Physician
Pediatrics
Dr. Charles M. Strom, MD
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Charles M. Strom works in the field of Pediatrics. He attended University of Chicago Pritzker School of Medicine. University of Chicago Pritzker School of Medicine is ranked 10/19 in Research/PrimaryCare. Charles Strom is also published. He has 95 publications published. The lastest publication: "Preimplantation diagnosis of single disorders.'
Publications
- Discordant noninvasive prenatal testing and cytogenetic results: a study of 109 consecutive cases.
- Changing trends in laboratory testing in the United States: a personal, historical perspective.
- Spectral Karyotyping for Identification of Constitutional Chromosomal Abnormalities at a National Reference Laboratory.
- Testing for variants in CYP2C19: population frequencies and testing experience in a clinical laboratory.
- The dangers of including nonclassical cystic fibrosis variants in population-based screening panels: p.L997F, further genotype/phenotype correlation data.
- Cystic fibrosis testing 8 years on: lessons learned from carrier screening and sequencing analysis.
- FMR1 premutation carrier frequency in patients undergoing routine population-based carrier screening: insights into the prevalence of fragile X syndrome, fragile X-ass...
- Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes.
- Qualitative assessment of FMR1 (CGG)n triplet repeat status in normal, intermediate, premutation, full mutation, and mosaic carriers in both sexes: implications for fr...
- Improving accuracy of Tay Sachs carrier screening of the non-Jewish population: analysis of 34 carriers and six late-onset patients with HEXA enzyme and DNA sequence a...
- Apparent homozygosity of a novel frame shift mutation in the CFTR gene because of a large deletion.
- Prevalence of known mutations in the familial Mediterranean fever gene (MEFV) in various carrier screening populations.
- Characterization of a recurrent novel large duplication in the cystic fibrosis transmembrane conductance regulator gene.
- Development of a novel, accurate, automated, rapid, high-throughput technique suitable for population-based carrier screening for Fragile X syndrome.
- Development of a web-based query tool for quality assurance of clinical molecular genetic test results.
- Molecular testing for Fragile X Syndrome: lessons learned from 119,232 tests performed in a clinical laboratory.
- Technical validation of a TM Biosciences Luminex-based multiplex assay for detecting the American College of Medical Genetics recommended cystic fibrosis mutation panel.
- Rapid one-step carrier detection assay of mucolipidosis IV mutations in the Ashkenazi Jewish population.
- A large deletion in the CFTR gene in CBAVD.
- Sequence variations in AGTR2 are unlikely to be associated with X-linked mental retardation.
- Genetically characterized positive control cell lines derived from residual clinical blood samples.
- Technical validation of a multiplex platform to detect thirty mutations in eight genetic diseases prevalent in individuals of Ashkenazi Jewish descent.
- Detection of 677CT/1298AC "double variant" chromosomes: implications for interpretation of MTHFR genotyping results.
- High-throughput gene sequencing assay development for hereditary nonpolyposis colon cancer.
- Cystic fibrosis population carrier screening: 2004 revision of American College of Medical Genetics mutation panel.
- Population-based carrier screening and prenatal diagnosis.
- Direct visualization of cystic fibrosis transmembrane regulator mutations in the clinical laboratory setting.
- Cystic fibrosis screening: lessons learned from the first 320,000 patients.
- Molecular screening for diseases frequent in Ashkenazi Jews: lessons learned from more than 100,000 tests performed in a commercial laboratory.
- Current challenges in cystic fibrosis screening.
- Frequency of the cystic fibrosis 3199del6 mutation in individuals heterozygous for I148T.
- Invasive trophoblast antigen (hyperglycosylated human chorionic gonadotropin) in second-trimester maternal urine as a marker for down syndrome: preliminary results of ...
- From peapods to laboratory medicine: molecular diagnostics of inheritable diseases.
- Extensive sequencing of the cystic fibrosis transmembrane regulator gene: assay validation and unexpected benefits of developing a comprehensive test.
- Cystic fibrosis screening using the College panel: platform comparison and lessons learned from the first 20,000 samples.
- Characterization of a complex chromosomal rearrangement using chromosome, FISH, and microarray assays in a girl with multiple congenital abnormalities and developmenta...
- Submicroscopic deletion of 5q involving tumor suppressor genes (CTNNA1, HSPA9) and copy neutral loss of heterozygosity associated with TET2 and EZH2 mutations in a cas...
- Measurement of Cetuximab and Panitumumab-Unbound Serum EGFR Extracellular Domain Using an Assay Based on Slow Off-Rate Modified Aptamer (SOMAmer) Reagents.
- Preimplantation diagnosis of single disorders.
- Transabdominal embryoscopy for the detection of Carpenter syndrome during the first trimester.
- Polar body-based preimplantation diagnosis for X-linked disorders.
- Prenatal diagnosis of body stalk anomaly in the first trimester of pregnancy.
- Construction and sequence analysis of subtraction complementary DNA libraries from human preimplantation embryos.
- Prepregnancy genetic testing for age-related aneuploidies by polar body analysis.
- Polar body diagnosis of common aneuploidies by FISH.
- Preimplantation diagnosis of autosomal dominant retinitis pigmentosum using two simultaneous single cell assays for a point mutation in the rhodopsin gene.
- Current status of preimplantation diagnosis.
- Prenatal diagnosis of 46,XX male fetuses.
- Birth of a healthy girl after preimplantation gender determination using a combination of polymerase chain reaction and fluorescent in situ hybridization analysis. Pre...
- Birth of healthy children after preimplantation diagnosis of thalassemias.
- Preimplantation diagnosis of single gene disorders by two-step oocyte genetic analysis using first and second polar body.
- Use of nested PCR to identify charred human remains and minute amounts of blood.
- New syndrome: familial proportionate short stature, intrauterine growth retardation, and recurrent locking of the fingers.
- Reliability of gender determination using the polymerase chain reaction (PCR) for single cells.
- Analyses of 95 first-trimester spontaneous abortions by chorionic villus sampling and karyotype.
- Preimplantation diagnosis for Fanconi anemia combined with HLA matching.
- The preimplantation genetic diagnosis of genetic diseases.
- Allele dropout in polar bodies and blastomeres.
- Expression of homebox-containing genes in human preimplantation development and in embryos with chromosomal aneuploidies.
- Detection of translocations involving the Y-chromosome in prospective prenatal screening of common chromosomal aneuploidies by FISH.
- Neonatal outcome of preimplantation genetic diagnosis by polar body removal: the first 109 infants.
- Birth of healthy children after preimplantation diagnosis of common aneuploidies by polar body fluorescent in situ hybridization analysis. Preimplantation Genetics Group.
- Chromosomal abnormalities in the first and second polar body.
- Preimplantation testing for phenylketonuria.
- Reliability of preimplantation diagnosis for single gene disorders.
- Accuracy of preimplantation diagnosis of single-gene disorders by polar body analysis of oocytes.
- Preimplantation genetics--two first steps.
- Analysis of the first polar body: preconception genetic diagnosis.
- Preembryonic diagnosis for sickle cell disease.
- Prepregnancy testing for single-gene disorders by polar body analysis.
- Crown-rump lengths in missed miscarriages and trisomy 21.
- Homeobox gene expression in human oocytes and preembryos.
- In defense of commercial laboratories.
- Prenatal paternity testing with deoxyribonucleic acid techniques.
- Eater, a transmembrane protein mediating phagocytosis of bacterial pathogens in Drosophila.
- Preimplantation diagnosis of thalassemias.
- Nonrandom association of a type II procollagen genotype with achondroplasia.
- Allele dropout in sequential PCR and FISH analysis of single cells (cell recycling).
- Reliability of polymerase chain reaction (PCR) analysis of single cells for preimplantation genetic diagnosis.
- The importance of β globin deletion analysis in the evaluation of patients with β thalassemia.
- Cross-hybridization of the chromosome 13/21 alpha satellite DNA probe to chromosome 22 in the prenatal screening of common chromosomal aneuploidies by FISH.
- Genetics update: infertility due to a point mutation.
- Preconception genetic diagnosis of cystic fibrosis.
- Double-blind, placebo-controlled crossover study of folinic acid (Leucovorin for the treatment of fragile X syndrome.
- Three births after preimplantation genetic diagnosis for cystic fibrosis with sequential first and second polar body analysis.
- CFTR 5T variant has a low penetrance in females that is partially attributable to its haplotype.
- Preconception and preimplantation diagnosis for cystic fibrosis.
- Genotype-phenotype correlation and frequency of the 3199del6 cystic fibrosis mutation among I148T carriers: results from a collaborative study.
- Detection of the factor V Leiden mutation by a modified photo-cross-linking oligonucleotide hybridization assay.
- Mutation detection, interpretation, and applications in the clinical laboratory setting.
- Extensive sequencing of the CFTR gene: lessons learned from the first 157 patient samples.
- Novel and recurrent rearrangements in the CFTR gene: clinical and laboratory implications for cystic fibrosis screening.
- Multiple property tolerance analysis for the evaluation of missense mutations.
- Prenatal diagnosis for primary congenital glaucoma (bupthalmous).
Schools
U Of Chgo Div Of Bio Sci Pritzker Sch Of Med
Doctors Specialties
- Clinical Biochemical Genetics
- Clinical Genetics
- Clinical Molecular Genetics
- Pediatrics
Accepted Insurances
Education
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University of California San Diego -
University of Chicago Pritzker School of Medicine
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