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Mutations in SLC25A46, encoding a UGO1-like protein, cause an optic atrophy spectrum disorder

Nature genetics, 2015-08, Vol.47 (8), p.926-932

2015

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A Recurrent Mosaic Mutation in SMO, Encoding the Hedgehog Signal Transducer Smoothened, Is the Major Cause of Curry-Jones Syndrome

American journal of human genetics, 2016-06, Vol.98 (6), p.1256-1265

2016

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Biallelic Mutations in MITF Cause Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, and Deafness

American journal of human genetics, 2016-12, Vol.99 (6), p.1388-1394

2016

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Phenotypic and Genetic Spectrum of Autosomal Recessive Bestrophinopathy and Best Vitelliform Macular Dystrophy

Investigative ophthalmology & visual science, 2021-05, Vol.62 (6), p.22

2021

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The Use of Magnetic Resonance Imaging Screening for Optic Pathway Gliomas in Children with Neurofibromatosis Type 1

The Journal of pediatrics, 2015-10, Vol.167 (4), p.851-856.e1

2015

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Rare and common variants in ROM1 and PRPH2 genes trans-modify Stargardt/ABCA4 disease

PLoS genetics, 2022-03, Vol.18 (3), p.e1010129-e1010129

2022

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Human cone visual pigment deletions spare sufficient photoreceptors to warrant gene therapy

Human gene therapy, 2013-12, Vol.24 (12), p.993

2013

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Monoallelic variants resulting in substitutions of MAB21L1 Arg51 Cause Aniridia and microphthalmia

PloS one, 2022-11, Vol.17 (11), p.e0268149-e0268149

2022

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The peroxisomal disorder spectrum and Heimler syndrome: Deep phenotyping and review of the literature

American journal of medical genetics. Part C, Seminars in medical genetics, 2020-09, Vol.184 (3), p.618-630

2020

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Acrofacial dysostosis, Cincinnati type: a mandibulofacial dysostosis syndrome with limb anomalies caused by POLR1A dysfunction

American journal of human genetics, 2015-05, Vol.96 (5), p.765-774

2015

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Characterisation of mutations of the phosphoinositide-3-kinase regulatory subunit, PIK3R2 , in perisylvian polymicrogyria: a next-generation sequencing study

Lancet neurology, 2015-12, Vol.14 (12), p.1182-1195

2015

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Proposed therapy, developed in a Pcdh15 -deficient mouse, for progressive loss of vision in human Usher syndrome

eLife, 2021-11, Vol.10

2021

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Variable Anterior Segment Dysgenesis and Cardiac Anomalies Caused by a Novel Truncating Variant of FOXC1

Genes, 2022-02, Vol.13 (3), p.411

2022

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Transcriptional mapping of the macaque retina and RPE-choroid reveals conserved inter-tissue transcription drivers and signaling pathways

Frontiers in genetics, 2022-11, Vol.13, p.949449-949449

2022

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A Comprehensive Report of Intrinsically Disordered Regions in Inherited Retinal Diseases

Genes, 2023-08, Vol.14 (8), p.1601

2023

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Using human sequencing to guide craniofacial research

Genesis (New York, N.Y. : 2000), 2019-01, Vol.57 (1), p.e23259-n/a

2019

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Predominant Founder Effect among Recurrent Pathogenic Variants for an X-Linked Disorder

Genes, 2022-04, Vol.13 (4), p.675

2022

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Persistent Dark Cones in Oligocone Trichromacy Revealed by Multimodal Adaptive Optics Ophthalmoscopy

Frontiers in aging neuroscience, 2021-03, Vol.13, p.629214-629214

2021

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A novel dominant COL11A1 mutation resulting in a severe skeletal dysplasia

American journal of medical genetics. Part A, 2014-10, Vol.164A (10), p.2607-2612

2014

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AMPK modulation ameliorates dominant disease phenotypes of CTRP5 variant in retinal degeneration

Communications biology, 2021-12, Vol.4 (1), p.1360-1360, Article 1360

2021

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Clinical Phenotypes of CDHR1 -Associated Retinal Dystrophies

Genes, 2022-05, Vol.13 (5), p.925

2022

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PNPLA6 disorders: what's in a name?

Ophthalmic genetics, 2023-12, Vol.44 (6), p.530-538

2023

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Sensitive extraction-free SARS-CoV-2 RNA virus detection using a chelating resin

iScience, 2021-09, Vol.24 (9), p.102960-102960, Article 102960

2021

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Mutations in SLC25A46, encoding a UGO1-like protein, cause an optic atrophy spectrum disorder

A Recurrent Mosaic Mutation in SMO, Encoding the Hedgehog Signal Transducer Smoothened, Is the Major Cause of Curry-Jones Syndrome

Variants in myelin regulatory factor (MYRF) cause autosomal dominant and syndromic nanophthalmos in humans and retinal degeneration in mice

Biallelic Mutations in MITF Cause Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, and Deafness

Phenotypic and Genetic Spectrum of Autosomal Recessive Bestrophinopathy and Best Vitelliform Macular Dystrophy

The Use of Magnetic Resonance Imaging Screening for Optic Pathway Gliomas in Children with Neurofibromatosis Type 1

Rare and common variants in ROM1 and PRPH2 genes trans-modify Stargardt/ABCA4 disease

Human cone visual pigment deletions spare sufficient photoreceptors to warrant gene therapy

Monoallelic variants resulting in substitutions of MAB21L1 Arg51 Cause Aniridia and microphthalmia

The peroxisomal disorder spectrum and Heimler syndrome: Deep phenotyping and review of the literature

Acrofacial dysostosis, Cincinnati type: a mandibulofacial dysostosis syndrome with limb anomalies caused by POLR1A dysfunction

Characterisation of mutations of the phosphoinositide-3-kinase regulatory subunit, PIK3R2 , in perisylvian polymicrogyria: a next-generation sequencing study

Proposed therapy, developed in a Pcdh15 -deficient mouse, for progressive loss of vision in human Usher syndrome

Variable Anterior Segment Dysgenesis and Cardiac Anomalies Caused by a Novel Truncating Variant of FOXC1

Transcriptional mapping of the macaque retina and RPE-choroid reveals conserved inter-tissue transcription drivers and signaling pathways

Mutations in the Endothelin Receptor Type A Cause Mandibulofacial Dysostosis with Alopecia

A Comprehensive Report of Intrinsically Disordered Regions in Inherited Retinal Diseases

Using human sequencing to guide craniofacial research

Predominant Founder Effect among Recurrent Pathogenic Variants for an X-Linked Disorder

Persistent Dark Cones in Oligocone Trichromacy Revealed by Multimodal Adaptive Optics Ophthalmoscopy

A novel dominant COL11A1 mutation resulting in a severe skeletal dysplasia

AMPK modulation ameliorates dominant disease phenotypes of CTRP5 variant in retinal degeneration

Clinical Phenotypes of CDHR1 -Associated Retinal Dystrophies

PNPLA6 disorders: what's in a name?

Sensitive extraction-free SARS-CoV-2 RNA virus detection using a chelating resin

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