Associate Professor, Pediatrics, University of Minnesota Medical School
Medical Genetics
Dr. Lisa A. Schimmenti, MD
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Lisa Schimmenti practices Medical Genetics. She graduated from Albert Einstein College of Medicine of Yeshiva University. Lisa Schimmenti has written publications. She has 63 publications published with PubMed. The lastest paper is: 'Further delineation of renal-coloboma syndrome in patients with extreme variability of phenotype and identical PAX2 mutations.'
Publications
- Outcomes of four patients with homocysteine remethylation disorders detected by newborn screening.
- Bosma arhina microphthalmia syndrome: Clinical report and review of the literature.
- Mosaic partial deletion of PTPN12 in a child with interrupted aortic arch type A.
- Nonhatching Decapsulated Artemia Cysts As a Replacement to Artemia Nauplii in Juvenile and Adult Zebrafish Culture.
- The unique association of iris heterochromia with Hermansky Pudlak syndrome.
- Detection of PAX2 Deletions and Duplications Using Multiplex Ligation-Dependent Probe Amplification.
- The unique association of iris heterochromia with Hermansky-Pudlak syndrome.
- Hermansky-Pudlak syndrome (HPS5) in a nonagenarian.
- Axenfeld-Rieger syndrome: new perspectives.
- Update of PAX2 mutations in renal coloboma syndrome and establishment of a locus-specific database.
- Evaluation of newborn screening bloodspot-based genetic testing as second tier screen for bedside newborn hearing screening.
- Renal coloboma syndrome.
- Array comparative genomic hybridization analysis in patients with anophthalmia, microphthalmia, and coloboma.
- Ellis-van Creveld Syndrome and Congenital Heart Defects: Presentation of an Additional 32 Cases.
- Clinical utility gene card for: renal coloboma (Papillorenal) syndrome.
- A novel microdeletion/microduplication syndrome of 19p13.13.
- Next generation sequencing in research and diagnostics of ocular birth defects.
- TLR9 polymorphisms are associated with altered IFN-gamma levels in children with cerebral malaria.
- WNT5A mutations in patients with autosomal dominant Robinow syndrome.
- Detection of cytomegalovirus DNA in dried blood spots of Minnesota infants who do not pass newborn hearing screening.
- 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.
- A primer for morpholino use in zebrafish.
- Familial recurrence of SOX2 anophthalmia syndrome: phenotypically normal mother with two affected daughters.
- Infant hearing loss and connexin testing in a diverse population.
- Severe methylenetetrahydrofolate reductase (MTHFR) deficiency: a case report of nonclassical homocystinuria.
- Ethnic differences in parental perceptions of genetic testing for deaf infants.
- Identification of novel mutations and sequence variants in the SOX2 and CHX10 genes in patients with anophthalmia/microphthalmia.
- Development and Notch signaling requirements of the zebrafish choroid plexus.
- Recurrent 10q22-q23 deletions: a genomic disorder on 10q associated with cognitive and behavioral abnormalities.
- Expanded newborn screening identifies maternal primary carnitine deficiency.
- Genome-wide reverse genetics framework to identify novel functions of the vertebrate secretome.
- Prelingual siblings of children with GJB2 hearing loss: issues to consider.
- Genetic testing as part of the early hearing detection and intervention (EHDI) process.
- Attitudes of the broader hearing, deaf, and hard-of-hearing community toward genetic testing for deafness.
- Novel mutation in sonic hedgehog in non-syndromic colobomatous microphthalmia.
- Exclusion of PITX2 mutations as a major cause of CHARGE association.
- Two-tier approach to the newborn screening of methylenetetrahydrofolate reductase deficiency and other remethylation disorders with tandem mass spectrometry.
- Parents' perceptions of autism spectrum disorder etiology and recurrence risk and effects of their perceptions on family planning: Recommendations for genetic counselors.
- 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 Con...
- Sharing GJB2/GJB6 genetic test information with family members.
- Intrachromosomal duplications of 22q11 are not a common cause of isolated coloboma and coloboma with other limited features of cat eye syndrome.
- Typical facial clefting and constriction band anomalies: an unusual association in three unrelated patients.
- Mutations in Cypher/ZASP in patients with dilated cardiomyopathy and left ventricular non-compaction.
- Renal-coloboma syndrome: report of a novel PAX2 gene mutation.
- Identification of two novel polymorphisms (g.903C>T and g.1544C>T) in the PAX2 gene.
- Identification of two single nucleotide polymorphisms in exon 8 of PAX2.
- Homonucleotide expansion and contraction mutations of PAX2 and inclusion of Chiari 1 malformation as part of renal-coloboma syndrome.
- Renal-coloboma syndrome: a multi-system developmental disorder caused by PAX2 mutations.
- Further delineation of renal-coloboma syndrome in patients with extreme variability of phenotype and identical PAX2 mutations.
- Mutation of the gene in a family with optic nerve colobomas, renal anomolies and vesicoureteral reflux.
- Autosomal dominant optic nerve colobomas, vesicoureteral reflux, and renal anomalies.
- A new mtDNA mutation in the tRNA(Leu(UUR)) gene associated with maternally inherited cardiomyopathy.
- A translocated erythropoietin receptor gene in a human erythroleukemia cell line (TF-1) expresses an abnormal transcript and a truncated protein.
- Mutation of the PAX2 gene in a family with optic nerve colobomas, renal anomalies and vesicoureteral reflux.
- Monosomy 9p24-->pter and trisomy 5q31-->qter: case report and review of two cases.
- Infant with multiple congenital anomalies and deletion (9)(q34.3).
- Localization of an essential ligand binding determinant of the human erythropoietin receptor to a domain N-terminal to the WSXWS motif: implications for soluble recept...
- Platelet endothelial cell adhesion molecule, PECAM-1, modulates cell migration.
- Optic nerve dysplasia and renal insufficiency in a family with a novel PAX2 mutation, Arg115X: further ophthalmologic delineation of the renal-coloboma syndrome.
- Duplication of the Down syndrome critical region does not predict facial phenotype in a baby with a ring chromosome 21.
- Cardiac conduction improvement in two heterozygotes for primary carnitine deficiency on L-carnitine supplementation.
- The lineage-specific gene ponzr1 is essential for zebrafish pronephric and pharyngeal arch development.
Schools
Albert Einstein College of Medicine of Yeshiva University
Doctors Specialties
- Clinical Genetics
- Pediatrics
- Medical Genetics
Accepted Insurances
Education
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Harbor - UCLA Medical Center -
Albert Einstein College of Medicine of Yeshiva University
Hospital
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University of Minnesota Medical Center, Fairview
Helpful Reviews
Medicare Facts
| National Provider Identifier [NPI] | 1568544070 |
| Last Name Of The Provider | SCHIMMENTI |
| First Name Of The Provider | LISA |
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