P. Biswas

发表

Whole genome sequencing data of multiple individuals of Pakistani descent

S. Riazuddin, S. Riazuddin, M. W. Lee, 2020, Scientific data.

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

C. Hayward, S. Subramani, P. Shaw, 2019, Aging cell.

Transcriptome Analysis of Orbital Adipose Tissue in Active Thyroid Eye Disease Using Next Generation RNA Sequencing Technology

R. Ayyagari, B. Korn, D. Kikkawa, 2018, The open ophthalmology journal.

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

J. Duncan, J. Heckenlively, S. Riazuddin, 2014, Genomics.

Comparative Studies on Leaf Yield, Quality and Economy of Three Cultivars of Betelvine (Piper betle L.) as Influenced by Integrated Nitrogen Management

P. Biswas, M. Karmakar, A. Pariari, 2020 .

Methods exomeSuite : Whole exome sequence variant fi ltering tool for rapid identi fi cation of putative disease causing SNVs / indels

J. Duncan, J. Heckenlively, S. Riazuddin, 2014 .

Investigating the Molecular Basis of Retinal Degeneration in a Familial Cohort of Pakistani Decent by Exome Sequencing

S. Riazuddin, J. Hejtmancik, R. Ayyagari, 2015, PloS one.

Identification of a novel large multigene deletion and a frameshift indel in PDE6B as the underlying cause of early-onset recessive rod–cone degeneration

S. Daiger, L. Sullivan, E. Pierce, 2022, Cold Spring Harbor molecular case studies.

A mutation in IFT43 causes non-syndromic recessive retinal degeneration

K. Frazer, J. Duncan, S. Riazuddin, 2017, Human molecular genetics.

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

K. Frazer, P. Sieving, Andrew Huynh, 2021, PLoS genetics.

Detection and validation of novel mutations in MERTK in a simplex case of retinal degeneration using WGS and hiPSC–RPEs model

K. Frazer, S. Riazuddin, P. Raghavendra, 2020, Human mutation.

A missense mutation in ASRGL1 is involved in causing autosomal recessive retinal degeneration.

D. Sharon, J. Duncan, S. Bhattacharya, 2016, Human molecular genetics.

Identification of the genetic determinants responsible for retinal degeneration in families of Mexican descent

M. Dubé, P. Raghavendra, L. Busque, 2018, Ophthalmic genetics.

Whole-Exome Sequencing Identifies Novel Variants that Co-segregates with Autosomal Recessive Retinal Degeneration in a Pakistani Pedigree.

Shaheen N. Khan, S. Riazuddin, J. Hejtmancik, 2018, Advances in experimental medicine and biology.

Effect of Micronutrient Application on Vegetative Growth and Bulb Yield Attributes of Rabi Onion (Allium cepa L.)

T. Maity, Shreya Das, P. Biswas, 2020 .

Avidity sequencing of whole genomes from retinal degeneration pedigrees identifies causal variants

S. Kruglyak, J. Zhao, B. Lajoie, 2022, medRxiv.

Establishing the involvement of the novel gene AGBL5 in retinitis pigmentosa by whole genome sequencing.

K. Frazer, P. Sieving, A. Telenti, 2016, Physiological genomics.

Whole genome sequencing reveals novel mutations causing autosomal dominant inherited macular degeneration

J. Marsh, K. Carss, G. Arno, 2018, Ophthalmic genetics.

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

G. Dagnelie, J. Duncan, J. Heckenlively, 2017, Physiological genomics.

A Mouse Model with Ablated Asparaginase and Isoaspartyl Peptidase 1 (Asrgl1) Develops Early Onset Retinal Degeneration (RD) Recapitulating the Human Phenotype

D. Bartsch, N. Khan, P. Raghavendra, 2022, Genes.

Whole genome sequencing data of multiple individuals of Pakistani descent

S. Riazuddin, S. Riazuddin, M. W. Lee, 2020, Scientific Data.

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

K. Frazer, P. Sieving, A. Telenti, 2018, Human Genetics.

Whole Genome Sequencing Revealed Mutations in Two Independent Genes as the Underlying Cause of Retinal Degeneration in an Ashkenazi Jewish Pedigree

Kevin M Gustafson, K. Frazer, A. Telenti, 2017, Genes.

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

C. Hayward, S. Subramani, S. Borooah, 2019, Aging cell.

Identification of Novel Deletions as the Underlying Cause of Retinal Degeneration in Two Pedigrees.

P. Sieving, M. Othman, J. Heckenlively, 2018, Advances in experimental medicine and biology.

Ocular Phenotype of a Family with FAM161A-associated Retinal Degeneration

A. Roorda, J. Duncan, J. Heckenlively, 2014, Ophthalmic genetics.