RobertBHufnagelMDPhD(He/Him)

PubMed

• 1 citations
  Investigating Determinants and Evaluating Deep Learning Training Approaches for Visual Acuity in Foveal Hypoplasia.
  Volha V Malechka, Dat Duong, Keyla D Bordonada, Amy Turriff, Delphine Blain, Elizabeth Murphy, Wendy J Introne, Bernadette R Gochuico, David R Adams, Wadih M Zein, Bri...> ;Ophthalmology Science. 2023 Mar 1
• 1 citations
  A Spontaneous Nonhuman Primate Model of Myopic Foveoschisis.
  Tzu-Ni Sin, Sangbae Kim, Yumei Li, Jun Wang, Rui Chen, Sook Hyun Chung, Soohyun Kim, M Isabel Casanova, Sangwan Park, Zeljka Smit-McBride, Ning Sun, Ori Pomerantz, Jef...> ;Investigative Ophthalmology & Visual Science. 2023 Jan 3
• A de novo hexokinase 1 (HK1) variant presenting as Boucher-Neuhäuser syndrome.
  Ryan H Peretz, Wadih M Zein, Robert B Hufnagel, Christine Ku, Rena Godfrey, Lynne Wolfe, David Adams, William Gahl, Camilo Toro> ;American Journal of Medical Genetics. Part A. 2023 Feb 1
• Zfp503/Nlz2 Is Required for RPE Differentiation and Optic Fissure Closure.
  Elangovan Boobalan, Amy H Thompson, Ramakrishna P Alur, David M McGaughey, Lijin Dong, Grace Shih, Emile R Vieta-Ferrer, Ighovie F Onojafe, Vijay K Kalaskar, Gavin Arn...> ;Investigative Ophthalmology & Visual Science. 2022 Nov 1
• Ophthalmic Manifestations of ROSAH (Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, and Headache) Syndrome, an Inherited NF κB-Mediated Autoinflammator...
  Laryssa A Huryn, Christina Torres Kozycki, Jasmine Y Serpen, Wadih M Zein, Ehsan Ullah, Alessandro Iannaccone, Lloyd B Williams, Lucia Sobrin, Brian P Brooks, H Nida S...> ;Ophthalmology. 2023 Apr 1
• Structural integrity of retinal pigment epithelial cells in eyes with age-related scattered hypofluorescent spots on late phase indocyanine green angiography (ASHS-LIA).
  Joanne Li, Nancy Aguilera, Tao Liu, Andrew J Bower, John P Giannini, Catherine Cukras, Tiarnan D L Keenan, Emily Chew, Brian P Brooks, Wadih M Zein, Laryssa A Huryn, R...> ;Eye. 2023 Feb 1
• Widespread subclinical cellular changes revealed across a neural-epithelial-vascular complex in choroideremia using adaptive optics.
  Nancy Aguilera, Tao Liu, Andrew J Bower, Joanne Li, Sarah Abouassali, Rongwen Lu, John Giannini, Maximilian Pfau, Chelsea Bender, Margery G Smelkinson, Amelia Naik, Bi...> ;Communications Biology. 2022 Sep 13
• 2 citations
  Baseline Microperimetry and OCT in the RUSH2A Study: Structure-Function Association and Correlation With Disease Severity.
  Eleonora M Lad, Jacque L Duncan, Wendi Liang, Maureen G Maguire, Allison R Ayala, Isabelle Audo, David G Birch, Joseph Carroll, Janet K Cheetham, Todd A Durham, Abigai...> ;American Journal of Ophthalmology. 2022 Dec 1
• 3 citations
  Gain-of-function mutations incause an NF-κB-mediated autoinflammatory disease: functional assessment, clinical phenotyping and disease course of patients with ROSAH sy...
  Christina Torres Kozycki, Shilpa Kodati, Laryssa Huryn, Hongying Wang, Blake M Warner, Priyam Jani, Dima Hammoud, Mones S Abu-Asab, Yingyos Jittayasothorn, Mary J Matt...> ;Annals of the Rheumatic Diseases. 2022 Oct 1
• 2 citations
  Photoreceptor and Retinal Pigment Epithelium Relationships in Eyes With Vitelliform Macular Dystrophy Revealed by Multimodal Adaptive Optics Imaging.
  Tao Liu, Nancy Aguilera, Andrew J Bower, Joanne Li, Ehsan Ullah, Alfredo Dubra, Catherine Cukras, Brian P Brooks, Brett G Jeffrey, Robert B Hufnagel, Laryssa A Huryn, ...> ;Investigative Ophthalmology & Visual Science. 2022 Jul 8
• Novel ophthalmic findings and deep phenotyping in Williams-Beuren syndrome.
  Laryssa A Huryn, Taylor Flaherty, Rosalie Nolen, Lev Prasov, Wadih M Zein, Catherine A Cukras, Sharon Osgood, Neelam Raja, Mark D Levin, Susan Vitale, Brian P Brooks, ...> ;The British Journal of Ophthalmology. 2022 Jun 27
• Early-Onset TIMP3-Related Retinopathy Associated With Impaired Signal Peptide.
  Bin Guan, Laryssa A Huryn, Andrew B Hughes, Zhiyu Li, Chelsea Bender, Delphine Blain, Amy Turriff, Catherine A Cukras, Robert B Hufnagel> ;JAMA Ophthalmology. 2022 Jul 1
• 1 citations
  The role of motor proteins in photoreceptor protein transport and visual function.
  Rakesh Radhakrishnan, Venkateshwara R Dronamraju, Matthias Leung, Andrew Gruesen, Ashish K Solanki, Stephen Walterhouse, Heidi Roehrich, Grace Song, Rafael da Costa Mo...> ;Ophthalmic Genetics. 2022 Jun 1
• 1 citations
  Clinical Phenotypes of-Associated Retinal Dystrophies.
  Volha V Malechka, Catherine A Cukras, Emily Y Chew, Yuri V Sergeev, Delphine Blain, Brett G Jeffrey, Ehsan Ullah, Robert B Hufnagel, Brian P Brooks, Laryssa A Huryn, W...> ;Genes. 2022 May 22
• 2 citations
  Tissue-specific genotype-phenotype correlations among USH2A-related disorders in the RUSH2A study.
  Robert B Hufnagel, Wendi Liang, Jacque L Duncan, Carmen C Brewer, Isabelle Audo, Allison R Ayala, Kari Branham, Janet K Cheetham, Stephen P Daiger, Todd A Durham, Bin ...> ;Human Mutation. 2022 May 1
• 1 citations
  Predominant Founder Effect among Recurrent Pathogenic Variants for an X-Linked Disorder.
  Chelsea Bender, Elizabeth Geena Woo, Bin Guan, Ehsan Ullah, Eric Feng, Amy Turriff, Santa J Tumminia, Paul A Sieving, Catherine A Cukras, Robert B Hufnagel> ;Genes. 2022 Apr 12
• ABCA4 c.859-25A>G, a Frequent Palestinian Founder Mutation Affecting the Intron 7 Branchpoint, Is Associated With Early-Onset Stargardt Disease.
  Zelia Corradi, Manar Salameh, Mubeen Khan, Elise Héon, Ketan Mishra, Rebekkah J Hitti-Malin, Yahya AlSwaiti, Alice Aslanian, Eyal Banin, Brian P Brooks, Wadih M Zein, ...> ;Investigative Ophthalmology & Visual Science. 2022 Apr 1
• 3 citations
  frameshift mutation inassociated with bilateral uveal coloboma and microphthalmia.
  Charles DeYoung, Bin Guan, Ehsan Ullah, Delphine Blain, Robert B Hufnagel, Brian P Brooks> ;Ophthalmic Genetics. 2022 Aug 1
• Rare and common variants in ROM1 and PRPH2 genes trans-modify Stargardt/ABCA4 disease.
  Jana Zernant, Winston Lee, Jun Wang, Kerry Goetz, Ehsan Ullah, Takayuki Nagasaki, Pei-Yin Su, Gerald A Fishman, Stephen H Tsang, Santa J Tumminia, Brian P Brooks, Robe...> ;Plos Genetics. 2022 Mar 1
• Variable Anterior Segment Dysgenesis and Cardiac Anomalies Caused by a Novel Truncating Variant of FOXC1.
  Mariya R Ahmed, Saumil Sethna, Laura A Krueger, Michael B Yang, Robert B Hufnagel> ;Genes. 2022 Feb 24
• 3 citations
  Photoreceptor degeneration in ABCA4-associated retinopathy and its genetic correlates.
  Maximilian Pfau, Catherine A Cukras, Laryssa A Huryn, Wadih M Zein, Ehsan Ullah, Marisa P Boyle, Amy Turriff, Michelle A Chen, Aarti S Hinduja, Hermann Ea Siebel, Robe...> ;JCI Insight. 2022 Jan 25
• Transcriptional mapping of the macaque retina and RPE-choroid reveals conserved inter-tissue transcription drivers and signaling pathways.
  Ameera Mungale, David M McGaughey, Congxiao Zhang, Sairah Yousaf, James Liu, Brian P Brooks, Arvydas Maminishkis, Temesgen D Fufa, Robert B Hufnagel> ;Frontiers in Genetics. 2022 Jan 1
• Monoallelic variants resulting in substitutions of MAB21L1 Arg51 Cause Aniridia and microphthalmia.
  Hildegard Nikki Hall, Hemant Bengani, Robert B Hufnagel, Giuseppe Damante, Morad Ansari, Joseph A Marsh, Graeme R Grimes, Alex von Kriegsheim, David Moore, Lisa McKie,...> ;Plos One. 2022 Jan 1
• 1 citations
  Review of evidence for environmental causes of uveal coloboma.
  Evan B Selzer, Delphine Blain, Robert B Hufnagel, Philip J Lupo, Laura E Mitchell, Brian P Brooks> ;Survey of Ophthalmology. 2021 Dec 31
• 13 citations
  AMPK modulation ameliorates dominant disease phenotypes of CTRP5 variant in retinal degeneration.
  Kiyoharu J Miyagishima, Ruchi Sharma, Malika Nimmagadda, Katharina Clore-Gronenborn, Zoya Qureshy, Davide Ortolan, Devika Bose, Mitra Farnoodian, Congxiao Zhang, Andre...> ;Communications Biology. 2021 Dec 9
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