Julia Baptista
11PUBLICATIONS
120CO-AUTHORS
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Publications (11)
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|Nov 24, 2025
Recessive genomic and phenotypic variation in consanguineous families with cerebral palsy.Pritha Bisarad, Yung-Chun Wang, Peter T Skidmore
|May 19, 2025
Pathogenic variants in BORCS5 Cause a Spectrum of Neurodevelopmental and Neurodegenerative Disorders with Lysosomal Dysfunction.Niccolò E Mencacci, Georgia Minakaki, Reza Maroofian
|Jul 27, 2023
Heterozygous rare variants in NR2F2 cause a recognizable multiple congenital anomaly syndrome with developmental delays.Mythily Ganapathi, Leticia S Matsuoka, Michael March
|Jun 22, 2023
Penetrance of pathogenic genetic variants associated with premature ovarian insufficiency.Saleh Shekari, Stasa Stankovic, Eugene J Gardner
|Sep 06, 2022
Germline homozygous missense DEPDC5 variants cause severe refractory early-onset epilepsy, macrocephaly and bilateral polymicrogyria.Athina Ververi, Sara Zagaglia, Lara Menzies
|Aug 01, 2022
Novel DNM1L variants impair mitochondrial dynamics through divergent mechanisms.Kelsey A Nolden, John M Egner, Jack J Collier
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Frequent Collaborators
2 joint publications
Mariasavina Severino
2 joint publications
Fowzan S Alkuraya
1 joint publications
Karen W Gripp
1 joint publications
Lisette Leeuwen
1 joint publications
Kerstin Kutsche
1 joint publications
Andrea Accogli
1 joint publications
Giana Izzo
1 joint publications
Domenico Tortora
1 joint publications
Valeria Capra
1 joint publications
Andrea Rossi
