Usha Kini
9PUBLICATIONS
133CO-AUTHORS
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Publications (9)
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|Jan 24, 2025
Congenital Titinopathy: Comprehensive Characterization of the Most Severe End of the Disease Spectrum.Sandra Coppens, Nicolas Deconinck, Patricia Sullivan
|Dec 19, 2024
Exome and Genome Sequencing to Diagnose the Genetic Basis of Neonatal Hypotonia: An International Consortium Study.Sarah U Morton, Gregory Costain, Courtney E French
|May 23, 2023
Identifying the neurodevelopmental and psychiatric signatures of genomic disorders associated with intellectual disability: a machine learning approach.Nicholas Donnelly, Adam Cunningham, Sergio Marco Salas
|Jan 04, 2023
Clinical and Neurophysiologic Phenotypes in Neonates With <i>BRAT1</i> Encephalopathy.Evelina Carapancea, Marie-Coralie Cornet, Mathieu Milh
|Jul 25, 2022
MED27, SLC6A7, and MPPE1 Variants in a Complex Neurodevelopmental Disorder with Severe Dystonia.Kimberley M Reid, Robert Spaull, Smrithi Salian
|Apr 28, 2022
Heterozygous frameshift variants in HNRNPA2B1 cause early-onset oculopharyngeal muscular dystrophy.Hong Joo Kim, Payam Mohassel, Sandra Donkervoort
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Frequent Collaborators
3 joint publications
Courtney E French
2 joint publications
Francesco Muntoni
2 joint publications
David Rowitch
2 joint publications
Erik-Jan Kamsteeg
1 joint publications
Payam Mohassel
1 joint publications
Charlotte M Fare
1 joint publications
David R FitzPatrick
1 joint publications
Rebecca Buchert
1 joint publications
Thomas E Lloyd
1 joint publications
Sarah Ennis
