Concepedia

Rojeen Niazi

RN

Statistics

Publications

5

Citations

197

H-Index

5

Active since

2016

Affiliations

Children's Hospital of Philadelphia(Current)

University of Pennsylvania

Rojeen Niazi is an author at Children's Hospital of Philadelphia specializing in exome sequencing, medicine, and molecular genetics.

ORCID

Publications per year

2016–2023

5

Publications

5

TRNT1 deficiency: clinical, biochemical and molecular genetic features

Yehani Wedatilake, Rojeen Niazi, Elisa Fassone et al. · Orphanet Journal of Rare Diseases · 2016 · 80 citations · Full text

, , +17

Allele-Specific Droplet Digital PCR Combined with a Next-Generation Sequencing-Based Algorithm for Diagnostic Copy Number Analysis in Genes with High Homology: Proof of Concept Using Stereocilin

Sami S. Amr, Elissa Murphy, Rojeen Niazi et al. · Clinical Chemistry · 2018 · 38 citations · Full text

, , +17

Lymphatic disorders caused by mosaic, activating KRAS variants respond to MEK inhibition

Sarah E. Sheppard, Michael March, Christoph Seiler et al. · JCI Insight · 2023 · 36 citations · Full text

, , +16

The Development and Validation of Clinical Exome-Based Panels Using ExomeSlicer

Rojeen Niazi, Michael Gonzalez, Jorune Balciuniene et al. · Journal of Molecular Diagnostics · 2018 · 24 citations · Full text

, , +6

Rapid and accurate interpretation of clinical exomes using Phenoxome: a computational phenotype-driven approach

Chao Wu, Batsal Devkota, Perry Evans et al. · European Journal of Human Genetics · 2019 · 19 citations · Full text

, , +16

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