Thomas Bosley

Professor

1978 …2019

Research output per year

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Research Output

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2019

Decreased ACKR3 (CXCR7) function causes oculomotor synkinesis in mice and humans

Whitman, M. C., Miyake, N., Nguyen, E. H., Bell, J. L., Matos Ruiz, P. M., Chan, W. M., Di Gioia, S. A., Mukherjee, N., Barry, B. J., Bosley, T. M., Khan, A. O. & Engle, E. C., Sep 1 2019, In : Human molecular genetics. 28, 18, p. 3113-3125 13 p.

Research output: Contribution to journalArticle

2018

NEW OBSERVATIONS REGARDING THE RETINOPATHY OF GENETICALLY CONFIRMED KEARNS-SAYRE SYNDROME

Kozak, I., Oystreck, D. T., Abu-Amero, K. K., Nowilaty, S. R., Alkhalidi, H., Elkhamary, S. M., Mohamed, S., Hamad, M. H. A., Salih, M. A., Blakely, E. L., Taylor, R. W. & Bosley, T., Sep 1 2018, In : Retinal cases & brief reports. 12, 4, p. 349-358 10 p.

Research output: Contribution to journalArticle

2017

Biallelic mutations in human DCC cause developmental split-brain syndrome

Jamuar, S. S., Schmitz-Abe, K., D'Gama, A. M., Drottar, M., Chan, W. M., Peeva, M., Servattalab, S., Lam, A. T. N., Delgado, M. R., Clegg, N. J., Zayed, Z. A., Dogar, M. A., Alorainy, I. A., Jamea, A. A., Abu-Amero, K., Griebel, M., Ward, W., Lein, E. S., Markianos, K., Barkovich, A. J. & 6 others, Robson, C. D., Grant, P. E., Bosley, T. M., Engle, E. C., Walsh, C. A. & Yu, T. W., Mar 30 2017, In : Nature genetics. 49, 4, p. 606-612 7 p.

Research output: Contribution to journalArticle

Clinicopathological features of peripheral nerve sheath tumors involving the eye and ocular adnexa

Zhang, M. L., Suarez, M. J., Bosley, T. M. & Rodriguez, F. J., May 1 2017, In : Human pathology. 63, p. 70-78 9 p.

Research output: Contribution to journalArticle

Relative Frequencies of Arteritic and Nonarteritic Anterior Ischemic Optic Neuropathy in an Arab Population

Gruener, A. M., Chang, J. R., Bosley, T., Al-Sadah, Z. M., Kum, C. & McCulley, T. J., Jan 17 2017, (Accepted/In press) In : Journal of Neuro-Ophthalmology.

Research output: Contribution to journalArticle

2016

Central Retinal Vein Occlusion in a Childhood Optic Nerve Tumour

Kozak, I., Elkhamary, S. M. & Bosley, T. M., Jan 2 2016, In : Neuro-Ophthalmology. 40, 1, p. 42-48 7 p.

Research output: Contribution to journalArticle

Coats-like retinopathy in Joubert syndrome

Abouammoh, M. A., Al-Shibani, S. K., Alhawwas, A. & Bosley, T., Aug 1 2016, In : Journal of AAPOS. 20, 4, p. 372-374 3 p.

Research output: Contribution to journalArticle

Duane retraction syndrome in a patient with Duchenne muscular dystrophy

Bosley, T. M., Salih, M. A., Alkhalidi, H., Oystreck, D. T., El Khashab, H. Y., Kondkar, A. A. & Abu-Amero, K. K., Jul 2 2016, In : Ophthalmic genetics. 37, 3, p. 276-280 5 p.

Research output: Contribution to journalArticle

Loss of MAFB Function in Humans and Mice Causes Duane Syndrome, Aberrant Extraocular Muscle Innervation, and Inner-Ear Defects

Park, J. G., Tischfield, M. A., Nugent, A. A., Cheng, L., Di Gioia, S. A., Chan, W. M., Maconachie, G., Bosley, T. M., Summers, C. G., Hunter, D. G., Robson, C. D., Gottlob, I. & Engle, E. C., Jun 2 2016, In : American journal of human genetics. 98, 6, p. 1220-1227 8 p.

Research output: Contribution to journalArticle

Retinal Dysfunction in Patients with Congenital Fibrosis of the Extraocular Muscles Type 2

Khan, A. O., Almutlaq, M., Oystreck, D. T., Engle, E. C., Abu-Amero, K. & Bosley, T., Apr 2 2016, In : Ophthalmic genetics. 37, 2, p. 130-136 7 p.

Research output: Contribution to journalArticle

Spectrum of MRI findings in 58 patients with methanol intoxication: Long-term visual and neurological correlation

Elkhamary, S. M., Fahmy, D. M., Galvez-Ruiz, A., Asghar, N. & Bosley, T., Sep 1 2016, In : Egyptian Journal of Radiology and Nuclear Medicine. 47, 3, p. 1049-1055 7 p.

Research output: Contribution to journalArticle

The genetics of nonsyndromic bilateral Duane retraction syndrome

Abu-Amero, K. K., Khan, A. O., Oystreck, D. T., Kondkar, A. A. & Bosley, T., Oct 1 2016, In : Journal of AAPOS. 20, 5, p. 396-400.e2

Research output: Contribution to journalArticle

2015

CCDD Phenotype Associated with a Small Chromosome 2 Deletion

Abu-Amero, K. K., Bosley, T. M., Kondkar, A. A., Oystreck, D. T. & Khan, A. O., Nov 2 2015, In : Seminars in Ophthalmology. 30, 5-6, p. 435-442 8 p.

Research output: Contribution to journalArticle

Cupping of the optic disk after methanol poisoning

Galvez-Ruiz, A., Elkhamary, S. M., Asghar, N. & Bosley, T. M., Sep 1 2015, In : British Journal of Ophthalmology. 99, 9, p. 1220-1223 4 p.

Research output: Contribution to journalArticle

Nicotinic Receptor Mutation in a Mildly Dysmorphic Girl with Duane Retraction Syndrome

Abu-Amero, K. K., Kondkar, A., Hellani, A. M., Oystreck, D. T., Khan, A. O. & Bosley, T. M., Jun 1 2015, In : Ophthalmic genetics. 36, 2, p. 99-104 6 p.

Research output: Contribution to journalArticle

Partial duplication of chromosome 19 associated with syndromic Duane retraction syndrome

Abu-Amero, K. K., Kondkar, A. A., Al Otaibi, A., Alorainy, I. A., Khan, A. O., Hellani, A. M., Oystreck, D. T. & Bosley, T. M., Mar 1 2015, In : Ophthalmic genetics. 36, 1, p. 14-20 7 p.

Research output: Contribution to journalArticle

Visual and neurologic sequelae of methanol poisoning in Saudi Arabia

Galvez-Ruiz, A., Elkhamary, S. M., Asghar, N. & Bosley, T. M., 2015, In : Saudi Medical Journal. 36, 5, p. 568-574 7 p.

Research output: Contribution to journalArticle

2014

HOXA1 mutations are not commonly associated with non-syndromic deafness

Abu-Amero, K. K., Hagr, A. A., Almomani, M. O., Azad, T. A., Alorainy, I. A., Oystreck, D. T. & Bosley, T. M., Jul 1 2014, In : Canadian Journal of Neurological Sciences. 41, 4, p. 448-451 4 p.

Research output: Contribution to journalArticle

Open Access

Microdeletions involving chromosomes 12 and 22 associated with syndromic duane retraction syndrome

Abu-Amero, K. K., Kondkar, A. A., Oystreck, D. T., Khan, A. O. & Bosley, T. M., Sep 2014, In : Ophthalmic genetics. 35, 3, p. 162-169 8 p.

Research output: Contribution to journalArticle

Neurologic injury in isolated sulfite oxidase deficiency

Bosley, T. M., Alorainy, I. A., Oystreck, D. T., Hellani, A. M., Seidahmed, M. Z., Osman, M. E. F., Sabry, M. A., Rashed, M. S., Al-Yamani, E. A., Abu-Amero, K. K. & Salih, M. A., Jan 1 2014, In : Canadian Journal of Neurological Sciences. 41, 1, p. 42-48 7 p.

Research output: Contribution to journalArticle

Ocular motility abnormalities in orbitofacial neurofibromatosis type 1

Oystreck, D. T., Alorainy, I. A., Morales, J., Chaudhry, I. A., Elkhamary, S. M. & Bosley, T. M., Aug 2014, In : Journal of AAPOS. 18, 4, p. 338-343 6 p.

Research output: Contribution to journalArticle

Xq26.3 microdeletion in a male with wildervanck syndrome

Abu-Amero, K. K., Kondkar, A. A., Alorainy, I. A., Khan, A. O., Al-Enazy, L. A., Oystreck, D. T. & Bosley, T. M., Mar 1 2014, In : Ophthalmic genetics. 35, 1, p. 18-24 7 p.

Research output: Contribution to journalArticle

2013

A newly recognized autosomal recessive syndrome affecting neurologic function and vision

Salih, M. A., Tzschach, A., Oystreck, D. T., Hassan, H. H., Aldrees, A., Elmalik, S. A., El Khashab, H. Y., Wienker, T. F., Abu-Amero, K. K. & Bosley, T. M., Jun 2013, In : American Journal of Medical Genetics, Part A. 161, 6, p. 1207-1213 7 p.

Research output: Contribution to journalArticle

New Findings in a Global Approach to Dissect the Whole Phenotype of PLA2G6 Gene Mutations

Salih, M. A., Mundwiller, E., Khan, A. O., AlDrees, A., Elmalik, S. A., Hassan, H. H., Al-Owain, M., Alkhalidi, H. M. S., Katona, I., Kabiraj, M. M., Chrast, R., Kentab, A. Y., Alzaidan, H., Rodenburg, R. J., Bosley, T. M., Weis, J., Koenig, M., Stevanin, G. & Azzedine, H., Oct 9 2013, In : PloS one. 8, 10, e76831.

Research output: Contribution to journalArticle

Ophthalmologic observations in a patient with partial mosaic trisomy 8

Abu-Amero, K. K., Kondkar, A. A., Salih, M. A., Al-Husain, M., Al Shammari, M., Zeidan, G., Oystreck, D. T., Hellani, A. M., Kentab, A. Y. & Bosley, T. M., Dec 1 2013, In : Ophthalmic genetics. 34, 4, p. 249-253 5 p.

Research output: Contribution to journalArticle

Partial chromosome 7 duplication with a phenotype mimicking the HOXA1 spectrum disorder

Abu-Amero, K. K., Kondkar, A. A., Salih, M. A. M., Alorainy, I. A., Khan, A. O., Oystreck, D. T. & Bosley, T. M., Mar 1 2013, In : Ophthalmic genetics. 34, 1-2, p. 90-96 7 p.

Research output: Contribution to journalArticle

Preimplantation genetic diagnosis in isolated sulfite oxidase deficiency

Salih, M., Bosley, T., Alorainy, I., Sabry, M., Rashed, M., Al-Yamani, E., El-Akoum, S., Mohamed, S., Abu-Amero, K. & Hellani, A., Jan 1 2013, In : Canadian Journal of Neurological Sciences. 40, 1, p. 109-112 4 p.

Research output: Contribution to journalArticle

Open Access

Retrospective review of visual outcome in operated lens subluxation

Alzuhairy, S. A., Bosley, T. M. & Alotaibi, A. G., Oct 1 2013, In : Saudi Medical Journal. 34, 10, p. 1030-1034 5 p.

Research output: Contribution to journalArticle

Variable ptosis after botulinum toxin type a injection with positive ice test mimicking ocular myasthenia gravis

Alaraj, A. M., Oystreck, D. T. & Bosley, T. M., Jun 1 2013, In : Journal of Neuro-Ophthalmology. 33, 2, p. 169-171 3 p.

Research output: Contribution to journalArticle

2012

Absence of altered expression of optineurin in primary open angle glaucoma patients

Abu-Amero, K. K., Azad, T. A., Spaeth, G. L., Myers, J., Jay Katz, L., Moster, M. & Bosley, T. M., Jun 1 2012, In : Molecular vision. 18, p. 1421-1427 7 p.

Research output: Contribution to journalArticle

Entropion in children with isolated peripheral facial nerve paresis

Alsuhaibani, A. H., Bosley, T. M., Goldberg, R. A. & Al-Faky, Y. H., Aug 2012, In : Eye (Basingstoke). 26, 8, p. 1095-1098 4 p.

Research output: Contribution to journalArticle

Genome-wide expression profiling of patients with primary open angle glaucoma

Colak, D., Morales, J., Bosley, T. M., Al-Bakheet, A., AlYounes, B., Kaya, N. & Abu-Amero, K. K., Aug 1 2012, In : Investigative Ophthalmology and Visual Science. 53, 9, p. 5899-5904 6 p.

Research output: Contribution to journalArticle

Living and working abroad as a neurologist

Bosley, T. M., Dec 2012, In : Neurology: Clinical Practice. 2, 4, p. 328-334 7 p.

Research output: Contribution to journalArticle

Orbitofacial neurofibromatosis: Clinical characteristics and treatment outcome

Chaudhry, I. A., Morales, J., Shamsi, F. A., Al-Rashed, W., Elzaridi, E., Arat, Y. O., Jacquemin, C., Oystreck, D. T. & Bosley, T. M., Apr 2012, In : Eye. 26, 4, p. 583-592 10 p.

Research output: Contribution to journalArticle

Prominent corneal nerves: A novel sign of lipoid proteinosis

Al-Faky, Y. H., Bosley, T. M., Al-Turki, T., Salih, M. A. M., Abu-Amero, K. K. & Alsuhaibani, A. H., Jul 2012, In : British Journal of Ophthalmology. 96, 7, p. 935-940 6 p.

Research output: Contribution to journalArticle

Unaltered myocilin expression in the blood of primary open angle glaucoma patients

Abu-Amero, K. K., Azad, T. A., Spaeth, G. L., Myers, J., Katz, L. J., Moster, M. & Bosley, T. M., Apr 12 2012, In : Molecular vision. 18, p. 1004-1009 6 p.

Research output: Contribution to journalArticle

Visual loss in orbitofacial neurofibromatosis type 1

Oystreck, D. T., Morales, J., Chaudhry, I., Alorainy, I. A., Elkhamary, S. M., Pasha, T. M. U. & Bosley, T. M., Oct 2012, In : Ophthalmology. 119, 10, p. 2168-2173 6 p.

Research output: Contribution to journalArticle

2011

Congenital myasthenic syndrome due to homozygous CHRNE mutations: Report of patients in Arabia

Salih, M. A., Oystreck, D. T., Al-Faky, Y. H., Kabiraj, M., Omer, M. I. A., Subahi, E. M., Beeson, D., Abu-Amero, K. K. & Bosley, T. M., Mar 1 2011, In : Journal of Neuro-Ophthalmology. 31, 1, p. 42-47 6 p.

Research output: Contribution to journalArticle

Down-regulation of OPA1 in patients with primary open angle glaucoma

Bosley, T. M., Hellani, A., Spaeth, G. L., Myers, J., Katz, L. J., Moster, M. R., Milcarek, B. & Abu-Amero, K. K., May 9 2011, In : Molecular vision. 17, p. 1074-1079 6 p.

Research output: Contribution to journalArticle

Horizontal gaze palsy and progressive scoliosis due to a deleterious mutation in ROBO3

Abu-Amero, K. K., Kapoor, S., Hellani, A., Monga, S. & Bosley, T. M., Nov 1 2011, In : Ophthalmic genetics. 32, 4, p. 231-236 6 p.

Research output: Contribution to journalArticle

Horizontal gaze palsy and progressive scoliosis without ROBO3 mutations

Abu-Amero, K. K., Faletra, F., Gasparini, P., Parentin, F., Pensiero, S., Alorainy, I. A., Hellani, A. M., Catalano, D. & Bosley, T. M., Nov 1 2011, In : Ophthalmic genetics. 32, 4, p. 212-216 5 p.

Research output: Contribution to journalArticle

Molecular and neurological characterizations of three Saudi families with lipoid proteinosis

Salih, M. A., Abu-Amero, K. K., Alrasheed, S., Alorainy, I. A., Liu, L., McGrath, J. A., Van Maldergem, L., Al-Fakey, Y. H., AlSuhaibani, A. H., Oystreck, D. T. & Bosley, T. M., Feb 24 2011, In : BMC medical genetics. 12, 31.

Research output: Contribution to journalArticle

The neurology of carbonic anhydrase type II deficiency syndrome

Bosley, T. M., Salih, M. A., Alorainy, I. A., Islam, M. Z., Oystreck, D. T., Suliman, O. S. M., Malki, S. A., Suhaibani, A. H., Khiari, H., Beckers, S., Van Wesenbeeck, L., Perdu, B., Aldrees, A., Elmalik, S. A., Van Hul, W. & Abu-Amero, K. K., Dec 2011, In : Brain. 134, 12, p. 3499-3512 14 p.

Research output: Contribution to journalArticle

When straight eyes won't move: Phenotypic overlap of genetically distinct ocular motility disturbances

Oystreck, D. T., Salih, M. A. & Bosley, T. M., Dec 2011, In : Canadian Journal of Ophthalmology. 46, 6, p. 477-480 4 p.

Research output: Contribution to journalArticle

2010

A de novo marker chromosome derived from 9p in a patient with 9p partial duplication syndrome and autism features: genotype-phenotype correlation.

Abu-Amero, K. K., Hellani, A. M., Salih, M. A., Seidahmed, M. Z., Elmalik, T. S., Zidan, G. & Bosley, T. M., 2010, In : BMC medical genetics. 11, p. 135 1 p., 135.

Research output: Contribution to journalArticle

Open Access

A t(5;16)(p15.32;q23.3) generating 16q23.3 → qter duplication and 5p15.32 → pter deletion in two siblings with mental retardation, dysmorphic features, and speech delay

Hellani, A., Mohamed, S., Al-Akoum, S., Bosley, T. M. & Abu-Amero, K. K., Jun 1 2010, In : American Journal of Medical Genetics, Part A. 152, 6, p. 1555-1560 6 p.

Research output: Contribution to journalArticle

Genome-wide expression profile of LHON patients with the 11778 mutation

Abu-Amero, K. K., Jaber, M., Hellani, A. & Bosley, T. M., Feb 1 2010, In : British Journal of Ophthalmology. 94, 2, p. 256-259 4 p.

Research output: Contribution to journalArticle

Ophthalmologic abnormalities in a de novo terminal 6q deletion

Abu-Amero, K. K., Hellani, A., Salih, M. A., Hussain, A. A., Obailan, M. A., Zidan, G., Alorainy, I. A. & Bosley, T. M., Mar 1 2010, In : Ophthalmic genetics. 31, 1, p. 1-11 11 p.

Research output: Contribution to journalArticle

Optic disk and white matter abnormalities in a patient with a de novo 18p partial monosomy

Abu-Amero, K. K., Hellani, A., Salih, M. A., Alorainy, I. A., Zidan, G., Kern, K. C., Sicotte, N. L. & Bosley, T. M., Sep 1 2010, In : Ophthalmic genetics. 31, 3, p. 147-154 8 p.

Research output: Contribution to journalArticle

2009

Five new consanguineous families with horizontal gaze palsy and progressive scoliosis and novel ROBO3 mutations

Abu-Amero, K. K., Dhalaan, H. A., Zayed, Z. A., Hellani, A. & Bosley, T. M., Jan 15 2009, In : Journal of the Neurological Sciences. 276, 1-2, p. 22-26 5 p.

Research output: Contribution to journalArticle