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Congenital hypopituitarism: clinical, molecular and neuroradiological correlates

Clinical endocrinology (Oxford), 2009-09, Vol.71 (3), p.376-382

2009

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X-linked cataract and Nance-Horan syndrome are allelic disorders

Human molecular genetics, 2009-07, Vol.18 (14), p.2643-2655

2009

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Study of Optimal Perimetric Testing in Children (OPTIC): Feasibility, Reliability and Repeatability of Perimetry in Children

PloS one, 2015-06, Vol.10 (6), p.e0130895-e0130895

2015

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Anophthalmos, microphthalmos, and typical coloboma in the United Kingdom: a prospective study of incidence and risk

Investigative ophthalmology & visual science, 2011-02, Vol.52 (1), p.558-564

2011

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Active surveillance of visual impairment due to adverse drug reactions: findings from a national study in the United Kingdom

Pharmacology research & perspectives, 2015-02, Vol.3 (1), p.e00107-n/a

2015

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Further delineation of pontocerebellar hypoplasia type 6 due to mutations in the gene encoding mitochondrial arginyl-tRNA synthetase, RARS2

Journal of inherited metabolic disease, 2012-05, Vol.35 (3), p.459-467

2012

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Altered electroretinograms in patients with KCNJ10 mutations and EAST syndrome

The Journal of physiology, 2011-04, Vol.589 (7), p.1681-1689

2011

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Anophthalmos, Microphthalmos, and Coloboma in the United Kingdom: Clinical Features, Results of Investigations, and Early Management

Ophthalmology (Rochester, Minn.), 2012-02, Vol.119 (2), p.362-368

2012

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Risk, causes, and outcomes of visual impairment after loss of vision in the non-amblyopic eye: a population-based study

The Lancet (British edition), 2002-08, Vol.360 (9333), p.597-602

2002

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Risks and outcomes associated with primary intraocular lens implantation in children under 2 years old with congenital and infantile cataract: the UK and Ireland IoLunder2 cohort study

The Lancet (British edition), 2014-11, Vol.384, p.S75-S75

2014

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Retinal characteristics of the congenital disorder of glycosylation PMM2-CDG

Journal of inherited metabolic disease, 2013-11, Vol.36 (6), p.1039-1047

2013

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Association of CHRDL1 mutations and variants with X-linked megalocornea, Neuhäuser syndrome and central corneal thickness

PloS one, 2014-08, Vol.9 (8), p.e104163-e104163

2014

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Visual Impairment Owing to Adverse Drug Reaction: Incidence and Routine Monitoring in the United Kingdom

Ophthalmology (Rochester, Minn.), 2014-05, Vol.121 (5), p.1152-1154

2014

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Tyrosinase gene mutations in oculocutaneous albinism 1 (OCA1): definition of the phenotype

Human genetics, 2003-11, Vol.113 (6), p.502-513

2003

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Study of Optimal Perimetric Testing In Children (OPTIC)

Ophthalmology (Rochester, Minn.), 2015-08, Vol.122 (8), p.1711-1717

2015

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Leber congenital amaurosis associated with AIPL1: challenges in ascribing disease causation, clinical findings, and implications for gene therapy

PloS one, 2012-03, Vol.7 (3), p.e32330-e32330

2012

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Bilateral macular scars following intrauterine herpes simplex virus type 2 infection

Journal of AAPOS, 2008-06, Vol.12 (3), p.305-306

2008

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Ophthalmological Aspects of Pierson Syndrome

American journal of ophthalmology, 2008-10, Vol.146 (4), p.602-611.e1

2008

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Prediction of improved vision in the amblyopic eye after visual loss in the non-amblyopic eye

The Lancet (British edition), 2002-08, Vol.360 (9333), p.621-622

2002

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Mutations in a Novel Gene, NHS, Cause the Pleiotropic Effects of Nance-Horan Syndrome, Including Severe Congenital Cataract, Dental Anomalies, and Mental Retardation

American journal of human genetics, 2003-11, Vol.73 (5), p.1120-1130

2003

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Alström syndrome: Report of 22 cases and literature review

Ophthalmology (Rochester, Minn.), 1998-07, Vol.105 (7), p.1274-1280

1998

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Study of Optimal Perimetric Testing In Children (OPTIC): developing consensus and setting research priorities for perimetry in the management of children with glaucoma

Eye (London), 2022-06, Vol.36 (6), p.1281-1287

2022

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CYP1B1 -Related Anterior Segment Developmental Anomalies

Ophthalmology (Rochester, Minn.), 2011, Vol.118 (9), p.1865-1873

2011

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Glaucoma following cataract surgery in the first 2 years of life: frequency, risk factors and outcomes from IoLunder2

British journal of ophthalmology, 2020-07, Vol.104 (7), p.967-973

2020

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Intraocular Langerhans cell histiocytosis in a neonate resulting in bilateral loss of vision

Pediatric Blood & Cancer, 2006-10, Vol.47 (5), p.633-635

2006

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Congenital hypopituitarism: clinical, molecular and neuroradiological correlates

X-linked cataract and Nance-Horan syndrome are allelic disorders

Study of Optimal Perimetric Testing in Children (OPTIC): Feasibility, Reliability and Repeatability of Perimetry in Children

Anophthalmos, microphthalmos, and typical coloboma in the United Kingdom: a prospective study of incidence and risk

Active surveillance of visual impairment due to adverse drug reactions: findings from a national study in the United Kingdom

Further delineation of pontocerebellar hypoplasia type 6 due to mutations in the gene encoding mitochondrial arginyl-tRNA synthetase, RARS2

Altered electroretinograms in patients with KCNJ10 mutations and EAST syndrome

Anophthalmos, Microphthalmos, and Coloboma in the United Kingdom: Clinical Features, Results of Investigations, and Early Management

Risk, causes, and outcomes of visual impairment after loss of vision in the non-amblyopic eye: a population-based study

Risks and outcomes associated with primary intraocular lens implantation in children under 2 years old with congenital and infantile cataract: the UK and Ireland IoLunder2 cohort study

Retinal characteristics of the congenital disorder of glycosylation PMM2-CDG

Association of CHRDL1 mutations and variants with X-linked megalocornea, Neuhäuser syndrome and central corneal thickness

Visual Impairment Owing to Adverse Drug Reaction: Incidence and Routine Monitoring in the United Kingdom

Tyrosinase gene mutations in oculocutaneous albinism 1 (OCA1): definition of the phenotype

Study of Optimal Perimetric Testing In Children (OPTIC)

Leber congenital amaurosis associated with AIPL1: challenges in ascribing disease causation, clinical findings, and implications for gene therapy

Bilateral macular scars following intrauterine herpes simplex virus type 2 infection

Ophthalmological Aspects of Pierson Syndrome

Prediction of improved vision in the amblyopic eye after visual loss in the non-amblyopic eye

Mutations in a Novel Gene, NHS, Cause the Pleiotropic Effects of Nance-Horan Syndrome, Including Severe Congenital Cataract, Dental Anomalies, and Mental Retardation

Alström syndrome: Report of 22 cases and literature review

Study of Optimal Perimetric Testing In Children (OPTIC): developing consensus and setting research priorities for perimetry in the management of children with glaucoma

CYP1B1 -Related Anterior Segment Developmental Anomalies

Glaucoma following cataract surgery in the first 2 years of life: frequency, risk factors and outcomes from IoLunder2

Intraocular Langerhans cell histiocytosis in a neonate resulting in bilateral loss of vision

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