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Ashish R Deshwar

9PUBLICATIONS

29CO-AUTHORS

Molecular targetsNeurogeneticsEpigenetics (incl. genome methylation and epigenomics)Medical infection agents (incl. prions)Developmental genetics (incl. sex determination)

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Publications (9)

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|Feb 18, 2026

AAV8 gene therapy and dietary insults together precipitate cholestatic liver disease in a mouse model of X-linked myotubular myopathy.

Emanuela Pannia, Rebecca Simonian, Nesrin Sabha

|Jul 28, 2025

Variants in DENND2B are associated with vulnerability for neurodevelopmental impairment, psychosis and catatonia.

Harsha Murthy, Ny Hoang, Jamie C Stark

|Jun 10, 2025

Loss of DOT1L disrupts neuronal transcription and leads to a neurodevelopmental disorder.

Marissa J Maroni, Melissa Barton, Katherine Lynch

|Feb 02, 2023

SMPD4 regulates mitotic nuclear envelope dynamics and its loss causes microcephaly and diabetes.

Daphne J Smits, Rachel Schot, Nathalie Krusy

|Dec 08, 2022

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

Ashish R Deshwar, Cheryl Cytrynbaum, Harsha Murthy

|Oct 08, 2021

A rare unbalanced translocation (trisomy 5q33.3-qter, monosomy 13q34-qter) results in growth hormone deficiency and brain anomalies.

Alyssa C M Joynt, Ashish R Deshwar, Jessica Zon

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Frequent Collaborators

3 joint publications

James J Dowling

2 joint publications

Roberto Mendoza-Londono

2 joint publications

Stephen W Scherer

2 joint publications

Emanuela Pannia

2 joint publications

Grazia M S Mancini

2 joint publications

Gregory Costain

1 joint publications

David Chitayat

1 joint publications

Cheryl Cytrynbaum

1 joint publications

Gaël Nicolas

1 joint publications

Barry J Byrne

Frequent Collaborators

3 joint publications

James J Dowling

2 joint publications

Roberto Mendoza-Londono

2 joint publications

Stephen W Scherer

2 joint publications

Emanuela Pannia

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