Surgical, medical and developmental outcomes in patients with Down syndrome and cataracts

by Stephanie L Santoro, Dema Atoum, Robert B Hufnagel, William W Motley
Published 2017-06-01

Genetics in Ophthalmology

by Lev Prasov, Stephen T. Armenti, Virginia Miraldi Utz, Julia E. Richards, Robert B. Hufnagel
Published 2018-01-01

Peripheral Cone Dystrophy: Expanded Clinical Spectrum, Multimodal and Ultrawide-Field Imaging, and Genomic Analysis

by Robert A. Sisk, Robert B. Hufnagel, Ailee Laham, Elizabeth S. Wohler, Nara Sobreira, Zubair M. Ahmed
Published 2018-01-01

MAP3K1 function is essential for cytoarchitecture of the mouse organ of Corti and survival of auditory hair cells

by Rizwan Yousaf, Qinghang Meng, Robert B. Hufnagel, Ying Xia, Chandrakala Puligilla, Zubair M. Ahmed, Saima Riazuddin
Published 2015-12-01

Case of Small Vessel Disease Associated with COL4A1 Mutations following Trauma

by Joao McONeil Plancher, Robert B. Hufnagel, Achala Vagal, Katrina Peariso, Howard M. Saal, Joseph P. Broderick
Published 2015-06-01

Congenital Cataracts and Gut Dysmotility in a DYNC1H1 Dyneinopathy Patient

by Rose Gelineau-Morel, Marshall Lukacs, K. Nicole Weaver, Robert B. Hufnagel, Donald L. Gilbert, Rolf W. Stottmann
Published 2016-10-01

Sensitive extraction-free SARS-CoV-2 RNA virus detection using a chelating resin

by Bin Guan, Karen M. Frank, José O. Maldonado, Margaret Beach, Eileen Pelayo, Blake M. Warner, Robert B. Hufnagel
Published 2021-09-01

A mutation in the tuft mouse disrupts TET1 activity and alters the expression of genes that are crucial for neural tube closure

by Keith S. K. Fong, Robert B. Hufnagel, Vedbar S. Khadka, Michael J. Corley, Alika K. Maunakea, Ben Fogelgren, Zubair M. Ahmed, Scott Lozanoff
Published 2016-05-01

Homozygous missense variant in BMPR1A resulting in BMPR signaling disruption and syndromic features

by Bianca E. Russell, Diana Rigueur, Kathryn N. Weaver, Kristen Sund, Janet S. Basil, Robert B. Hufnagel, Cynthia A. Prows, Alan Oestreich, Lihadh Al‐Gazali, Robert J Hopkin, Howard M. Saal, Karen Lyons, Andrew Dauber
Published 2019-11-01

Persistent Dark Cones in Oligocone Trichromacy Revealed by Multimodal Adaptive Optics Ophthalmoscopy

by Joanne Li, Tao Liu, Oliver J. Flynn, Amy Turriff, Zhuolin Liu, Ehsan Ullah, Jianfei Liu, Alfredo Dubra, Mary A. Johnson, Brian P. Brooks, Robert B. Hufnagel, Daniel X. Hammer, Laryssa A. Huryn, Brett G. Jeffrey, Johnny Tam
Published 2021-03-01

Variants in myelin regulatory factor (MYRF) cause autosomal dominant and syndromic nanophthalmos in humans and retinal degeneration in mice.

by Sarah J Garnai, Michelle L Brinkmeier, Ben Emery, Tomas S Aleman, Louise C Pyle, Biliana Veleva-Rotse, Robert A Sisk, Frank W Rozsa, Ayse Bilge Ozel, Jun Z Li, Sayoko E Moroi, Steven M Archer, Cheng-Mao Lin, Sarah Sheskey, Laurel Wiinikka-Buesser, James Eadie, Jill E Urquhart, Graeme C M Black, Mohammad I Othman, Michael Boehnke, Scot A Sullivan, Gregory L Skuta, Hemant S Pawar, Alexander E Katz, Laryssa A Huryn, Robert B Hufnagel, Genomic Ascertainment Cohort, Sally A Camper, Julia E Richards, Lev Prasov
Published 2019-05-01