Gabriela Repetto
15PUBLICATIONS
95CO-AUTHORS
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Publications (15)
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|Mar 27, 2026
Deletion size and background genetic variation shape congenital heart disease phenotypes in 3,016 individuals with 22q11.2 deletion syndrome.Jhih-Rong Lin, Daniella Miller, Dana Luong
|Dec 10, 2025
Genetic testing as moral technology: Navigating legitimacy, uncertainty, and access in rare disease diagnosis.Nicolás Schöngut-Grollmus, Dolores Steverlynck, Gabriela Repetto
|Jun 26, 2025
Exploring the Impact of Mitonuclear Discordance on Disease in Latin American Admixed Populations.Mauricio Ruiz, Daniela Böhme, Gabriela M Repetto
|Feb 07, 2025
Prevalence of Parkinson's Disease in 22q11.2 Deletion Syndrome: A Multicenter Study.Emma N M M von Scheibler, Ann Swillen, Gabriela M Repetto
|Apr 27, 2024
Pathogenic variants in HGF give rise to childhood-to-late onset primary lymphoedema by loss of function.Murat Alpaslan, Elodie Fastré, Sandrine Mestre
|Jan 04, 2024
Decoding complex inherited phenotypes in rare disorders: the DECIPHERD initiative for rare undiagnosed diseases in Chile.M Cecilia Poli, Boris Rebolledo-Jaramillo, Catalina Lagos
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Frequent Collaborators
3 joint publications
Boris Rebolledo-Jaramillo
2 joint publications
Bernice E Morrow
2 joint publications
Ann Swillen
2 joint publications
Donna M McDonald-McGinn
2 joint publications
Anne S Bassett
2 joint publications
Jennifer E Posey
2 joint publications
James R Lupski
2 joint publications
T Blaine Crowley
1 joint publications
Victoria Huckstadt
1 joint publications
Gali Heimer
