Jaya Punetha
5PUBLICATIONS
78CO-AUTHORS
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Publications (5)
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|Mar 18, 2026
Familial medullary thyroid carcinoma secondary to an SLC30A9 intragenic deletion and translation reinitiation.Donato Iacovazzo, Federica Begalli, Oniz Suleyman
|Dec 31, 2025
The Emerging TNNT3 Spectrum: From Distal Arthrogryposis to Congenital Myopathy.Nami Altin, Kamel Mamchaoui, Jessica Ohana
|Jan 04, 2023
A biallelic frameshift indel in PPP1R35 as a cause of primary microcephaly.Moez Dawood, Gulsen Akay, Tadahiro Mitani
|Apr 15, 2020
Biallelic GRM7 variants cause epilepsy, microcephaly, and cerebral atrophy.Dana Marafi, Tadahiro Mitani, Sedat Isikay
|Aug 13, 2019
Biallelic CACNA2D2 variants in epileptic encephalopathy and cerebellar atrophy.Jaya Punetha, Ender Karaca, Alper Gezdirici
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Frequent Collaborators
3 joint publications
Dana Marafi
3 joint publications
Jennifer E Posey
3 joint publications
James R Lupski
2 joint publications
Jawid M Fatih
2 joint publications
Christopher M Grochowski
1 joint publications
Juan P Appendino
1 joint publications
A Micheil Innes
1 joint publications
Jill A Rosenfeld
1 joint publications
Moez Dawood
1 joint publications
Alper Gezdirici
