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Analysis of Multiple Families With Single Individuals Affected by Pseudohypoparathyroidism Type Ib (PHP1B) Reveals Only One Novel Maternally Inherited GNAS Deletion

Journal of bone and mineral research, 2016-04, Vol.31 (4), p.796-805

2016

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Bi-allelic Mutations in NDUFA6 Establish Its Role in Early-Onset Isolated Mitochondrial Complex I Deficiency

American journal of human genetics, 2018-10, Vol.103 (4), p.592-601

2018

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Biallelic Mutation of ARHGEF18, Involved in the Determination of Epithelial Apicobasal Polarity, Causes Adult-Onset Retinal Degeneration

American journal of human genetics, 2017-02, Vol.100 (2), p.334-342

2017

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A clinical and molecular characterisation of CRB1-associated maculopathy

European journal of human genetics : EJHG, 2018-05, Vol.26 (5), p.687-694

2018

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Clinical Features of a Retinopathy Associated With a Dominant Allele of the RGR Gene

Investigative ophthalmology & visual science, 2018-10, Vol.59 (12), p.4812-4820

2018

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Complex structural variants in Mendelian disorders: identification and breakpoint resolution using short- and long-read genome sequencing

Genome medicine, 2018-12, Vol.10 (1), p.95-95, Article 95

2018

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Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease

American journal of human genetics, 2017-01, Vol.100 (1), p.75-90

2017

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Expanding the tuberous sclerosis phenotype: mild disease caused by a TSC1 splicing mutation

Journal of neurology, neurosurgery and psychiatry, 2010-03, Vol.81 (3), p.350-352

2010

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Mutations in AGBL5, Encoding α-Tubulin Deglutamylase, Are Associated With Autosomal Recessive Retinitis Pigmentosa

Investigative ophthalmology & visual science, 2016-11, Vol.57 (14), p.6180-6187

2016

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Mutations in REEP6 Cause Autosomal-Recessive Retinitis Pigmentosa

American journal of human genetics, 2016-12, Vol.99 (6), p.1305-1315

2016

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Non-Mendelian inheritance patterns and extreme deviation rates of CGG repeats in autism

Genome research, 2022-11, Vol.32 (11-12), p.1967

2022

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Nonsyndromic Retinal Dystrophy due to Bi-Allelic Mutations in the Ciliary Transport Gene IFT140

Investigative ophthalmology & visual science, 2016-03, Vol.57 (3), p.1053-1062

2016

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De Novo VPS4A Mutations Cause Multisystem Disease with Abnormal Neurodevelopment

American journal of human genetics, 2020-12, Vol.107 (6), p.1129-1148

2020

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Reevaluation of the Retinal Dystrophy Due to Recessive Alleles of RGR With the Discovery of a Cis-Acting Mutation in CDHR1

Investigative ophthalmology & visual science, 2016-09, Vol.57 (11), p.4806-4813

2016

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Steroid receptor coactivator-1 modulates the function of Pomc neurons and energy homeostasis

Nature communications, 2019-04, Vol.10 (1), p.1718-14, Article 1718

2019

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The UK10K project identifies rare variants in health and disease

Nature (London), 2015-10, Vol.526 (7571), p.82-90

2015

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Vitamin A deficiency due to bi-allelic mutation of RBP4: There's more to it than meets the eye

Ophthalmic genetics, 2017-09, Vol.38 (5), p.465-466

2017

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Analysis of Multiple Families With Single Individuals Affected by Pseudohypoparathyroidism Type Ib (PHP1B) Reveals Only One Novel Maternally Inherited GNAS Deletion

Bi-allelic Mutations in NDUFA6 Establish Its Role in Early-Onset Isolated Mitochondrial Complex I Deficiency

Biallelic Mutation of ARHGEF18, Involved in the Determination of Epithelial Apicobasal Polarity, Causes Adult-Onset Retinal Degeneration

A clinical and molecular characterisation of CRB1-associated maculopathy

Clinical Features of a Retinopathy Associated With a Dominant Allele of the RGR Gene

Complex structural variants in Mendelian disorders: identification and breakpoint resolution using short- and long-read genome sequencing

Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease

Expanding the tuberous sclerosis phenotype: mild disease caused by a TSC1 splicing mutation

Low-frequency variation in TP53 has large effects on head circumference and intracranial volume

Mutations in AGBL5, Encoding α-Tubulin Deglutamylase, Are Associated With Autosomal Recessive Retinitis Pigmentosa

Mutations in REEP6 Cause Autosomal-Recessive Retinitis Pigmentosa

Non-Mendelian inheritance patterns and extreme deviation rates of CGG repeats in autism

Nonsyndromic Retinal Dystrophy due to Bi-Allelic Mutations in the Ciliary Transport Gene IFT140

De Novo VPS4A Mutations Cause Multisystem Disease with Abnormal Neurodevelopment

Reevaluation of the Retinal Dystrophy Due to Recessive Alleles of RGR With the Discovery of a Cis-Acting Mutation in CDHR1

Steroid receptor coactivator-1 modulates the function of Pomc neurons and energy homeostasis

The UK10K project identifies rare variants in health and disease

Vitamin A deficiency due to bi-allelic mutation of RBP4: There's more to it than meets the eye

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