Physician

Medical Genetics

Jacob A. Reiss, MD is an expert in the field of Medical Genetics. He researched medicine at State University of New York Upstate Medical University. Jacob Reiss is a published doctor and has 44 publications published. The lastest was: 'Genomic structure and mutational spectrum of the bicistronic MOCS1 gene defective in molybdenum cofactor deficiency type A.'

Publications

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• Patients' ratings of genetic conditions validate a taxonomy to simplify decisions about preconception carrier screening via genome sequencing.
• Stakeholder perspectives on implementing a universal Lynch syndrome screening program: a qualitative study of early barriers and facilitators.
• "Is It Worth Knowing?" Focus Group Participants' Perceived Utility of Genomic Preconception Carrier Screening.
• Heritability of serum iron measures in the hemochromatosis and iron overload screening (HEIRS) family study.
• Serum ferritin concentrations and body iron stores in a multicenter, multiethnic primary-care population.
• Accuracy of family history of hemochromatosis or iron overload: the hemochromatosis and iron overload screening study.
• Genetic screening for iron overload: No evidence of discrimination at 1 year.
• Predictors of belief that genetic test information about hemochromatosis should be shared with family members.
• Concerns in a primary care population about genetic discrimination by insurers.
• A mutation in the gene for the neurotransmitter receptor-clustering protein gephyrin causes a novel form of molybdenum cofactor deficiency.
• A cystic fibrosis patient homozygous for the nonsense mutation R553X.
• Genetic association of a cystatin C gene polymorphism with late-onset Alzheimer disease.
• [Principles of DNA diagnosis exemplified by cystic fibrosis].
• Rapid detection of deletions in the Duchenne muscular dystrophy gene by PCR amplification of deletion-prone exon sequences.
• Frequency of the F508 deletion in the CFTR gene in Turkish cystic fibrosis patients.
• Application of the polymerase chain reaction to the diagnosis of human genetic disease.
• Detection of a novel point mutation causing haemophilia A by PCR/direct sequencing of ectopically-transcribed factor VIII mRNA.
• Frequency of the cystic fibrosis mutation delta F508 in Poland.
• Detection of human spermatid-specific transcripts in peripheral blood lymphocytes of males and females.
• Ornithine transcarbamylase (OTC) deficiency in a female patient with a de nova deletion of the paternal X chromosome.
• Molecular genetic analysis of 67 patients with Duchenne/Becker muscular dystrophy.
• The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: causes and consequences.
• Incidence and expression of the N1303K mutation of the cystic fibrosis (CFTR) gene.
• Omission of exon 12 in cystic fibrosis transmembrane conductance regulator (CFTR) gene transcripts.
• Microlesions and polymorphisms in the Duchenne/Becker muscular dystrophy gene.
• Genetics of molybdenum cofactor deficiency.
• Skipping of multiple CFTR exons is not a result of single exon omissions.
• Interstitial deletion of (17)(p11.2p11.2) in nine patients.
• Interstitial deletions of the short arm of chromosome 4 in patients with a similar combination of multiple minor anomalies and mental retardation.
• The 8p- syndrome.
• CFTR transcripts are undetectable in lymphocytes and respiratory epithelial cells of a CF patient homozygous for the nonsense mutation R553X.
• Single-strand conformation polymorphism (SSCP) analysis of exon 11 of the CFTR gene reliably detects more than one third of non-delta F508 mutations in German cystic f...
• Discrimination between recurrent mutation and identity by descent: application to point mutations in exon 11 of the cystic fibrosis (CFTR) gene.
• A novel CFTR mutation, 4035delA, detected by non-radioactive SSCP analysis.
• Genomic structure and mutational spectrum of the bicistronic MOCS1 gene defective in molybdenum cofactor deficiency type A.
• Two cystic fibrosis patients with the genotype G542X/G551D.
• Combined retinal hamartomas leading to the diagnosis of neurofibromatosis type 2.
• Screening for hemochromatosis and iron overload: satisfaction with results notification and understanding of mailed results in unaffected participants of the HEIRS study.
• Results communication and patient education after screening for possible hemochromatosis and iron overload: experience from the HEIRS Study of a large ethnically and l...
• Characteristics of participants with self-reported hemochromatosis or iron overload at HEIRS study initial screening.
• HFE C282Y homozygotes aged 25-29 years at HEIRS Study initial screening.
• Health-related quality of life in a racially diverse population screened for hemochromatosis: results from the Hemochromatosis and Iron Overload Screening (HEIRS) study.
• Deletion of an enhancer near DLX5 and DLX6 in a family with hearing loss, craniofacial defects, and an inv(7)(q21.3q35).

Schools

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• Upstate Medical University College of Health Professions

• Oh State University Hospital

• Or Health Science University Hospital

Doctors Specialties

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• Clinical Cytogenetics
• Clinical Genetics
• Pediatrics
• Medical Genetics

Accepted Insurances

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• Aetna
• Medicare Advantage PFFS
• Kaiser Permanente
• Medicaid
• Medicare MCR
• Providence Health Plans
• United Healthcare

Education

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• Ohio State University Hospital
• State University of New York Upstate Medical University

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