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Sporadic and Familial Congenital Cataracts: Mutational Spectrum and New Diagnoses Using Next-Generation Sequencing

Human mutation, 2016-04, Vol.37 (4), p.371-384

2016

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Paediatric Horner Syndrome: How much further to investigate?

Indian journal of ophthalmology, 2020-11, Vol.68 (11), p.2607-2610

2020

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An inherited TUBB2B mutation alters a kinesin-binding site and causes polymicrogyria, CFEOM and axon dysinnervation

Human molecular genetics, 2012-12, Vol.21 (26), p.5484-5499

2012

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Neurofibromatosis Type 1: Review and Update on Emerging Therapies

Asia-Pacific journal of ophthalmology (Philadelphia, Pa.), 2019-01, Vol.8 (1), p.62-72

2019

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Magnetic resonance imaging and ocular ultrasound findings in mucopolysaccharidosis type 2

Journal of pediatric ophthalmology and strabismus, 2014-11, Vol.51 (6), p.380

2014

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Towards a national pre‐school vision screening programme

Journal of paediatrics and child health, 2022-06, Vol.58 (6), p.948-952

2022

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Optic disc swelling in acromicric and geleophysic dysplasia

American journal of medical genetics. Part A, 2019-09, Vol.179 (9), p.1898-1901

2019

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Congenital Fibrosis of the Extraocular Muscles Type 1, Distinctive Conjunctival Changes and Intrapapillary Disc Colobomata

Ophthalmic genetics, 2009-01, Vol.30 (2), p.91-95

2009

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Reporting on Australian childhood visual impairment: the first 10 years

Eye (London), 2022-07, Vol.36 (7), p.1412-1418

2022

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Timing of surgery in essential infantile esotropia - What more do we know since the turn of the century?

Indian journal of ophthalmology, 2022-02, Vol.70 (2), p.386-395

2022

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Chromosomal Rearrangements and Novel Genes in Disorders of Eye Development, Cataract and Glaucoma

Twin research and human genetics, 2008-08, Vol.11 (4), p.412-421

2008

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Assessment and diagnosis of suspected glaucoma in patients with mucopolysaccharidosis

Acta ophthalmologica (Oxford, England), 2015-03, Vol.93 (2), p.e111-e117

2015

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Neurofibromatosis type 1 and optic pathway gliomas: Follow-up of 54 patients

Ophthalmology (Rochester, Minn.), 2004-03, Vol.111 (3), p.568-577

2004

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Corneal arcus as the presenting sign of familial hypercholesterolemia in a young child

Journal of AAPOS, 2018-12, Vol.22 (6), p.467-468

2018

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Exome sequencing in developmental eye disease leads to identification of causal variants in GJA8, CRYGC, PAX6 and CYP1B1

European journal of human genetics : EJHG, 2014-07, Vol.22 (7), p.907-915

2014

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Congenital fibrosis of the extraocular muscles associated with cortical dysplasia and maldevelopment of the basal ganglia

Ophthalmology (Rochester, Minn.), 2001-07, Vol.108 (7), p.1313-1322

2001

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Genome sequencing in congenital cataracts improves diagnostic yield

Human mutation, 2021-09, Vol.42 (9), p.1173-1183

2021

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A case of neurofibromatosis type 1 and unilateral glaucoma with ectropion uveae

Ophthalmic genetics, 2022-09, Vol.43 (5), p.709-712

2022

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Ocular and electrophysiological findings in a patient with Sly syndrome

Ophthalmic genetics, 2017-07, Vol.38 (4), p.376-379

2017

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NFS-24. TUMOR VOLUME IN NEWLY DIAGNOSED OPTIC PATHWAY GLIOMAS ASSOCIATED WITH NF1 (NF1-OPG): PRELIMINARY RESULTS FROM THE INTERNATIONAL MULTICENTER NF1-OPG NATURAL HISTORY STUDY

Neuro-oncology (Charlottesville, Va.), 2024-06, Vol.26 (Suppl 4), p.0-0

2024

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NFS-21. DEMOGRAPHIC, CLINICAL AND IMAGING CHARACTERISTICS OF NEWLY DIAGNOSED OPTIC PATHWAY GLIOMAS ASSOCIATED WITH NF1: RESULTS FROM THE INTERNATIONAL MULTICENTER NF1-OPG NATURAL HISTORY STUDY

Neuro-oncology (Charlottesville, Va.), 2024-06, Vol.26 (Suppl 4), p.0-0

2024

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Expanding the genetics and phenotypes of ocular congenital cranial dysinnervation disorders

Genetics in medicine, 2024-07, p.101216, Article 101216

2024

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Genome-Wide Association Study Identifies a Susceptibility Locus for Comitant Esotropia and Suggests a Parent-of-Origin Effect

Investigative ophthalmology & visual science, 2018-08, Vol.59 (10), p.4054-4064

2018

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Microphthalmia, anophthalmia, and coloboma and associated ocular and systemic features: understanding the spectrum

JAMA ophthalmology, 2013-12, Vol.131 (12), p.1517

2013

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NFB-09. ENROLLMENT AND CLINICAL CHARACTERISTICS OF NEWLY DIAGNOSED, NEUROFIBROMATOSIS TYPE 1 ASSOCIATED OPTIC PATHWAY GLIOMA (NF1-OPG): PRELIMINARY RESULTS FROM AN INTERNATIONAL MULTI-CENTER NATURAL HISTORY STUDY

Neuro-oncology (Charlottesville, Va.), 2020-12, Vol.22 (Supplement_3), p.iii419-iii419

2020

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Sporadic and Familial Congenital Cataracts: Mutational Spectrum and New Diagnoses Using Next-Generation Sequencing

Paediatric Horner Syndrome: How much further to investigate?

An inherited TUBB2B mutation alters a kinesin-binding site and causes polymicrogyria, CFEOM and axon dysinnervation

Neurofibromatosis Type 1: Review and Update on Emerging Therapies

Magnetic resonance imaging and ocular ultrasound findings in mucopolysaccharidosis type 2

Towards a national pre‐school vision screening programme

Optic disc swelling in acromicric and geleophysic dysplasia

Congenital Fibrosis of the Extraocular Muscles Type 1, Distinctive Conjunctival Changes and Intrapapillary Disc Colobomata

Reporting on Australian childhood visual impairment: the first 10 years

Timing of surgery in essential infantile esotropia - What more do we know since the turn of the century?

Chromosomal Rearrangements and Novel Genes in Disorders of Eye Development, Cataract and Glaucoma

Assessment and diagnosis of suspected glaucoma in patients with mucopolysaccharidosis

Neurofibromatosis type 1 and optic pathway gliomas: Follow-up of 54 patients

Corneal arcus as the presenting sign of familial hypercholesterolemia in a young child

Exome sequencing in developmental eye disease leads to identification of causal variants in GJA8, CRYGC, PAX6 and CYP1B1

Congenital fibrosis of the extraocular muscles associated with cortical dysplasia and maldevelopment of the basal ganglia

Genome sequencing in congenital cataracts improves diagnostic yield

A case of neurofibromatosis type 1 and unilateral glaucoma with ectropion uveae

Ocular and electrophysiological findings in a patient with Sly syndrome

NFS-24. TUMOR VOLUME IN NEWLY DIAGNOSED OPTIC PATHWAY GLIOMAS ASSOCIATED WITH NF1 (NF1-OPG): PRELIMINARY RESULTS FROM THE INTERNATIONAL MULTICENTER NF1-OPG NATURAL HISTORY STUDY

NFS-21. DEMOGRAPHIC, CLINICAL AND IMAGING CHARACTERISTICS OF NEWLY DIAGNOSED OPTIC PATHWAY GLIOMAS ASSOCIATED WITH NF1: RESULTS FROM THE INTERNATIONAL MULTICENTER NF1-OPG NATURAL HISTORY STUDY

Expanding the genetics and phenotypes of ocular congenital cranial dysinnervation disorders

Genome-Wide Association Study Identifies a Susceptibility Locus for Comitant Esotropia and Suggests a Parent-of-Origin Effect

Microphthalmia, anophthalmia, and coloboma and associated ocular and systemic features: understanding the spectrum

NFB-09. ENROLLMENT AND CLINICAL CHARACTERISTICS OF NEWLY DIAGNOSED, NEUROFIBROMATOSIS TYPE 1 ASSOCIATED OPTIC PATHWAY GLIOMA (NF1-OPG): PRELIMINARY RESULTS FROM AN INTERNATIONAL MULTI-CENTER NATURAL HISTORY STUDY

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