Ashish R Deshwar

ORCID

Publication Activity (10 Years)

Years Active: 2017-2023
Publications (10 Years): 6

Top Venues

American journal of medical genetics. Part A

Brain : a journal of neurology

Molecular genetics & genomic medicine

Clinical genetics

This page only lists publications with an associated author ORCID identifier.

Publications

Daphne J Smits, Rachel Schot, Nathalie Krusy, Katja Wiegmann, Olaf Utermöhlen, Monique T Mulder, Sandra den Hoedt, Grace Yoon, Ashish R Deshwar, Christina Kresge, Beth Pletcher, Maura van Mook, Marta Serio Ferreira, Raymond A Poot, Johan A Slotman, Gert-Jan Kremers, Abeer Ahmad, Buthaina Albash, Laila Bastaki, Dana Marafi, Jordy Dekker, Tjakko J van Ham, Laurent Nguyen, Grazia Maria Simonetta Mancini
SMPD4 regulates mitotic nuclear envelope dynamics and its loss causes microcephaly and diabetes. Brain : a journal of neurology (2023)
Ashish R Deshwar, Cheryl Cytrynbaum, Harsha Murthy, Jessica Zon, David Chitayat, Jonathan Volpatti, Ruth Newbury-Ecob, Sian Ellard, Hana Lango Allen, Emily P Yu, Ramil Noche, Suzi Walker, Stephen W Scherer, Sonal Mahida, Christopher M Elitt, Gaël Nicolas, Alice Goldenberg, Pascale Saugier-Veber, Francois Lecoquierre, Ivana Dabaj, Hannah Meddaugh, Michael Marble, Kim M Keppler-Noreuil, Lucy Drayson, Kristin W Barañano, Anna Chassevent, Katie Agre, Pascaline Létard, Frederic Bilan, Gwenaël Le Guyader, Annie Laquerrière, Keri Ramsey, Lindsay Henderson, Lauren Brady, Mark Tarnopolsky, Matthew Bainbridge, Jennifer Friedman, Yline Capri, Larissa Athayde, Fernando Kok, Juliana Gurgel-Giannetti, Luiza L P Ramos, Susan Blaser, James E Dowling, Rosanna Weksberg
Variants in CLDN5 cause a syndrome characterized by seizures, microcephaly and brain calcifications. Brain : a journal of neurology (2022)
Alyssa C M Joynt, Ashish R Deshwar, Jessica Zon, Lucie Dupuis, Diane K Wherrett, Roberto Mendoza-Londono
A rare unbalanced translocation (trisomy 5q33.3-qter, monosomy 13q34-qter) results in growth hormone deficiency and brain anomalies. Molecular genetics & genomic medicine 9 (11) (2021)
Ashish R Deshwar, Nicole Martin, Patrick Shannon, David Chitayat
A homozygous pathogenic variant in SHROOM3 associated with anencephaly and cleft lip and palate. Clinical genetics 98 (3) (2020)
Ashish R Deshwar, Malte Spielmann, Lisa Vi, Roberto Mendoza-Londono, Lucie Dupuis, Jennifer Stimec, Andrew Howard, Jennifer Harrington, Peter Kannu
Disruption of the PTHLH regulatory landscape results in features consistent with hyperparathyroid disease. American journal of medical genetics. Part A 179 (4) (2019)
Ashish R Deshwar, Lucie Dupuis, Carsten Bergmann, James Stavropoulos, Roberto Mendoza-Londono
Severe rhizomelic shortening in a child with a complex duplication/deletion rearrangement of chromosome X. American journal of medical genetics. Part A 176 (2) (2017)

Ashish R Deshwar.css-eqlu8i{font-size:small;padding-left:4px;}

Publication Activity (10 Years)

Top Topics

Top Venues

Ashish R Deshwar