Author

Carlos F. Hernández

Universidad del DesarrolloORCID 0000-0002-6412-3777Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

Click to filter author papers

Signature Assays, Organisms & Methods

Click to filter · or open tag

Organism:human· 7 Approach:statistical model· 7 Assay:whole-genome sequencing· 4 Research Focus:database / resource· 2 Research Focus:GWAS / association mapping· 2 Assay:whole-exome sequencing· 2 Research Focus:differential expression· 1 Assay:GWAS summary statistics· 1

Frequent Co-Authors

Emily WaldoiD· 3 shared Ignacio Fernandez MataiD· 3 shared Kathryn StepiD· 3 shared Mary B. MakariousiD· 3 shared Zih‐Hua FangiD· 3 shared Boris Rebolledo‐JaramilloiD· 2 shared Dan VitaleiD· 2 shared Eduardo Pérez‐PalmaiD· 2 shared

Activity by Year

2022-2026 · peak 3/yr

Co-Author Collaboration Network

10 top collaborators · 25 mutual co-author links

Click any collaborator node to inspect or filter shared papers

Focal author (center)Selected co-authorORCID co-authorUnlinked name

Curved chords = mutual co-authorship

3 shared papersGenetic & Genomic Medicine

Emily WaldoORCID

Mutual co-authors in cluster

Author profile →

7 papers

Recent·Most cited

Genomic Landscape of Early-Onset and Familial Latin American Parkinson's Patients

Emily Waldo, Henry Mauricio Chaparro-Solano, Mariam Isayan, Thiago Peixoto Leal, Felipe Duarte-Zambrano, Miguel Inca‐Martinez, Janvi Ramchandra, Maria Paz, Mary B. Makarious, Carlos F. Hernández, Emilia Mabel Gatto, Natalia Gonzalez Rojas, Martin Cesarini, Bruno Lopes Santos‐Lobato, Grace Helena Letro, , Ignacio Fernandez Mata

The paper screens variants in PD-related genes in Latin American EOPD and familial PD patients, identifying pathogenic variants and contributing to the genetic characterization of these conditions in the region.

medRxiv · Sep 22, 2026 · PreprintGenetic & Genomic Medicine

The Global Parkinson's Disease Genetics (GP2) Genome Browser

Zih‐Hua Fang, Riley H. Grant, Dan Vitale, Carlos F. Hernández, Samantha Hong, Hampton L. Leonard, Mary B. Makarious, Lara Mariah Lange, Matthew Solomonson, Peter Heutink, Allison Ann Dilliott, Kamalini Ghosh Galvelis, Mike A. Nalls, Andrew Singleton, Cornelis Blauwendraat, the Global Parkinson’s Genetic Program (GP2)

The paper introduces a genome browser for Parkinson's disease genomic data, integrating WGS and CES samples with variant annotations and ancestry stratification.

Movement Disorders · Apr 19, 2026Peer-reviewedGenetic & Genomic Medicine

CHANGER: A novel genetic reference from 902 unrelated Chilean exomes to enhance South American medical genetics and research.

Evelin Gonzalez, Camilo Villamán, Boris Rebolledo‐Jaramillo, Carlos F. Hernández, Bernabé I. Bustos, Dominga Berrios, Gabriela Moreno Yates, Jennifer Ellen Posey, James R. Lupski, M. Cecilia Poli, Juan F. Calderón, Paula Muñoz Venturelli, Mario I Fernandez, Juan Alberto Lecarós, Ricardo Armisén, , Eduardo Pérez‐Palma

The paper presents CHANGER, a Chilean exome reference dataset of 902 unrelated individuals, to improve genetic research and variant interpretation in South American populations.

medRxiv · Jan 30, 2026 · PreprintGenetic & Genomic Medicine

Large-scale genetic characterization of Parkinson's disease in the African and African admixed populations

Fulya Akçimen, Kimberly Paquette, Peter Wild Crea, Kathryn Step, Emily Waldo, Mathew J. Koretsky, Paula Saffie Awad, Charles Achoru, Funmilola Taiwo, Simon Izuchukwu Ozomma, Gerald Onwuegbuzie, Marzieh Khani, Spencer M. Grant, Lukman Femi Owolabi, Chiamaka Edith Okereke, , Kamalini Ghosh Galvelis

This study identifies genetic variants associated with Parkinson's disease in African and African admixed populations, highlighting differences from European and Asian populations.

Brain · Oct 7, 2025Peer-reviewedGenetic & Genomic Medicine

Genome-wide association analyses reveal susceptibility variants linked to Parkinson's disease in the South African population using inferred global and local ancestry

Kathryn Step, Thiago Peixoto Leal, Emily Waldo, Lusanda Madula, Yolandi Swart, Carlos F. Hernández, Jonggeol Jeffrey Kim, Sara Bandrés‐Ciga, Global Parkinson’s Genetics Program (GP2), Ignacio Fernandez Mata, Soraya Bardien

This study identifies Parkinson's disease susceptibility variants in a South African cohort using GWAS and local ancestry analysis, highlighting ancestry-specific genetic risk factors.

medRxiv · Aug 1, 2025 · PreprintGenetic & Genomic Medicine

Genome-wide assessment identifies novel runs of homozygosity linked to Parkinson's disease etiology across diverse ancestral populations

Kathryn Step, Carlos F. Hernández, Esraa Eltaraifee, Ana Jimena Hernandez-Medrano, Pin‐Jui Kung, Miriam Ostrožovičová, Alexandra Zirra, Eduardo Pérez‐Palma, Niccolò Emanuele Mencacci, Ignacio Juan Keller Sarmiento, Huw R. Morris, Ignacio Fernandez Mata, Global Parkinson’s Genetics Program (GP2), Juliana Acosta‐Uribe, Zih‐Hua Fang, Sara Bandrés‐Ciga

The paper identifies novel runs of homozygosity linked to Parkinson's disease risk and age at onset across diverse populations using genome-wide data.

medRxiv · May 21, 2025 · PreprintGenetic & Genomic Medicine

Prodromal manifestations of Parkinson's disease in adults with 22q11.2 microdeletion syndrome

Carlos Juri C, Pedro Chaná‐Cuevas, Vasko Kramer, Rosemarie Fritsch M, Claudia Ornstein, Analía Cuiza, Carlos F. Hernández, Katiuska Villanueva, T. Córdova, Jorge Mauro, Adrian Ocampo, Boris Rebolledo‐Jaramillo, Gonzalo Encina, Andrea Calleja, Javiera Dinator, , Gabriela M. Repetto

This study identifies prodromal Parkinson's disease features in adults with 22q11.2 microdeletion syndrome, showing signs like hyposmia and dysautonomia, with some evidence of dopaminergic signaling changes.

medRxiv · May 18, 2022 · PreprintGenetic & Genomic Medicine