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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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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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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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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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Targeted Next-Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability

Human mutation, 2015-12, Vol.36 (12), p.1197-1204

2015

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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

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

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

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

De Novo VPS4A Mutations Cause Multisystem Disease with Abnormal Neurodevelopment

Targeted Next-Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability

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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