Digenic Inheritance of Early-Onset Glaucoma: CYP1B1, a Potential Modifier Gene

Andrea L. Vincent, Gail Billingsley, Yvonne M. Buys, +5

The American Journal of Human Genetics

OphthalmologyGenetic DisorderGeneticsMolecular GeneticsDisease Gene Identification +3

The γ-Crystallins and Human Cataracts: A Puzzle Made Clearer

Élise Héon, Megan Priston, Daniel F. Schorderet, +4

The American Journal of Human Genetics

Ocular DiseaseHuman CataractsOphthalmologyPhysiologyCataract

BBS genotype-phenotype assessment of a multiethnic patient cohort calls for a revision of the disease definition

Catherine Deveault, Gail Billingsley, Jacque L. Duncan, +18

Human Mutation

Neurological DisorderGenetic EpidemiologyPathologyMultiethnic Patient CohortDisease Gene Identification +20

Axenfeld-Rieger syndrome resulting from mutation of the FKHL7 gene on chromosome 6p25

Farideh Mirzayans, Douglas B. Gould, Elise Héon, +4

European Journal of Human Genetics

Chromosome 6P25Mendelian DisorderGenetic DisorderGeneticsPathogenesis +8

CRYBA4, a Novel Human Cataract Gene, Is Also Involved in Microphthalmia

Gail Billingsley, Sathiyavedu Thyagarajan Santhiya, Andrew D. Paterson, +8

The American Journal of Human Genetics

Ocular DiseaseOphthalmologyMedicineOcular TissueOptogenetics +2

Further support of the role of CYP1B1 in patients with Peters anomaly.

Andrea L. Vincent, Gail Billingsley, Megan Priston, +4

PubMed

CRYBB1 mutation associated with congenital cataract and microcornea.

Colin E. Willoughby, Ayad Shafiq, W. Ferrini, +7

PubMed

Defining the Pathogenicity of<i>Optineurin</i>in Juvenile Open-Angle Glaucoma

Colin E. Willoughby, Louie Loh Yen Chan, Sarah Herd, +7

Investigative Ophthalmology & Visual Science

A Progressive Autosomal Recessive Cataract Locus Maps to Chromosome 9q13-q22

Elise Héon, Andrew D. Paterson, Michael Fraser, +7

The American Journal of Human Genetics

OphthalmologyGenetic DisorderGeneticsMolecular GeneticsMedicine +1

<i>BBS7</i>and<i>TTC8</i>(<i>BBS8</i>) mutations play a minor role in the mutational load of Bardet-Biedl syndrome in a multiethnic population

Jenea M. Bin, Jagadeesan Madhavan, W. Ferrini, +3

Human Mutation

Ocular DiseaseGeneticsGenetic EpidemiologyPathologyMolecular Genetics +19