Brian P. Brooks

National Institutes of Health

H指数:31

被引数:2,665

个人简介

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教育背景

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工作经历

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荣誉奖项

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

先天性脉络膜缺损患儿的发育状况及其与临床表型和遗传学的关系

American Journal of Ophthalmology

IF4.2

2025-11-150

PRE

Variants in CFAP410 cause a range of retinal and skeletal phenotypes

CFAP410基因的变异导致一系列视网膜和骨骼表型。

NPJ GENOMIC MEDICINE

IF4.8

2025-04-170

Schmidt, Ryan E.; Pohodich, Amy E.; Birch, David; Jones, Kaylie; Lam, Byron L.; Jung, Emily H.; Jain, Nieraj; Georgiou, Michalis; Mahroo, Omar A.; Webster, Andrew R.; Michaelides, Michel; Bakall, Benjamin; Iannaccone, Alessandro; Vincent, Ajoy; Parameswarappa, Deepika C.; Heon, Elise; Scholl, Hendrik P. N.; Janeschitz-Kriegl, Lucas; Traboulsi, Elias I.; Zein, Wadih; Brooks, Brian P.; Cukras, Catherine; Hufnagel, Robert; Aleman, Tomas S.; Sylla, Mohamed M.; Tsang, Stephen H.; Alabek, Michelle; Sahel, Jose; Gorin, Michael B.; van Genderen, Maria M.; Stingl, Katarina; Reith, Milda; Kohl, Susanne; Amaral, Rebeca Azevedo Souza; Sallum, Juliana Maria Ferraz; Vincent, Andrea L.; Hull, Sarah; Duncan, Jacque L.; Hanson, James V. M.; Tedeus, Matthias; Maggi, Jordi; Graf, Urs; Koller, Samuel; Berger, Wolfgang; Gerth-Kahlert, Christina; Marra, Molly; Everett, Lesley A.; Yang, Paul; Pennesi, Mark E.

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

GENETICS IN MEDICINE

IF6.2

2024-07-012

OAAI

D'Souza, Precilla; Farmer, Cristan; Johnston, Jean M.; Han, Sangwoo T.; Adams, David; Hartman, Adam L.; Zein, Wadih; Huryn, Laryssa A.; Solomon, Beth; King, Kelly; Jordan, Christopher P.; Myles, Jennifer; Nicoli, Elena-Raluca; Rothermel, Caroline E.; Algarin, Yoliann Mojica; Huang, Reyna; Quimby, Rachel; Zainab, Mosufa; Bowden, Sarah; Crowell, Anna; Buckley, Ashura; Brewer, Carmen; Regier, Debra S.; Brooks, Brian P.; Acosta, Maria T.; Baker, Eva H.; Vezina, Gilbert; Thurm, Audrey; Tifft, Cynthia J.

Mice with a Pax2 missense variant display impaired glomerular repair

AMERICAN JOURNAL OF PHYSIOLOGY-RENAL PHYSIOLOGY

IF3.4

2024-05-011

PRE

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

INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE

IF4.7

2024-03-192

OAAI

RPGR: Deep Phenotyping and Genetic Characterization With Findings Specific to the 3'-end of ORF15

INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE

IF4.7

2023-09-112

OAAI

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

AMERICAN JOURNAL OF OPHTHALMOLOGY

IF4.2

2023-09-013

OAAI

Trisomy 8-associated Autoinflammatory Disease (TRIAD) is Characterized by Dysregulated Myeloid Cells

JOURNAL OF IMMUNOLOGY

IF3.4

2023-05-011

Manthiram, Kalpana; Xu, Qin; Wu, Zhijie; Bowes, Mary; Gao, Shouguo; Oguz, Cihan; Elkahloun, Abdel; Kalsi, Shelley; Dulau-Florea, Alina; Romeo, Tina; Shi, Lihong; Cassini, Thomas; Deuitch, Natalie; Kirby, Martha; Anderson, Stacie; Bruns, Deborah; Ombrello, Amanda; Barron, Karyl; Remmers, Elaine; Donovan, Frank; Peterson, William; Cochran, Jill; Laxer, Ronald; Greenberg, Jessica; Zein, Wadih; Brooks, Brian; Perazzio, Sandro; Kone-Paut, Isabelle; Al-Mutiari, Nora; Thors, Valtyr Stefansson; Palmadottir, Johanna Guorun; Aeschlimann, Florence; Quartier, Pierre; Murphy, Karen; Chandrasekarappa, Settara; Torgerson, Troy; Schwartzberg, Pamela L.; Kastner, Daniel

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

ROSAH的眼科表现 (视网膜营养不良，视神经水肿，脾肿大，无汗和头痛) 综合征，一种遗传性NF KB介导的自身炎症性疾病，伴有视网膜营养不良

OPHTHALMOLOGY

IF9.5

2023-04-0110