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Prognosis for splicing factor PRPF8 retinitis pigmentosa, novel mutations and correlation between human and yeast phenotypes

Human mutation, 2010-05, Vol.31 (5), p.E1361-E1376

2010

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Characterization of a familial t(16;22) balanced translocation associated with congenital cataract leads to identification of a novel gene, TMEM114, expressed in the lens and disrupted by the translocation

Human mutation, 2007-10, Vol.28 (10), p.968-977

2007

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A subset of patients with epithelial basement membrane corneal dystrophy have mutations in TGFBI/BIGH3

Human mutation, 2006-06, Vol.27 (6), p.553-557

2006

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MIR204 n.37C>T variant as a cause of chorioretinal dystrophy variably associated with iris coloboma, early‐onset cataracts and congenital glaucoma

Clinical genetics, 2023-10, Vol.104 (4), p.418-426

2023

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Protein Kinase Cδ Deficiency Causes Mendelian Systemic Lupus Erythematosus With B Cell‐Defective Apoptosis and Hyperproliferation

Arthritis & rheumatology (Hoboken, N.J.), 2013-08, Vol.65 (8), p.2161-2171

2013

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Exploring the spectrum of 3-M syndrome, a primordial short stature disorder of disrupted ubiquitination

Clinical endocrinology (Oxford), 2012-09, Vol.77 (3), p.335-342

2012

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Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations

Human mutation, 2010-10, Vol.31 (10), p.1142-1154

2010

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Cochlear implantation in the era of genomic medicine

Cochlear implants international, 2020-03, Vol.21 (2), p.117-120

2020

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Next‐generation sequencing targeted disease panel in rod‐cone retinal dystrophies in Māori and Polynesian reveals novel changes and a common founder mutation

Clinical & experimental ophthalmology, 2017-12, Vol.45 (9), p.901-910

2017

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New variants and in silico analyses in GRK1 associated Oguchi disease

Human mutation, 2021-02, Vol.42 (2), p.164-176

2021

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Atypical presentation of CRB1 retinopathy

Acta ophthalmologica (Oxford, England), 2016-09, Vol.94 (6), p.e513-e514

2016

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Identification of genomic loci contributing to agenesis of the corpus callosum

American journal of medical genetics. Part A, 2010-09, Vol.152A (9), p.2145-2159

2010

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Missense and nonsense mutations in the alternatively-spliced exon 2 of COL2A1 cause the ocular variant of Stickler syndrome

Human mutation, 2008, Vol.29 (1), p.83-90

2008

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Genetic and functional analyses identify DISC1 as a novel callosal agenesis candidate gene

American journal of medical genetics. Part A, 2011-08, Vol.155A (8), p.1865-1876

2011

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Simple and Efficient Identification of Rare Recessive Pathologically Important Sequence Variants from Next Generation Exome Sequence Data

Human mutation, 2013-07, Vol.34 (7), p.945-952

2013

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Familial retinal detachment associated with COL2A1 exon 2 and FZD4 mutations

Clinical & experimental ophthalmology, 2012-07, Vol.40 (5), p.476-483

2012

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A novel deletion (IVS11+3del4) identified in the human PAX6 gene in a patient with aniridia

Human mutation, 2000-06, Vol.15 (6), p.582-582

2000

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Geroderma osteodysplastica maps to a 4 Mb locus on chromosome 1q24

American journal of medical genetics. Part A, 2008-12, Vol.146A (23), p.3034-3037

2008

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A subset of patients with epithelial basement membrane corneal dystrophy have mutations inTGFBI/BIGH3

Human mutation, 2006-06, Vol.27 (6), p.553-557

2006

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Novel phenotype of craniosynostosis and ocular anterior chamber dysgenesis with a fibroblast growth factor receptor 2 mutation

American journal of medical genetics. Part A, 2005-10, Vol.138A (3), p.278-281

2005

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Novel phenotype of craniosynostosis and ocular anterior chamber dysgenesis with a fibroblast growth factor receptor 2 mutation

American Journal of Medical Genetics Part A, 2005, Vol.138A (3), p.278-281

2005

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Prognosis for splicing factor PRPF8 retinitis pigmentosa, novel mutations and correlation between human and yeast phenotypes

Characterization of a familial t(16;22) balanced translocation associated with congenital cataract leads to identification of a novel gene, TMEM114, expressed in the lens and disrupted by the translocation

A subset of patients with epithelial basement membrane corneal dystrophy have mutations in TGFBI/BIGH3

MIR204 n.37C>T variant as a cause of chorioretinal dystrophy variably associated with iris coloboma, early‐onset cataracts and congenital glaucoma

Protein Kinase Cδ Deficiency Causes Mendelian Systemic Lupus Erythematosus With B Cell‐Defective Apoptosis and Hyperproliferation

Exploring the spectrum of 3-M syndrome, a primordial short stature disorder of disrupted ubiquitination

Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations

Cochlear implantation in the era of genomic medicine

Next‐generation sequencing targeted disease panel in rod‐cone retinal dystrophies in Māori and Polynesian reveals novel changes and a common founder mutation

New variants and in silico analyses in GRK1 associated Oguchi disease

Atypical presentation of CRB1 retinopathy

Identification of genomic loci contributing to agenesis of the corpus callosum

Missense and nonsense mutations in the alternatively-spliced exon 2 of COL2A1 cause the ocular variant of Stickler syndrome

Genetic and functional analyses identify DISC1 as a novel callosal agenesis candidate gene

Simple and Efficient Identification of Rare Recessive Pathologically Important Sequence Variants from Next Generation Exome Sequence Data

Familial retinal detachment associated with COL2A1 exon 2 and FZD4 mutations

A novel deletion (IVS11+3del4) identified in the human PAX6 gene in a patient with aniridia

Geroderma osteodysplastica maps to a 4 Mb locus on chromosome 1q24

A subset of patients with epithelial basement membrane corneal dystrophy have mutations inTGFBI/BIGH3

Novel phenotype of craniosynostosis and ocular anterior chamber dysgenesis with a fibroblast growth factor receptor 2 mutation

Novel phenotype of craniosynostosis and ocular anterior chamber dysgenesis with a fibroblast growth factor receptor 2 mutation

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