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Genetic Basis of Inherited Retinal Disease in a Molecularly Characterized Cohort of More Than 3000 Families from the United Kingdom

Ophthalmology (Rochester, Minn.), 2020-10, Vol.127 (10), p.1384-1394

2020

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Functional variants in the LRRK2 gene confer shared effects on risk for Crohn's disease and Parkinson's disease

Science translational medicine, 2018-01, Vol.10 (423)

2018

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Novel Biallelic Variants and Phenotypic Features in Patients with SLC38A8 -Related Foveal Hypoplasia

International journal of molecular sciences, 2021-01, Vol.22 (3), p.1130

2021

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Genetic Complexity of Crohn’s Disease in Two Large Ashkenazi Jewish Families

Gastroenterology (New York, N.Y. 1943), 2016-10, Vol.151 (4), p.698-709

2016

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Dominant Cone Rod Dystrophy, Previously Assigned to a Missense Variant in RIMS1 , Is Fully Explained by Co-Inheritance of a Dominant Allele of PROM1

Investigative ophthalmology & visual science, 2022-08, Vol.63 (9), p.14-14

2022

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Detailed Phenotyping and Therapeutic Strategies for Intronic ABCA4 Variants in Stargardt Disease

Molecular therapy. Nucleic acids, 2020-09, Vol.21, p.412-427

2020

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EPHA2 Segregates with Microphthalmia and Congenital Cataracts in Two Unrelated Families

International journal of molecular sciences, 2021-02, Vol.22 (4), p.2190

2021

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Additional rare variant analysis in Parkinson's disease cases with and without known pathogenic mutations: evidence for oligogenic inheritance

Human molecular genetics, 2016-12, Vol.25 (24), p.5483-5489

2016

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Prospective study of pediatric patients presenting with idiopathic infantile nystagmus-Management and molecular diagnostics

Frontiers in genetics, 2022-08, Vol.13, p.977806-977806

2022

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Prospective Study of the Phenotypic and Mutational Spectrum of Ocular Albinism and Oculocutaneous Albinism

Genes, 2021-03, Vol.12 (4), p.508

2021

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A genetic and clinical study of individuals with nonsyndromic retinopathy consequent upon sequence variants in HGSNAT, the gene associated with Sanfilippo C mucopolysaccharidosis

American journal of medical genetics. Part C, Seminars in medical genetics, 2020-09, Vol.184 (3), p.631-643

2020

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Variability of retinopathy consequent upon novel mutations in LAMA1

Ophthalmic genetics, 2022-09, Vol.43 (5), p.1-678

2022

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A New Look at Familial Risk of Inflammatory Bowel Disease in the Ashkenazi Jewish Population

Digestive diseases and sciences, 2018-11, Vol.63 (11), p.3049-3057

2018

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Expanding the clinical phenotype in patients with disease causing variants associated with atypical Usher syndrome

Ophthalmic genetics, 2021-12, Vol.42 (6), p.664-673

2021

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Genetic analysis of four consanguineous multiplex families with inflammatory bowel disease

Gastroenterology report, 2021-12, Vol.9 (6), p.521-532

2021

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Exploring the mutational landscape of genes associated with inherited retinal disease using large genomic datasets: identifying loss of function intolerance and outlying propensities for missense changes

BMJ open ophthalmology, 2022-08, Vol.7 (1), p.e001079

2022

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Seqfam: A python package for analysis of Next Generation Sequencing DNA data in families [version 1; peer review: 1 approved with reservations, 1 not approved]

F1000 research, 2018, Vol.7, p.281

2018

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PHYH c.678+5G>T Leads to In-Frame Exon Skipping and Is Associated With Attenuated Refsum Disease

Investigative ophthalmology & visual science, 2024-02, Vol.65 (2), p.38-38

2024

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Large-scale sequencing identifies multiple genes and rare variants associated with Crohn's disease susceptibility

Nature genetics, 2022-09, Vol.54 (9), p.1275-1283

2022

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A clinical study of patients with novel CDHR1 genotypes associated with late-onset macular dystrophy

Eye (London), 2021-05, Vol.35 (5), p.1482-1489

2021

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The inner junction protein CFAP20 functions in motile and non-motile cilia and is critical for vision

Nature communications, 2022-11, Vol.13 (1), p.6595-6595, Article 6595

2022

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A Frameshift in CSF2RB Predominant Among Ashkenazi Jews Increases Risk for Crohn's Disease and Reduces Monocyte Signaling via GM-CSF

Gastroenterology (New York, N.Y. 1943), 2016-10, Vol.151 (4), p.710-723.e2

2016

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Genetic Basis of Inherited Retinal Disease in a Molecularly Characterized Cohort of More Than 3000 Families from the United Kingdom

Functional variants in the LRRK2 gene confer shared effects on risk for Crohn's disease and Parkinson's disease

Novel Biallelic Variants and Phenotypic Features in Patients with SLC38A8 -Related Foveal Hypoplasia

Genetic Complexity of Crohn’s Disease in Two Large Ashkenazi Jewish Families

Dominant Cone Rod Dystrophy, Previously Assigned to a Missense Variant in RIMS1 , Is Fully Explained by Co-Inheritance of a Dominant Allele of PROM1

Detailed Phenotyping and Therapeutic Strategies for Intronic ABCA4 Variants in Stargardt Disease

EPHA2 Segregates with Microphthalmia and Congenital Cataracts in Two Unrelated Families

Additional rare variant analysis in Parkinson's disease cases with and without known pathogenic mutations: evidence for oligogenic inheritance

Prospective study of pediatric patients presenting with idiopathic infantile nystagmus-Management and molecular diagnostics

Prospective Study of the Phenotypic and Mutational Spectrum of Ocular Albinism and Oculocutaneous Albinism

A genetic and clinical study of individuals with nonsyndromic retinopathy consequent upon sequence variants in HGSNAT, the gene associated with Sanfilippo C mucopolysaccharidosis

Variability of retinopathy consequent upon novel mutations in LAMA1

A New Look at Familial Risk of Inflammatory Bowel Disease in the Ashkenazi Jewish Population

Expanding the clinical phenotype in patients with disease causing variants associated with atypical Usher syndrome

Genetic analysis of four consanguineous multiplex families with inflammatory bowel disease

Exploring the mutational landscape of genes associated with inherited retinal disease using large genomic datasets: identifying loss of function intolerance and outlying propensities for missense changes

Seqfam: A python package for analysis of Next Generation Sequencing DNA data in families [version 1; peer review: 1 approved with reservations, 1 not approved]

PHYH c.678+5G>T Leads to In-Frame Exon Skipping and Is Associated With Attenuated Refsum Disease

Large-scale sequencing identifies multiple genes and rare variants associated with Crohn's disease susceptibility

Multidisciplinary team directed analysis of whole genome sequencing reveals pathogenic non-coding variants in molecularly undiagnosed inherited retinal dystrophies

A clinical study of patients with novel CDHR1 genotypes associated with late-onset macular dystrophy

The inner junction protein CFAP20 functions in motile and non-motile cilia and is critical for vision

A Frameshift in CSF2RB Predominant Among Ashkenazi Jews Increases Risk for Crohn's Disease and Reduces Monocyte Signaling via GM-CSF

Spectrum of Genetic Variants in the Most Common Genes Causing Inherited Retinal Disease in a Large Molecularly Characterized United Kingdom Cohort

Spectrum of genetic variants in the commonest genes causing inherited retinal disease in a large molecularly characterised UK cohort

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