C. Caskey

C. Caskey, Virginia V. Michels, 1979, International journal of gynaecology and obstetrics: the official organ of the International Federation of Gynaecology and Obstetrics.

CAG repeat size and clinical presentation in Huntington's disease

J. Jankovic, C. Richards, T. Ashizawa, 1994, Neurology.

Population‐specific screening by mutation analysis for diseases frequent in Ashkenazi Jews

C. Richards, C. Caskey, J. Demarchi, 1996, Human mutation.

Expression of human adenosine deaminase in murine haematopoietic progenitor cells following retroviral transfer

J. Belmont, J. Dick, C. Caskey, 1986, Nature.

Developments Leading to Human Gene Therapy

J. Belmont, C. Caskey, 1986 .

Mice deficient in the urea‐cycle enzyme, carbamoyl phosphate synthetase i, die during the early neonatal period from hyperammonemia

C. Caskey, T. Cox, J. Schofield, 1999, Hepatology.

Improved molecular diagnostics for ornithine transcarbamylase deficiency.

C. Caskey, M. Grompe, R. Fenwick, 1991, American journal of human genetics.

Carrier detection and prenatal diagnosis in Duchenne and Becker muscular dystrophy families, using dinucleotide repeat polymorphisms.

R. Gibbs, M. de Andrade, C. Caskey, 1991, American journal of human genetics.

The Chinese hamster HPRT gene: restriction map, sequence analysis, and multiplex PCR deletion screen.

D. Muzny, J. Fuscoe, C. Caskey, 1991, Genomics.

Applications of recombinant DNA to pathologic diagnosis.

C. Caskey, C. D. Sauls, 1985, Clinical chemistry.

Newborn screening for sickling hemoglobinopathies. Houston, 1976 to 1980.

R. Nussbaum, C. Caskey, D. Fernbach, 1984, American journal of diseases of children.

Plasma metabolomic profiles enhance precision medicine for volunteers of normal health

Manuel L Gonzalez-Garay, C Thomas Caskey, Lining Guo, 2015, Proceedings of the National Academy of Sciences.

DNA Diagnosis in Monogenic Diseases

C. Caskey, B. Rossiter, R. Alford, 1994, International Journal of Technology Assessment in Health Care.

Clinical Applications of the Polymerase Chain Reaction

C. Caskey, B. Rossiter, 1994 .

Multiplex DNA amplification and solid-phase direct sequencing for mutation analysis at the hprt locus in Chinese hamster cells.

R. Gibbs, C. Caskey, Y. Yu, 1993, Mutation research.

Molecular Medicine: A Spin-off From the Helix

C. Caskey, C. T. Caskey, 1993 .

Genetic marker technology.

C. Caskey, A. Edwards, 1991, Current opinion in biotechnology.

Diagnosis of New Mutation Diseases Using the Polymerase Chain Reaction

R. Gibbs, C. Caskey, J. Chamberlain, 1989 .

Generation of cDNA probes directed by amino acid sequence: cloning of urate oxidase.

R. Gibbs, D. Muzny, R. Cook, 1988, Science.

The molecular basis of the sparse fur mouse mutation.

R. Gibbs, S. Scherer, G. Veres, 1987, Science.

Isolation and characterization of LRP6, a novel member of the low density lipoprotein receptor gene family.

E R Levy, M. Metzker, R. Cox, 1998, Biochemical and biophysical research communications.

An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge

Daniel Nilsson, Peter Szolovits, Karen Eilbeck, 2014, Genome Biology.

Truncating mutations of MAGEL2cause Prader-Willi phenotypes and autism

B. Peters, R. Drmanac, A. Beaudet, 2013, Nature Genetics.

DMD‐specific FISH probes are diagnostically useful in the detection of female carriers of DMD gene deletions

L. Shaffer, C. Richards, A. Peier, 1997, Neurology.

Molecular and clinical correlations of deletions leading to Duchenne and Becker muscular dystrophies

C. Caskey, P. Ward, L. Baumbach, 1989, Neurology.

Leptin receptor missense mutation in the fatty Zucker rat

M. Phillips, C. Caskey, J. Hess, 1996, Nature Genetics.

It's the genes! EST access to human genome content

D. Gerhold, C. Caskey, C. Caskey, 1996, BioEssays : news and reviews in molecular, cellular and developmental biology.

Closure strategies for random DNA sequencing

C. Caskey, A. Edwards, A Edwards, 1991 .

Identification of the gene responsible for Best macular dystrophy

M. Metzker, C. Wadelius, C. Austin, 1998, Nature Genetics.

Alu polymerase chain reaction: a method for rapid isolation of human-specific sequences from complex DNA sources.

D. Ledbetter, R. Ramirez-Solis, D. Nelson, 1989, Proceedings of the National Academy of Sciences of the United States of America.

45,X/46,X,+r(X) can have a distinct phenotype different from Ullrich-Turner syndrome.

C. Caskey, M. Grompe, F. Greenberg, 1992, American journal of medical genetics.

DNA methylation represses FMR-1 transcription in fragile X syndrome.

J. Sutcliffe, D. Nelson, S. Warren, 1992, Human molecular genetics.

The gene for a human microfibril-associated glycoprotein is commonly deleted in Smith-Magenis syndrome patients.

A. Baldini, C. Caskey, S. Jiralerspong, 1995, Human molecular genetics.

A transposon-like element in the deletion-prone region of the dystrophin gene.

R. Gibbs, C. Caskey, A. Pizzuti, 1992, Genomics.

A genetic linkage map of five marker loci in and around the Duchenne muscular dystrophy locus.

K. Fischbeck, C. Caskey, C. Boehm, 1989, Genomics.

Diagnosis of Duchenne and Becker muscular dystrophies by polymerase chain reaction. A multicenter study.

D. Bentley, A. Covone, C. Junien, 1992, JAMA.

Precision medicine in neurology

C. Caskey, J. Posey, Hung-Chun Yu, 2020 .

Identification of misclassified ClinVar variants using disease population prevalence

N. Shah, J. Venter, A. Telenti, 2016, bioRxiv.

Presymptomatic Testing for Genetic Diseases of Later Life

C. Caskey, B. Rossiter, 1995, Drugs & aging.

Hydrolysis of fMet-tRNA by peptidyl transferase.

A. Beaudet, E. Scolnick, C. Caskey, 1971, Proceedings of the National Academy of Sciences of the United States of America.

Peptide chain termination: effect of protein S on ribosomal binding of release factors.

C. Caskey, J. Goldstein, 1970, Proceedings of the National Academy of Sciences of the United States of America.

Evaluation of 13 short tandem repeat loci for use in personal identification applications.

L. Jin, C. Caskey, R. Chakraborty, 1994, American journal of human genetics.

Report of the MDA Gene Therapy Conference, Tucson, Arizona, September 27–28, 1991

C. Caskey, N. Stirpe, Belinda J. F. Rossiter, 1992, Neurology.

Expression of the murine Duchenne muscular dystrophy gene in muscle and brain.

R. Gibbs, D. Muzny, C. Caskey, 1988, Science.

Multiplex DNA deletion detection and exon sequencing of the hypoxanthine phosphoribosyltransferase gene in Lesch-Nyhan families.

R. Gibbs, C. Caskey, A. Edwards, 1990, Genomics.

Gene therapy of the immune system.

C. Caskey, D. Cournoyer, C T Caskey, 1993, Annual review of immunology.

PCR test for cystic fibrosis deletion

R. Gibbs, A. Ballabio, C. Caskey, 1990, Nature.

Human gene expression in murine hemopoietic cells in vivo.

J. Belmont, C. Caskey, K. Moore, 1988, Advances in experimental medicine and biology.

A new adenoviral vector: Replacement of all viral coding sequences with 28 kb of DNA independently expressing both full-length dystrophin and beta-galactosidase.

C. Caskey, S. Kochanek, K. Mitani, 1996, Proceedings of the National Academy of Sciences of the United States of America.

Expression of human and mouse HPRT minigenes.

A. C. Chinault, C. Caskey, D. Melton, 1986, Advances in experimental medicine and biology.

Urate oxidase: primary structure and evolutionary implications.

D. Muzny, C. Caskey, X. Wu, 1989, Proceedings of the National Academy of Sciences of the United States of America.

Hyperuricemia and urate nephropathy in urate oxidase-deficient mice.

A. Bradley, C. Caskey, X. Wu, 1994, Proceedings of the National Academy of Sciences of the United States of America.

Trinucleotide repeat disorders in humans: discussions of mechanisms and medical issues

C. Caskey, L. Timchenko, 1996, FASEB journal : official publication of the Federation of American Societies for Experimental Biology.

The function, structure and regulation of E. coli peptide chain release factors.

W. Craigen, C. Caskey, 1987, Biochimie.

Disease diagnosis by recombinant DNA methods.

C. Caskey, 1987, Science.

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.

M. de Andrade, C. Caskey, R. Chakraborty, 1994, Genomics.

Human genetic disease and the medical need for somatic gene therapy

C. Caskey, A. Moseley, 1993 .

Prospects for human gene therapy.

C. Caskey, A. Moseley, 1993, Genetic engineering.

Amplification versus mutation as a mechanism for reversion of anHGPRT mutation

J. Fuscoe, C. Caskey, R. Fenwick, 1984, Somatic cell and molecular genetics.

Profound Perturbation of the Metabolome in Obesity Is Associated with Health Risk

T. Spector, E. Kirkness, N. Shah, 2019, Cell metabolism.

Profound perturbation of the human metabolome by obesity

T. Spector, E. Kirkness, N. Shah, 2018, bioRxiv.

Hypoxanthine-guanine phosphoribosyltransferase genes of mouse and Chinese hamster: construction and sequence analysis of cDNA recombinants.

A. C. Chinault, J. Fuscoe, C. Caskey, 1982, Nucleic acids research.

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.

R. Gibbs, A. Ballabio, D. Nelson, 1991, Proceedings of the National Academy of Sciences of the United States of America.

Ectopic correction of ornithine transcarbamylase deficiency in sparse fur mice.

G. Veres, W. Craigen, C. Caskey, 1990, The Journal of biological chemistry.

9 – Peptide Chain Termination

C. Caskey, 1977 .

Detection of Fabry's disease heterozygotes by hair root analysis

A. Beaudet, C. Caskey, 1978, Clinical genetics.

Triplet repeat mutations in human disease.

D. Nelson, C. Caskey, A. Pizzuti, 1992, Science.

Sporadic occurrence of Duchenne Muscular Dystrophy: evidence for new mutation

R. Nussbaum, C. Caskey, L. Pollack, 1980, Clinical genetics.

N-Acetylglucosamine-6-Sulfate Sulfatase in Man: Deficiency of the Enzyme in a New Mucopolysaccharidosis

C. Caskey, L. Ginsberg, N. Ferrante, 1978, Pediatric Research.

Point mutations and polymorphisms in the human dystrophin gene identified in genomic DNA sequences amplified by multiplex PCR

C. Caskey, A. Pizzuti, M. Grompe, 1992, Human Genetics.

PCR analysis of dystrophin gene mutation and expression

C. Caskey, J. Chamberlain, G. Cox, 1991, Journal of cellular biochemistry.

A genome approach to the human X chromosome.

C. Caskey, 1991, Current opinion in genetics & development.

Molecular studies of human genetic disease

C. Caskey, B. Rossiter, 1991, FASEB journal : official publication of the Federation of American Societies for Experimental Biology.

Gene transfer therapy for heritable disease: cell and expression targeting.

C. Caskey, P. Clemens, K. Mitani, 1993, Philosophical transactions of the Royal Society of London. Series B, Biological sciences.

Advances toward gene therapy

C. Caskey, M. Scarpa, S. Jones, 1989 .

Carrier diagnosis of Duchenne muscular dystrophy using restriction fragment length polymorphisms

C. Caskey, P. Ward, J. Hejtmancik, 1986, Neurology.

Hypermutable myotonic dystrophy CTG repeats in transgenic mice

C. Caskey, M. Siciliano, D. Monckton, 1997, Nature Genetics.

Somatic mosaicism, germline expansions, germline reversions and intergenerational reductions in myotonic dystrophy males: small pool PCR analyses.

T. Ashizawa, C. Caskey, L. Wong, 1995, Human molecular genetics.

Using genetic diagnosis to determine individual therapeutic utility.

C. Caskey, 2010, Annual review of medicine.

The myotonic dystrophy gene.

C. Caskey, A. Pizzuti, D. Friedman, 1993, Archives of neurology.

Somatic heterogeneity of the CTG repeat in myotonic dystrophy is age and size dependent.

C. Richards, T. Ashizawa, C. Caskey, 1995, American journal of human genetics.

Inhibition of peptide chain termination by antibodies specific for ribosomal proteins.

W. Tate, C. Caskey, 1975, Journal of molecular biology.

Detection of Gene Deletions Using Multiplex Polymerase Chain Reactions

R. Gibbs, C. Caskey, J. Chamberlain, 1991 .

Recent advances in peptide chain termination

W. Craigen, C. Caskey, C T Caskey, 1990, Molecular microbiology.

Immunologic evidence for structural homology between the release factors of Escherichia coli.

C. Caskey, J. Ratliff, 1977, Archives of biochemistry and biophysics.

Influence of guanine nucleotides and elongation factors on interaction of release factors with the ribosome.

A. Beaudet, W. Tate, C. Caskey, 1973, Proceedings of the National Academy of Sciences of the United States of America.

Precision medicine screening using whole-genome sequencing and advanced imaging to identify disease risk in adults

Anders M. Dale, James B. Brewer, Victor Lavrenko, 2017, Proceedings of the National Academy of Sciences.

Peptide chain termination with mammalian release factor.

A. Beaudet, C. Caskey, J. Goldstein, 1970, Proceedings of the National Academy of Sciences of the United States of America.

Failure of fetal creatine phosphokinase as a diagnostic indicator of Duchenne muscular dystrophy.

J. Hobbins, C. Caskey, B. Banker, 1979, The New England journal of medicine.

Expression and Localization of Dystrophin in Human Cardiac Purkinje Fibers

C. Caskey, R. Roberts, M. Perryman, 1992, Circulation.

Muscular Dystrophies Affecting the Heart

C. Caskey, 2007 .

Premature chain termination mutation causing Duchenne muscular dystrophy

C. Caskey, P. Ward, D. Bulman, 1992, Neurology.

Rapid and efficient resolution of parentage by amplification of short tandem repeats.

C. Caskey, H. A. Hammond, R. Alford, 1994, American journal of human genetics.

Organization of the HPRT gene and related sequences in the human genome

D. Ledbetter, A. C. Chinault, P. Patel, 1984, Somatic cell and molecular genetics.

Ivemark syndrome in siblings

C. Caskey, Raye C. Hurwitz, 1982, Clinical genetics.

Derivation of TK- clones from revertant TK+ mammalian cells.

C. Caskey, D. Roufa, B. N. Sadow, 1973, Genetics.

Triplet repeat disorders: discussion of molecular mechanisms

C. Caskey, L. Timchenko, 1999, Cellular and Molecular Life Sciences CMLS.

Molecular genetics of myotonic dystrophy.

C. Caskey, M. Perryman, D. Friedman, 1993, Trends in cardiovascular medicine.

Anticipation in myotonic dystrophy

E. Boerwinkle, T. Ashizawa, C. Caskey, 1992, Neurology.

Biochemical characterization of azetidine carboxylic acid-resistant Chinese hamster cells

C. Caskey, J. Wasmuth, 1976, Cell.

Unstable triplet repeat diseases.

C. Caskey, D. Monckton, 1995, Circulation.

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.

L. Jin, C. Caskey, H. A. Hammond, 1993, American journal of human genetics.

Forensic Use of Short Tandem Repeats via PCR

C. Caskey, H. A. Hammond, 1992 .

Identification of receptors for neuromedin U and its role in feeding

Christopher P. Austin, Jilly F. Evans, C. Thomas Caskey, 2000, Nature.

Patent Number : 5 , 582 , 989 45 ) Date of Patent : Dec . 10 , 1996

R. Gibbs, C. Caskey, Laure, 2017 .

Identification and cloning of an orphan G protein-coupled receptor of the glycoprotein hormone receptor subfamily.

T. Mcdonald, C. Caskey, Ruiping Wang, 1998, Biochemical and biophysical research communications.

[38] Release factors: in vitro assay and purification

E. Scolnick, C. Caskey, J. Goldstein, 1971 .

Deficiencies of Glucosamine-6-Sulfate or Galactosamine-6-Sulfate Sulfatases Are Responsible for Different Mucopolysaccharidoses

C. Caskey, L. Ginsberg, N. Di Ferrante, 1978, Science.

N-Acetylglucosamine 6-Sulfate Sulfatase Deficiency: A New Mucopolysaccharidosis

C. Caskey, L. Ginsberg, N. Ferrante, 1979 .

PCR amplification and analysis of yeast artificial chromosomes.

J. Sutcliffe, D. Nelson, S. Warren, 1992, Genomics.

Construction of plasmids that express E. coli beta-galactosidase in mammalian cells.

C. Caskey, G. MacGregor, C. Caskey, 1989, Nucleic acids research.

The human as an experimental system in molecular genetics.

R. White, C. Caskey, 1988, Science.

Mucolipidosis II: unusual presentation with a congenital angulated fracture

C. Caskey, V. Michels, R. Dutton, 1982, Clinical genetics.

Mapping of hKCa3 to chromosome 1q21 and investigation of linkage of CAG repeat polymorphism to schizophrenia

C. Austin, C. Caskey, D. Holder, 1999, Molecular Psychiatry.

Molecular genetics and medicine. A call for papers.

C. Caskey, A. Motulsky, W. W. McLendon, 1992, JAMA.

Amniotic-fluid-cell-culture failure and syringe toxicity revisited.

D. Ledbetter, C. Caskey, R. Carpenter, 1982, American journal of human genetics.

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).

D. Ledbetter, H. Zoghbi, C. Caskey, 1991, American journal of human genetics.

An intact cysteine-rich domain is required for dystrophin function.

C. Caskey, R. Fenwick, C T Caskey, 1992, The Journal of clinical investigation.

Troponin T is capable of binding dystrophin via a leucine zipper

S. Elledge, C. Caskey, J. Pearlman, 1994, FEBS letters.

Polymerase Chain Reaction Analysis of Dystrophin Transcripts Total RNA from human cardiac

C. Caskey, R. Roberts, M. Perryman, 2005 .

Restoration of dystrophin‐associated proteins in skeletal muscle of mdx mice transgenic for dystrophin gene

K. Campbell, C. Caskey, Cheng Chi Lee, 1993, FEBS letters.

A milestone in human genetics.

C. Caskey, 1986, Cold Spring Harbor symposia on quantitative biology.

Recombinant truncated dystrophin minigenes: construction, expression, and adenoviral delivery.

C. Caskey, F. Graham, P. Clemens, 1995, Human gene therapy.

Gene Transfer of a Murine Dystrophin Minigene Construct

C. Caskey, P. Clemens, C. C. Lee, 1992 .

Novel proteins with binding specificity for DNA CTG repeats and RNA CUG repeats: implications for myotonic dystrophy.

C. Caskey, R. Roberts, L. Timchenko, 1996, Human molecular genetics.

Antisense RNA inhibition of endogenous genes.

C. Caskey, J. T. Stout, 1987, Methods in enzymology.

Peptidyltransferase inhibition by trichodermin.

W. Tate, C. Caskey, 1973, The Journal of biological chemistry.

9p monosomy in a patient with Gilles de la Tourette's syndrome

J. Jankovic, C. Caskey, D. Krizman, 1991, Neurology.

Triplet Repeat Mutations in Human Disease

C. Caskey, A. Pizzuti, Ying-Hui Fu, 1992, Science.

6 – cDNA CLONING USING DEGENERATE PRIMERS

C. Caskey, Cheng Chi Lee, 1990 .

Unsupervised integration of multimodal dataset identifies novel signatures of health and disease

T. Spector, E. Kirkness, N. Shah, 2018, bioRxiv.

Aberrant GlyRS-HDAC6 interaction linked to axonal transport deficits in Charcot-Marie-Tooth neuropathy

R. Burgess, C. Caskey, S. Pfaff, 2018, Nature Communications.

Characterization and genomic mapping of genes and pseudogenes of a new human protein tyrosine phosphatase.

J. Bailey, C. Caskey, D. Monckton, 1996, Genomics.

Characterization of reticulocyte release factor.

W. Tate, C. Caskey, D. Konecki, 1977, The Journal of biological chemistry.

Mammalian peptide chain termination. II. Codon specificity and GTPase activity of release factor.

A. Beaudet, C. Caskey, 1971, Proceedings of the National Academy of Sciences of the United States of America.

A molecular survey of hypoxanthine-guanine phosphoribosyltransferase deficiency in man.

B. Davidson, C. Caskey, J. Wilson, 1986, The Journal of clinical investigation.

Identification of two hERR2-related novel nuclear receptors utilizing bioinformatics and inverse PCR.

T. Mcdonald, C. Caskey, Q. Zhang, 1999, Gene.

Merck, SmithKline and patents

C. Caskey, A. Williamson, 1996, Nature.

The sulfatase gene family: cross-species PCR cloning using the MOPAC technique.

A. Ballabio, C. Caskey, M. Pieretti, 1992, Genomics.

[7] Direct complementary DNA cloning using polymerase chain reaction

C. Caskey, Cheng Chi Lee, 1992 .

Generation of cDNA Probes by Reverse Translation of Amino Acid Sequence

C. Thomas Caskey, Cheng Chi Lee, C. Caskey, 1989 .

Forensic DNA technology

C. Thomas Caskey, C. Caskey, 1992 .

Delivering therapeutic genes--matching approach and application.

C. Caskey, K. Mitani, 1993, Trends in biotechnology.

Presymptomatic diagnosis: a first step toward genetic health care.

C. Caskey, Charles T. Caskey, 1993, Science.

Patient selection may affect gene therapy success. Dominant negative effects observed for ornithine transcarbamylase in mouse and human hepatocytes.

C. Caskey, W. O'Brien, F. Graham, 1996, The Journal of clinical investigation.

Myotonic dystrophy: an unstable CTG repeat in a protein kinase gene.

C. Caskey, D. Monckton, L. Timchenko, 1995, Seminars in cell biology.

Antisense and Differentiation

C. Caskey, 1992, Annals of the New York Academy of Sciences.

In vitro translation of hypoxanthine/guanine phosphoribosyltransferase mRNA: characterization of a mouse neuroblastoma cell line that has elevated levels of hypoxanthine/guanine phosphoribosyltransferase protein.

D. Ledbetter, C. Caskey, D. Melton, 1981, Proceedings of the National Academy of Sciences of the United States of America.

ASHG human genome committee report. The human genome project: implications for human genetics.

C. Caskey, R. Worton, 1991, American Journal of Human Genetics.

Exclusion of Usher syndrome gene from much of chromosome 4.

S. Daiger, C. Caskey, B. Alford, 1989, Cytogenetics and cell genetics.

Failure in detecting mRNA transcripts from the mutated allele in myotonic dystrophy muscle.

C. Caskey, B. Dallapiccola, A. Pizzuti, 1993, Biochemistry and molecular biology international.

Reply to Dr. Zatz: Transposon-like element in the dystrophin gene

C. Caskey, 1993 .

Cloning of the Escherichia coli release factor 2 gene

W. Tate, C. Caskey, W. Forrester, 1984, Journal of bacteriology.

Release factor binding to ribosome requires an intact 16 S rRNA 3' terminus.

C. Caskey, L. Bosch, D. Konecki, 1977, Journal of Biological Chemistry.

Whole-genome sequencing identifies common-to-rare variants associated with human blood metabolites

E. Kirkness, J. Venter, N. Schork, 2017, Nature Genetics.

Non-viral approaches to gene therapy.

C. Caskey, J. Schofield, C. T. Caskey, 1995, British medical bulletin.

Molecular analysis of a female Lesch-Nyhan patient.

C. Caskey, J. T. Stout, H. Goto, 1989, The Journal of clinical investigation.

Isolation and Analysis of Chinese Hamster Cells Carrying Forward and Reverse Mutations in the Hypoxanthine-Guanine Phosphoribosyltransferase Locus

C. Caskey, R. Fenwick, D. Konecki, 1982 .

First trimester diagnosis of lesch‐nyhan syndrome: Applications to other disorders of purine metabolism

C. Caskey, L. Jackson, J. Stout, 1985, Prenatal diagnosis.

Predispositional genome sequencing in healthy adults: design, participant characteristics, and early outcomes of the PeopleSeq Consortium

M. Ball, G. Church, R. Green, 2019, Genome medicine.

The RNA code: Nature’s Rosetta Stone

P. Leder, C. Caskey, 2014, Proceedings of the National Academy of Sciences.

Allelic ladder characterization of the short tandem repeat polymorphism located in the 5' flanking region to the human coagulation factor XIII A subunit gene.

C. Caskey, H. A. Hammond, J. Schumm, 1994, Genomics.

Full-length myotonin protein kinase (72 kDa) displays serine kinase activity.

C. Caskey, F. Hofmann, W. Nastainczyk, 1995, Proceedings of the National Academy of Sciences of the United States of America.

Annual Review of Medicine: Selected Topics in the Clinical Sciences, Vol. 30, 1979

E. W. Hancock, A. Degraff, C. Caskey, 1979 .

Mammalian release factor; in vitro assay and purification.

A. Beaudet, W. Tate, C. Caskey, 1974, Methods in Enzymology.

Selection of temperature-sensitive CHL asparagyl-tRNA synthetase mutants using the toxic lysine analog, S-2-aminoethyl-L-cysteine

C. Caskey, J. Wasmuth, 1976, Cell.

Response to Whiffin et al.

N. Shah, J. Venter, A. Telenti, 2019, American journal of human genetics.

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

C. Caskey, B. Dallapiccola, A. Pizzuti, 1993 .

Recombinant DNA applications to human disease

C. Caskey, Raymon L. White, 1983 .

The American Society of Human Genetics statement on cystic fibrosis screening.

A. Beaudet, C. Caskey, M. Kaback, 1990, American journal of human genetics.

Translational frameshifting: Where will it stop?

C. Thomas Caskey, William J. Craigen, W. Craigen, 1987, Cell.

Induced reversion of a spontaneous point mutation within the Chinese hamster HPRT gene to the wild-type sequence.

D. Muzny, I. Hampson, C. Caskey, 1990, Mutagenesis.

Helper-dependent adenoviral vectors as gene delivery vehicles

C. Caskey, D. Harvey, M. Morsy, 2001 .

Murine Ornithine Transcarbamylase: Structure and Expression

S. Scherer, G. Veres, W. Craigen, 1989 .

Induction of the Cyp1a-1 dioxin-responsive enhancer in transgenic mice.

W. Craigen, C. Caskey, S. Jones, 1991, Nucleic acids research.

DMD carrier detection and prenatal diagnosis via recombinant DNA methods.

C. Caskey, P. Ward, F. Hejtmancik, 1988, Advances in neurology.

Molecular detection and correction of ornithine transcarbamylase deficiency.

C. Caskey, M. Grompe, S. Jones, 1990, Trends in Genetics.

The genetic structure of mouse ornithine transcarbamylase.

S. Scherer, G. Veres, C. Caskey, 1988, Nucleic acids research.

Expression of human adenosine deaminase in murine hematopoietic cells

J. Belmont, C. Caskey, K. Moore, 1988, Molecular and cellular biology.

High functioning fragile X males: demonstration of an unmethylated fully expanded FMR-1 mutation associated with protein expression.

S. Thibodeau, D. Nelson, C. Caskey, 1994, American journal of medical genetics.

Characterization of dystrophin in muscle-biopsy specimens from patients with Duchenne's or Becker's muscular dystrophy.

R. Waterston, K. Fischbeck, L. Kunkel, 1988, The New England journal of medicine.

Two independent mutational events in the loss of urate oxidase during hominoid evolution

D. Muzny, C. Caskey, Cheng Chi Lee, 2004, Journal of Molecular Evolution.

Molecular detection of new mutations, resolution of ambiguous results and complex genetic counseling issues in Huntington disease.

J. Jankovic, C. Richards, T. Ashizawa, 1996, American journal of medical genetics.

The human genome project. Purpose and potential.

C. Caskey, B. Rossiter, C T Caskey, 1992, The Journal of pharmacy and pharmacology.

DNA chips: promising toys have become powerful tools.

D. Gerhold, C. Caskey, C. Caskey, 1999, Trends in biochemical sciences.

An economic evaluation of a genetic screening program for Tay-Sachs disease.

C. Caskey, W. Nelson, J. Swint, 1978, American journal of human genetics.

Lissencephaly gene (LIS1) expression in the CNS suggests a role in neuronal migration

G. Eichele, C. Caskey, O. Reiner, 1995, The Journal of neuroscience : the official journal of the Society for Neuroscience.

Isolation of chromosome-specific genes by reciprocal probing of arrayed cDNA and cosmid libraries.

A. C. Chinault, J. Bailey, A. Baldini, 1995, Human molecular genetics.

Southern analysis of the Lesch-Nyhan locus in man.

R. Nussbaum, C. Caskey, W. Nyhan, 1984, Advances in experimental medicine and biology.

Forward and reverse mutations affecting the kinetics and apparent molecular weight of mammalian HGPRT

C. Caskey, G. Kruh, R. Fenwick, 1977, Cell.

Carrier detection and prenatal diagnosis in Duchenne and Becker muscular dystrophy families, using dinucleotide repeat polymorphisms.

R. Gibbs, C. Caskey, J. Chamberlain, 1991, American journal of human genetics.

Trinucleotide repeat disorders in humans: discussions of mechanisms and medical issues

C. Caskey, L. Timchenko, 1996, FASEB journal : official publication of the Federation of American Societies for Experimental Biology.

Tissue-directed gene delivery systems

C. Caskey, M. Chastain, C. Middaugh, 2020 .