Publications by authors named "John Suk"

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Fetal fraction amplification within prenatal cfDNA screening enables detection of genome-wide copy-number variants at enhanced resolution.
Ashley Acevedo, Oyang Teng, Heather G LaBreche, Alison Nguyen, Luis Jazo, John Suk

Genet Med· January 2025

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A Novel Mouse Model for Late-Onset Retinal Degeneration (L-ORD) Develops RPE Abnormalities Due to the Loss of C1qtnf5/Ctrp5.
Shyamanga Borooah, Anil Chekuri, Shikha Pachauri, Bhubananda Sahu, Marina Vorochikhina, John J Suk

Adv Exp Med Biol· July 2023

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Deciphering the genetic architecture and ethnographic distribution of IRD in three ethnic populations by whole genome sequence analysis.
Pooja Biswas, Adda L Villanueva, Angel Soto-Hermida, Jacque L Duncan, Hiroko Matsui, John Suk

PLoS Genet· October 2021

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Long-Term Effects of Gene Therapy in a Novel Mouse Model of Human -Associated Retinopathy.
Anil Chekuri, Bhubanananda Sahu, Venkata Ramana Murthy Chavali, Marina Voronchikhina, Angel Soto-Hermida, John J Suk

Hum Gene Ther· May 2019

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Identification of the genetic determinants responsible for retinal degeneration in families of Mexican descent.
Adda Villanueva, Pooja Biswas, Kameron Kishaba, John Suk, Keerti Tadimeti

Ophthalmic Genet· March 2018

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Correction: Gustafson et al., Whole Genome Sequencing Revealed Mutations in Two Independent Genes as the Underlying Cause of Retinal Degeneration in an Ashkenazi Jewish Pedigree. Genes 2017, 8, 210.
Kevin Gustafson, Jacque L Duncan, Pooja Biswas, Angel Soto-Hermida, Hiroko Matsui, John Suk

Genes (Basel)· October 2017

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Whole Genome Sequencing Revealed Mutations in Two Independent Genes as the Underlying Cause of Retinal Degeneration in an Ashkenazi Jewish Pedigree.
Kevin Gustafson, Jacque L Duncan, Pooja Biswas, Angel Soto-Hermida, Hiroko Matsui, John Suk

Genes (Basel)· August 2017

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Genetic analysis of 10 pedigrees with inherited retinal degeneration by exome sequencing and phenotype-genotype association.
Pooja Biswas, Jacque L Duncan, Bruno Maranhao, Igor Kozak, Kari Branham, John Suk

Physiol Genomics· April 2017

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A Report on Molecular Diagnostic Testing for Inherited Retinal Dystrophies by Targeted Genetic Analyses.
Hema L Ramkumar, Harini V Gudiseva, Kameron T Kishaba, John J Suk, Rohan Verma

Genet Test Mol Biomarkers· February 2017

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Establishing the involvement of the novel gene AGBL5 in retinitis pigmentosa by whole genome sequencing.
Kari Branham, Hiroko Matsui, Pooja Biswas, Aditya A Guru, Michael Hicks, John J Suk

Physiol Genomics· December 2016

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Investigating the Molecular Basis of Retinal Degeneration in a Familial Cohort of Pakistani Decent by Exome Sequencing.
Bruno Maranhao, Pooja Biswas, Alexander D H Gottsch, Mili Navani, Muhammad Asif Naeem, John Suk

PLoS One· May 2016

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Presence of rd8 mutation does not alter the ocular phenotype of late-onset retinal degeneration mouse model.
Bhubanananda Sahu, Venkata R M Chavali, Akhila Alapati, John Suk, Dirk-Uwe Bartsch

Mol Vis· September 2015

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Molecular diagnostic testing by eyeGENE: analysis of patients with hereditary retinal dystrophy phenotypes involving central vision loss.
Akhila Alapati, Kerry Goetz, John Suk, Mili Navani, Amani Al-Tarouti

Invest Ophthalmol Vis Sci· July 2014

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