Research output per year
Research output per year
- 1 - 50 out of 216 results
Search results
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2024
Clinical and ocular abnormalities in DEGCAGS syndrome—Developmental delay with gastrointestinal, cardiovascular, genitourinary, and skeletal abnormalities
Ali, S. M., AlMasri, D. A., Prada, C. E., Lin, D., Bosley, T. M. & Kozak, I., Jan 2024, In: Molecular Genetics and Genomic Medicine. 12, 1, e2329.Research output: Contribution to journal › Article › peer-review
Open Access -
2023
Retinal Findings in Haemorrhagic Destruction of the Brain, Subependymal Calcification, and Congenital Cataracts (HDBSCC): Case Report and Review
Kozak, I., Ali, S. M., Hoque, N., Lin, D. & Bosley, T. M., 2023, In: Neuro-Ophthalmology. 47, 1, p. 11-19 9 p.Research output: Contribution to journal › Article › peer-review
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2021
Optic Neuritis Associated With Tumor Necrosis Factor-Alpha Inhibitor Certolizumab
Chen, A., Miller, N. R. & Bosley, T. M., Dec 1 2021, In: Journal of Neuro-Ophthalmology. 41, 4, p. E713-E714Research output: Contribution to journal › Article › peer-review
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Third nerve palsy
Bosley, T. M., Jun 25 2021, Controversies in Neuro-Ophthalmic Management: An Evidence and Case-Based Appraisal. Springer International Publishing, p. 117-127 11 p.Research output: Chapter in Book/Report/Conference proceeding › Chapter
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Use of En Face Optical Coherence Tomography to Monitor Papilledema in Idiopathic Intracranial Hypertension: A Pilot Study
Carey, A. R., Bosley, T. M., Miller, N. R., McCulley, T. J. & Henderson, A. D., Jun 1 2021, In: Journal of Neuro-Ophthalmology. 41, 2, p. 212-216 5 p.Research output: Contribution to journal › Article › peer-review
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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 journal › Article › peer-review
1 Scopus citations -
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. M., 2018, In: Retinal Cases and Brief Reports. 12, 4, p. 349-358 10 p.Research output: Contribution to journal › Article › peer-review
3 Scopus citations -
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, Mar 30 2017, In: Nature genetics. 49, 4, p. 606-612 7 p.Research output: Contribution to journal › Article › peer-review
29 Scopus citations -
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 journal › Article › peer-review
10 Scopus citations -
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 journal › Article › peer-review
1 Scopus citations -
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 journal › Article › peer-review
1 Scopus citations -
Chromosome 6 microdeletion in a patient with syndromic congenital cranial dysinnervation disorder
Abu-Amero, K. K., Kondkar, A. A., Hellani, A. M., Bosley, T. M. & Khan, A. O., Jan 2016, In: Neurosciences. 21, 1, p. 72-74 3 p.Research output: Contribution to journal › Comment/debate › peer-review
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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 journal › Article › peer-review
2 Scopus citations -
Congenital cranial dysinnervation disorders
Bosley, T. M., Oystreck, D. T. & Abu-Amero, K. K., Jan 1 2016, The Curated Reference Collection in Neuroscience and Biobehavioral Psychology. Elsevier Science Ltd., p. 346-355 10 p.Research output: Chapter in Book/Report/Conference proceeding › Chapter
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Duane retraction syndrome associated with a Small X chromosome deletion
Abu-Amero, K. K., Kondkar, A. A., Odan, H. A., Khan, A. O., Oystreck, D. T. & Bosley, T. M., May 1 2016, In: Canadian Journal of Neurological Sciences. 43, 3, p. 445-447 3 p.Research output: Contribution to journal › Letter › peer-review
1 Scopus citations -
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 journal › Article › peer-review
3 Scopus citations -
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 journal › Article › peer-review
Open Access31 Scopus citations -
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 journal › Article › peer-review
5 Scopus citations -
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. M., Sep 1 2016, In: Egyptian Journal of Radiology and Nuclear Medicine. 47, 3, p. 1049-1055 7 p.Research output: Contribution to journal › Article › peer-review
Open Access3 Scopus citations -
The genetics of nonsyndromic bilateral Duane retraction syndrome
Abu-Amero, K. K., Khan, A. O., Oystreck, D. T., Kondkar, A. A. & Bosley, T. M., Oct 1 2016, In: Journal of AAPOS. 20, 5, p. 396-400.e2Research output: Contribution to journal › Article › peer-review
2 Scopus citations -
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 journal › Article › peer-review
5 Scopus citations -
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 journal › Article › peer-review
4 Scopus citations -
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 journal › Article › peer-review
2 Scopus citations -
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 journal › Article › peer-review
6 Scopus citations -
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 journal › Article › peer-review
Open Access15 Scopus citations -
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 journal › Article › peer-review
Open Access2 Scopus citations -
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 journal › Article › peer-review
4 Scopus citations -
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 journal › Article › peer-review
11 Scopus citations -
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 journal › Article › peer-review
4 Scopus citations -
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 2014, In: Ophthalmic genetics. 35, 1, p. 18-24 7 p.Research output: Contribution to journal › Article › peer-review
16 Scopus citations -
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 journal › Article › peer-review
6 Scopus citations -
Congenital cranial dysinnervation disorders: A concept in evolution
Bosley, T. M., Abu-Amero, K. K. & Oystreck, D. T., Sep 2013, In: Current opinion in ophthalmology. 24, 5, p. 398-406 9 p.Research output: Contribution to journal › Review article › peer-review
30 Scopus citations -
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 journal › Article › peer-review
Open Access36 Scopus citations -
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 2013, In: Ophthalmic genetics. 34, 4, p. 249-253 5 p.Research output: Contribution to journal › Article › peer-review
2 Scopus citations -
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 2013, In: Ophthalmic genetics. 34, 1-2, p. 90-96 7 p.Research output: Contribution to journal › Article › peer-review
15 Scopus citations -
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., 2013, In: Canadian Journal of Neurological Sciences. 40, 1, p. 109-112 4 p.Research output: Contribution to journal › Article › peer-review
Open Access6 Scopus citations -
Retrospective review of visual outcome in operated lens subluxation
Alzuhairy, S. A., Bosley, T. M. & Alotaibi, A. G., Oct 2013, In: Saudi Medical Journal. 34, 10, p. 1030-1034 5 p.Research output: Contribution to journal › Article › peer-review
2 Scopus citations -
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 2013, In: Journal of Neuro-Ophthalmology. 33, 2, p. 169-171 3 p.Research output: Contribution to journal › Article › peer-review
Open Access3 Scopus citations -
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 journal › Article › peer-review
5 Scopus citations -
Congenital cranial dysinnervation disorders
Miller, N. R. & Bosley, T. M., Jan 1 2012, Pediatric Ophthalmology and Strabismus: Expert Consult - Online and Print. Elsevier, p. 836-842 7 p.Research output: Chapter in Book/Report/Conference proceeding › Chapter
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Congenital cranial dysinnervation disorders
Miller, N. R. & Bosley, T. M., Jan 1 2012, Pediatric Ophthalmology and Strabismus, Fourth Edition. Elsevier, p. 836-842.e1Research output: Chapter in Book/Report/Conference proceeding › Chapter
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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 journal › Article › peer-review
1 Scopus citations -
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 2012, In: Investigative Ophthalmology and Visual Science. 53, 9, p. 5899-5904 6 p.Research output: Contribution to journal › Article › peer-review
12 Scopus citations -
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 journal › Article › peer-review
Open Access -
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 journal › Article › peer-review
Open Access19 Scopus citations -
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 journal › Article › peer-review
3 Scopus citations -
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 journal › Article › peer-review
15 Scopus citations -
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 journal › Article › peer-review
12 Scopus citations -
2011
Choroid plexus papilloma metastases to both cerebellopontine angles mimicking neurofibromatosis type 2
Al-Abdullah, A. A., Abu-Amero, K. K., Hellani, A., Alkhalidi, H. & Bosley, T. M., Mar 2011, In: Journal of neurology. 258, 3, p. 504-506 3 p.Research output: Contribution to journal › Letter › peer-review
5 Scopus citations -
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 2011, In: Journal of Neuro-Ophthalmology. 31, 1, p. 42-47 6 p.Research output: Contribution to journal › Article › peer-review
Open Access8 Scopus citations