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Journal articles

• D.E. Maconachie G, Hisaund M, Teli S, Mellors A, Mallory L, Seewoodharry M, Sheth V, Purohit R, McLean RJ, Kempton J , Farooq S et al (2026) . Eye, 1-8.
• Shenoy R, Samra GS, Sekhri R, Yoon H-J, Teli S, DeSilva I, Tu Z, Maconachie GDE & Thomas MG (2026) . Transl Vis Sci Technol, 15(2), 25.
• Hunt C, Yoon H-J, Lirio A, Coley K, Wang J, Shrine N, Shao J, Maconachie GDE, Tu Z, Zippin JH , Hysi PG et al (2025) . Investigative Ophthalmology & Visual Science, 66(12), 22.
• Sekhri R, Kuht HJ, Tu Z, Maconachie GDE, Shenoy R, Prakash E, Teli S, Rufai SR, Sarvananthan N, Islam T , Hisaund M et al (2025) . Scientific Reports, 15.
• Sultana M, Davis H, Maconachie G & Codina C (2025) . International Journal for Advancing Practice, 3(2), 71-77.
• Shenoy R, Maconachie GDE, Parida S, Tu Z, Aamir A, Chean CS, Roked A, Taylor M, Garratt G, Rufai S , Dawar B et al (2025) . Diagnostics, 15(6).
• Roychaudhury A, Lee Y, Choi T, Thomas MG, Khan TN, Yousaf H, Skinner C, Maconachie G, Crosier M, Horak H , Constantinescu CS et al (2024) . Annals of Neurology, 96(5), 914-931.
• Proudlock FA, Hisaund M, Maconachie G, Papageorgiou E, Manouchehrinia A, Dahlmann-Noor A, Khandelwal P, Self J, Beisse C, Gottlob I , Mellors A et al (2024) . The Lancet, 403(10438), 1766-1778.
• Lee H, Purohit R, Sheth V, Maconachie G, Tu Z, Thomas MG, Pilat A, McLean RJ, Proudlock FA & Gottlob I (2023) . American Journal of Ophthalmology, 245, 202-211.
• Kuht HJ, McLean RJ, Aamir A, Maconachie GDE, Gottlob I & Thomas MG (2023) . Journal of Neuro-Ophthalmology, 43(4), e313-e315.
• Kuht HJ, Maconachie GDE, Han J, Kessel L, van Genderen MM, McLean RJ, Hisaund M, Tu Z, Hertle RW, Gronskov K , Bai D et al (2022) . Ophthalmology, 129(6), 708-718.
• Thomas MG, Maconachie GDE, Kuht HJ, Chan W-M, Sheth V, Hisaund M, McLean RJ, Barry B, Al-Diri B, Proudlock FA , Tu Z et al (2021) . International Journal of Molecular Sciences, 22(5).
• Dawar B, Kuht HJ, Han J, Maconachie GDE & Thomas MG (2021) . European Journal of Human Genetics, 29(10), 1584-1588.
• Liu S, Kuht HJ, Moon EH, Maconachie GDE & Thomas MG (2021) . Survey of Ophthalmology, 66(2), 362-377.
• Kuht HJ, Thomas KA, Hisaund M, Maconachie GDE & Thomas MG (2021) . Journal of Neuro-Ophthalmology, 41(3), e293-e296.
• Kuht HJ, Han J, Maconachie GDE, Park SE, Lee S-T, McLean R, Sheth V, Hisaund M, Dawar B, Sylvius N , Mahmood U et al (2020) . Human Molecular Genetics, 29(18), 2989-3002.
• Whitman MC, Di Gioia SA, Chan W-M, Gelber A, Pratt BM, Bell JL, Collins TE, Knowles JA, Armoskus C, Pato M , Pato C et al (2020) . Investigative Opthalmology & Visual Science, 61(10), 22-22.
• Ansell K, Maconachie G & Bjerre A (2020) . British and Irish Orthoptic Journal, 16(1), 19-24.
• Thomas MG, Maconachie GDE, Constantinescu CS, Chan W-M, Barry B, Hisaund M, Sheth V, Kuht HJ, Dineen RA, Harieaswar S , Engle EC et al (2020) . British Journal of Ophthalmology, 104(4), 547-550.
• Mayer AK, Mahajnah M, Thomas MG, Cohen Y, Habib A, Schulze M, Maconachie GDE, AlMoallem B, De Baere E, Lorenz B , Traboulsi EI et al (2019) . Brain, 142(6), 1528-1534.
• Papageorgiou E, Asproudis I, Maconachie G, Tsironi EE & Gottlob I (2019) . Graefe's Archive for Clinical and Experimental Ophthalmology, 257(6), 1061-1078.
• Shaaban S, MacKinnon S, Andrews C, Staffieri SE, Maconachie GDE, Chan W-M, Whitman MC, Morton SU, Yazar S, MacGregor S , Elder JE et al (2018) . Investigative Opthalmology & Visual Science, 59(10), 4054-4054.
• Seewoodharry MD, Maconachie GDE, Gillies CL, Gottlob I & McLean RJ (2017) . American Journal of Preventive Medicine, 53(2), 232-240.
• Thomas MG, Maconachie GDE, Sheth V, McLean RJ & Gottlob I (2017) . European Journal of Human Genetics, 25(6), 725-734.
• Maconachie GDE, Farooq S, Bush G, Kempton J, Proudlock FA & Gottlob I (2016) . JAMA Ophthalmology, 134(12), 1347-1347.
• Pilat A, McLean RJ, Proudlock FA, Maconachie GDE, Sheth V, Rajabally YA & Gottlob I (2016) . Investigative Opthalmology & Visual Science, 57(10), 4420-4420.
• Patel A, Purohit R, Lee H, Sheth V, Maconachie G, Papageorgiou E, McLean RJ, Gottlob I & Proudlock FA (2016) . Ophthalmology, 123(10), 2147-2157.
• McLean RJ, Maconachie GDE, Gottlob I & Maltby J (2016) . Ophthalmology, 123(9), 2023-2027.
• Park JG, Tischfield MA, Nugent AA, Cheng L, Di Gioia SA, Chan W-M, Maconachie G, Bosley TM, Summers CG, Hunter DG , Robson CD et al (2016) . The American Journal of Human Genetics, 98(6), 1220-1227.
• Maconachie GDE & Gottlob I (2015) . Biomedical Journal, 38(6), 510-516.
• Lee H, Purohit R, Patel A, Papageorgiou E, Sheth V, Maconachie G, Pilat A, McLean RJ, Proudlock FA & Gottlob I (2015) . Investigative Opthalmology & Visual Science, 56(8), 4537-4537.
• Lee H, Purohit R, Sheth V, Papageorgiou E, Maconachie G, McLean RJ, Patel A, Pilat A, Anwar S, Sarvanathan N , Proudlock FA et al (2015) . The Lancet, 385, S14-S14.
• Gottlob I, Pilat A, McLean R, Maconachie G, Sheth V, Rajabally Y & Proudlock F (2014) . Neurology, 82(10_supplement).
• Thomas MG, Crosier M, Lindsay S, Kumar A, Araki M, Leroy BP, McLean RJ, Sheth V, Maconachie G, Thomas S , Moore AT et al (2014) . Human Molecular Genetics, 23(15), 4086-4093.
• Lee H, Sheth V, Bibi M, Maconachie G, Patel A, McLean RJ, Michaelides M, Thomas MG, Proudlock FA & Gottlob I (2013) . Ophthalmology, 120(12), 2714-2724.
• Gottlob I, Pilat A, McLean R, Sheth V, Maconachie G, Rajabally Y & Proudlock FA (2013) . Journal of the Neurological Sciences, 333, e134-e135.
• Maconachie GDE, Gottlob I & McLean RJ (2013) . JAMA Ophthalmology, 131(9), 1179-1179.
• Sheth V, Gottlob I, Mohammad S, McLean RJ, Maconachie GDE, Kumar A, Degg C & Proudlock FA (2013) . Ophthalmology, 120(10), 2082-2090.
• Thomas MG, Gottlob I, McLean RJ, Maconachie G, Kumar A & Proudlock FA (2011) . Investigative Opthalmology & Visual Science, 52(11), 8156-8156.
• Griffiths HJ, Maconachie G & Buckley D (2010) The effect of Fresnel prisms on dynamic visual acuity.. British and Irish Orthoptic Journal, 7, 49-53.
• Thomas MG, Maconachie G, Hisaund M & Gottlob I (1993) FRMD7-Related Infantile Nystagmus.
• Aamir A, Kuht HJ, McLean RJ, Maconachie GDE, Sheth V, Dawar B, Purohit R, Sylvius N, Hisaund M, Zubcov-Iwantscheff A , Proudlock FA et al () . Scientific Reports, 11(1).

Conference proceedings

• Hunt C, Yoon H-J, Lirio A, Coley K, Wang J, Shrine N, Shao J, Maconachie GDE, Tu Z, Zippin JH , Hysi PG et al (2025) . Early Career Researcher – Paper Presentation (pp A2.3-A3)
• Rodwell V, McLean R, Hisaund M, Garratt G, Han J, Smirnov V, Hertle R, Self J, Chen F, Maconachie G , Tu Z et al (2025) . Early Career Researcher – Poster Presentation (pp A6.1-A6)
• Shenoy R, Maconachie GDE, Parida S, Tu Z, Aamir A, Chean CS, Taylor M, Garratt G, Rufai S, Dawar B , Isherwood S et al (2025) LEVEL OF EXPERIENCE OF OPHTHALMOLOGISTS AND OPHTHALMIC HEALTH PROFESSIONALS IMPACTS IDENTIFICATION OF FOVEAL HYPOPLASIA. EYE, Vol. 39 (pp 298-298)
• Rufai SR, Hisaund M, McLean RJ, Purohit R, Maconachie G, Sheth V, Lee H, Proudlock FA, Gottlob I & Thomas MG (2025) PREDICTION OF LONG-TERM VISUAL OUTCOMES IN INFANTILE NYSTAGMUS USING HANDHELD OCT: A 12-YEAR LONGITUDINAL STUDY. EYE, Vol. 39 (pp 301-301)
• Rufai S, Hisaund M, McLean RJ, Purohit R, Maconachie G, Sheth V, Lee H, Proudlock FA, Gottlob I & Thomas MG (2025) Prediction of long-term visual outcomes in infantile nystagmus using handheld OCT: a 12-year longitudinal study. INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, Vol. 66(8)
• Rodwell V, McLean R, Hisaund M, Garratt G, Han J, Smirnov V, Hertle RW, Self JE, Chen FK, Maconachie G , Tu Z et al (2025) Phenotypic Spectrum of Congenital Stationary Night Blindness: Associations with Foveal Hypoplasia, Nystagmus, and Myopia-A Multicentre Study. INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, Vol. 66(8)
• Hunt C, Yoon H-J, Tu Z, Patil M, Varma G, Han J, Kuht H, Maconachie G, Norton W, Wang J , Zuo Z et al (2024) Genome-wide Association Study of Foveal Hypoplasia. INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, Vol. 65(7)
• Wong B, Maconachie GDE, Tu Z, Han J, Vasudevan P, Gottlob I & Thomas MG (2024) Exploring Variable Penetrance in Females with X-Linked Retinal Disorders. INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, Vol. 65(7)
• Tu Z, Reddy N, Kuht H, Maconachie GDE, Han J, Kessel L, Jin J, Yoon H-J, Hunt C, Pani P , Purohit RS et al (2024) International Multi -Centre Validation of Unsupervised Domain Adaptation for Precise Discrimination between Normal and Abnormal Retinal Development. INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, Vol. 65(7)
• Aamir A, Kuht H, Han J, van Genderen MM, Maconachie G, McLean R, Tu Z, Sheth V, Hertle RW, Kessel L , Brooks B et al (2022) Phenotypic Characteristics as a Diagnostic Tool for Albinism: Sensitivity and Specificity Analysis. INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, Vol. 63(7)
• Thomas MG, Kuht H, Han J, Maconachie G, McLean R, Tu Z, Sheth V, Tobin M, Brooks BP, Engle E & Gottlob I (2022) Truncating PAX6 mutations result in severe arrested retinal development with loss of cone photoreceptor specialisation: A multi-centre study. INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, Vol. 63(7)
• Kuht HJ, Nishad G, Wang SS-H, Maconachie G, Sheth V, Tu Z, Hisaund M, McLean RJ, Purohit R, Teli S , Proudlock FA et al (2021) A machine learning solution to predict foveal development and visual prognosis in retinal developmental disorders. INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, Vol. 62(8)
• Thomas MG, Kuht HJ, Han J, Sheth V, Maconachie G, Hisaund M, McLean RJ, Purohit R, Tu Z, Park SE , Lee S-T et al (2021) Genotypic and phenotypic spectrum of foveal hypoplasia. INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, Vol. 62(8)
• Kuht H, Wang S, Nishad G, George S, Maconachie G, Sheth V, Tu Z, Hisaund M, McLean R, Teli S , Proudlock F et al (2020) Using Artificial Intelligence (AI) to Classify Retinal Developmental Disorders. INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, Vol. 61(7)
• Thomas MG, Maconachie G, McLean R, Kuht H, Sheth V, Hisaund M, Parida S, Aamir A, Proudlock FA & Gottlob I (2020) Whole Genome Sequencing in Infantile Nystagmus. INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, Vol. 61(7)
• Thomas MG, Maconachie G, Chan W-M, Sheth V, McLean R, Purohit R, Hisaund M, Barrry B, Proudlock FA, Engle E & Gottlob I (2018) Optic Nerve Head Abnormalities Associated with Congenital Fibrosis of Extraocular Muscles. INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, Vol. 59(9)
• Thomas MG, Sheth V, Maconachie G, Ather S, McLean RJ, Proudlock FA, Kohl S, Leroy BP, Moore AT & Gottlob I (2017) Comparison of retinal development in idiopathic infantile nystagmus and nystagmus associated with albinism, PAX6 mutations and achromatopsia.. INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, Vol. 58(8)
• Park JG, Tischfield MA, Nugent AA, Cheng L, Di Gioia SA, Chan W-M, Maconachie G, Bosley TM, Summers G, Hunter DG , Robson CD et al (2016) Disrupting Abducens Nerve Development Causes Duane Retraction Syndrome. ANNALS OF NEUROLOGY, Vol. 80 (pp S43-S43)
• Lee H, Purohit R, Sheth V, Maconachie G, Pilat A, McLean R, Proudlock FA & Gottlob I (2016) Retinal Development in Albinism: Evidence for Residual Plasticity in Early Childhood?. INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, Vol. 57(12)
• Maconachie G, Thomas MG, Constantinescu C, Sheth V, McLean R & Gottlob I (2016) Genetic screening using next generation sequencing in an atypical presentation of episodic ataxia with dominant inheritance.. INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, Vol. 57(12)
• Thomas MG, Maconachie G, Sheth V & Gottlob I (2016) A novel diagnostic next generation sequencing panel for infantile nystagmus. INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, Vol. 57(12)
• Lee H, Purohit R, Sheth V, McLean RJ, Maconachie G, Kohl S, Leroy BP, Michaelides M, Proudlock FA & Gottlob I (2015) Retinal Development in Achromatopsia: A Prospective Study of Infants and Young Children using Optical Coherence Tomography. INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, Vol. 56(7)
• Dr P, Purohit R, Lee H, Sheth V, Maconachie G, Papageorgiou E, Proudlock FA, McLean RJ & Gottlob I (2014) Characteristics of Normal Optic Nerve Development Using Hand-Held Ultra-High Resolution Spectral Domain Optical Coherence Tomography in Children and Young Adults.. INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, Vol. 55(13)
• Purohit R, Lee H, Patel A, Sheth V, Maconachie G, Papageorgiou E, McLean RJ, Gottlob I & Proudlock FA (2014) The developing optic nerve head in infantile idiopathic nystagmus and nystagmus associated to albinism. INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, Vol. 55(13)
• Maconachie G, Sheth V, Purohit R, Lee H, Proudlock FA & Gottlob I (2014) Exploring retinal development of strabismic infants using handheld optical coherence tomography. INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, Vol. 55(13)
• Lee H, Purohit R, Patel A, Papageorgiou E, Bibi M, Sheth V, Maconachie G, McLean R, Proudlock FA & Gottlob I (2014) Characteristics of Normal Foveal Development in Infants and Young Children as Imaged Using Hand-Held Optical Coherence Tomography. INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, Vol. 55(13)
• Thomas M, Sheth V, McLean R, Proudlock F, Maconachie G, Kohl S, Chan W-M, Andrews C, Engle E & Gottlob I (2013) Genotype-retinal phenotype correlations in infantile nystagmus. INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, Vol. 54(15)
• Patel A, Lee H, Sheth V, Maconachie G, Proudlock F, McLean R, Anwar S, Fawke J & Gottlob I (2013) Characteristics of Optic Nerve Development Using Hand-Held Ultra-High Resolution Spectral Domain Optical Coherence Tomography in Premature and Full-term Neonates. INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, Vol. 54(15)
• Lee H, Sheth V, Bibi M, Maconachie G, Patel A, Proudlock F, McLean R, Michaelides M, Thomas M & Gottlob I (2013) Characteristics of Infantile Nystagmus using Hand-Held Ultra-High Resolution Spectral Domain Optical Coherence Tomography in Infants and Small Children. INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, Vol. 54(15)

Preprints

• Shenoy R, Samra GS, Sekhri R, Yoon H-J, Teli S, DeSilva I, Tu Z, Maconachie GDE & Thomas MG (2025) , Cold Spring Harbor Laboratory.
• Hunt C, Yoon H-J, Lirio A, Coley K, Wang J, Shrine N, Shao J, Maconachie GDE, Tu Z, Zippin JH , Hysi PG et al (2025) , Cold Spring Harbor Laboratory.
• Kim C-H, Lee Y-R, Thomas M, Roychaudhury A, Skinner C, Maconachie G, Crosier M, Horak H, Constantinescu C, Choi T-I , Kyung J-J et al (2023) , Springer Science and Business Media LLC.