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Puya Gharahkhani

QIMR Berghofer Medical Research Institute

47H-index
191Paper Count
6.9KCitation Count
Published Papers 90
Publication Date
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A Whole-Genome Sequence Genome-Wide Association Study in All of Us Identifies a Novel Glaucoma Risk Locus in African Individuals
errOphthalmology Science
IF4.6
err2026-06-23
err0
errOAAI
errInas F. Aboobakar; Lauren A. Cruz; Tyler G. Kinzy; Yuyang Luo; Sanjana Nallapaneni; Ron Do; Thi Ha Vy; Hetince Zhao; Jessica H. Tran; Pirro G. Hysi; Anthony P. Khawaja; Puya Gharahkhani; Louis R. Pasquale; Michael A. Hauser; Ayellet V. Segrè; Dana C. Crawford; Janey L. Wiggs; Jessica N. Cooke Bailey
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Multi-Ancestry, Multitrait Polygenic Risk Scores for Myopia: Improved Accuracy and Clinical Potential
errTwin Research and Human Genetics
IF1.2
err2026-04-01
err0
PREAI
errInsawang, Benyapa; Ni, Guiyan; Clark, Nicholas; Hewitt, Alex W.; Gharahkhani, Puya; Mackey, David A.; MacGregor, Stuart
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errSave
Exploring the Shared Genetic Architectures Between Primary Open-Angle Glaucoma and Visual Pathway Regions in the Brain
errINVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE
IF4.7
err2025-12-01
err0
errOAAI
errAman, Asma M.; MacGregor, Stuart; Diaz-Torres, Santiago; Gharahkhani, Puya
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errSave
A multitrait polygenic risk score for open-angle glaucoma stratifies risk of pigmentary glaucoma in pigment dispersion syndrome.
errOphthalmology Glaucoma
IF3.2
err2025-10-21
err0
PREAI
errAntonia Kolovos; Ayub Qassim; Henry Marshall; Thi Thi Nguyen; Joshua Schmidt; Mark M. Hassall; Victoria Tang; Giorgina Maxwell; John Landers; Richard Mills; Stewart Lake; Stuart Graham; Angela Schulz; Anna Galanopoulos; Robert J. Casson; Ivan Goldberg; Michael Coote; Stephen Best; Jed Lusthaus; Paul R. Healey; Leslie Burnett; Marc Töteberg-Harms; Erin A. Boese; Andrew E. Pouw; Puya Gharahkhani; Todd Scheetz; Alex W. Hewitt; Stuart MacGregor; Owen M. Siggs; Emmanuelle Souzeau; John H. Fingert; Jamie E. Craig
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errSave
Genomic structural equation Modeling analysis of glaucoma Endophenotypes: investigating genetic architecture and non-intraocular pressure mechanisms
errHUMAN MOLECULAR GENETICS
IF3.2
err2025-10-01
err0
PREAI
errMarzban, Maryam; Diaz-Torres, Santiago; Thorp, Jackson; Ong, Jue Sheng; Khawaja, Anthony P.; Hammond, Christopher J.; Hysi, Pirro G.; Pasquale, Louis R.; Kraft, Peter; Kang, Jae H.; Hewitt, Alex W.; Mackey, David A.; Craig, Jamie E.; Wiggs, Janey L.; MacGregor, Stuart; Gharahkhani, Puya
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Association of polygenic scores for glaucoma with measures of retinal ganglion cell integrity in young and older adults
errAmerican Journal of Ophthalmology
IF4.2
err2025-09-26
err0
PREAI
errSamantha Sze-Yee Lee; Santiago Diaz Torres; Gareth Lingham; Seyhan Yazar; Michael Hunter; Jamie E Craig; Alex W Hewitt; Stuart MacGregor; Puya Gharahkhani; David A Mackey
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errSave
Large-scale GWAS of strabismus identifies risk loci and provides support for a link with maternal smoking
errNature Communications
IF15.7
err2025-08-23
err0
errOAAI
errWeixiong He; Peter J. van der Most; Jue-Sheng Ong; Liang-Dar Hwang; Yeda Wu; Morten S. Magnø; Jelle Vehof; Kristi Krebs; Laura Mauring; Katrin Õunap; Erik Abner; Nicholas G. Martin; Denis Plotnikov; Chen Jiang; Ronald B. Melles; Puya Gharahkhani; Harold Snieder; Teele Palumaa; Kuldar Kaljurand; Jeremy A. Guggenheim; David A. Mackey; Elizabeth C. Engle; Hélène Choquet; Stuart MacGregor
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errSave
Evaluating Practical Approaches for Including MYOC Variants Alongside Common Variants for Genetics-Based Risk Stratification for Glaucoma
errAMERICAN JOURNAL OF OPHTHALMOLOGY
IF4.2
err2025-06-01
err0
PREAI
errLe, NQ; He, WX; Law, MH; Medland, SE; Mackey, DA; Hewitt, AW; Gharahkhani, P; Macgregor, S
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errSave
Reply
errOphthalmology Science
IF4.6
err2025-04-05
err0
errOAAI
errAbadh K. Chaurasia; Connor J. Greatbatch; Xikun Han; Puya Gharahkhani; David A. Mackey; Stuart MacGregor; Jamie E. Craig; Alex W. Hewitt
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errSave
Biologically targeted discovery-replication scan identifies GxG interaction in relation to risk of Barrett's esophagus and esophageal adenocarcinoma
errHUMAN GENETICS AND GENOMICS ADVANCES
IF3.6
err2025-04-01
err0
PREAI
errYan, Li; He, Qianchuan; Verma, Shiv P.; Zhang, Xu; Giel, Ann-Sophie; Maj, Carlo; Graz, Kathryn; Naderi, Elnaz; Chen, Jianhong; Ali, Mourad Wagdy; Gharahkhani, Puya; Shu, Xiang; Offit, Kenneth; Shah, Pari M.; Gerdes, Hans; Molena, Daniela; Srivastava, Amitabh; MacGregor, Stuart; BEACON Consortium, B. E. A. C. O. N. Consortium; Thieme, Rene; Vieth, Michael; Gockel, Ines; Vaughan, Thomas L.; Schumacher, Johannes; Buas, Matthew F.
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A Multitrait Open-Angle Glaucoma Polygenic Risk Score Stratifies Risk of Glaucoma Diagnosis and Severity in Eyes with Pseudoexfoliation
errOphthalmology
IF9.5
err2025-02-24
err0
errOAAI
errAntonia Kolovos; Ayub Qassim; Mark M. Hassall; Henry N. Marshall; Joshua Schmidt; Thi Thi Nguyen; Weixiong He; Sean Mullany; Georgina L. Hollitt; Ella C. Berry; Victoria Tang; Tiger Zhou; Stewart Lake; Richard Mills; John Landers; Robert J. Casson; Anna Galanopoulos; Stuart L. Graham; Angela Schulz; Paul R. Healey; Paul Mitchell; Ivan Goldberg; John Grigg; Jonathan Ruddle; David A. Mackey; Kathryn P. Burdon; Alex W. Hewitt; Mathias Seviiri; Puya Gharahkhani; Emmanuelle Souzeau; Owen M. Siggs; Stuart MacGregor; Jamie E. Craig
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errSave
Developing and validating a comprehensive polygenic risk score to enhance keratoconus risk prediction
errHUMAN MOLECULAR GENETICS
IF3.2
err2024-11-13
err0
PREAI
errHe, Weixiong; Vosa, Urmo; Palumaa, Teele; Ong, Jue-Sheng; Torres, Santiago Diaz; Hewitt, Alex W.; Mackey, David A.; Gharahkhani, Puya; Esko, Tonu; MacGregor, Stuart
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errSave
Uncovering genetic loci and biological pathways associated with age-related cataracts through GWAS meta-analysis
errNATURE COMMUNICATIONS
IF15.7
err2024-10-23
err0
errOAAI
errDiaz-Torres, Santiago; Lee, Samantha Sze-Yee; Garcia-Marin, Luis M.; Campos, Adrian I.; Lingham, Garreth; Ong, Jue-Sheng; Mackey, David A.; Burdon, Kathryn P.; Hunter, Michael; Dong, Xianjun; Macgregor, Stuart; Gharahkhani, Puya; Renteria, Miguel E.
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errSave
Polygenic Prediction of Keratoconus and its Measures: Cross-Sectional and Longitudinal Analyses in Community-Based Young Adults
errAMERICAN JOURNAL OF OPHTHALMOLOGY
IF4.2
err2024-09-01
err1
errOAAI
errLee, Samantha Sze-Yee; Diaz-Torres, Santiago; He, Weixiong; Yazar, Seyhan; Chan, Elsie; Chong, Elaine W.; Gharahkhani, Puya; Macgregor, Stuart; Lingham, Gareth; Mackey, David a.
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errSave
Highly Accurate and Precise Automated Cup-to-Disc Ratio Quanti fi cation for Glaucoma Screening
errOPHTHALMOLOGY SCIENCE
IF4.6
err2024-09-01
err1
errOAAI
errChaurasia, Abadh K.; Greatbatch, Connor J.; Han, Xikun; Gharahkhani, Puya; Mackey, David A.; MacGregor, Stuart; Craig, Jamie E.; Hewitt, Alex W.
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errSave
Macular structural integrity estimates are associated with Parkinson's disease genetic risk
errACTA NEUROPATHOLOGICA COMMUNICATIONS
IF5.7
err2024-08-13
err1
errOAAI
errDiaz-Torres, Santiago; Lee, Samantha Sze-Yee; Ogonowski, Natalia S.; Mackey, David A.; MacGregor, Stuart; Gharahkhani, Puya; Renteria, Miguel E.
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errSave
Integrating genetic regulation and single-cell expression with GWAS prioritizes causal genes and cell types for glaucoma
errNATURE COMMUNICATIONS
IF15.7
err2024-01-09
err10
errOAAI
errHamel, Andrew R.; Yan, Wenjun; Rouhana, John M.; Monovarfeshani, Aboozar; Jiang, Xinyi; Mehta, Puja A.; Advani, Jayshree; Luo, Yuyang; Liang, Qingnan; Rajasundaram, Skanda; Shrivastava, Arushi; Duchinski, Katherine; Mantena, Sreekar; Wang, Jiali; van Zyl, Tave; Pasquale, Louis R.; Swaroop, Anand; Gharahkhani, Puya; Khawaja, Anthony P.; MacGregor, Stuart; Chen, Rui; Vitart, Veronique; Sanes, Joshua R.; Wiggs, Janey L.; Segre, Ayellet V.
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Genome-Wide Meta-analysis Identifies Risk Loci and Improves Disease Prediction of Age-Related Macular Degeneration
errOPHTHALMOLOGY
IF9.5
err2024-01-01
err12
errOAAI
errHe, Weixiong; Han, Xikun; Ong, Jue-Sheng; Wu, Yeda; Hewitt, Alex W.; Mackey, David A.; Gharahkhani, Puya; Macgregor, Stuart
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errSave
Changes in Refractive Error During Young Adulthood: The Effects of Longitudinal Screen Time, Ocular Sun Exposure, and Genetic Predisposition
errINVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE
IF4.7
err2023-11-20
err5
errOAAI
errLee, Samantha Sze-Yee; Lingham, Gareth; Wang, Carol A.; Torres, Santiago Diaz; Pennell, Craig E.; Hysi, Pirro G.; Hammond, Christopher J.; Gharahkhani, Puya; Clark, Rosie; Guggenheim, Jeremy A.; Mackey, David A.
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No Strong Association between the Apolipoprotein E E4 Allele and Glaucoma A Multicohort Study
errOPHTHALMOLOGY SCIENCE
IF4.6
err2023-09-01
err4
errOAAI
errMullany, Sean; Diaz-Torres, Santiago; Schmidt, Joshua M.; Thomson, Daniel; Qassim, Ayub; Marshall, Henry N.; Knight, Lachlan S. W.; Berry, Ella C.; Kolovos, Antonia; Dimasi, David; Lake, Stewart; Mills, Richard A.; Landers, John; Mitchell, Paul; Healey, Paul R.; Commerford, Toby; Klebe, Sonja; Souzeau, Emmanuelle; Hassall, Mark M.; MacGregor, Stuart; Gharahkhani, Puya; Siggs, Owen M.; Craig, Jamie E.
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Research Directions

No research directions
Co-authors
Cooperation Journals
F
Frank B. Hu
H-index: 244 · Papers: 1.9K
C
Cornelia M. van Duijn
H-index: 238 · Papers: 1.9K
A
André G. Uitterlinden
H-index: 234 · Papers: 2.0K
R
Ronald Klein
H-index: 229 · Papers: 2.2K
P
Paul M. Ridker
H-index: 226 · Papers: 1.4K
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