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LISA SCHIMMENTI, MD
MD
Clinical Genetics (M.D.) Physician
NPI: 1568544070IndividualAccepts Medicare
Specialties, Licenses & Credentials
Clinical Genetics (M.D.) PhysicianPrimary
Medical Genetics — Clinical Genetics (M.D.)
Code: 207SG0201X
35223(MN)ME142762(FL)
Otolaryngology Physician
Otolaryngology
Code: 207Y00000X
35223(MN)
Pediatrics Physician
Pediatrics
Code: 208000000X
35223(MN)
CMS Specialties
PrimaryMEDICAL GENETICS AND GENOMICS
Additional
PEDIATRIC MEDICINE
Education
OTHER
Class of 1986
Research & Publications (20)
Infant hearing loss and connexin testing in a diverse population.
PMID 18580690·Genet Med·2008
4-observational
Expanded newborn screening identifies maternal primary carnitine deficiency.
PMID 17126586·Mol Genet Metab·2007
8-other
Optic nerve dysplasia and renal insufficiency in a family with a novel PAX2 mutation, Arg115X: further ophthalmologic delineation of the renal-coloboma syndrome.
PMID 14566649·Ophthalmic Genet·2003
5-case
Novel mutation in sonic hedgehog in non-syndromic colobomatous microphthalmia.
PMID 12503095·Am J Med Genet A·2003
5-case
Parents' perceptions of autism spectrum disorder etiology and recurrence risk and effects of their perceptions on family planning: Recommendations for genetic counselors.
PMID 19488842·J Genet Couns·2009
8-other
A prospective, longitudinal study of the impact of GJB2/GJB6 genetic testing on the beliefs and attitudes of parents of deaf and hard-of-hearing infants.
PMID 19449415·Am J Med Genet A·2009
8-other
Familial recurrence of SOX2 anophthalmia syndrome: phenotypically normal mother with two affected daughters.
PMID 18831064·Am J Med Genet A·2008
5-case
Development and Notch signaling requirements of the zebrafish choroid plexus.
PMID 18769591·PLoS One·2008
7-preclinical
Severe methylenetetrahydrofolate reductase (MTHFR) deficiency: a case report of nonclassical homocystinuria.
PMID 18658082·J Child Neurol·2008
5-case
Identification of novel mutations and sequence variants in the SOX2 and CHX10 genes in patients with anophthalmia/microphthalmia.
PMID 18385794·Mol Vis·2008
8-other
Intrachromosomal duplications of 22q11 are not a common cause of isolated coloboma and coloboma with other limited features of cat eye syndrome.
PMID 18203172·Am J Med Genet A·2008
4-observational
Ethnic differences in parental perceptions of genetic testing for deaf infants.
PMID 17952575·J Genet Couns·2008
8-other
Recurrent 10q22-q23 deletions: a genomic disorder on 10q associated with cognitive and behavioral abnormalities.
PMID 17436248·Am J Hum Genet·2007
5-case
Sharing GJB2/GJB6 genetic test information with family members.
PMID 17318457·J Genet Couns·2007
8-other
Genome-wide reverse genetics framework to identify novel functions of the vertebrate secretome.
PMID 17218990·PLoS One·2006
7-preclinical
Cri du chat syndrome and congenital heart disease: a review of previously reported cases and presentation of an additional 21 cases from the Pediatric Cardiac Care Consortium.
PMID 16585274·Pediatrics·2006
8-other
Prelingual siblings of children with GJB2 hearing loss: issues to consider.
PMID 16301377·Arch Otolaryngol Head Neck Surg·2005
8-other
Duplication of the Down syndrome critical region does not predict facial phenotype in a baby with a ring chromosome 21.
PMID 16155419·Clin Dysmorphol·2005
5-case
Mutations in Cypher/ZASP in patients with dilated cardiomyopathy and left ventricular non-compaction.
PMID 14662268·J Am Coll Cardiol·2003
8-other
Data courtesy of the U.S. National Library of Medicine (NLM). Ltrl is not affiliated with or endorsed by NLM.
Contact & Hours
Via practice · 2 locations total
- Address
- 4500 SAN PABLO RD S
JACKSONVILLE, FL 32224 - Phone
- (904) 953-2000
Quick Facts
- NPI
- 1568544070
- Entity Type
- Individual
- Gender
- Female
- Medicare
- Accepted
- Specialties
- 4
- Locations
- 2
- Years in Practice
- 40
- Publications
- 20
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