Ashish R Deshwar
9PUBLICATIONS
29CO-AUTHORS
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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
