Vandana Shashi
13PUBLICATIONS
91CO-AUTHORS
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Publications (13)
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|Dec 04, 2024
Telehealth Is Effective in the Evaluation of Individuals With Undiagnosed Rare Disorders: An Undiagnosed Diseases Network Study.Queenie K-G Tan, Allyn McConkie-Rosell, Rachel M Brown
|Sep 18, 2024
A deep intronic splice-altering AIRE variant causes APECED syndrome through antisense oligonucleotide-targetable pseudoexon inclusion.Sebastian Ochoa, Amy P Hsu, Andrew J Oler
|Jun 26, 2024
Reanalysis of RNA sequencing data ends diagnostic odyssey and expands the phenotypic spectrum of congenital titinopathy.Lucy McNamee, Kelly Schoch, Alden Huang
|Apr 02, 2024
Mono and biallelic variants in HCN2 cause severe neurodevelopmental disorders.Clara Houdayer, A Marie Phillips, Marie Chabbert
|Apr 02, 2024
The book is just being written: The enduring journey of parents of children with emerging- ultrarare disorders.Bethany Stafford-Smith, Jennifer A Sullivan, Marion McAllister
|Sep 04, 2023
Parental perspectives of episodic irritability in an ultra-rare genetic disorder associated with NACC1.Kelly Schoch, Allyn McConkie-Rosell, Nicole Walley
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Frequent Collaborators
2 joint publications
Allyn McConkie-Rosell
1 joint publications
Gerarda Cappuccio
1 joint publications
Camilla Ceccatelli Berti
1 joint publications
Enrico Baruffini
1 joint publications
Enrico Bertini
1 joint publications
Marjo S van der Knaap
1 joint publications
Nicola Brunetti-Pierri
1 joint publications
A Marie Phillips
1 joint publications
Marie Chabbert
1 joint publications
Reza Maroofian
