Robert B. Hufnagel

Also affiliated with Kaiser Permanente, Kaiser Permanente Center for Health Research, National Eye Institute, Hawaii Permanente Medical Group

Biochemistry, Genetics and Molecular BiologyMedicine

Pilot corpus only

This score is computed over theSindex pilot corpus and does not cover the full scientific literature. Scores are relative to papers we have ingested — papers, authors, and institutions outside the pilot are not represented. Methodology.

Top 1%percentile

5.5Author DataRank

Indexed papers

5in pilot corpus

datarank_citation_only_1hop_v6· scope data_onlyMethodology

Why this DataRank?

An author's DataRank is the sum of the DataRanks of all 5 indexed papers attributed to them. A prolific author with many moderate-impact papers can outrank one with a single high-impact paper.

Author scores recompute whenever paper DataRanks are refreshed, so this number lags the underlying paper scores by at most one batch run.

Read the full methodology →

The highest-impact dataset this researcher has shared, ranked by DataRank — the single contribution doing the most to lift their data-sharing standing.

Genetic testing for inherited eye conditions in over 6,000 individuals through the eyeGENE network

American Journal of Medical Genetics Part C: Seminars in Medical Genetics(2020)10.1002/ajmg.c.31843

Top 11%

1.8DataRank

Top 11%49 citations

Melissa J. Reeves, Shaina Gagadam, Delphine Blain, Chelsea Bender, Cara Lwin +4 more

Papers

Driven by 74 papers — median percentile 86. Top paper: “Genetic testing for inherited eye conditions in over 6,000 individuals through the eyeGENE network”.

Genetic testing for inherited eye conditions in over 6,000 individuals through the eyeGENE network

American Journal of Medical Genetics Part C: Seminars in Medical Genetics(2020)10.1002/ajmg.c.31843

Top 11%

1.8DataRank

Top 11%49 citations

Melissa J. Reeves, Shaina Gagadam, Delphine Blain, Chelsea Bender, Cara Lwin +4 more

Genotype–phenotype associations in a large PRPH2‐related retinopathy cohort

Human Mutation(2020)10.1002/humu.24065

Top 13%

1.7DataRank

Top 13%41 citations

Kerry Goetz, Bin Guan, Ehsan Ullah, Delphine Blain, Wadih M. Zein +3 more

Building the mega single-cell transcriptome ocular meta-atlas

GigaScience(2021)10.1093/gigascience/giab061

Top 14%

1.5DataRank

Top 14%44 citations

Temesgen Fufa, Robert B. Hufnagel, David McGaughey, Vinay Swamy

Variants of LRP2 , encoding a multifunctional cell‐surface endocytic receptor, associated with hearing loss and retinal dystrophy

Clinical Genetics(2023)10.1111/cge.14312

N/A

0.477DataRank · unranked

23 citations

Rizwan Yousaf, Shoujun Gu, Sayaka Inagaki, Amy Turriff, Keith Pelstring +22 more

Building the Mega Single Cell Transcriptome Ocular Meta-Atlas

bioRxiv (Cold Spring Harbor Laboratory)(2021)10.1101/2021.03.26.437190

Top 46%

0.402DataRank

Top 46%8 citations

Temesgen Fufa, Robert B. Hufnagel, David McGaughey, Vinay Swamy

Predominant Founder Effect among Recurrent Pathogenic Variants for an X-Linked Disorder

Genes(2022)10.3390/genes13040675

N/A

0.380DataRank · unranked

4 citations

Elizabeth Geena Woo, Bin Guan, Ehsan Ullah, Eric Feng, Amy Turriff +5 more

Natural History of Visual Dysfunction in ABCA4 Retinopathy and Its Genetic Correlates

American Journal of Ophthalmology(2023)10.1016/j.ajo.2023.05.014

N/A

0.362DataRank · unranked

8 citations

Laryssa A. Huryn, Marisa Boyle, Catherine A. Cukras, Wadih M. Zein, Amy Turriff +5 more

Genotype–Phenotype Spectrum of eyeGENE Patients With Familial Exudative Vitreoretinopathy: Novel Variants in Norrin/β-Catenin Signaling Pathway Genes

Investigative Ophthalmology & Visual Science(2025)10.1167/iovs.66.2.9

Top 67%

0.169DataRank

Top 67%2 citations

Melissa Reeves, Sairah Yousaf, Ehsan Ullah, Bin Guan, Kerry Goetz +3 more

The qMini assay identifies an overlooked class of splice variants

medRxiv(2023)10.1101/2023.11.02.23297963

N/A

0.104DataRank · unranked

1 citations

Chelsea Bender, Madhulatha Pantrangi, Nia Moore, Melissa Reeves, Amelia Naik +10 more

Atypical and ultra-rare Usher syndrome: a review

Ophthalmic Genetics(2020)10.1080/13816810.2020.1747090

N/A

0DataRank · unranked

35 citations

Robert B. Hufnagel, Thomas B. Friedman, Amy Turriff, Carmen C. Brewer, Christopher Zalewski +6 more

A genetic and clinical study of individuals with nonsyndromic retinopathy consequent upon sequence variants in HGSNAT, the gene associated with Sanfilippo C mucopolysaccharidosis

American Journal of Medical Genetics Part C Seminars in Medical Genetics(2020)10.1002/ajmg.c.31822

N/A

0DataRank · unranked

28 citations

Malena Daich Varela, Anthony G. Robson, Karen Pierpoint, Rola Ba‐Abbad, Savita Nutan +12 more

The peroxisomal disorder spectrum and Heimler syndrome: Deep phenotyping and review of the literature

American Journal of Medical Genetics Part C Seminars in Medical Genetics(2020)10.1002/ajmg.c.31823

N/A

0DataRank · unranked

25 citations

Priyam Jani, Wadih M. Zein, Precilla D’Souza, Lynne A. Wolfe, Jennifer Chisholm +6 more

Novel progressive acrodysostosis‐like skeletal dysplasia, cerebellar atrophy, and ichthyosis

American Journal of Medical Genetics Part A(2020)10.1002/ajmg.a.61782

N/A

0DataRank · unranked

2 citations

Ehsan Ullah, Ángela M Martin, Robert B. Hufnagel, Carlos E. Prada, Harvy Velasco

Ocular genetics in the genomics age

American Journal of Medical Genetics Part C Seminars in Medical Genetics(2020)10.1002/ajmg.c.31844

N/A

0DataRank · unranked

4 citations

Tayebeh Rezaie, Robert B. Hufnagel, Gavin Arno, Michael A. Walter

Conserved Gsx2/Ind homeodomain monomer versus homodimer DNA binding defines regulatory outcomes in flies and mice

Genes & Development(2020)10.1101/gad.343053.120

N/A

0DataRank · unranked

35 citations

Shenyue Qin, Temesgen Fufa, Brittany Cain, Edward Farrow, Bin Guan +6 more

Introduction to the special issue on Ophthalmic Genetics: Vision in 2020

American Journal of Medical Genetics Part C Seminars in Medical Genetics(2020)10.1002/ajmg.c.31841

N/A

0DataRank · unranked

1 citations

Michael A. Walter, Gavin Arno, Robert B. Hufnagel

Response to Finsterer’s “Exclude hereditary and acquired differential disorders before attributing retinoschisis to Kears-Sayre syndrome”

Ophthalmic Genetics(2020)10.1080/13816810.2020.1832295

N/A

0DataRank · unranked

0 citations

Robert B. Hufnagel, Delphine Blain, Andrea Gropman, Brian P. Brooks, Julia Chertkof

Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss

The American Journal of Human Genetics(2021)10.1016/j.ajhg.2021.08.003

N/A

0DataRank · unranked

42 citations

Somayeh Bakhtiari, Ashley P.L. Marsh, Rauan Kaiyrzhanov, Matias Wagner, Sheetal Shetty +95 more

AMPK modulation ameliorates dominant disease phenotypes of CTRP5 variant in retinal degeneration

Communications Biology(2021)10.1038/s42003-021-02872-x

N/A

0DataRank · unranked

36 citations

Ruchi Sharma, Malika Nimmagadda, Katharina Clore-Gronenborn, Zoya Qureshy, Davide Ortolan +22 more

Active Cell Appearance Model Induced Generative Adversarial Networks for Annotation-Efficient Cell Segmentation and Identification on Adaptive Optics Retinal Images

IEEE Transactions on Medical Imaging(2021)10.1109/tmi.2021.3055483

N/A

0DataRank · unranked

22 citations

Christine Shen, Nancy Aguilera, Catherine A. Cukras, Robert B. Hufnagel, Wadih M. Zein +3 more

A Novel Variant of ATP5MC3 Associated with Both Dystonia and Spastic Paraplegia

Movement Disorders(2021)10.1002/mds.28821

N/A

0DataRank · unranked

22 citations

Michael Zech, Robert B. Hufnagel, Jesse Slone, Xinjian Wang, Shelli M. Homan +13 more

UBA2 variants underlie a recognizable syndrome with variable aplasia cutis congenita and ectrodactyly

Genetics in Medicine(2021)10.1038/s41436-021-01182-1

N/A

0DataRank · unranked

19 citations

Sairah Yousaf, James Liu, Wendy K. Chung, Lindsay Rhodes, Michael Marble +22 more

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

Frontiers in Aging Neuroscience(2021)10.3389/fnagi.2021.629214

N/A

0DataRank · unranked

12 citations

Tao Liu, Oliver Flynn, Amy Turriff, Zhuolin Liu, Ehsan Ullah +10 more

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

iScience(2021)10.1016/j.isci.2021.102960

N/A

0DataRank · unranked

15 citations

Karen M. Frank, José O. Maldonado, Margaret Beach, Eileen Pelayo, Blake M. Warner +2 more

Auditory and olfactory findings in patients with USH2A‐related retinal degeneration—Findings at baseline from the rate of progression in USH2A‐related retinal degeneration natural history study (RUSH2A)

American Journal of Medical Genetics Part A(2021)10.1002/ajmg.a.62437

N/A

0DataRank · unranked

10 citations

Carmen C. Brewer, Peiyao Cheng, Jacque L. Duncan, Maureen G. Maguire, Isabelle Audo +11 more

Clinical diagnosis of presumed SOX2 gonadosomatic mosaicism

Ophthalmic Genetics(2021)10.1080/13816810.2021.1888127

N/A

0DataRank · unranked

4 citations

Robert B. Hufnagel, Bin Guan, Delphine Blain, Julie C. Sapp, Andrea Gropman +5 more

Sensitive extraction-free SARS-CoV-2 RNA virus detection using a novel RNA preparation method

medRxiv(2021)10.1101/2021.01.29.21250790

N/A

0DataRank · unranked

6 citations

Karen M. Frank, José O. Maldonado, Margaret Beach, Eileen Pelayo, Blake M. Warner +2 more

Clinical and Histopathologic Correlates of Asymmetric Retinitis Pigmentosa

JAMA Ophthalmology(2021)10.1001/jamaophthalmol.2021.2688

N/A

0DataRank · unranked

0 citations

Zu‐Xi Yu, Bin Guan, Chelsea Bender, Chi‐Chao Chan, Catherine A. Cukras +2 more

Gain-of-function mutations in ALPK1 cause an NF-κB-mediated autoinflammatory disease: functional assessment, clinical phenotyping and disease course of patients with ROSAH syndrome

Annals of the Rheumatic Diseases(2022)10.1136/annrheumdis-2022-222629

N/A

0DataRank · unranked

70 citations

Shilpa Kodati, Laryssa A. Huryn, Hongying Wang, Blake M. Warner, Priyam Jani +95 more

Ophthalmic Manifestations of ROSAH (Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, and Headache) Syndrome, an Inherited NF κB–Mediated Autoinflammatory Disease with Retinal Dystrophy

Ophthalmology(2022)10.1016/j.ophtha.2022.10.026

N/A

0DataRank · unranked

35 citations

Christina Torres Kozycki, Jasmine Y. Serpen, Wadih M. Zein, Ehsan Ullah, Alessandro Iannaccone +8 more

Novel ophthalmic findings and deep phenotyping in Williams-Beuren syndrome

British Journal of Ophthalmology(2022)10.1136/bjophthalmol-2022-321103

N/A

0DataRank · unranked

23 citations

Taylor Flaherty, Rosalie Nolen, Lev Prasov, Wadih M. Zein, Catherine A. Cukras +8 more

Tissue‐specific genotype–phenotype correlations among USH2A‐related disorders in the RUSH2A study

Human Mutation(2022)10.1002/humu.24365

N/A

0DataRank · unranked

23 citations

Wendi Liang, Jacque L. Duncan, Carmen C. Brewer, Isabelle Audo, Allison R. Ayala +14 more

Rare and common variants in ROM1 and PRPH2 genes trans-modify Stargardt/ABCA4 disease

PLoS Genetics(2022)10.1371/journal.pgen.1010129

N/A

0DataRank · unranked

16 citations

Winston Lee, Jun Wang, Kerry Goetz, Ehsan Ullah, Takayuki Nagasaki +9 more

Widespread subclinical cellular changes revealed across a neural-epithelial-vascular complex in choroideremia using adaptive optics

Communications Biology(2022)10.1038/s42003-022-03842-7

N/A

0DataRank · unranked

16 citations

Tao Liu, Andrew J. Bower, Joanne Li, Sarah Abouassali, Rongwen Lu +20 more

A de novo hexokinase 1 (HK1) variant presenting as Boucher–Neuhäuser syndrome

American Journal of Medical Genetics Part A(2022)10.1002/ajmg.a.63045

N/A

0DataRank · unranked

6 citations

Wadih M. Zein, Robert B. Hufnagel, Christine W. Ku, Rena A. Godfrey, Lynne A. Wolfe +4 more

ABCA4c.859-25A>G, a Frequent Palestinian Founder Mutation Affecting the Intron 7 Branchpoint, Is Associated With Early-Onset Stargardt Disease

Investigative Ophthalmology & Visual Science(2022)10.1167/iovs.63.4.20

N/A

0DataRank · unranked

7 citations

Manar Salameh, Mubeen Khan, Elise Héon, Ketan Mishra, Rebekkah J. Hitti‐Malin +12 more

De novo frameshift mutation in YAP1 associated with bilateral uveal coloboma and microphthalmia

Ophthalmic Genetics(2022)10.1080/13816810.2022.2028299

N/A

0DataRank · unranked

5 citations

Bin Guan, Ehsan Ullah, Delphine Blain, Robert B. Hufnagel, Brian P. Brooks +1 more

Transcriptional mapping of the macaque retina and RPE-choroid reveals conserved inter-tissue transcription drivers and signaling pathways

Frontiers in Genetics(2022)10.3389/fgene.2022.949449

N/A

0DataRank · unranked

4 citations

David McGaughey, Congxiao Zhang, Sairah Yousaf, James H. Liu, Brian P. Brooks +4 more

Variable Anterior Segment Dysgenesis and Cardiac Anomalies Caused by a Novel Truncating Variant of FOXC1

Genes(2022)10.3390/genes13030411

N/A

0DataRank · unranked

4 citations

Saumil Sethna, Laura A. Krueger, Michael B. Yang, Robert B. Hufnagel, Mariya R. Ahmed

Long-Term Anatomic and Visual Outcomes of Planned Preterm Delivery and Treatment of Norrie Disease

Ophthalmic surgery, lasers & imaging retina(2022)10.3928/23258160-20220706-01

N/A

0DataRank · unranked

2 citations

Virginia Miraldi-Utz, Terry L. Schwartz, Robert B. Hufnagel, Zubair M. Ahmed, Robert A. Sisk

Transcriptional mapping of the macaque retina and RPE-choroid reveals conserved inter-tissue transcription drivers and signaling pathways

bioRxiv (Cold Spring Harbor Laboratory)(2022)10.1101/2022.01.21.477280

N/A

0DataRank · unranked

0 citations

David McGaughey, Congxiao Zhang, Sairah Yousaf, James H. Liu, Brian P. Brooks +4 more

Zfp503/Nlz2 is Required for RPE Differentiation and Optic Fissure Closure

bioRxiv (Cold Spring Harbor Laboratory)(2022)10.1101/2022.03.28.486078

N/A

0DataRank · unranked

0 citations

A. Thompson, Ramakrishna P. Alur, David McGaughey, Lijin Dong, Grace Shih +22 more

Compendium of Clinical Variant Classification for 2,246 Unique ABCA4 Variants to Clarify Variant Pathogenicity in Stargardt Disease Using a Modified ACMG/AMP Framework

Human Mutation(2023)10.1155/2023/6815504

N/A

0DataRank · unranked

20 citations

Miriam Bauwens, Lonneke Haer‐Wigman, Marieke De Bruyne, Madhulatha Pantrangi, Elfride De Baere +4 more

PNPLA6 disorders: what’s in a name?

Ophthalmic Genetics(2023)10.1080/13816810.2023.2254830

N/A

0DataRank · unranked

14 citations

Robert B. Hufnagel, J. Liu

Dynamic changes in ocular shape during human development and its implications for retina fovea formation

BioEssays(2023)10.1002/bies.202300054

N/A

0DataRank · unranked

6 citations

Andrew Wegerski, Paul A. Trainor, Robert B. Hufnagel, Douglas B. Menke, James D. Lauderdale +1 more

Genotype–Phenotype Association in ABCA4-Associated Retinopathy

Advances in experimental medicine and biology(2023)10.1007/978-3-031-27681-1_42

N/A

0DataRank · unranked

6 citations

Wadih M. Zein, Laryssa A. Huryn, Catherine A. Cukras, Brett G. Jeffrey, Robert B. Hufnagel +2 more

A Spontaneous Nonhuman Primate Model of Myopic Foveoschisis

Investigative Ophthalmology & Visual Science(2023)10.1167/iovs.64.1.18

N/A

0DataRank · unranked

9 citations

Sang-Bae Kim, Yumei Li, Jun Wang, Rui Chen, Sook Hyun Chung +14 more

Prenatal and infantile diagnosis of craniosynostosis in individuals with RASopathies

American Journal of Medical Genetics Part A(2023)10.1002/ajmg.a.63397

N/A

0DataRank · unranked

4 citations

April Vanderwal, Sarah E. Chadwell, A.I. Sánchez, Robert J. Hopkin, Robert B. Hufnagel +3 more

A novel variant affecting the cytoplasmic tail of the FAT1 protocadherin causing coloboma and renal failure: A case report

Ophthalmic Genetics(2023)10.1080/13816810.2022.2089360

N/A

0DataRank · unranked

0 citations

Ehsan Ullah, Delphine Blain, Julie Christensen, Carmen C. Brewer, James E. Balow +5 more

Expanding the genetic landscape of Usher syndrome type IV caused by pathogenic ARSG variants

Clinical Genetics(2024)10.1111/cge.14614

N/A

0DataRank · unranked

11 citations

Vincent De Man, Isabelle Audo, Irina Balikova, Wadih M. Zein, Vasily Smirnov +20 more

High Clinical Exome Sequencing Diagnostic Rates and Novel Phenotypic Expansions for Nonisolated Microphthalmia, Anophthalmia, and Coloboma

Investigative Ophthalmology & Visual Science(2024)10.1167/iovs.65.3.25

N/A

0DataRank · unranked

8 citations

Bailey A. Martin‐Giacalone, Xiaonan Zhao, Pamela N. Luna, Brian P. Brooks, Robert B. Hufnagel +6 more

The challenges and opportunities of offering and integrating training in clinical molecular genetics and clinical cytogenetics: A survey of LGG Fellowship Program Directors

Genetics in Medicine Open(2024)10.1016/j.gimo.2024.101820

N/A

0DataRank · unranked

2 citations

Vimla S. Aggarwal, A. Bale, Daniel B. Bellissimo, Jessica K. Booker, Yang Cao +30 more

Variants in NR6A1 cause a novel oculo-vertebral-renal (OVR) syndrome

medRxiv(2024)10.1101/2024.11.09.24316578

N/A

0DataRank · unranked

2 citations

Ehsan Ullah, Aman George, Mara I Maftei, Elangovan Elangovan, Daniel Sanchez-Mendoza +18 more

BOUCHER–NEUHAUSER SYNDROME: CHORIORETINAL CHANGES IN A SINGLE CASE OVER TIME

Retinal Cases & Brief Reports(2024)10.1097/icb.0000000000001556

N/A

0DataRank · unranked

0 citations

Jerome Sherman, S. J. Bass, James Liu, Robert B. Hufnagel, Lawrence A. Yannuzzi +1 more

OUTER RETINAL MICROCAVITATIONS IN RETINITIS PIGMENTOSA

Retina(2024)10.1097/iae.0000000000004091

N/A

0DataRank · unranked

0 citations

Laryssa A. Huryn, Robert B. Hufnagel, Ehsan Ullah, Aime Agather, Delphine Blain +4 more

Seeing in Color: Inclusion and Characterization of Hereditary Eye Disease in African Americans

Translational Vision Science & Technology(2024)10.1167/tvst.13.9.4

N/A

0DataRank · unranked

0 citations

Raisa Ionin, Laryssa A. Huryn, Catherine A. Cukras, Delphine Blain, Aime Agather +5 more

Variants in NR6A1 cause a novel oculo-vertebral-renal (OVR) syndrome

Research Square(2024)10.21203/rs.3.rs-5375105/v1

N/A

0DataRank · unranked

0 citations

Uma M Neelathi, Ehsan Ullah, Aman George, Mara I Maftei, Elangovan Boobalan +18 more

Variants in NR6A1 cause a novel oculo vertebral renal syndrome

Nature Communications(2025)10.1038/s41467-025-60574-y

N/A

0DataRank · unranked

8 citations

Ehsan Ullah, Aman George, Mara I Maftei, Elangovan Boobalan, Daniel Sanchez-Mendoza +18 more

Characterization of Visual Field Loss Over 4 Years in the Rate of Progression in USH2A-Related Retinal Degeneration (RUSH2A) Study

American Journal of Ophthalmology(2025)10.1016/j.ajo.2025.03.039

N/A

0DataRank · unranked

1 citations

Maureen G. Maguire, Lee S. McDaniel, Nicole R. Doucet, Isabelle Audo, Allison R. Ayala +17 more

A direct solubilization approach to purify active full-length human neuropathy target esterase

Protein Expression and Purification(2025)10.1016/j.pep.2025.106768

N/A

0DataRank · unranked

1 citations

Tongyi Dou, Jiansen Jiang, Yi He, Robert B. Hufnagel, James Liu

A zebrafish model of crim1 loss of function has small and misshapen lenses with dysregulated clic4 and fgf1b expression

Frontiers in Cell and Developmental Biology(2025)10.3389/fcell.2025.1522094

N/A

0DataRank · unranked

1 citations

Stephanie Htun, Manoj K. Pandey, Yihui Sun, Albert Frank Magnusen, Ehsan Ullah +9 more

Splicing variants in MYRF cause partial loss of function in the retinal pigment epithelium

bioRxiv (Cold Spring Harbor Laboratory)(2025)10.1101/2025.04.21.649840

N/A

0DataRank · unranked

1 citations

Michelle L. Brinkmeier, Bin Guan, Su Qing Wang, Catherine A. Tower, Nina T. Yang +8 more

Variants in CFAP410 cause a range of retinal and skeletal phenotypes

npj Genomic Medicine(2025)10.1038/s41525-025-00489-1

N/A

0DataRank · unranked

0 citations

Amy E. Pohodich, David G. Birch, Kaylie Webb-Jones, Byron L. Lam, Emily H. Jung +44 more

Case Report: Association of Ocular Colobomas With a Novel Missense Variant in CDC42, a Member of the Rho Family of Small GTPases

Clinical Genetics(2025)10.1111/cge.14768

N/A

0DataRank · unranked

0 citations

Nawaal Shinwari, Aleksey Porollo, Eniolami O. Dosunmu, Ehsan Ullah, Bin Guan +7 more

Generation of four human pluripotent stem cell lines harboring OPA1-related optic atrophy variant

Stem Cell Research(2025)10.1016/j.scr.2025.103766

N/A

0DataRank · unranked

0 citations

Sairah Yousaf, Bin Guan, Amelia Naik, Rafael Villasmil, Raymond Oh +5 more

FOXP4 Variants Are Associated With Plateau Iris and Angle Closure Glaucoma

Investigative Ophthalmology & Visual Science(2025)10.1167/iovs.66.9.23

N/A

0DataRank · unranked

0 citations

Su Qing Wang, Bin Guan, Seong Hoon Jeong, Chelsea Bender, Erika Ward +9 more

An international telemedicine program for diagnosis of genetic disorders: Partnership of pediatrician and geneticist

American Journal of Medical Genetics Part C Seminars in Medical Genetics(2020)10.1002/ajmg.c.31859

N/A

0DataRank · unranked

14 citations

Esperanza Mendoza, Maria Gomez Peña, C. Alexander Valencia, Ehsan Ullah, Robert B. Hufnagel +2 more

Systemic and ocular manifestations of a patient with mosaic ARID1A‐associated Coffin‐Siris syndrome and review of select mosaic conditions with ophthalmic manifestations

American Journal of Medical Genetics Part C Seminars in Medical Genetics(2020)10.1002/ajmg.c.31839

N/A

0DataRank · unranked

14 citations

Diana S. Brightman, M. A. Montes de Oca Sandoval, Robert B. Hufnagel, Howard M. Saal, Virginia Miraldi Utz

Expanding the genotypic spectrum of Jalili syndrome: Novel CNNM4 variants and uniparental isodisomy in a north American patient cohort

American Journal of Medical Genetics Part A(2020)10.1002/ajmg.a.61484

N/A

0DataRank · unranked

8 citations

Ehsan Ullah, Amy Turriff, Blake M. Warner, Julie A. Conley, Paul R. Mark +3 more

Ocular and Systemic Findings in Adults with Uveal Coloboma

Ophthalmology(2020)10.1016/j.ophtha.2020.05.028

N/A

0DataRank · unranked

14 citations

Laryssa A. Huryn, Robert B. Hufnagel, Wadih M. Zein, Delphine Blain, Brian P. Brooks +1 more

Retinoschisis associated with Kearns-Sayre syndrome

Ophthalmic Genetics(2020)10.1080/13816810.2020.1799416

N/A

0DataRank · unranked

8 citations

Robert B. Hufnagel, Delphine Blain, Andrea Gropman, Brian P. Brooks, Julia Chertkof

Ophthalmic genetics in South America

American Journal of Medical Genetics Part C Seminars in Medical Genetics(2020)10.1002/ajmg.c.31832

N/A

0DataRank · unranked

8 citations

René Moya, Patricio G. Schlottmann, Robert B. Hufnagel, Claudia Arberas, Federico Fernández +6 more

Baseline Visual Field Findings in the RUSH2A Study: Associated Factors and Correlation With Other Measures of Disease Severity

American Journal of Ophthalmology(2020)10.1016/j.ajo.2020.05.024

N/A

0DataRank · unranked

41 citations

Wendi Liang, Maureen G. Maguire, Isabelle Audo, Allison R. Ayala, David G. Birch +16 more

Novel TMEM98, MFRP, PRSS56 variants in a large United States high hyperopia and nanophthalmos cohort

Scientific Reports(2020)10.1038/s41598-020-76725-8

N/A

0DataRank · unranked

36 citations

Bin Guan, Ehsan Ullah, Steven M. Archer, Bernadete Ayres, Cagri G. Besirli +18 more

Robert B. Hufnagel

Indexed papers

Top data-sharing exemplar

Papers