LisaAnnSchimmentiMDFACMG, FAAP

PubMed

• The Importance of Mitochondrial Disease Testing in Young Adults With New Onset Sensorineural Hearing Loss.
  Alaa Koleilat, Gayla L Poling, Lisa A Schimmenti, Linda Hasadsri> ;Ear and Hearing. 2023 Nov 6
• A somatic splice-site variant in PIK3R1 in a patient with vascular overgrowth and low immunoglobulin levels: A case report.
  Matheus V M B Wilke, Lisa Schimmenti, Madeline Q R Lopour, Megha M Tollefson, Eric W Klee> ;Molecular Genetics & Genomic Medicine. 2023 Dec 1
• Implementation of genomic medicine for rare disease in a tertiary healthcare system: Mayo Clinic Program for Rare and Undiagnosed Diseases (PRaUD).
  Filippo Pinto E Vairo, Jennifer L Kemppainen, Carolyn R Rohrer Vitek, Denise A Whalen, Kayla J Kolbert, Kaitlin J Sikkink, Sarah A Kroc, Teresa Kruisselbrink, Gabriell...> ;Journal of Translational Medicine. 2023 Jun 23
• Identification ofdominant optic atrophy following reanalysis of clinical exome sequencing.
  Michael C Brodsky, Rory J Olson, Faizal Z Asumda, Madeline Q R Lopour, Lisa A Schimmenti, Eric W Klee> ;American Journal of Ophthalmology Case Reports. 2023 Jun 1
• Three-Dimensional Structure of Inner Ear Hair Cell Ribbon Synapses in a Zebrafish Model of Usher Syndrome Type 1B.
  Kenneth C Riley Jr, Alaa Koleilat, Joseph A Dugdale, Shawna A Cooper, Trace A Christensen, Lisa A Schimmenti> ;Zebrafish. 2023 Apr 1
• Aminoglycoside induced ototoxicity risk in the cystic fibrosis population: The utility of large-scale screening.
  Jaime Lopes, Noemi Vidal-Folch, Patrick Lundquist, Lisa A Schimmenti, Nadir Demirel, Vicki Dean, Janelle Olson, Tom Auth, Malinda Butz, Katelyn Reed, Mark Wylam, Jessi...> ;Pediatric Pulmonology. 2023 Mar 1
• 2 citations
  Neurodevelopmental and Epilepsy Phenotypes in Individuals With Missense Variants in the Voltage-Sensing and Pore Domains of.
  Hannah C Happ, Lynette G Sadleir, Matthew Zemel, Guillem de Valles-Ibáñez, Michael S Hildebrand, Allyn McConkie-Rosell, Marie McDonald, Halie May, Tristan Sands, Vimla...> ;Neurology. 2023 Feb 7
• Left-sided valvular heart disease and retinopathy in a 38-year-old woman with attenuated mucopolysaccharidosis: a case report.
  Faizal Z Asumda, Jessica A Kraker, Sarah C Thomas, Joseph Maleszewski, Edwin M Stone, Brendan C Lanpher, Lisa A Schimmenti> ;Therapeutic Advances in Rare Disease. 2023 Jan 12
• 5 citations
  De novo PBX1 variant in a patient with glaucoma, kidney anomalies, and developmental delay: An expansion of the CAKUTHED phenotype
  Stephanie L. Safgren, Rory J. Olson, Filippo Vairo, Erick D. Bothun, Christian Hanna, Eric W. Klee, Lisa A. Schimmenti> ;American Journal of Medical Genetics. Part A. 2021 Nov 19
• 1 citations
  3q21 deletion affects GATA2 and is associated with myelodysplastic syndrome.
  Jacob R. Greenmyer, Whitney S. Thompson, Nicole L. Hoppman, Shakila P. Khan, Mrinal S. Patnaik, Lisa A. Schimmenti, Mira A. Kohorst> ;British Journal of Haematology. 2021 Oct 14
• 12 citations
  Disease-specific ACMG/AMP guidelines improve sequence variant interpretation for hearing loss.
  Mayher J. Patel, Marina T. DiStefano, Andrea M. Oza, Madeline Y. Hughes, Emma H. Wilcox, Sarah E. Hemphill, Brandon J. Cushman, Andrew R. Grant, Rebecca K. Siegert, Ju...> ;Genetics in Medicine. 2021 Jul 6
• 14 citations
  New Tmc1 Deafness Mutations Impact Mechanotransduction in Auditory Hair Cells.
  Maryline Beurg, Lisa A. Schimmenti, Alaa Koleilat, Sami S. Amr, Andrea M. Oza, Amanda J. Barlow, Angela Ballesteros, Robert Fettiplace> ;The Journal of Neuroscience. 2021 Apr 6
• Mary Ella Mascia Pierpont: Geneticist, scientist, mentor, friend (1945-2020).
  Elizabeth I. Pierpont, Susan A. Berry, Angela E. Lin, Jamie L. Lohr, Lisa A. Schimmenti, William B. Dobyns> ;American Journal of Medical Genetics. Part A. 2021 Feb 1
• 2 citations
  Growth hormone deficiency in a child with branchio-oto-renal spectrum disorder: Clinical evidence of EYA1 in pituitary development and a recommendation for pituitary f...
  Karthik Muthusamy, Christian Hanna, Derek R. Johnson, Carl H. Cramer, Peter J. Tebben, Sharon E. Libi, Gayla L. Poling, Brendan C. Lanpher, Eva Morava, Lisa A. Schimmenti> ;American Journal of Medical Genetics. Part A. 2021 Jan 1
• 3 citations
  Association of pigmented paravenous retinochoroidal atrophy (PPRCA) with a pathogenic variant in the HK1 gene.
  Saumya M. Shah, Lisa A. Schimmenti, John Chiang, Raymond Iezzi> ;Retinal Cases & Brief Reports. 2020 Nov 4
• 18 citations
  Impact of integrated translational research on clinical exome sequencing.
  Eric W. Klee, Margot A. Cousin, Filippo Vairo, Joel A. Morales-Rosado, Erica L. Macke, Garrett Jenkinson, Alejandro Ferrer, Laura Schultz-Rogers, Rory J. Olson, Gavin ...> ;Genetics in Medicine. 2021 Mar 1
• 4 citations
  L-type voltage-gated calcium channel agonists mitigate hearing loss and modify ribbon synapse morphology in the zebrafish model of Usher syndrome type 1
  Joseph A Dugdale, Trace A. Christenson, Jeffrey L. Bellah, Aaron M. Lambert, Mark A. Masino, Stephen C. Ekker, Lisa A. Schimmenti> ;Disease Models & Mechanisms. 2020 Nov 1
• 1 citations
  The GoAudio Quantitative Mobile Audiology Test Enhances Access to Clinical Hearing Assessments.
  David P. Argue, Lisa A. Schimmenti, Stephen C. Ekker, Gayla L. Poling> ;American Journal of Audiology. 2020 Oct 20
• 5 citations
  Congenital ichthyosis in Prader-Willi syndrome associated with maternal chromosome 15 uniparental disomy: Case report and review of autosomal recessive conditions unma...
  Karthik Muthusamy, Erica L. Macke, Eric W. Klee, Peter J. Tebben, Jennifer L. Hand, Linda Hasadsri, Cherisse A. Marcou, Lisa A. Schimmenti> ;American Journal of Medical Genetics. Part A. 2020 Oct 1
• 14 citations
  Building the vertebrate codex using the gene breaking protein trap library
  Noriko Ichino, MaKayla R Serres, Rhianna M. Urban, Mark D. Urban, Anthony J. Treichel, Kyle J. Schaefbauer, Lauren E Greif, Gaurav K. Varshney, Kimberly J. Skuster, Me...> ;Elife. 2020 Aug 11
• 2 citations
  Hypopharyngeal Squamous Cell Carcinoma in Sisters with LMNA Associated Familial Partial Lipodystrophy: A Case Report and Review of the Literature.
  Stephanie J. Youssef, Robert J. Macielak, Lisa A. Schimmenti, Kyriakos Chatzopoulos, Daniel L. Price> ;The Annals of Otology, Rhinology, and Laryngology. 2020 Jun 9
• 4 citations
  Development and Validation of a Next-Generation Sequencing Panel for Syndromic and Nonsyndromic Hearing Loss.
  Malinda L. Butz, Amber McDonald, Patrick A. Lundquist, Melanie Meyer, Sean C. Harrington, Sarah Kester, Mariam I Stein, Nipun A. Mistry, Eric Zimmerman Zuckerman, Zhiy...> ;The Journal of Applied Laboratory Medicine. 2020 May 1
• 18 citations
  Profound intellectual disability caused by homozygous TRAPPC9 pathogenic variant in a man from Malta.
  Katelynn M. Wilton, Lauren Gunderson, Linda Hasadsri, Christopher P. Wood, Lisa A. Schimmenti> ;Molecular Genetics & Genomic Medicine. 2020 Mar 11
• 9 citations
  Prevalence of mutations in inherited retinal diseases: A comparison between the United States and India.
  Sophia Yohe, Malaichamy Sivasankar, Anuprita Ghosh, Arkasubhra Ghosh, Jennifer Holle, Sakthivel Murugan, Ravi Gupta, Lisa A. Schimmenti, Ramprasad Vedam, Bharat Thyaga...> ;Molecular Genetics & Genomic Medicine. 2020 Feb 1
• 1 citations
  The Best Retinitis Pigmentosa Masquerade.
  Michael C. Brodsky, Lisa A. Schimmenti, Raymond Iezzi> ;Ophthalmology. 2019 Dec 1
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