Associate Professor of Pediatrics, University Hawaii JA Burns School of Medicine
Medical Genetics
Dr. Laurie H. Seaver, MD
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Laurie H. Seaver, MD is an expert in the field of Medical Genetics. He graduated from University of Arizona College of Medicine - Tucson. University of Arizona College of Medicine - Tucson is ranked 67 in research and 42 in primary care medicine He received awards:"America's Top Doctors". Doctor Laurie H. Seaver, MD is also published. He has 38 publications published. The lastest publication: "Isolated hemihyperplasia (hemihypertrophy): report of a prospective multicenter study of the incidence of neoplasia and review.'
Publications
- Long QT syndrome with craniofacial, digital, and neurologic features: Is it useful to distinguish between timothy syndrome types 1 and 2?
- Increased body mass in infancy and early toddlerhood in Angelman syndrome patients with uniparental disomy and imprinting center defects.
- Perinatal features of the RASopathies: Noonan syndrome, Cardiofaciocutaneous syndrome and Costello syndrome.
- The perinatal presentation of cardiofaciocutaneous syndrome.
- Mutations in PIEZO2 Cause Gordon Syndrome, Marden-Walker Syndrome, and Distal Arthrogryposis Type 5.
- Clinical Presentation and Positive Outcome of Two Siblings with Holocarboxylase Synthetase Deficiency Caused by a Homozygous L216R Mutation.
- NF1 microduplications: identification of seven nonrelated individuals provides further characterization of the phenotype.
- Inverted genomic segments and complex triplication rearrangements are mediated by inverted repeats in the human genome.
- Limb-body wall defect. Is there a defensible hypothesis and can it explain all the associated anomalies?
- A Novel Mutation in the HSD17B10 Gene of a 10-Year-Old Boy with Refractory Epilepsy, Choreoathetosis and Learning Disability.
- A neonatal death due to medium-chain acyl-CoA dehydrogenase deficiency: utilization of the neonatal metabolic screen in a functional approach to sudden unexplained inf...
- Noncirrhotic portal hypertension in a child with velocardiofacial syndrome.
- Indications for genetic referral: a guide for healthcare providers.
- Birth defects research: improving surveillance methods and addressing epidemiologic questions and public health issues.
- Neural tube defects and associated anomalies in South Carolina.
- Adverse environmental exposures in pregnancy: teratology in adolescent medicine practice.
- Anatomical evaluation of the caudal regression syndrome (lumbosacral agenesis) with magnetic resonance imaging.
- Mutation and evolutionary analyses identify NR2E1-candidate-regulatory mutations in humans with severe cortical malformations.
- Mutations in the human laminin beta2 (LAMB2) gene and the associated phenotypic spectrum.
- Evaluation of a mutation screening strategy for sporadic cases of ATR-X syndrome.
- Toriello-Carey syndrome: delineation and review.
- Isolated hemihyperplasia (hemihypertrophy): report of a prospective multicenter study of the incidence of neoplasia and review.
- Congenital lymphocytic choriomeningitis virus infection.
- Congenital scalp defects and vitreoretinal degeneration: redefining the Knobloch syndrome.
- Female pseudohermaphroditism with multiple caudal anomalies: absence of Y-specific DNA sequences as pathogenetic factors.
- Pulmonary atresia associated with maternal 22q11.2 deletion: possible parent of origin effect in the conotruncal anomaly face syndrome.
- Fatal cardiomyopathy associated with 3-hydroxy-3-methylglutaryl-CoA lyase deficiency.
- A family with unusual Waardenburg syndrome type I (WSI), cleft lip (palate), and Hirschsprung disease is not linked to PAX 3.
- Toluene embryopathy: delineation of the phenotype and comparison with fetal alcohol syndrome.
- Nine novel mutations in NR0B1 (DAX1) causing adrenal hypoplasia congenita.
- Mutations in FOXC2 (MFH-1), a forkhead family transcription factor, are responsible for the hereditary lymphedema-distichiasis syndrome.
- Decline in prevalence of neural tube defects in a high-risk region of the United States.
- Spondylocarpotarsal synostosis syndrome and cervical instability.
- New syndrome: mother and son with hypertelorism, downslanting palpebral fissures, malar hypoplasia, and apparently low-set ears associated with joint and scrotal anoma...
- Teratology in pediatric practice.
- ACMG practice guideline: genetic evaluation of short stature.
- Microcephaly and congenital grouped pigmentation of the retinal pigment epithelium associated with submicroscopic deletions of 13q33.3-q34 and 11p15.4.
Schools
University of Arizona
Doctors Specialties
- Clinical Genetics
- Pediatrics
- Medical Genetics
Accepted Insurances
- Choice Plus POS II
- Blue Card PPO
- Commercial Insurance Company
- First Health (Coventry Health Care) PPO
- Preferred Provider/Comp Med
- Medicare MCR
- Choice Plus POS
- Navigate POS
- Options PPO
- United Healthcare
Awards
- America's Top Doctors
Education
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University of Arizona -
University of Arizona College of Medicine - Tucson
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