Affiliation: University of Minnesota
- A novel microdeletion/microduplication syndrome of 19p13.13Michelle Dolan
Department of Laboratory Medicine and Pathology, University of Minnesota Medical School, Minneapolis, Minnesota 55455, USA
Genet Med 12:503-11. 2010..We here describe the clinical and cytogenomic correlates of a novel microdeletion/microduplication of 19p13.13...
- Renal coloboma syndromeLisa A Schimmenti
Department of Pediatrics, Division of Genetics and Metabolism, Institute of Human Genetics, Center for Neurobehavioral Development and the Developmental Biology Center, University of Minnesota, 420 Delaware Street, Minneapolis, MN 55356, USA
Eur J Hum Genet 19:1207-12. 2011....
- Novel mutation in sonic hedgehog in non-syndromic colobomatous microphthalmiaLisa A Schimmenti
UCLA Department of Human Genetics, Pediatrics, The Jules Stein Eye Institute and Mental Retardation Research Center, Los Angeles, California, USA
Am J Med Genet A 116:215-21. 2003..A novel 24 bp deletion in the gene SHH was identified in these affected family members, and cosegregated with the phenotype. This is the first report of the association of SHH mutations and uveoretinal coloboma...
- Optic nerve dysplasia and renal insufficiency in a family with a novel PAX2 mutation, Arg115X: further ophthalmologic delineation of the renal-coloboma syndromeLisa A Schimmenti
Department of Human Genetics, Jules Stein Eye Institute, Mental Retardation Research Center, UCLA School of Medicine, Los Angeles, CA, USA
Ophthalmic Genet 24:191-202. 2003..We also report on the ocular and extraocular manifestations of PAX2 mutations for all cases of renal-coloboma syndrome reported to date...
- Infant hearing loss and connexin testing in a diverse populationLisa A Schimmenti
Department of Pediatrics, Institute of Human Genetics, University of Minnesota Medical School, Minneapolis, Minnesota 55455, USA
Genet Med 10:517-24. 2008..This is the first study to differentiate infants with and without connexin-related hearing loss...
- Evaluation of newborn screening bloodspot-based genetic testing as second tier screen for bedside newborn hearing screeningLisa A Schimmenti
Departments of Pediatrics University of Minnesota, Minneapolis, USA
Genet Med 13:1006-10. 2011..We propose that bloodspot-based genetic testing for GJB2 alleles can provide a means for rapid confirmation in a subset of infants who fail bedside newborn hearing screening...
- Exclusion of PITX2 mutations as a major cause of CHARGE associationDonna M Martin
Department of Pediatrics, The University of Michigan Medical School, Ann Arbor 48109 0688, USA
Am J Med Genet 111:27-30. 2002..Together, these data indicate that PITX2 mutations are unlikely to be a major contributing cause of the multiple anomalies present in individuals with CHARGE...
- 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 ConsortiumChristine Hills
Department of Pediatrics, University of Minnesota, Minneapolis, Minnesota, USA
Pediatrics 117:e924-7. 2006....
- Severe methylenetetrahydrofolate reductase (MTHFR) deficiency: a case report of nonclassical homocystinuriaLisa Bishop
Department of Pediatrics, University of Minnesota, Minneapolis, MN 55455, USA
J Child Neurol 23:823-8. 2008..This case emphasizes the need to include homocystinuria in the differential diagnosis of children with acute/subacute neurological changes, particularly in the context of developmental delay...
- Sharing GJB2/GJB6 genetic test information with family membersTerri Blase
Department of Biology, California State University Northridge, Northridge, CA, USA
J Genet Couns 16:313-24. 2007..Differences suggest that hearing loss may have unique attributes that influence responses to genetic test information. Further research is needed to replicate these findings...
- Prelingual siblings of children with GJB2 hearing loss: issues to considerChristina G S Palmer
Department of Psychiatry and Biobehavioral Sciences, University of California, Los Angeles, UCLA Neuropsychiatric Institute, 90095, USA
Arch Otolaryngol Head Neck Surg 131:1020-2. 2005
- Duplication of the Down syndrome critical region does not predict facial phenotype in a baby with a ring chromosome 21Eric A Crombez
Department of Pediatrics, The David Geffen School of Medicine at UCLA, Los Angeles, CA, USA
Clin Dysmorphol 14:183-7. 2005..The phenotype of this patient supports the hypothesis that the duplication of the Down syndrome critical region alone is not sufficient to recapitulate the classical Down syndrome craniofacial phenotype...
- 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 infantsChristina G S Palmer
Department of Psychiatry and Biobehavioral Sciences, UCLA, Los Angeles, CA 90095, USA
Am J Med Genet A 149:1169-82. 2009....
- WNT5A mutations in patients with autosomal dominant Robinow syndromeAnthony D Person
Department of Genetics, Cell Biology, and Development, University of Minnesota, Minneapolis, Minnesota, USA
Dev Dyn 239:327-37. 2010..This work suggests that a WNT5A/ROR2 signal transduction pathway is important in human craniofacial and skeletal development and that proper formation and growth of these structures is sensitive to variations in WNT5A function...
- Recurrent 10q22-q23 deletions: a genomic disorder on 10q associated with cognitive and behavioral abnormalitiesJorune Balciuniene
Department of Genetics, Cell Biology and Development, University of Minnesota, Minneapolis, MN 55455, USA
Am J Hum Genet 80:938-47. 2007..Our data provide evidence that the 10q22-q23 genomic region harbors one or more genes important for cognitive and behavioral development and that recurrent deletions affecting this interval define a novel genomic disorder...
- Detection of cytomegalovirus DNA in dried blood spots of Minnesota infants who do not pass newborn hearing screeningK Yeon Choi
Department of Pediatrics, University of Minnesota Medical School, Minneapolis, MN 55455 0374, USA
Pediatr Infect Dis J 28:1095-8. 2009..Early diagnosis linking virologic identification of congenital CMV infection to infants failing NHS may improve diagnostic precision and enhance opportunities for therapeutic intervention...
- Ethnic differences in parental perceptions of genetic testing for deaf infantsChristina G S Palmer
Department of Psychiatry and Biobehavioral Sciences, University of California, Los Angeles, CA 90024, USA
J Genet Couns 17:129-38. 2008..Understanding different perspectives on genetic testing for deafness will enhance genetic counselors' cultural competence and facilitate the pre-test genetic counseling session...
- Identification of novel mutations and sequence variants in the SOX2 and CHX10 genes in patients with anophthalmia/microphthalmiaJie Zhou
Division of Ophthalmology, Children s Hospital of Philadelphia, Philadelphia, PA, USA
Mol Vis 14:583-92. 2008..In this study, we evaluated 34 anophthalmic/microphthalmic patient DNA samples (two sets of siblings included) for mutations and sequence variants in SOX2 and CHX10...
- Genetic testing as part of the early hearing detection and intervention (EHDI) processLisa A Schimmenti
Department of Pediatrics and Institute of Human Genetics, University of Minnesota, USA
Genet Med 6:521-5. 2004