Lisa A. Schimmenti, M.D.
Affiliations: | Pediatrics | University of Minnesota, Twin Cities, Minneapolis, MN |
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Publications
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| Koleilat A, Dugdale JA, Christenson TA, et al. (2020) L-type voltage-gated calcium channel agonists mitigate hearing loss and modify ribbon synapse morphology in the zebrafish model of Usher syndrome type 1 Disease Models & Mechanisms. 13 |
| Koleilat A, Argue DP, Schimmenti LA, et al. (2020) The GoAudio Quantitative Mobile Audiology Test Enhances Access to Clinical Hearing Assessments. American Journal of Audiology. 1-11 |
| Muthusamy K, Macke EL, Klee EW, et al. (2020) Congenital ichthyosis in Prader-Willi syndrome associated with maternal chromosome 15 uniparental disomy: Case report and review of autosomal recessive conditions unmasked by UPD. American Journal of Medical Genetics. Part A |
| Ichino N, Serres MR, Urban RM, et al. (2020) Building the vertebrate codex using the gene breaking protein trap library. Elife. 9 |
| Ichino N, Serres MR, Urban RM, et al. (2020) Author response: Building the vertebrate codex using the gene breaking protein trap library Elife |
| Blackburn PR, Zepeda-Mendoza CJ, Kruisselbrink TM, et al. (2019) Variable expressivity of syndromic BMP4-related eye, brain, and digital anomalies: A review of the literature and description of three new cases. European Journal of Human Genetics : Ejhg |
| DiStefano MT, Hemphill SE, Oza AM, et al. (2019) ClinGen expert clinical validity curation of 164 hearing loss gene-disease pairs. Genetics in Medicine : Official Journal of the American College of Medical Genetics |
| Riché R, Liao M, Pena IA, et al. (2018) Glycine decarboxylase deficiency-induced motor dysfunction in zebrafish is rescued by counterbalancing glycine synaptic level. Jci Insight. 3 |
| Oza AM, DiStefano MT, Hemphill SE, et al. (2018) Expert specification of the ACMG/AMP variant interpretation guidelines for genetic hearing loss. Human Mutation. 39: 1593-1613 |
| Shah SM, Schimmenti LA, Marmorstein AD, et al. (2018) ADULT-ONSET VITELLIFORM MACULAR DYSTROPHY SECONDARY TO A NOVEL IMPG2 GENE VARIANT. Retinal Cases & Brief Reports |