Your account is not claimed yet. You can sign up with ORCID to claim your account.

Lisa A Schimmenti

ORCID

Publication Activity (10 Years)

Years Active: 2015-2023
Publications (10 Years): 9

Top Venues

American journal of medical genetics. Part A

Molecular genetics & genomic medicine

Zebrafish

Neurology

Mayo Clinic Rochester

Johns Hopkins University (BSC)

This page only lists publications with an associated author ORCID identifier.

Affiliation History

Mayo Clinic Rochester

United States

Senior Associate Consultant :: Otorhinolaryngology

Education History

Johns Hopkins University

United States

BSC

Publications

Kenneth C Riley, Alaa Koleilat, Joseph A Dugdale, Shawna A Cooper, Trace A Christensen, Lisa A Schimmenti
Three-Dimensional Structure of Inner Ear Hair Cell Ribbon Synapses in a Zebrafish Model of Usher Syndrome Type 1B. Zebrafish 20 (2) (2023)
Hannah C Happ, Lynette G Sadleir, Matthew Zemel, Guillem de Valles-Ibáñez, Michael S Hildebrand, Allyn McConkie-Rosell, Marie McDonald, Halie May, Tristan T Sands, Vimla Aggarwal, Christopher Elder, Timothy Feyma, Carolina Alvarez, Rikke Steensjerre Moller, Christina D Fenger, Jens Erik Klint Nielsen, Anita N Datta, Kathleen M Gorman, Mary D King, Natalia Linhares, Barbara K Burton, Andrea Paras, Sian Ellard, Julia Rankin, Anju Shukla, Purvi Majethia, Rory J Olson, Karthik Muthusamy, Lisa A Schimmenti, Keith Starnes, Lucie Sedlackova, Katalin Sterbova, Marketa Vlckova, Petra Lassuthova, Alena Jahodova, Brenda E Porter, Nathalie Couque, Estelle Colin, Clément Prouteau, Corinne Collet, Thomas Smol, Roseline Caumes, Fleur Vansenne, Francesca Bisulli, Francesca Bisulli, Richard Person, Erin Torti, Kirsty McWalter, Richard Webster, Elizabeth E Gerard, Gaetan Lesca, Pierre Szepetowski, Ingrid Eileen Scheffer, Heather C Mefford, Gemma L Carvill
Neurodevelopmental and Epilepsy Phenotypes in Individuals With Missense Variants in the Voltage Sensing and Pore Domain of KCNH5. Neurology (2022)
Stephanie L Safgren, Rory J Olson, Filippo Pinto E Vairo, Erick D Bothun, Christian Hanna, Eric W Klee, Lisa A Schimmenti
De novo PBX1 variant in a patient with glaucoma, kidney anomalies, and developmental delay: An expansion of the CAKUTHED phenotype. American journal of medical genetics. Part A (2021)
Katelynn M Wilton, Lauren B Gunderson, Linda Hasadsri, Christopher P Wood, Lisa A Schimmenti
Profound intellectual disability caused by homozygous TRAPPC9 pathogenic variant in a man from Malta. Molecular genetics & genomic medicine 8 (5) (2020)
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
Growth hormone deficiency in a child with branchio-oto-renal spectrum disorder: Clinical evidence of EYA1 in pituitary development and a recommendation for pituitary function surveillance. American journal of medical genetics. Part A 185 (1) (2020)
Elizabeth I Pierpont, Susan A Berry, Angela E Lin, Jamie L Lohr, Lisa A Schimmenti, William B Dobyns
Mary Ella Mascia Pierpont: Geneticist, scientist, mentor, friend (1945-2020). American journal of medical genetics. Part A 185 (2) (2020)
Alaa Koleilat, Joseph A Dugdale, Trace A Christenson, Jeffrey L Bellah, Aaron M Lambert, Mark A Masino, Stephen C Ekker, Lisa A Schimmenti
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 (11) (2020)
Patrick Kiessling, Eric M Dowling, Yajue Huang, Mai Lan Ho, Karthik Balakrishnan, Brenda J Weigel, W Edward Highsmith, Zhiyv Niu, Lisa A Schimmenti
Identification of aggressive Gardner syndrome phenotype associated with a de novo APC variant, c.4666dup. Cold Spring Harbor molecular case studies 5 (2) (2019)
Derek Wong, Silvia Tortorelli, Lisa Bishop, Elizabeth A Sellars, Lisa A Schimmenti, Natalie Gallant, Carlos E Prada, Robert J Hopkin, Nancy D Leslie, Susan A Berry, David S Rosenblatt, Amy L Fair, Dietrich Matern, Kimiyo Raymond, Devin Oglesbee, Piero Rinaldo, Dimitar Gavrilov
Outcomes of four patients with homocysteine remethylation disorders detected by newborn screening. Genetics in medicine : official journal of the American College of Medical Genetics 18 (2) (2015)

Lisa A Schimmenti.css-eqlu8i{font-size:small;padding-left:4px;}

Publication Activity (10 Years)

Top Topics

Top Venues

Lisa A Schimmenti