Pradeep Vasudevan
5PUBLICATIONS
129CO-AUTHORS
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Publications (5)
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|Aug 12, 2025
Non-isolated tetralogy of fallot (TOF+): exome sequencing efficacy and phenotypic expansions.Julia Volpi, Xiaonan Zhao, Nichole Owen
|Apr 10, 2025
Mutations in the small nuclear RNA gene RNU2-2 cause a severe neurodevelopmental disorder with prominent epilepsy.Daniel Greene, Koenraad De Wispelaere, Jon Lees
|Nov 19, 2024
Dominant negative variants in ITPR3 impair T cell Ca2+ dynamics causing combined immunodeficiency.Elena Blanco, Carme Camps, Sameer Bahal
|Jul 11, 2024
De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome.Yuyang Chen, Ruebena Dawes, Hyung Chul Kim
|Jul 11, 2023
Gain and loss of function variants in EZH1 disrupt neurogenesis and cause dominant and recessive neurodevelopmental disorders.Carolina Gracia-Diaz, Yijing Zhou, Qian Yang
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Frequent Collaborators
2 joint publications
Jill A Rosenfeld
1 joint publications
Carolina Gracia-Diaz
1 joint publications
Qian Yang
1 joint publications
Paula Espana-Bonilla
1 joint publications
Natàlia Padilla
1 joint publications
Elisa A Waxman
1 joint publications
Dong Li
1 joint publications
Paul Mark
1 joint publications
Hakon Hakonarson
1 joint publications
Stephanie Efthymiou
