431 Evaluating defective Transcription Coupled-Nucleotide Excision Repair as a mechanism for sensorineural hearing loss in a zebrafish model of Cockayne Syndrome by Gabriel Hernandez-Herrera, Joseph Dugdale, Lisa A. Schimmenti, Karl Clark, Ryan Cotter

Get full text

Profound intellectual disability caused by homozygous TRAPPC9 pathogenic variant in a man from Malta by Katelynn M. Wilton, Lauren B. Gunderson, Linda Hasadsri, Christopher P. Wood, Lisa A. Schimmenti

Get full text

Identification of AFG3L2 dominant optic atrophy following reanalysis of clinical exome sequencing by Michael C. Brodsky, Rory J. Olson, Faizal Z. Asumda, Madeline Q.R. Lopour, Lisa A. Schimmenti, Eric W. Klee

Get full text

Alström syndrome caused by maternal uniparental disomy by Madeline Q.R. Lopour, Lisa A. Schimmenti, Nicole J. Boczek, Hutton M. Kearney, Arlene V. Drack, Michael C. Brodsky

Get full text

Prevalence of mutations in inherited retinal diseases: A comparison between the United States and India by Sophia Yohe, Malaichamy Sivasankar, Anuprita Ghosh, Arkasubhra Ghosh, Jennifer Holle, Sakthivel Murugan, Ravi Gupta, Lisa A. Schimmenti, Ramprasad Vedam, Bharat Thyagarajan

Get full text

L-type voltage-gated calcium channel agonists mitigate hearing loss and modify ribbon synapse morphology in the zebrafish model of Usher syndrome type 1 by Alaa Koleilat, Joseph A. Dugdale, Trace A. Christenson, Jeffrey L. Bellah, Aaron M. Lambert, Mark A. Masino, Stephen C. Ekker, Lisa A. Schimmenti

Get full text

Development and Notch signaling requirements of the zebrafish choroid plexus. by Brent R Bill, Darius Balciunas, Joshua A McCarra, Eric D Young, Toua Xiong, Ashley M Spahn, Marta Garcia-Lecea, Vladimir Korzh, Stephen C Ekker, Lisa A Schimmenti

Get full text

Genome-wide reverse genetics framework to identify novel functions of the vertebrate secretome. by Michael A Pickart, Eric W Klee, Aubrey L Nielsen, Sridhar Sivasubbu, Eric M Mendenhall, Brent R Bill, Eleanor Chen, Craig E Eckfeldt, Michelle Knowlton, Mara E Robu, Jon D Larson, Yun Deng, Lisa A Schimmenti, Lynda B M Ellis, Catherine M Verfaillie, Matthias Hammerschmidt, Steven A Farber, Stephen C Ekker

Get full text

Building the vertebrate codex using the gene breaking protein trap library by Noriko Ichino, MaKayla R Serres, Rhianna M Urban, Mark D Urban, Anthony J Treichel, Kyle J Schaefbauer, Lauren E Tallant, Gaurav K Varshney, Kimberly J Skuster, Melissa S McNulty, Camden L Daby, Ying Wang, Hsin-kai Liao, Suzan El-Rass, Yonghe Ding, Weibin Liu, Jennifer L Anderson, Mark D Wishman, Ankit Sabharwal, Lisa A Schimmenti, Sridhar Sivasubbu, Darius Balciunas, Matthias Hammerschmidt, Steven Arthur Farber, Xiao-Yan Wen, Xiaolei Xu, Maura McGrail, Jeffrey J Essner, Shawn M Burgess, Karl J Clark, Stephen C Ekker

Get full text

Implementation of genomic medicine for rare disease in a tertiary healthcare system: Mayo Clinic Program for Rare and Undiagnosed Diseases (PRaUD) by 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, Gabrielle F. Shupe, Alyssa K. Knudson, Elizabeth M. Burke, Elle C. Loftus, Lorelei A. Bandel, Carri A. Prochnow, Lindsay A. Mulvihill, Brittany Thomas, Dale M. Gable, Courtney B. Graddy, Giovanna G. Moreno Garzon, Idara U. Ekpoh, Eva M. Carmona Porquera, Fernando C. Fervenza, Marie C. Hogan, Mireille El Ters, Kenneth J. Warrington, John M. Davis, Matthew J. Koster, Amir B. Orandi, Matthew L. Basiaga, Adrian Vella, Seema Kumar, Ana L. Creo, Aida N. Lteif, Siobhan T. Pittock, Peter J. Tebben, Ejigayehu G. Abate, Avni Y. Joshi, Elizabeth H. Ristagno, Mrinal S. Patnaik, Lisa A. Schimmenti, Radhika Dhamija, Sonia M. Sabrowsky, Klaas J. Wierenga, Mira T. Keddis, Niloy Jewel J. Samadder, Richard J. Presutti, Steven I. Robinson, Michael C. Stephens, Lewis R. Roberts, William A. Faubion, Sherilyn W. Driscoll, Lily C. Wong-Kisiel, Duygu Selcen, Eoin P. Flanagan, Vijay K. Ramanan, Lauren M. Jackson, Michelle L. Mauermann, Victor E. Ortega, Sarah A. Anderson, Stacy L. Aoudia, Eric W. Klee, Tammy M. McAllister, Konstantinos N. Lazaridis

Get full text