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Elifnaz Celik on Muck Rack

Elifnaz Celik

As seen in: BioRxiv, The American Journal of Human Genetics
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Articles

RetiGene, a comprehensive gene atlas for inherited retinal diseases (IRDs)

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By Mathieu Quinodoz, Elifnaz Celik, Dhryata Kamdar, Francesca Cancellieri
| BioRxiv
Abstract Inherited retinal diseases (IRDs) are rare disorders, typically presenting as Mendelian traits, that result in stationary or progressive visual impairment. They are characterized by extensive genetic heterogeneity, possibly the highest among all human genetic diseases, as well as diverse inheritance patterns.
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Mutations in SAMD7 cause autosomal-recessive macular dystrophy with or without cone dysfunction

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By Miriam Bauwens, Dinah Zur, Elifnaz Celik
| The American Journal of Human Genetics Verified
Sterile alpha motif domain containing 7 (SAMD7) is a component of the Polycomb repressive complex 1, which inhibits transcription of many genes, including those activated by the transcription factor Cone-Rod Homeobox (CRX). Here we report bi-allelic mutations in SAMD7 as a cause of autosomal-recessive macular dystrophy with or without cone dysfunction.
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