Professor of Clinical Genetics, University Okla College of Medicine
Medical Genetics
Dr. John J. Mulvihill, MD
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John Mulvihill practices Medical Genetics. He graduated from University of Washington School of Medicine. He received awards:"Fellow (FAAP)". John J. Mulvihill, MD is a published doctor as well. He has 55 publications published. The latest was: Trisomy 8: a common finding in mouse embryonic stem (ES) cell lines.
Publications
- A clinical evaluation tool for SNP arrays, especially for autosomal recessive conditions in offspring of consanguineous parents.
- Trisomy 8: a common finding in mouse embryonic stem (ES) cell lines.
- Genome-Wide Association Study Identifies a Novel Locus Contributing to Type 2 Diabetes Susceptibility in Sikhs of Punjabi Origin From India.
- A low frequency variant within the GWAS locus of MTNR1B affects fasting glucose concentrations: Genetic risk is modulated by obesity.
- RBPJ Mutations Identified in Two Families Affected by Adams-Oliver Syndrome.
- Cancer chemotherapeutic agents as human teratogens.
- Preconception exposure to mutagens: medical and other exposures to radiation and chemicals.
- Congenital Anomalies in the Children of Cancer Survivors: A Report From the Childhood Cancer Survivor Study.
- Genetic Disease in the Children of Danish Survivors of Childhood and Adolescent Cancer.
- Reversed clinical phenotype due to a microduplication of Sotos syndrome region detected by array CGH: Microcephaly, developmental delay and delayed bone age.
- Hospitalizations among children of survivors of childhood and adolescent cancer: a population-based cohort study.
- Automated identification of abnormal metaphase chromosome cells for the detection of chronic myeloid leukemia using microscopic images.
- Automated analysis of fluorescent in situ hybridization (FISH) labeled genetic biomarkers in assisting cervical cancer diagnosis.
- PPARG and ADIPOQ gene polymorphisms increase type 2 diabetes mellitus risk in Asian Indian Sikhs: Pro12Ala still remains as the strongest predictor.
- Risk of cancer among children of cancer patients - a nationwide study in Finland.
- Replication of association between a common variant near melanocortin-4 receptor gene and obesity-related traits in Asian Sikhs.
- National Institutes of Health State-of-the-Science Conference Statement: Family History and Improving Health.
- National Institutes of Health State-of-the-Science Conference Statement: Family History and Improving Health: August 24-26, 2009.
- Quality assurance in medical and public health genetics services: a systematic review.
- Evaluating the utility of personal genomic information.
- Prenatal identification of a novel R937P L1CAM missense mutation.
- Tonic-clonic seizures in a fetus with Pena-Shokeir syndrome.
- Low adherence to national guidelines for thyroid screening in Down syndrome.
- Ovarian failure and reproductive outcomes after childhood cancer treatment: results from the Childhood Cancer Survivor Study.
- The Childhood Cancer Survivor Study: a National Cancer Institute-supported resource for outcome and intervention research.
- Automated detection and analysis of fluorescent in situ hybridization spots depicted in digital microscopic images of Pap-smear specimens.
- Automated classification of metaphase chromosomes: optimization of an adaptive computerized scheme.
- Deletion of 14q24.1 approximately q24.3 in a patient with acute lymphoblastic leukemia: a hidden chromosomal anomaly detected by array-based comparative genomic hybrid...
- De novo three-way chromosome translocation 46,XY,t(4;6;21)(p16;p21.1;q21) in a male with cleidocranial dysplasia.
- A novel subtelomeric translocation t(5;9) and a deletion of the RB1 gene in a patient with acute myeloid leukemia (AML-M0).
- Assessing human germ-cell mutagenesis in the Postgenome Era: a celebration of the legacy of William Lawson (Bill) Russell.
- Deficiency of cartilage-associated protein in recessive lethal osteogenesis imperfecta.
- Investments in cancer genomics: who benefits and who decides.
- Cryptic and complex chromosomal rearrangements and the deletion of TP53 gene in a patient with leukemic mantle cell lymphoma.
- A computer-aided method to expedite the evaluation of prognosis for childhood acute lymphoblastic leukemia.
- Trisomy 1q in a patient with severe aplastic anemia.
- Perform a gene test on every patient: the medical family history revisited.
- Ring chromosome 9 [r(9)(p24q34)]: a report of two cases.
- Ring chromosome 4 in a patient with early onset type 2 diabetes, deafness, and developmental delay.
- Cytogenetic and molecular cytogenetic studies of a variant of t(21;22), ins(22;21)(q12;q21q22), with a deletion of the 3' EWSR1 gene in a patient with Ewing sarcoma.
- A variant t(8;10;21) in a patient with pathological features mimicking atypical chronic myeloid leukemia.
- Chromosome 2q terminal deletion: report of 6 new patients and review of phenotype-breakpoint correlations in 66 individuals.
- Chromosomal abnormalities among offspring of childhood-cancer survivors in Denmark: a population-based study.
- Leiomyosarcoma of the breast: a pathologic and comparative genomic hybridization study of two cases.
- Double trisomy.
- Expanding metabolic screening of newborns: can the health care industry do better than public health?
- Genetic effects of radiotherapy for childhood cancer.
- Celebrating the structure of DNA: 50 years and beyond.
- Identification of t(15;17) and a segmental duplication of chromosome 11q23 in a patient with acute myeloblastic leukemia M2.
- Duplication 15q as the sole anomaly in an acute promyelocytic leukemia patient without t(15;17).
- Medium chain acyl coenzyme A dehydrogenase (MCAD) deficiency: the case for screening all newborns.
- Study design and cohort characteristics of the Childhood Cancer Survivor Study: a multi-institutional collaborative project.
- Rapid prenatal diagnosis of trisomies 13, 18, 21 and sex chromosome anomalies by fluorescence in situ hybridization: a year's experience.
- Duplication 15q in a patient with t(8;21) acute myeloblastic leukemia (M2).
Schools
University of Washington
Johns Hopkins Hospital
University Wa Med Center
Doctors Specialties
- Clinical Genetics
- Pediatrics
- Medical Genetics
Accepted Insurances
Awards
- Fellow (FAAP)
Education
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Johns Hopkins University -
University of Washington -
University of Washington School of Medicine
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