Robert B Hufnagel
22PUBLICATIONS
114CO-AUTHORS
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Publications (22)
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|May 02, 2025
Splicing variants in MYRF cause partial loss of function in the retinal pigment epithelium.Gabrielle M Rozumek, Michelle L Brinkmeier, Bin Guan
|Apr 14, 2025
Compendium of Clinical Variant Classification for 2,246 Unique ABCA4 Variants to Clarify Variant Pathogenicity in Stargardt Disease Using a Modified ACMG/AMP Framework.Stéphanie S Cornelis, Miriam Bauwens, Lonneke Haer-Wigman
|Nov 28, 2024
Variants in NR6A1 cause a novel oculo-vertebral-renal (OVR) syndrome.Uma M Neelathi, Ehsan Ullah, Aman George
|Nov 28, 2024
Variants in NR6A1 cause a novel oculo-vertebral-renal (OVR) syndrome.Uma M Neelathi, Ehsan Ullah, Aman George
|Nov 12, 2024
Epidemiology of Coloboma: Prevalence and Patterns in Texas, 1999-2014.Danielle L Mitchell, Tiffany M Chambers, A J Agopian
|Aug 26, 2023
A Comprehensive Report of Intrinsically Disordered Regions in Inherited Retinal Diseases.Karen E Lee, Jose S Pulido, Mariana M da Palma
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Frequent Collaborators
4 joint publications
Gavin Arno
4 joint publications
Brian P Brooks
4 joint publications
Ehsan Ullah
4 joint publications
Delphine Blain
4 joint publications
Yuri V Sergeev
3 joint publications
Amelia Naik
3 joint publications
Wadih M Zein
3 joint publications
Bin Guan
2 joint publications
Carlos E Prada
2 joint publications
Lev Prasov
