Ramil R. Noche

Toronto, ON M5G1X8, Canada

Last Updated: 09/26/2026

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Found 11 publications

Machine-guided design of synthetic cell type-specific cis-regulatory elements.

Machine-guided design of synthetic cell type-specific cis-regulatory elements.

Journal: bioRxiv : the preprint server for biology
Published: August 23, 2023

Machine-guided design of cell-type-targeting cis-regulatory elements.

Machine-guided design of cell-type-targeting cis-regulatory elements.

Journal: Nature
Published: July 26, 2023

Methylenetetrahydrofolate reductase deficiency and high-dose FA supplementation disrupt embryonic development of energy balance and metabolic homeostasis in zebrafish.

Methylenetetrahydrofolate reductase deficiency and high-dose FA supplementation disrupt embryonic development of energy balance and metabolic homeostasis in zebrafish.

Journal: Human molecular genetics
Published: October 07, 2022

Variants in CLDN5 cause a syndrome characterized by seizures, microcephaly and brain calcifications.

Variants in CLDN5 cause a syndrome characterized by seizures, microcephaly and brain calcifications.

Journal: Brain : a journal of neurology
Published: June 28, 2022

Whole genome sequencing delineates regulatory, copy number, and cryptic splice variants in early onset cardiomyopathy.

Whole genome sequencing delineates regulatory, copy number, and cryptic splice variants in early onset cardiomyopathy.

Journal: NPJ genomic medicine
Published: August 10, 2021

Lysosomes and the pathogenesis of merosin-deficient congenital muscular dystrophy.

Lysosomes and the pathogenesis of merosin-deficient congenital muscular dystrophy.

Journal: Human molecular genetics
Published: April 06, 2021

De novo phosphoinositide synthesis in zebrafish is required for triad formation but not essential for myogenesis.

De novo phosphoinositide synthesis in zebrafish is required for triad formation but not essential for myogenesis.

Journal: PloS one
Published: March 18, 2020

Identification of drug modifiers for RYR1-related myopathy using a multi-species discovery pipeline.

Identification of drug modifiers for RYR1-related myopathy using a multi-species discovery pipeline.

Journal: eLife
Published: October 22, 2019

Multibow: digital spectral barcodes for cell tracing.

Multibow: digital spectral barcodes for cell tracing.

Journal: PloS one
Published: December 19, 2014

ACME: automated cell morphology extractor for comprehensive reconstruction of cell membranes.

ACME: automated cell morphology extractor for comprehensive reconstruction of cell membranes.

Journal: PLoS computational biology
Published: April 13, 2012

POC1A truncation mutation causes a ciliopathy in humans characterized by primordial dwarfism.

POC1A truncation mutation causes a ciliopathy in humans characterized by primordial dwarfism.

Journal: American journal of human genetics
Published: January 04, 2012
Showing 1-11 of 11

Last Updated: 09/26/2026