List of works by Charles M Strom

A Multigene Test Could Cost-Effectively Help Extend Life Expectancy for Women at Risk of Hereditary Breast Cancer.

scientific article published on 23 February 2017

A Standardized DNA Variant Scoring System for Pathogenicity Assessments in Mendelian Disorders

scientific article published on 15 October 2015

A large deletion in the CFTR gene in CBAVD.

scientific article published in February 2006

Abnormal triple-test result plus normal ultrasonographic results equal amniocentesis?

scientific article published on 01 October 1996

Academic and commercial genetic testing laboratories: complementary if not complimentary

scientific article published on 01 November 2007

Accuracy of preimplantation diagnosis of single-gene disorders by polar body analysis of oocytes

scientific article

Allele dropout in polar bodies and blastomeres.

scientific article

Allele dropout in sequential PCR and FISH analysis of single cells (cell recycling).

scientific article published in February 1996

Analyses of 95 first-trimester spontaneous abortions by chorionic villus sampling and karyotype

scientific article published on 01 October 1992

Analysis of the first polar body: preconception genetic diagnosis

scientific article

Apparent homozygosity of a novel frame shift mutation in the CFTR gene because of a large deletion

scientific article published on 26 March 2009

BRCA Share: A Collection of Clinical BRCA Gene Variants

scientific article

Birth of a healthy girl after preimplantation gender determination using a combination of polymerase chain reaction and fluorescent in situ hybridization analysis. Preimplantation Genetics Group.

scientific article published in February 1996

Birth of healthy children after preimplantation diagnosis of common aneuploidies by polar body fluorescent in situ hybridization analysis. Preimplantation Genetics Group

scientific article published in July 1996

Birth of healthy children after preimplantation diagnosis of thalassemias.

scientific article

CFTR 5T variant has a low penetrance in females that is partially attributable to its haplotype

scientific article published in June 2006

Changing trends in laboratory testing in the United States: a personal, historical perspective

scientific article published on December 2012

Characterization of a complex chromosomal rearrangement using chromosome, FISH, and microarray assays in a girl with multiple congenital abnormalities and developmental delay

scientific article

Characterization of a recurrent novel large duplication in the cystic fibrosis transmembrane conductance regulator gene

scientific article

Chromosomal abnormalities in the first and second polar body.

scientific article

Clinical array comparative genomic hybridization: a new paradigm.

scientific article published in April 2008

Clinical experience and follow-up with large scale single-nucleotide polymorphism-based noninvasive prenatal aneuploidy testing

scientific article

Construction and sequence analysis of subtraction complementary DNA libraries from human preimplantation embryos

scholarly article

Cross-hybridization of the chromosome 13/21 alpha satellite DNA probe to chromosome 22 in the prenatal screening of common chromosomal aneuploidies by FISH.

scientific article published in September 1995

Crown-rump lengths in missed miscarriages and trisomy 21

scientific article published on 01 November 2001

Current challenges in cystic fibrosis screening

scientific article published on 01 March 2004

Current status of preimplantation diagnosis

scientific article

Cystic fibrosis population carrier screening: 2004 revision of American College of Medical Genetics mutation panel

scientific article published on September 2004

Cystic fibrosis screening using the College panel: platform comparison and lessons learned from the first 20,000 samples.

scientific article published in July 2002

Cystic fibrosis screening: lessons learned from the first 320,000 patients

scientific article published on 01 May 2004

Cystic fibrosis testing 8 years on: Lessons learned from carrier screening and sequencing analysis ⬇️

scientific article published on February 1, 2011

Decreasing risk of pregnancy loss following chorionic villus sampling. Elimination of transabdominal chorionic villus sampling during the ninth week of pregnancy

scientific article published on October 1, 1992

Designer babies - are they a reality yet? Case report: simultaneous preimplantation genetic diagnosis for Fanconi anaemia and HLA typing for cord blood transplantation

scientific article published on 01 January 2000

Detection of 677CT/1298AC "double variant" chromosomes: implications for interpretation of MTHFR genotyping results

scientific article

Detection of the factor V Leiden mutation by a modified photo-cross-linking oligonucleotide hybridization assay

scientific article

Detection of translocations involving the Y-chromosome in prospective prenatal screening of common chromosomal aneuploidies by FISH.

scientific article published in April 1998

Development and Validation of a Next-Generation Sequencing Assay for BRCA1 and BRCA2 Variants for the Clinical Laboratory

scientific article

Development and validation of a highly sensitive and specific electrochemical assay to quantify anti-SARS-CoV-2 IgG antibodies to facilitate pandemic surveillance and monitoring of vaccine response

scientific article published on 16 November 2020

Development of a novel, accurate, automated, rapid, high-throughput technique suitable for population-based carrier screening for Fragile X syndrome.

scientific article published in April 2007

Development of a web-based query tool for quality assurance of clinical molecular genetic test results

scientific article published on February 2007

Direct visualization of cystic fibrosis transmembrane regulator mutations in the clinical laboratory setting

scientific article published on 9 March 2004

Discordant noninvasive prenatal testing and cytogenetic results: a study of 109 consecutive cases.

scientific article

Electric Field Induced Release and Measurement (EFIRM): Characterization and Technical Validation of a Novel Liquid Biopsy Platform in Plasma and Saliva

scientific article published on 01 June 2020

Electric Field-Induced Release and Measurement Liquid Biopsy for Noninvasive Early Lung Cancer Assessment

scientific article published on 08 October 2018

Expression of homebox-containing genes in human preimplantation development and in embryos with chromosomal aneuploidies

scientific article

Extensive sequencing of the CFTR gene: lessons learned from the first 157 patient samples

scientific article published on 28 September 2005

Extensive sequencing of the cystic fibrosis transmembrane regulator gene: assay validation and unexpected benefits of developing a comprehensive test

scientific article published in January 2003

FMR1 premutation carrier frequency in patients undergoing routine population-based carrier screening: insights into the prevalence of fragile X syndrome, fragile X-associated tremor/ataxia syndrome, and fragile X-associated primary ovarian insuffici ⬇️

scientific article published on January 1, 2011

Frequency and Complexity of De Novo Structural Mutation in Autism

scientific article

Frequency of the cystic fibrosis 3199del6 mutation in individuals heterozygous for I148T

scientific article published on 01 March 2004

From peapods to laboratory medicine: molecular diagnostics of inheritable diseases.

scientific article published in July 2003

Genetically characterized positive control cell lines derived from residual clinical blood samples

scientific article published on 15 September 2005

High-throughput gene sequencing assay development for hereditary nonpolyposis colon cancer.

scientific article published in November 2004

Homeobox gene expression in human oocytes and preembryos

scientific article

Identification and clinical evaluation of segments of homozygosity, uniparental disomy and complex chromosomal abnormalities revealed by copy-number SNP arrays.

scientific article

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 analysis

scientific article published in February 2010

Improving the Accuracy of Prenatal Screening with DNA Copy-Number Analysis

scientific article published on 01 January 2017

Improving the Positive Predictive Value of Non-Invasive Prenatal Screening (NIPS)

scientific article

Inherited and de novo 22q11.2 distal duplications in two patients with autistic features, speech delay and no dysmorphology

scientific article

Invasive trophoblast antigen (hyperglycosylated human chorionic gonadotropin) in second-trimester maternal urine as a marker for down syndrome: preliminary results of an observational study on fresh samples

scientific article published in January 2004

Isolation of cDNA libraries from individual human preimplantation embryos

scientific article

Management of a triplet gestation complicated by uterus didelphys

scientific article published on 01 January 1997

Maternal chromosome Xp deletion identified by prenatal cell-free DNA screening

scientific article

Measurement of cetuximab and panitumumab-unbound serum EGFR extracellular domain using an assay based on slow off-rate modified aptamer (SOMAmer) reagents

scientific article (publication date: 2013)

Molecular combing compared to Southern blot for measuring D4Z4 contractions in FSHD.

scientific article

Molecular screening for diseases frequent in Ashkenazi Jews: lessons learned from more than 100,000 tests performed in a commercial laboratory

scientific article published on 01 May 2004

Molecular testing for Fragile X Syndrome: lessons learned from 119,232 tests performed in a clinical laboratory.

scientific article published in January 2007

Multiple property tolerance analysis for the evaluation of missense mutations

scientific article published on January 2006

Mutation detection, interpretation, and applications in the clinical laboratory setting

scientific article

Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes

scientific article

Neonatal outcome of preimplantation genetic diagnosis by polar body removal: the first 109 infants.

scientific article

Novel and recurrent rearrangements in the CFTR gene: clinical and laboratory implications for cystic fibrosis screening.

scientific article published on 17 December 2005

Obstetric outcomes in 102 pregnancies after preimplantation genetic diagnosis

scientific article published on 01 June 2000

PGDIS Position Statement on the Transfer of Mosaic Embryos 2019

scientific article published on 01 August 2019

Polar body diagnosis of common aneuploidies by FISH.

scientific article published in February 1996

Polar body-based preimplantation diagnosis for X-linked disorders.

scientific article published in January 2002

Population-based carrier screening and prenatal diagnosis.

scientific article published in August 2004

Preconception and preimplantation diagnosis for cystic fibrosis

scientific article published on February 1, 1992

Preconception genetic diagnosis of cystic fibrosis

scientific article

Preembryonic diagnosis for sickle cell disease.

scientific article

Preimplantation diagnosis for Fanconi anemia combined with HLA matching

scientific article (publication date: 27 June 2001)

Preimplantation diagnosis for long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency.

scientific article published in January 2001

Preimplantation diagnosis for ornithine transcarbamylase deficiency.

scientific article published in January 2000

Preimplantation diagnosis for p53 tumour suppressor gene mutations

scientific article published in January 2001

Preimplantation diagnosis of autosomal dominant retinitis pigmentosum using two simultaneous single cell assays for a point mutation in the rhodopsin gene.

scientific article published in April 1998

Preimplantation diagnosis of common aneuploidies by the first- and second-polar body FISH analysis

scientific article

Preimplantation diagnosis of single gene disorders by two-step oocyte genetic analysis using first and second polar body

scientific article

Preimplantation diagnosis of thalassemias

scientific article

Preimplantation testing for phenylketonuria.

scientific article published in August 2001

Prenatal diagnosis for primary congenital glaucoma (bupthalmous)

scientific article published on 01 September 2006

Prenatal diagnosis of 46,XX male fetuses

scientific article published on 01 April 1999

Prenatal diagnosis of body stalk anomaly in the first trimester of pregnancy

scientific article published on 01 December 1997

Prenatal paternity testing with deoxyribonucleic acid techniques.

scientific article published in June 1996

Prepregnancy genetic testing for age-related aneuploidies by polar body analysis

scientific article

Prepregnancy testing for single-gene disorders by polar body analysis.

scientific article published in January 1999

Prevalence of known mutations in the familial Mediterranean fever gene (MEFV) in various carrier screening populations

scientific article

Prevention of age-related aneuploidies by polar body testing of oocytes.

scientific article

Qualitative assessment of FMR1 (CGG)n triplet repeat status in normal, intermediate, premutation, full mutation, and mosaic carriers in both sexes: implications for fragile X syndrome carrier and newborn screening.

scientific article

Rapid one-step carrier detection assay of mucolipidosis IV mutations in the Ashkenazi Jewish population

scientific article published on May 2006

Regions of homozygosity identified by oligonucleotide SNP arrays: evaluating the incidence and clinical utility

scientific article

Reliability of gender determination using the polymerase chain reaction (PCR) for single cells

scientific article published in August 1991

Reliability of polymerase chain reaction (PCR) analysis of single cells for preimplantation genetic diagnosis

scientific article published on 01 February 1994

Reliability of preimplantation diagnosis for single gene disorders

scientific article

Sequence analysis of libraries from individual human blastocysts

scientific article

Sequence variations in AGTR2 are unlikely to be associated with X-linked mental retardation.

scientific article published in December 2005

Sex difference in crown-rump length in first-trimester twins.

scientific article published in November 1997

Short stature, digit anomalies and dysmorphic facial features are associated with the duplication of miR-17 ~ 92 cluster

scientific article published on 16 April 2014

Spectral Karyotyping for identification of constitutional chromosomal abnormalities at a national reference laboratory

scientific article published on 16 January 2012

Submicroscopic deletion of 5q involving tumor suppressor genes (CTNNA1, HSPA9) and copy neutral loss of heterozygosity associated with TET2 and EZH2 mutations in a case of MDS with normal chromosome and FISH results

scientific article

Technical validation of a TM Biosciences Luminex-based multiplex assay for detecting the American College of Medical Genetics recommended cystic fibrosis mutation panel

scientific article published on July 2006

Technical validation of a multiplex platform to detect thirty mutations in eight genetic diseases prevalent in individuals of Ashkenazi Jewish descent

scientific article

Term birth after midtrimester hysterotomy and selective delivery of an acardiac twin

scientific article published on July 1, 1992

Testing for variants in CYP2C19: population frequencies and testing experience in a clinical laboratory

scientific article

The dangers of including nonclassical cystic fibrosis variants in population-based screening panels: p.L997F, further genotype/phenotype correlation data

scientific article

The preimplantation genetic diagnosis of genetic diseases

scientific article published on February 1990

The sensitivity and specificity of hyperglycosylated hCG (hhCG) levels to reliably diagnose clinical IVF pregnancies at 6 days following embryo transfer

scientific article

Three births after preimplantation genetic diagnosis for cystic fibrosis with sequential first and second polar body analysis.

scientific article published in June 1998

Transabdominal embryoscopy for the detection of Carpenter syndrome during the first trimester

scientific article published on 01 August 1994

Use of nested PCR to identify charred human remains and minute amounts of blood.

scientific article published in May 1998

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