Professor, Pediatrics, University of Wisconsin School of Medicine and Public Health
Medical Genetics
Dr. Philip F. Giampietro, MD
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Philip Giampietro works in the field of Medical Genetics. He graduated from Stony Brook University School of Medicine. He over the years received 1 awards: "Regional Top Doctor". Philip Giampietro is a published doctor as well. He has 65 publications published. The latest was: New recessive syndrome characterized by increased chromosomal breakage and several findings which overlap with Fanconi anemia.
Publications
- Marfan syndrome patient experiences as ascertained through postings on social media sites.
- Whole exome sequencing identifies a POLRID mutation segregating in a father and two daughters with findings of Klippel-Feil and Treacher Collins syndromes.
- TBX6 null variants and a common hypomorphic allele in congenital scoliosis.
- CORR Insights(®): Are Copy Number Variants Associated With Adolescent Idiopathic Scoliosis?
- Heterozygous mutations in the T (brachyury) gene.
- MECP2 duplication: Possible cause of severe phenotype in females.
- Novel Mutation in TP63 Associated With Ectrodactyly Ectodermal Dysplasia and Clefting Syndrome and T Cell Lymphopenia.
- Analysis of maternal risk factors associated with congenital vertebral malformations.
- Clinical, genetic and environmental factors associated with congenital vertebral malformations.
- Extreme values of maternal serum analytes in second trimester screening: looking beyond trisomy and NTD''s.
- A pilot study of gene/gene and gene/environment interactions in Alzheimer disease.
- Pilot assessment of a radiologic classification system for segmentation defects of the vertebrae.
- The role of cigarette smoking and statins in the development of postmenopausal osteoporosis: a pilot study utilizing the Marshfield Clinic Personalized Medicine Cohort.
- A novel locus for adolescent idiopathic scoliosis on chromosome 12p.
- Incomplete penetrance and phenotypic variability characterize Gdf6-attributable oculo-skeletal phenotypes.
- Ovarian failure and dilated cardiomyopathy due to a novel lamin mutation.
- Progress in the understanding of the genetic etiology of vertebral segmentation disorders in humans.
- Community consultation and communication for a population-based DNA biobank: the Marshfield clinic personalized medicine research project.
- A missense T (Brachyury) mutation contributes to vertebral malformations.
- Clinical genetics provider real-time workflow study.
- Bile duct anomalies in a male child with Noonan syndrome: a case for ras and notch pathway synergism.
- Lack of evidence of WNT3A as a candidate gene for congenital vertebral malformations.
- A novel microdeletion at 16p11.2 harbors candidate genes for aortic valve development, seizure disorder, and mild mental retardation.
- Abnormal vertebral segmentation and the notch signaling pathway in man.
- Bone mineral density determinations by dual-energy x-ray absorptiometry in the management of patients with Marfan syndrome--some factors which affect the measurement.
- Informed consent and subject motivation to participate in a large, population-based genomics study: the Marshfield Clinic Personalized Medicine Research Project.
- Recurrent infections, hypotonia, and mental retardation caused by duplication of MECP2 and adjacent region in Xq28.
- DLL3 as a candidate gene for vertebral malformations.
- Acute health events in adult patients with genetic disorders: the Marshfield Epidemiologic Study Area.
- Evaluation of SLC35A3 as a candidate gene for human vertebral malformations.
- Widened clinical spectrum of the Q128P MECP2 mutation in Rett syndrome.
- Novel clinical features in a child with partial deletion of chromosome 11 del(11)(q24.2): further evidence for phenotypic heterogeneity.
- Robinow syndrome with variable neurologic features.
- An analysis of PAX1 in the development of vertebral malformations.
- Mutations in transforming growth factor-beta receptor type II cause familial thoracic aortic aneurysms and dissections.
- Subtelomeric deletions of chromosome 9q: a novel microdeletion syndrome.
- New syndrome: focal dermal hypoplasia, morning glory anomaly, and polymicrogyria.
- Human papillomavirus DNA and p53 polymorphisms in squamous cell carcinomas from Fanconi anemia patients.
- Can genomic medicine be applied to the management of essential hypertension?
- Assessment of bone mineral density in adults and children with Marfan syndrome.
- Congenital and idiopathic scoliosis: clinical and genetic aspects.
- A 20-year perspective on the International Fanconi Anemia Registry (IFAR).
- Spectrum of sequence variation in the FANCG gene: an International Fanconi Anemia Registry (IFAR) study.
- High incidence of head and neck squamous cell carcinoma in patients with Fanconi anemia.
- Caudal regression syndrome versus sirenomelia: a case report.
- Marfan syndrome: orthopedic and genetic review.
- Fetal thoracic measurements in prenatal diagnosis of Jeune syndrome.
- Prevalence and patterns of presentation of genetic disorders in a pediatric emergency department.
- Evaluation of growth and hormonal status in patients referred to the International Fanconi Anemia Registry.
- The incidence of protrusio acetabuli in Marfan's syndrome and its relationship to bone mineral density.
- A genomic approach to scoliosis pathogenesis.
- Synteny-defined candidate genes for congenital and idiopathic scoliosis.
- New recessive syndrome characterized by increased chromosomal breakage and several findings which overlap with Fanconi anemia.
- Phenotypic consequences of mutations in the Fanconi anemia FAC gene: an International Fanconi Anemia Registry study.
- Diagnosis of Fanconi anemia in patients without congenital malformations: an international Fanconi Anemia Registry Study.
- Fragile X syndrome in two siblings with major congenital malformations.
- Congenital fusion of the fourth and fifth metacarpals associated with primary gonadal failure.
- Nature and recurrence of AVPR2 mutations in X-linked nephrogenic diabetes insipidus.
- Fanconi's anemia.
- The need for more accurate and timely diagnosis in Fanconi anemia: a report from the International Fanconi Anemia Registry.
- Fanconi anemia: a model for genetic causes of abnormal brain development.
- Determination of delta-aminolevulinate dehydratase activity by a specific fluorometric coupled-enzyme assay.
- Rapid loss of delta-aminolevulinic acid dehydratase activity in primary cultures of adult rat hepatocytes: a new model of zinc deficiency.
- Regional gene assignment of human porphobilinogen deaminase and esterase A4 to chromosome 11q23 leads to 11qter.
Schools
State University of New York Health Science Center At Stony Brook
Long Island Jewish Med Center
University Hospital SUNY Stony Brook
Doctors Specialties
- Clinical Genetics
- Pediatrics
- Medical Genetics
Accepted Insurances
Awards
- Regional Top Doctor
Education
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North Shore-Long Island Jewish Health System -
SUNY Stony Brook University Hospital & Medical Center -
Stony Brook University School of Medicine
Hospital
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Meriter UnityPoint Health -
University of Wisconsin Hospital and Clinics
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