Siddharth Sethi

436 Cambridge Science Park
Cambridge, ENG, United Kingdom

Last Updated: 09/26/2026

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Found 14 publications

PSQAN: a pipeline to prioritize novel and biologically relevant transcripts from long-read RNA sequencing.

PSQAN: a pipeline to prioritize novel and biologically relevant transcripts from long-read RNA sequencing.

Journal: Bioinformatics advances

Published: April 03, 2025

The annotation of GBA1 has been concealed by its protein-coding pseudogene GBAP1.

The annotation of GBA1 has been concealed by its protein-coding pseudogene GBAP1.

Journal: Science advances

Published: June 26, 2024

Pleiotropic brain function of whirlin identified by a novel mutation.

Pleiotropic brain function of whirlin identified by a novel mutation.

Journal: iScience

Published: March 11, 2024

Functional genomics provide key insights to improve the diagnostic yield of hereditary ataxia.

Functional genomics provide key insights to improve the diagnostic yield of hereditary ataxia.

Journal: Brain : a journal of neurology

Published: June 27, 2022

Leveraging omic features with F3UTER enables identification of unannotated 3'UTRs for synaptic genes.

Leveraging omic features with F3UTER enables identification of unannotated 3'UTRs for synaptic genes.

Journal: Nature communications

Published: February 24, 2021

The role of SQSTM1 (p62) in mitochondrial function and clearance in human cortical neurons.

The role of SQSTM1 (p62) in mitochondrial function and clearance in human cortical neurons.

Journal: Stem cell reports

Published: September 19, 2020

A holistic view of mouse enhancer architectures reveals analogous pleiotropic effects and correlation with human disease.

A holistic view of mouse enhancer architectures reveals analogous pleiotropic effects and correlation with human disease.

Journal: BMC genomics

Published: November 12, 2019

Author Correction: Regulatory variants at KLF14 influence type 2 diabetes risk via a female-specific effect on adipocyte size and body composition.

Author Correction: Regulatory variants at KLF14 influence type 2 diabetes risk via a female-specific effect on adipocyte size and body composition.

Journal: Nature genetics

Published: August 09, 2018

An N-Ethyl-N-Nitrosourea (ENU)-Induced Tyr265Stop Mutation of the DNA Polymerase Accessory Subunit Gamma 2 (Polg2) Is Associated With Renal Calcification in Mice.

An N-Ethyl-N-Nitrosourea (ENU)-Induced Tyr265Stop Mutation of the DNA Polymerase Accessory Subunit Gamma 2 (Polg2) Is Associated With Renal Calcification in Mice.

Journal: Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research

Published: June 10, 2018

Mice with a Brd4 Mutation Represent a New Model of Nephrocalcinosis.

Mice with a Brd4 Mutation Represent a New Model of Nephrocalcinosis.

Journal: Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research

Published: April 20, 2018

Regulatory variants at KLF14 influence type 2 diabetes risk via a female-specific effect on adipocyte size and body composition.

Regulatory variants at KLF14 influence type 2 diabetes risk via a female-specific effect on adipocyte size and body composition.

Journal: Nature genetics

Published: May 22, 2017

Novel gene function revealed by mouse mutagenesis screens for models of age-related disease.

Novel gene function revealed by mouse mutagenesis screens for models of age-related disease.

Journal: Nature communications

Published: February 29, 2016

Showing 1-12 of 14

Last Updated: 09/26/2026