Brian P. Brooks

ORCID: 0000-0002-1916-7551

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 100%percentile

0Author DataRank

Indexed papers

0in pilot corpus

datarank_citation_only_1hop_v6· scope data_onlyMethodology

Papers

Driven by 35 papers. Top paper: “GM1 gangliosidosis type II: Results of a 10-year prospective study”.

GM1 gangliosidosis type II: Results of a 10-year prospective study

Genetics in Medicine(2024)10.1016/j.gim.2024.101144

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0.557DataRank · unranked

19 citations

Cristan Farmer, Jean M. Johnston, Sangwoo T. Han, David Adams, Adam L. Hartman +24 more

In vitro modeling and rescue of ciliopathy associated with IQCB1/NPHP5 mutations using patient-derived cells

Stem Cell Reports(2022)10.1016/j.stemcr.2022.08.006

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0.510DataRank · unranked

29 citations

Zepeng Qu, Emily Welby, Hiroko Shimada, Suja Hiriyanna, Milton A. English +4 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

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0.425DataRank · unranked

16 citations

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

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0.362DataRank · unranked

8 citations

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

Variants in NR6A1 cause a novel oculo vertebral renal syndrome

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

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0.356DataRank · unranked

8 citations

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

The qMini assay identifies an overlooked class of splice variants

medRxiv(2023)10.1101/2023.11.02.23297963

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0.104DataRank · unranked

1 citations

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

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

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0DataRank · unranked

0 citations

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

Gene Therapy of Dominant CRX-Leber Congenital Amaurosis using Patient Stem Cell-Derived Retinal Organoids

Stem Cell Reports(2021)10.1016/j.stemcr.2020.12.018

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0DataRank · unranked

120 citations

Zepeng Qu, James L. Gentry, Benjamin R. Fadl, Linn Gieser, Suja Hiriyanna +9 more

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

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

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0DataRank · unranked

12 citations

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

The evolving role of genetics in ophthalmology

Ophthalmic Genetics(2021)10.1080/13816810.2020.1868011

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0DataRank · unranked

9 citations

Brian P. Brooks, Arlene V. Drack, Suma P. Shankar, Natario L. Couser

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

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0DataRank · unranked

70 citations

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

Novel ophthalmic findings and deep phenotyping in Williams-Beuren syndrome

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

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0DataRank · unranked

23 citations

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

Identification of 4 novel human ocular coloboma genes ANK3, BMPR1B, PDGFRA, and CDH4 through evolutionary conserved vertebrate gene analysis

Genetics in Medicine(2022)10.1016/j.gim.2021.12.014

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0DataRank · unranked

13 citations

Maria Toms, Rodrigo Young, Jonathan Eintracht, Hajrah Sarkar, Brian P. Brooks +70 more

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

Ophthalmic Genetics(2022)10.1080/13816810.2022.2028299

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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

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0DataRank · unranked

4 citations

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

Zebrafish model of RERE syndrome recapitulates key ophthalmic defects that are rescued by small molecule inhibitor of shh signaling

Developmental Dynamics(2022)10.1002/dvdy.561

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0DataRank · unranked

2 citations

Jerry Lee, James Liu, Suzie Kim, Brian P. Brooks, Aman George

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

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

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0DataRank · unranked

0 citations

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

Genotype–Phenotype Association in ABCA4-Associated Retinopathy

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

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0DataRank · unranked

6 citations

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

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0DataRank · unranked

0 citations

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

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0DataRank · unranked

8 citations

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

GM1 Gangliosidosis Type II: Results of a 10-Year Prospective Study

medRxiv(2024)10.1101/2024.01.04.24300778

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0DataRank · unranked

5 citations

Cristan Farmer, Jean M. Johnston, Sangwoo T. Han, David R. Adams, Adam L. Hartman +23 more

OUTER RETINAL MICROCAVITATIONS IN RETINITIS PIGMENTOSA

Retina(2024)10.1097/iae.0000000000004091

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0DataRank · unranked

0 citations

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

Artificial intelligence assisted clinical fluorescence imaging achieves in vivo cellular resolution comparable to adaptive optics ophthalmoscopy

Communications Medicine(2025)10.1038/s43856-025-00803-z

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0DataRank · unranked

5 citations

Jianfei Liu, Vineeta Das, Hong Le, Nancy Aguilera, Andrew J. Bower +11 more

Cone Rod Homeobox ( CRX ): literature review and new insights

Ophthalmic Genetics(2025)10.1080/13816810.2025.2458086

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0DataRank · unranked

4 citations

Anand Swaroop, Kamil Kruczek, Ehsan Ullah, Brian P. Brooks, Arnold Leigh

Electroretinography With the RM Electrode: Normative Reference Ranges, Variation With Age, and Comparison With the Burian–Allen Electrode

Translational Vision Science & Technology(2025)10.1167/tvst.14.6.13

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0DataRank · unranked

1 citations

Xueyang Yin, Christina Appleman, Sobany Suy, Anna Papadogiannis, Daniel Claus +5 more

Advances in machine learning for ABCA4-related retinopathy: segmentation and phenotyping

International Ophthalmology(2025)10.1007/s10792-025-03690-4

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0DataRank · unranked

2 citations

Brian P. Brooks, Brett G. Jeffrey, Benjamin D. Solomon, Melissa A Haendel, Yousif J. Shwetar

Variants in CFAP410 cause a range of retinal and skeletal phenotypes

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

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0DataRank · unranked

0 citations

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

Genetics of syndromic ocular coloboma: CHARGE and COACH syndromes

Experimental Eye Research(2020)10.1016/j.exer.2020.107940

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0DataRank · unranked

50 citations

Tiziana Cogliati, Brian P. Brooks, Aman George

The Developmental Landscape of Children With Uveal Coloboma and Its Relationship With Clinical Phenotype and Genetics

American Journal of Ophthalmology(2025)10.1016/j.ajo.2025.11.011

N/A

0DataRank · unranked

0 citations

Alexandra T. Hehn, Delphine Blain, Cristan Farmer, Lisa Joseph, Edythe Wiggs +5 more

Chromoanasynthesis as a cause of Jacobsen syndrome

American Journal of Medical Genetics Part A(2020)10.1002/ajmg.a.61824

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0DataRank · unranked

15 citations

Audrey Thurm, Sandra Burkett, Daniel Velez, Elena Cho, Colby Chlebowski +9 more

Ocular and Systemic Findings in Adults with Uveal Coloboma

Ophthalmology(2020)10.1016/j.ophtha.2020.05.028

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0DataRank · unranked

14 citations

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

A novel frameshift mutation in SOX10 causes Waardenburg syndrome with peripheral demyelinating neuropathy, visual impairment and the absence of Hirschsprung disease

American Journal of Medical Genetics Part A(2020)10.1002/ajmg.a.61542

N/A

0DataRank · unranked

8 citations

Kyle E. Reichard, Lynne A. Wolfe, Brian P. Brooks, John J. DiGiovanna, Donald W. Hadley +7 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

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0DataRank · unranked

36 citations

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

The vitamin B12 processing enzyme, mmachc, is essential for zebrafish survival, growth and retinal morphology

Human Molecular Genetics(2020)10.1093/hmg/ddaa044

N/A

0DataRank · unranked

31 citations

Nathan P. Achilly, Madeline L. Arnold, Jerrel L. Catlett, Trevor Blake, Kevin Bishop +11 more