan locus by ribonuclease A cleavage. (1987) (126)
Disease diagnosis by recombinant DNA methods. (1987) (125)
Anticipation in myotonic dystrophy (1992) (122)
Sequential Translation of Trinucleotide Codons for the Initiation and Termination of Protein Synthesis (1968) (121)
Non-viral approaches to gene therapy. (1995) (120)
Rapid and efficient resolution of parentage by amplification of short tandem repeats. (1994) (119)
Mutations affecting the structure of hypoxanthine: guanine phosphoribosyltransferase in cultured Chinese hamster cells. (1973) (117)
Scanning detection of mutations in human ornithine transcarbamoylase by chemical mismatch cleavage. (1989) (115)
Expanded-capacity adenoviral vectors--the helper-dependent vectors. (1999) (113)
The gene for a human microfibril-associated glycoprotein is commonly deleted in Smith-Magenis syndrome patients. (1995) (112)
A three-allele restriction-fragment-length polymorphism at the hypoxanthine phosphoribosyltransferase locus in man. (1983) (109)
Cloned cDNA sequences of the hypoxanthine/guanine phosphoribosyltransferase gene from a mouse neuroblastoma cell line found to have amplified genomic sequences. (1982) (104)
Uncoupling protein-3: a muscle-specific gene upregulated by leptin in ob/ob mice. (1998) (102)
PCR test for cystic fibrosis deletion (1990) (102)
Profiling of Short-Tandem-Repeat Disease Alleles in 12,632 Human Whole Genomes (2017) (101)
Methylation of the mouse hprt gene differs on the active and inactive X chromosomes (1986) (101)
Hydrolysis of fMet-tRNA by peptidyl transferase. (1971) (101)
Identification of Misclassified ClinVar Variants via Disease Population Prevalence. (2018) (100)
Organization of the HPRT gene and related sequences in the human genome (1984) (99)
A molecular survey of hypoxanthine-guanine phosphoribosyltransferase deficiency in man. (1986) (99)
Characterization of reticulocyte release factor. (1977) (99)
RNA codons and protein synthesis. 15. Dissimilar responses of mammalian and bacterial transfer RNA fractions to messenger RNA codons. (1968) (93)
The Chinese hamster HPRT gene: restriction map, sequence analysis, and multiplex PCR deletion screen. (1991) (93)
Efficient adenoviral-mediated ornithine transcarbamylase expression in deficient mouse and human hepatocytes. (1993) (92)
The American Society of Human Genetics statement on cystic fibrosis screening. (1990) (88)
Translational frameshifting: Where will it stop? (1987) (86)
CAG repeat size and clinical presentation in Huntington's disease (1994) (86)
Expression of human and Chinese hamster hypoxanthine-guanine phosphoribosyltransferase cDNA recombinants in cultured Lesch-Nyhan and Chinese hamster fibroblasts. (1983) (83)
Identification and cloning of an orphan G protein-coupled receptor of the glycoprotein hormone receptor subfamily. (1998) (82)
Expression of recombinant dystrophin and its localization to the cell membrane (1991) (81)
Precision medicine screening using whole-genome sequencing and advanced imaging to identify disease risk in adults (2017) (78)
Gene therapy of the immune system. (1993) (78)
Trinucleotide repeat disorders in humans: discussions of mechanisms and medical issues (1996) (78)
Absence of messenger RNA and gene DNA for β-globin chains in hereditary persistence of fetal hemoglobin (1976) (75)
Expression of human adenosine deaminase in murine haematopoietic progenitor cells following retroviral transfer (1986) (74)
It's the genes! EST access to human genome content (1996) (73)
Aberrant GlyRS-HDAC6 interaction linked to axonal transport deficits in Charcot-Marie-Tooth neuropathy (2018) (73)
Mammalian peptide chain termination. II. Codon specificity and GTPase activity of release factor. (1971) (71)
An intact cysteine-rich domain is required for dystrophin function. (1992) (71)
Expression and Localization of Dystrophin in Human Cardiac Purkinje Fibers (1992) (69)
Diagnosis of Duchenne and Becker muscular dystrophies by polymerase chain reaction. A multicenter study. (1992) (68)
Spontaneous reversion of novel Lesch-Nyhan mutation byHPRT gene rearrangement (1988) (68)
Mutant chinese hamster cells with a thermosensitive hypoxanthine-guanine phosphoribosyltransferase (1975) (68)
Full-length myotonin protein kinase (72 kDa) displays serine kinase activity. (1995) (68)
Improved molecular diagnostics for ornithine transcarbamylase deficiency. (1991) (65)
Deficiencies of Glucosamine-6-Sulfate or Galactosamine-6-Sulfate Sulfatases Are Responsible for Different Mucopolysaccharidoses (1978) (64)
Closure strategies for random DNA sequencing (1991) (64)
Identification of two hERR2-related novel nuclear receptors utilizing bioinformatics and inverse PCR. (1999) (63)
The drug development crisis: efficiency and safety. (2007) (62)
Correction of chromosomal mutation and random integration in embryonic stem cells with helper-dependent adenoviral vectors. (2005) (62)
The requirement for ribosomal proteins L7 and L12 in peptide-chain termination. (1974) (62)
Recent advances in peptide chain termination (1990) (61)
Tissue-specific Rescue Suggests That Placental Adenosine Deaminase Is Important for Fetal Development in Mice (*) (1995) (60)
Molecular scanning methods of mutation detection. (1990) (59)
Prenatal diagnosis of Duchenne's muscular dystrophy. (1977) (59)
Transduction of human bone marrow by adenoviral vector. (1994) (59)
Precision medicine integrating whole-genome sequencing, comprehensive metabolomics, and advanced imaging (2020) (58)
Molecular analysis of a female Lesch-Nyhan patient. (1989) (57)
Failure in detecting mRNA transcripts from the mutated allele in myotonic dystrophy muscle. (1993) (57)
Retroviral-mediated gene transfer of human ornithine transcarbamylase into primary hepatocytes of spf and spf-ash mice. (1992) (57)
Peptide chain termination: effect of protein S on ribosomal binding of release factors. (1970) (56)
Alu-primed polymerase chain reaction for regional assignment of 110 yeast artificial chromosome clones from the human X chromosome: identification of clones associated with a disease locus. (1991) (56)
The HPRT locus (1979) (53)
Ectopic correction of ornithine transcarbamylase deficiency in sparse fur mice. (1990) (52)
Peptide chain termination with mammalian release factor. (1970) (51)
Trinucleotide repeats and genome variation. (1993) (51)
Expression of human HPRT in the central nervous system of transgenic mice (1985) (50)
Derivation of TK- clones from revertant TK+ mammalian cells. (1973) (50)
9p monosomy in a patient with Gilles de la Tourette's syndrome (1991) (47)
PRENATAL DIAGNOSIS OF HAEMOPHILIA A BY FACTOR VIII GENE ANALYSIS (1985) (47)
Direct cloning of human transcripts with HnRNA from hybrid cell lines. (1990) (46)
Sporadic occurrence of Duchenne Muscular Dystrophy: evidence for new mutation (1980) (46)
Myotonic dystrophy: discussion of molecular mechanism. (1996) (44)
Characterization of recombinant helper retroviruses from Moloney-based vectors in ecotropic and amphotropic packaging cell lines. (1991) (44)
A human homologue of the Drosophila polarity gene frizzled has been identified and mapped to 17q21.1. (1995) (44)
The Lesch-Nyhan syndrome: clinical, molecular and genetic aspects. (1988) (43)
Personalized genomic disease risk of volunteers (2013) (42)
6 – cDNA CLONING USING DEGENERATE PRIMERS (1990) (41)
Cloning and expression of a mammalian peptide chain release factor with sequence similarity to tryptophanyl-tRNA synthetases. (1990) (41)
Antisense RNA production in transgenic mice (1990) (41)
Isolation of cDNA clones for the catalytic gamma subunit of mouse muscle phosphorylase kinase: expression of mRNA in normal and mutant Phk mice. (1987) (41)
Progress toward human gene therapy. (1993) (41)
Forward and reverse mutations affecting the kinetics and apparent molecular weight of mammalian HGPRT (1977) (40)
45,X/46,X,+r(X) can have a distinct phenotype different from Ullrich-Turner syndrome. (1992) (40)
Gene targeting in mouse embryonic stem cells with an adenoviral vector (1995) (39)
Mammalian release factor; in vitro assay and purification. (1974) (39)
The human as an experimental system in molecular genetics. (1988) (39)
Carrier diagnosis of Duchenne muscular dystrophy using restriction fragment length polymorphisms (1986) (39)
A transposon-like element in the deletion-prone region of the dystrophin gene. (1992) (39)
Linkage of the gene for an X-linked mental retardation disorder to a hypervariable (AGAT)n repeat motif within the human hypoxanthine phosphoribosyltransferase (HPRT) locus (Xq26). (1991) (38)
In vitro translation of hypoxanthine/guanine phosphoribosyltransferase mRNA: characterization of a mouse neuroblastoma cell line that has elevated levels of hypoxanthine/guanine phosphoribosyltransferase protein. (1981) (38)
Failure of fetal creatine phosphokinase as a diagnostic indicator of Duchenne muscular dystrophy. (1979) (38)
Construction of plasmids that express Escherichia coli β-galactosidase in mammalian cells (1989) (37)
Cloning of the Escherichia coli release factor 2 gene (1984) (37)
Exclusion of Usher syndrome gene from much of chromosome 4. (1989) (37)
Predispositional genome sequencing in healthy adults: design, participant characteristics, and early outcomes of the PeopleSeq Consortium (2019) (37)
The myotonic dystrophy gene. (1993) (37)
Influence of guanine nucleotides and elongation factors on interaction of release factors with the ribosome. (1973) (36)
The function, structure and regulation of E. coli peptide chain release factors. (1987) (36)
Inhibition of peptide chain termination by antibodies specific for ribosomal proteins. (1975) (36)
Restoration of dystrophin‐associated proteins in skeletal muscle of mdx mice transgenic for dystrophin gene (1993) (35)
Allelic ladder characterization of the short tandem repeat polymorphism located in the 5' flanking region to the human coagulation factor XIII A subunit gene. (1994) (35)
Unstable triplet repeat diseases. (1995) (35)
Release Factor Translation of RNA Phage Terminator Codons (1970) (34)
Mdx transgenic mouse: restoration of recombinant dystrophin to the dystrophic muscle. (1993) (33)
Long-term expression of retroviral-transduced adenosine deaminase in human primitive hematopoietic progenitors. (1993) (33)
Mapping of hKCa3 to chromosome 1q21 and investigation of linkage of CAG repeat polymorphism to schizophrenia (1999) (31)
Triplet repeat disorders: discussion of molecular mechanisms (1999) (31)
Characterization and genomic mapping of genes and pseudogenes of a new human protein tyrosine phosphatase. (1996) (30)
Patient selection may affect gene therapy success. Dominant negative effects observed for ornithine transcarbamylase in mouse and human hepatocytes. (1996) (30)
Multiplex DNA amplification and solid-phase direct sequencing for mutation analysis at the hprt locus in Chinese hamster cells. (1993) (30)
Unstable triplet repeat sequences: A source of cancer mutations? (1995) (30)
Prenatal diagnosis of Duchenne muscular dystrophy: prospective linkage analysis and retrospective dystrophin cDNA analysis. (1989) (30)
Using genetic diagnosis to determine individual therapeutic utility. (2010) (30)
Population‐specific screening by mutation analysis for diseases frequent in Ashkenazi Jews (1996) (30)
PCR analysis of dystrophin gene mutation and expression (1991) (29)
Selection of temperature-sensitive CHL asparagyl-tRNA synthetase mutants using the toxic lysine analog, S-2-aminoethyl-L-cysteine (1976) (29)
Mice deficient in the urea‐cycle enzyme, carbamoyl phosphate synthetase i, die during the early neonatal period from hyperammonemia (1999) (29)
Presymptomatic diagnosis: a first step toward genetic health care. (1993) (29)
Molecular studies of human genetic disease (1991) (28)
Induction of the Cyp1a-1 dioxin-responsive enhancer in transgenic mice. (1991) (27)
Recombinant DNA applications to human disease (1983) (27)
Recombinant truncated dystrophin minigenes: construction, expression, and adenoviral delivery. (1995) (27)
Greig syndrome associated with an interstitial deletion of 7p: confirmation of the localization of Greig syndrome to 7p13 (1991) (26)
DMD‐specific FISH probes are diagnostically useful in the detection of female carriers of DMD gene deletions (1997) (26)
Four STR polymorphisms map to a 500 kb region between DXS15 and DXS134. (1993) (26)
DNA analysis in forensics, disease and animal/plant identification. (1994) (25)
An economic evaluation of a genetic screening program for Tay-Sachs disease. (1978) (24)
The genetic structure of mouse ornithine transcarbamylase. (1988) (24)
Ivemark syndrome in siblings (1982) (24)
Delivering therapeutic genes--matching approach and application. (1993) (24)
Troponin T is capable of binding dystrophin via a leucine zipper (1994) (23)
Screening for steroid sulfatase (STS) gene deletions by multiplex DNA amplification (1990) (23)
The 5' flanking region of the ornithine transcarbamylase gene contains DNA sequences regulating tissue-specific expression. (1986) (23)
[38] Release factors: in vitro assay and purification (1971) (23)
An unsupervised learning approach to identify novel signatures of health and disease from multimodal data (2020) (23)
Biochemical characterization of azetidine carboxylic acid-resistant Chinese hamster cells (1976) (23)
Peptidyltransferase inhibition by trichodermin. (1973) (23)
Gene transfer into humans: a first step. (1990) (22)
Amplification versus mutation as a mechanism for reversion of anHGPRT mutation (1984) (22)
Human hypoxanthine-guanine phosphoribosyltransferase. Detection of a mutant allele by restriction endonuclease analysis. (1983) (22)
Myotonic dystrophy: an unstable CTG repeat in a protein kinase gene. (1995) (21)
Human Elongation Factor EF-1β: Cloning and Characterization of the EF1β5a Gene and Assignment of EF-1β Isoforms to Chromosomes 2, 5, 15, and X (1993) (21)
The sulfatase gene family: cross-species PCR cloning using the MOPAC technique. (1992) (21)
Newborn screening for sickling hemoglobinopathies. Houston, 1976 to 1980. (1984) (21)
Rapid and precise mapping of the Escherichia coli release factor genes by two physical approaches (1988) (21)
Detection of Fabry's disease heterozygotes by hair root analysis (1978) (21)
Mutations affecting the antigenic properties of hypoxanthine-guanine phosphoribosyl transferase in cultured Chinese hamster cells (1977) (21)
Developments Leading to Human Gene Therapy (1986) (20)
Premature chain termination mutation causing Duchenne muscular dystrophy (1992) (20)
Detection of Gene Deletions Using Multiplex Polymerase Chain Reactions (1991) (19)
Linkage disequilibria among (CA)n polymorphisms in the human dystrophin gene and their implications in carrier detection and prenatal diagnosis in Duchenne and Becker muscular dystrophies. (1994) (19)
Diagnosis of New Mutation Diseases Using the Polymerase Chain Reaction (1989) (19)
Deletion screening at the hypoxanthine-guanine phosphoribosyltransferase locus in Chinese hamster cells using the polymerase chain reaction. (1989) (19)
Differential methylation of the ornithine carbamoyl transferase gene on active and inactive mouse X chromosomes (1987) (19)
Adult genetic risk screening. (2014) (19)
Molecular medicine. A spin-off from the helix. (1993) (19)
Release factor binding to ribosome requires an intact 16 S rRNA 3' terminus. (1977) (18)
Antisense RNA inhibition of HPRT synthesis (1990) (17)
N-Acetylglucosamine-6-Sulfate Sulfatase in Man: Deficiency of the Enzyme in a New Mucopolysaccharidosis (1978) (17)
A genetic linkage map of five marker loci in and around the Duchenne muscular dystrophy locus. (1989) (17)
A rapid scanning strip for tri- and dinucleotide short tandem repeats. (1994) (16)
Nuclease sensitivity of the mouse HPRT gene promoter region: differential sensitivity on the active and inactive X chromosomes (1987) (16)
Ribosomal proteins cross-linked to peptide chain termination release factor 2. (1982) (16)
Lesch—Nyhan syndrome: Carrier and prenatal diagnosis (1995) (15)
Molecular studies of hypoxanthine-guanine phosphoribosyltransferase mutations in six Australian families. (1987) (14)
3. Polypeptide Chain Termination (1974) (14)
Emetine-resistant Chinese hamster cells. The identification of an electrophoretically altered protein of the 40 S ribosomal subunit. (1979) (13)
Experience of an academic reference laboratory using automation for analysis of cystic fibrosis mutations. (1994) (13)
Ornithine transcarbamylase deficiency: a model for gene therapy. (1994) (12)
Mutants of purine metabolism in cultured mouse and hamster cells. (1976) (12)
The molecular characterisation of HPRT CHERMSIDE and HPRT COORPAROO: two Lesch-Nyhan patients with reduced amounts of mRNA. (1991) (11)
Point mutations and polymorphisms in the human dystrophin gene identified in genomic DNA sequences amplified by multiplex PCR (1992) (11)
First trimester diagnosis of lesch‐nyhan syndrome: Applications to other disorders of purine metabolism (1985) (11)
Gene therapy: A new approach for the treatment of genetic disorders (1990) (11)
The application of recombinant DNA technology for genetic probing in epidemiology. (1989) (11)
Molecular detection of new mutations, resolution of ambiguous results and complex genetic counseling issues in Huntington disease. (1996) (10)
Applications of recombinant DNA to pathologic diagnosis. (1985) (10)
Automated DNA sequencing methods for detection and analysis of mutations: applications to the Lesch-Nyhan syndrome. (1989) (10)
Gene transfer therapy for heritable disease: cell and expression targeting. (1993) (10)
FineStructure oftheHumanHypoxanthine Phosphoribosyltransferase Gene (1986) (10)
Deletion detection in the dystrophin gene by multiplex gap ligase chain reaction and immunochromatographic strip technology (1995) (10)
PCR amplification and analysis of yeast artificial chromosomes. (1992) (9)
Mendelian, non-Mendelian, multigenic inheritance, and epigenetics (2020) (9)
The "eRF" clone corresponds to tryptophanyl-tRNA synthetase, not mammalian release factor. (1994) (9)
Direct DNA Sequencing of Complementary DNA Amplified by the Polymerase Chain Reaction (1991) (9)
HPRT and the Lesch—Nyhan syndrome (1985) (9)
Structural analysis of mutant and revertant forms of Chinese hamster hypoxanthine-guanine phosphoribosyltransferase. (1981) (9)
Molecular detection and correction of ornithine transcarbamylase deficiency. (1990) (8)
Müllerian Aplasia with Hypoplastic Thumbs: Two Case Reports (1979) (8)
In utero paternity testing following alleged sexual assault. A comparison of DNA-based methods. (1995) (8)
Forensic Use of Short Tandem Repeats via PCR (1992) (8)
CHAPTER 4 – Inhibitors of Protein Synthesis (1973) (8)
Alu PCR: The Use of Repeat Sequence Primers for Amplification of Human DNA from Complex Sources (1989) (7)
Antisense RNA inhibition of endogenous genes. (1987) (7)
ASHG human genome committee report. The human genome project: implications for human genetics. (1991) (7)
A new family with fra(10)(q25): spontaneous expression and 100% expression with 100 microM BrdU. (1985) (7)
Annual Review of Medicine: Selected Topics in the Clinical Sciences (1979) (7)
Amniotic-fluid-cell-culture failure and syringe toxicity revisited. (1982) (7)
Detection of new mutation disease in man and mouse. (1989) (6)
Report of the MDA Gene Therapy Conference, Tucson, Arizona, September 27–28, 1991 (1992) (6)
Human elongation factor EF-1 beta: cloning and characterization of the EF1 beta 5a gene and assignment of EF-1 beta isoforms to chromosomes 2,5,15 and X. (1993) (6)
Specificity of lincomycin action on peptidyl transferase activity. (1979) (6)
The Molecular Basis of Genetically Acquired Resistance to Purine Analogues in Cultured Mammalian Cells (1984) (6)
Identification of misclassified ClinVar variants using disease population prevalence (2016) (6)
Molecular genetics of myotonic dystrophy. (1993) (6)
Mucolipidosis II: unusual presentation with a congenital angulated fracture (1982) (6)
Human genetic disease and the medical need for somatic gene therapy (1993) (6)
Physical Mapping of Xq24–25 around Loci Closely Linked to the X-Linked Lymphoproliferative Syndrome Locus: An Overlapping YAC Map and Linkage between DXS12, DXS42, and DXS37 (1993) (6)
Induced reversion of a spontaneous point mutation within the Chinese hamster HPRT gene to the wild-type sequence. (1990) (6)
Generation of cDNA Probes by Reverse Translation of Amino Acid Sequence (1989) (5)
9 – Peptide Chain Termination (1977) (5)
Comments on DNA-based forensic analysis. (1991) (5)
Forensic DNA technology (1992) (5)
Polymerase Chain Reaction (PCR) (2009) (5)
Clinical Applications of the Polymerase Chain Reaction (1994) (5)
The hypoxanthine phosphoribosyltransferase gene: a model for the study of mutation in mammalian cells. (1984) (4)
Report of the X chromosome workshop. (1990) (4)
Precision Medicine Advancements Using Whole Genome Sequencing, Noninvasive Whole Body Imaging, and Functional Diagnostics (2018) (4)
DMD carrier detection and prenatal diagnosis via recombinant DNA methods. (1988) (4)
Solid-phase automated sequencing of PCR-amplified genomic DNA. (1996) (4)
Gene patents--a time to balance access and incentives. (1996) (4)
Genetic marker technology. (1991) (4)
Molecular genetics and medicine. A call for papers. (1992) (4)
Presymptomatic Testing for Genetic Diseases of Later Life (1995) (4)
Immunologic evidence for structural homology between the release factors of Escherichia coli. (1977) (4)
The mechanism of peptide chain termination (1974) (4)
Automated DNA Typing : Method of the Future ? (4)
Helper dependent adenoviral vectors : improved safety and expression (1998) (3)
Profound perturbation of the human metabolome by obesity (2018) (3)
Safe gene vectors made simpler (1997) (3)
Chromosomal rearrangement segregating with adrenoleukodystrophy: a molecular analysis. (1993) (3)
American Society of Human Genetics presidential address, October 18, 1990. (1991) (3)
Trinucleotide repeat polymorphism at D6S366. (1993) (3)
Gene therapy prospects for Duchenne muscular dystrophy. (1994) (3)
Whole-genome sequencing identifies common-to-rare variants associated with human blood metabolites (2017) (3)
Characterization and use of cloned sequences of the hypoxanthine-guanine phosphoribosyltransferase gene. (1984) (3)
A milestone in human genetics. (1986) (3)
A comment on the benefits and costs of genetic screening. (1978) (3)
Amino acid analog-resistant mammalian cells. (1978) (3)
Duchenne muscular dystrophy - DNA diagnosis in practice (1988) (3)
The human genome project. Purpose and potential. (1992) (3)
Temperature-sensitive hypoxanthine-guanine phosphoribosyltransferase in mutant Chinese hamster cells. (1975) (2)
Obituary: Marshall Nirenberg (1927–2010) (2010) (2)
Aberrant GlyRS-HDAC6 interaction linked to axonal transport deficits in Charcot-Marie-Tooth neuropathy (2018) (2)
A recombinant DNA diagnostic program in practice. (1986) (2)
Triplet Repeat Mutations in Human Disease (1992) (2)
In utero paternity testing following alleged sexual assault. A comparison of DNA-based methods (1995) (2)
DNA Diagnosis in Monogenic Diseases (1994) (2)
[7] Direct complementary DNA cloning using polymerase chain reaction (1992) (2)
Merck, SmithKline and patents (1996) (2)
Influence ofGuanine Nucleotides andElongation Factors onInteraction ofRelease Factors withtheRibosome (1973) (2)
Isolation and Analysis of Chinese Hamster Cells Carrying Forward and Reverse Mutations in the Hypoxanthine-Guanine Phosphoribosyltransferase Locus (1982) (2)
Gene therapy in man and mice: adenosine deaminase deficiency, ornithine transcarbamylase deficiency, and Duchenne muscular dystrophy. (1991) (2)
The Human Genome Project (1993) (2)
44 – Release Factors: in Vitro Assay and Purification (1981) (2)
Cloning the full-length cDNA for the porcine urate oxidase by the MOPAC generated probe. (1989) (2)
Molecular detection and correction of 0rnithine transcarbamylase (1990) (1)
Southern analysis of the Lesch-Nyhan locus in man. (1984) (1)
Function of 14-3-3 proteins (1996) (1)
Helper-dependent adenoviral vectors as gene delivery vehicles (2001) (1)
Advances toward gene therapy (1989) (1)
A genome approach to the human X chromosome. (1991) (1)
78 THE ISOLATION AND CHARACTERIZATION OF A PORCINE cDNA FOR URATE OXIDASE AND PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE (1988) (1)
Direct complementary DNA cloning using polymerase chain reaction. (1992) (1)
Sizing up the enemy. A call for papers on cancer. (1994) (1)
Gene Transfer of a Murine Dystrophin Minigene Construct (1992) (1)
Diagnosis of human heritable defects by recombinant DNA methods. (1988) (1)
Diagnosis And Characterization of New Mutations in Man (1988) (1)
The human genome project and clinical medicine. (1992) (1)
Molecular genetics of HPRT deficiency. (1989) (1)
Quantitation and characterization of alpha1-antitrypsin in amniotic fluid from first trimester pregnancies. (1976) (1)
Unsupervised integration of multimodal dataset identifies novel signatures of health and disease (2018) (1)
Somatic Cell Genetics (1982) (1)
Purification and characterization of hypoxanthine-guanine phosphoribosyltransferase from Saccharomyces cerevisiae. (1981) (1)
2021 Allan Award. (2022) (1)
Inherited biochemical defects affecting the kidney. (1976) (1)
Mutational diversity at the human HPRT locus. (1986) (1)
The large DNA insert cloning workshop. (1990) (1)
Response to Whiffin et al. (2019) (1)
Precision medicine in neurology (2020) (1)
POSSIBILITY OF PRENATAL DIAGNOSIS OF DUCHENNE MUSCULAR DYSTROPHY (DMD) (1977) (1)
Physician-laboratory interface in X-chromosome mapping. (1991) (1)
Germ line correction of OTC deficiency in SPF mice. (1990) (1)
New aid to human gene mapping. (1985) (1)
Medical genetics. (1997) (1)
Antisense and Differentiation (1992) (1)
Identifiying inherited disease through the family history. (1975) (1)
Genetic therapy: somatic gene transplants. (1987) (1)
The American Medical Association Scientific Journals 1993 Theme Issues on Molecular Genetics and Medicine: Call for Papers (1993) (0)
Molecular genetics and medicine. A call for papers. (1993) (0)
Polymerase Chain Reaction Analysis of Dystrophin Transcripts Total RNA from human cardiac (2005) (0)
Gene therapy. (1990) (0)
Isolation of cDNA clones for the catalytic y subunit of mouse (0)
Prospects for human gene therapy. (1993) (0)
Rapid Publication Patient Selection May Affect Gene Therapy Success Dominant Negative Effects Observed for Ornithine Transcarbamylase in Mouse and Human Hepatocytes (1996) (0)
Access sequence analysis of nucleic acids by primer extension in parallel. (1994) (0)
DNA typing and polymorphisms in a short tandem repeat and identification of polymorphic short tandem repeats. (1992) (0)
Detecting Lesch-Nyhan syndrome by solid phase primer extension (1994) (0)
Nuclease Sensitivity oftheMouseHPRT GenePromoter Region: Differential Sensitivity ontheActive andInactive X Chromosomes (1987) (0)
Stephen T. Warren: Human geneticist who advanced understanding of mutational mechanisms and developmental disorders (2021) (0)
Fragile X syndrome. Improving understanding and diagnosis. (1994) (0)
A gene expression microarray database for drug metabolism and toxicology (1999) (0)
Multiple genomic DNA amplification for the detection of a deletion (1989) (0)
Recombinant DNA methods for prenatal diagnosis. (1983) (0)
Mapping and ordered cloning of the human X chromosome. Final progress report, March 1991--February 1995 (1995) (0)
Direct DNA sequence analysis of in vitro amplified hprt cDNA from Lesch-Nyhan patients (1989) (0)
Young presidents’ organization (YPO) and physician volunteers (2015) (0)
Metabolomics adds function to precision diagnosis (2017) (0)
Nirenberg, Marshall Warren (2013) (0)
Molecular analysis of deletion mutations at the HPRT locus in CHO cells using the polymerase chain reaction (1991) (0)
Murine Ornithine Transcarbamylase: Structure and Expression (1989) (0)
Deletion andAmplification oftheHGPRTLocusinChinese Hamster Cells (1983) (0)
76 MORPHOLOGIC CHARACTERIZATION OF A MURINE X-LINKED MUSCULAR DYSTROPHY (1984) (0)
Tissue-directed gene delivery systems (2020) (0)
Mapping and ordered cloning of the human X chromosome. Progress report, September 1991--November 1992 (1992) (0)
AN AFFECTED FEMALE CARRIER OF DUCHENNE MUSCULAR DYSTROPHY WITH ASSOCIATED MITRAL VALVE PROLAPSE (1987) (0)
GENE MAP OF MAN AS IT RELATES TO DISEASE (1996) (0)
Mapping and ordered cloning of the human X chromosome (1992) (0)
Abstract 18351: Proprotein Convertase Subtilisin/kexin Type 9 Interacts and Regulates ApolipoproteinB (2010) (0)
Lesch-Nyhan syndrome: mutation, prevention, and therapy. (1987) (0)
A Isolation and Sequencing of the Human Urate Oxidase (0)
Nucleic Acid Sequence Analysis BY THE WAY OF PARALLEL PRIMER EXTENSION (1994) (0)
HUGO and gene patents (1995) (0)
Patent Number : 5 , 582 , 989 45 ) Date of Patent : Dec . 10 , 1996 (2017) (0)
Repetitive oligonucleotides matrix (1995) (0)
Muscular Dystrophies Affecting the Heart (2007) (0)
Groupements repetes d'oligonucleotides (1995) (0)
Medical genetics. (1990) (0)
DNA amplification of multiple genomes for the detection of deletions. (1989) (0)
Messenger RNA and ribosomes in protein synthesis (biochemical society symposium no. 47): edited by C. F. Phelps and H. R. V. Arnstein, The Biochemical Society, London, 1982. £25.00 (x + 213 pages) ISBN 0 904 49814 X (1983) (0)
The new genetics and clinical practice. Second edition By D. J. Weatherall. Oxford, England: Oxford University Press. (1985). 206 pp. $15.95 (1986) (0)
Prospects for gene replacement therapy. (1987) (0)
Evaluation of a genetic disease education program for Tay-Sachs screening. (1977) (0)
Genetics: New aid to human gene mapping (1985) (0)
Duchenne muscular dystrophy: a genetic approach for disease prevention. (1981) (0)
EXPRESSION OF HUMAN AND MOUSE HPRT MINIGENES: 31 (1985) (0)
Expression of human and mouse HPRT minigenes. (1986) (0)
The RNA code: Nature’s Rosetta Stone (2014) (0)
NUCLECACDS WITH DIGOXIGENN REAGENTS AND THEIR USE IN GENE PROBE TEST SYSTEMS (2017) (0)
N-Acetylglucosamine 6-Sulfate Sulfatase Deficiency: A New Mucopolysaccharidosis (1979) (0)
CCTGATTTTA TTTCTATAGG ACTGAAAGAC TTGCTCGAGA TGTCATGAAG GAGATGGGAG GCCATCACAT TGTGGCCCTC TGTGTGCTCA AGGGGGGCTA TAAGTTCTTT GCTGACCTGC TGGATTACAT TAAAGCACTG AATAGAAATA GTGATAGATC CATTCCTATG ACTGTAGATT TTATCAGACT GAAGAGCTAC TGTGTAAGTA TAATTACTTA TAATTAAAAA ATAGGCATCA GTTTAAC Exon 4 GTTCTTTTTT CAACTAGAAT (0)
The convergence of disruptive technologies enabling a new industrial approach to health products (2003) (0)
Interaction of cDNA library with a chromosome-specific cosmid library: cloning chromosome-specific cDNAs (1994) (0)
Prenatal and carrier detection of Duchenne muscular dystrophy using recombinant DNA technology (1988) (0)
Resource Profound Perturbation of t he Metabolome in Obesity Is Associated with Health Risk Graphical (2019) (0)
Structure, expression, and mutation of the hypoxanthine phosphoribosyltransferase gene (intervening sequences/transcriptional initiation/minigene) (2016) (0)
Introduction: Unstable repeat diseases (1995) (0)
Human gene expression in murine hemopoietic cells in vivo. (1988) (0)
45 – Mammalian Release Factor; in Vitro Assay and Purification 1 (1981) (0)
Medical genetics (2012) (0)
Protocols Techniques in somatic cell genetics. Edited by J. Shay. New York: Plenum Press. (1982). 541 pp. $49.50 (1983) (0)
New Editors, Features and Procedures (1989) (0)
Genetic testing--improving health; calculating risk. (1995) (0)
Molecular dissection of a cosmid from a gene-rich region in 17q21 and characterization of a candidate gene for α-N-acetylglucosaminidase with two cDNA isoforms (1996) (0)
Activity of X-linked genes in stem and differentiated Mus musculus X Mus caroli hybrid cells. (1984) (0)
9th Ernst Klenk Lecture. Molecular medicine. (1992) (0)
Amplification of plurality of chromosome dna for deletion detection (1989) (0)
Reply to Dr. Zatz: Transposon-like element in the dystrophin gene (1993) (0)
Antisense RNA production in mammalian fibroblasts and transgenic mice (1992) (0)
Adenoviral gene therapy for duchenne muscular dystrophy (1996) (0)

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