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, +12

PLoS ONE

Establishing the involvement of the novel gene<i>AGBL5</i>in retinitis pigmentosa by whole genome sequencing

Kari Branham, Hiroko Matsui, Pooja Biswas, +12

Physiological Genomics

A mutation in IFT43 causes non-syndromic recessive retinal degeneration

Pooja Biswas, Jacque L. Duncan, Muhammad Ali, +10

Human Molecular Genetics

Ocular DiseaseRetinaMendelian DisorderOphthalmologyGenetic Disorder +11

Genetic analysis of 10 pedigrees with inherited retinal degeneration by exome sequencing and phenotype-genotype association

Pooja Biswas, Jacque L. Duncan, Bruno Maranhao, +15

Physiological Genomics

Deciphering the genetic architecture and ethnographic distribution of IRD in three ethnic populations by whole genome sequence analysis

Pooja Biswas, Adda Villanueva, Angel Soto‐Hermida, +27

PLoS Genetics

Family MembersGeneticsGenetic ArchitecturePathologyEducation +21

Late‐onset retinal degeneration pathology due to mutations in CTRP5 is mediated through HTRA1

Anil Chekuri, Katarzyna Zientara‐Rytter, Angel Soto‐Hermida, +11

Aging Cell

exomeSuite: Whole exome sequence variant filtering tool for rapid identification of putative disease causing SNVs/indels

Bruno Maranhao, Pooja Biswas, Jacque L. Duncan, +10

Genomics

Rapid IdentificationNext-generation SequencingGeneticsPathologyOmics +5

IFT88 mutations identified in individuals with non-syndromic recessive retinal degeneration result in abnormal ciliogenesis

Anil Chekuri, Aditya A. Guru, Pooja Biswas, +17

Human Genetics

Ocular DiseaseDevelopmental BiologyRetinaOphthalmologyGenetic Disorder +7

A missense mutation in<i>ASRGL1</i>is involved in causing autosomal recessive retinal degeneration

Pooja Biswas, Venkata Ramana Murthy Chavali, Giulia Agnello, +16

Human Molecular Genetics

Systems BiologyDevelopmental BiologyMendelian DisorderFunctional Asrgl1Medicine +9

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, +7

Genes