Víctor Raggio

universidad nacional del altiplano

H指数:14

被引数:654

个人简介

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教育背景

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工作经历

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荣誉奖项

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A labeled medical records corpus for the timely detection of rare diseases using machine learning approaches

SCIENTIFIC REPORTS

IF3.9

2025-02-260

OAAI

Parkinson's Disease Gene Screening in Familial Cases from Central and South America

MOVEMENT DISORDERS

IF7.6

2024-07-251

PRE

Lorenzo-Betancor, Oswaldo; Mehta, Seysha; Ramchandra, Janvi; Mumuney, Sekinat; Schumacher-Schuh, Artur F.; Cornejo-Olivas, Mario; Sarapura-Castro, Elison H.; Torres, Luis; Inca-Martinez, Miguel A.; Mazzetti, Pilar; Cosentino, Carlos; Micheli, Federico; Tumas, Vitor; Dieguez, Elena; Raggio, Victor; Borges, Vanderci; Ferraz, Henrique B.; Chana-Cuevas, Pedro; Jimenez-Del-Rio, Marlene; Velez-Pardo, Carlos; Moreno, Sonia; Lopera, Francisco; Orozco-Velez, Jorge L.; Munoz-Ospina, Beatriz; Rieder, Carlos R. M.; Medina-Escobar, Alex; Yearout, Dora; Zabetian, Cyrus P.; Mata, Ignacio F.

Exome Sequencing Reveals Biallelic Mutations in MBTPS1 Gene in a Girl with a Very Rare Skeletal Dysplasia

DIAGNOSTICS

IF3.3

2024-01-311

OAAI

Case Report: Mycosis fungoides as an exclusive manifestation of common variable immunodeficiency in a family with a NFKB2 gene mutation

FRONTIERS IN ONCOLOGY

IF3.3

2023-09-132

OAAI

X-Chromosome Association Study in Latin American Cohorts Identifies New Loci in Parkinson's Disease

MOVEMENT DISORDERS

IF7.6

2023-07-208

Leal, Thiago P.; Rao, Shilpa C.; French-Kwawu, Jennifer N.; Gouveia, Mateus H.; Borda, Victor; Bandres-Ciga, Sara; Inca-Martinez, Miguel; Mason, Emily A.; Horimoto, Andrea R. V. R.; Loesch, Douglas P.; Sarihan, Elif, I; Cornejo-Olivas, Mario R.; Torres, Luis; Mazzetti-Soler, Pilar E.; Cosentino, Carlos; Sarapura-Castro, Elison H.; Rivera-Valdivia, Andrea; Medina, Angel C.; Dieguez, Elena M.; Raggio, Victor E.; Lescano, Andres; Tumas, Vitor; Borges, Vanderci; Ferraz, Henrique B.; Rieder, Carlos R.; Schuh, Artur Schumacher; Santos-Lobato, Bruno L.; Velez-Pardo, Carlos; Jimenez-Del-Rio, Marlene; Lopera, Francisco; Moreno, Sonia; Chana-Cuevas, Pedro; Fernandez, William; Arboleda, Gonzalo; Arboleda, Humberto; Bustos, Carlos Arboleda E.; Yearout, Dora; Lima-Costa, Maria F.; Tarazona-Santos, Eduardo; Zabetian, Cyrus P.; Thornton, Timothy A.; O'Connor, Timothy D.; Mata, Ignacio F.

Computational and mitochondrial functional studies of novel compound heterozygous variants in SPATA5 gene support a causal link with epileptogenic encephalopathy

HUMAN GENOMICS

IF4.3

2023-02-270

OAAI

Polygenic risk prediction and SNCA haplotype analysis in a Latino Parkinson's disease cohort

PARKINSONISM & RELATED DISORDERS

IF3.4

2022-09-015

OAAI

Loesch, Douglas P.; Horimoto, Andrea R. V. R.; Sarihan, Elif Irem; Inca-Martinez, Miguel; Mason, Emily; Cornejo-Olivas, Mario; Torres, Luis; Mazzetti, Pilar; Cosentino, Carlos; Sarapura-Castro, Elison; Rivera-Valdivia, Andrea; Medina, Angel C.; Dieguez, Elena; Raggio, Victor; Lescano, Andres; Tumas, Vitor; Borges, Vanderci; Ferraz, Henrique B.; Rieder, Carlos R.; Schumacher-Schuh, Artur; Santos-Lobato, Bruno L.; Velez-Pardo, Carlos; Jimenez-Del-Rio, Marlene; Lopera, Francisco; Moreno, Sonia; Chana-Cuevas, Pedro; Fernandez, William; Arboleda, Gonzalo; Arboleda, Humberto; Arboleda-Bustos, Carlos E.; Yearout, Dora; Zabetian, Cyrus P.; Thornton, Timothy A.; Mata, Ignacio F.; O'Connor, Timothy D.

Blood cell respiration rates and mtDNA copy number: A promising tool for the diagnosis of mitochondrial disease

Mitochondrion

IF4.5

2021-11-017

PREAI

Characterizing the Genetic Architecture of Parkinson's Disease in Latinos

ANNALS OF NEUROLOGY

IF7.7

2021-07-2259

OAAI

Loesch, Douglas P.; Horimoto, Andrea R. V. R.; Heilbron, Karl; Sarihan, Elif I.; Inca-Martinez, Miguel; Mason, Emily; Cornejo-Olivas, Mario; Torres, Luis; Mazzetti, Pilar; Cosentino, Carlos; Sarapura-Castro, Elison; Rivera-Valdivia, Andrea; Medina, Angel C.; Dieguez, Elena; Raggio, Victor; Lescano, Andres; Tumas, Vitor; Borges, Vanderci; Ferraz, Henrique B.; Rieder, Carlos R.; Schumacher-Schuh, Artur; Santos-Lobato, Bruno L.; Velez-Pardo, Carlos; Jimenez-Del-Rio, Marlene; Lopera, Francisco; Moreno, Sonia; Chana-Cuevas, Pedro; Fernandez, William; Arboleda, Gonzalo; Arboleda, Humberto; Arboleda-Bustos, Carlos E.; Yearout, Dora; Zabetian, Cyrus P.; Cannon, Paul; Thornton, Timothy A.; O'Connor, Timothy D.; Mata, Ignacio F.

CBG Montevideo: A Clinically Novel SERPINA6 Mutation Leading to Haploinsufficiency of Corticosteroid-binding Globulin

JOURNAL OF THE ENDOCRINE SOCIETY

IF3.1

2021-06-226

OAAI

Whole genome sequencing reveals a frameshift mutation and a large deletion in YY1AP1 in a girl with a panvascular artery disease

HUMAN GENOMICS

IF4.3

2021-05-106

OAAI

Genome-Wide Analysis of Copy Number Variation in Latin American Parkinson's Disease Patients

拉丁美洲帕金森病患者拷贝数变异的全基因组分析

MOVEMENT DISORDERS

IF7.6

2020-11-0513

OAAI

Sarihan, Elif Irem; Perez-Palma, Eduardo; Niestroj, Lisa-Marie; Loesch, Douglas; Inca-Martinez, Miguel; Horimoto, Andrea R. V. R.; Cornejo-Olivas, Mario; Torres, Luis; Mazzetti, Pilar; Cosentino, Carlos; Sarapura-Castro, Elison; Rivera-Valdivia, Andrea; Dieguez, Elena; Raggio, Victor; Lescano, Andres; Tumas, Vitor; Borges, Vanderci; Ferraz, Henrique B.; Rieder, Carlos R.; Schumacher-Schuh, Artur F.; Santos-Lobato, Bruno L.; Velez-Pardo, Carlos; Jimenez-Del-Rio, Marlene; Lopera, Francisco; Moreno, Sonia; Chana-Cuevas, Pedro; Fernandez, William; Arboleda, Gonzalo; Arboleda, Humberto; Arboleda-Bustos, Carlos E.; Yearout, Dora; Zabetian, Cyrus P.; Thornton, Timothy A.; O'Connor, Timothy D.; Lal, Dennis; Mata, Ignacio F.

Epilepsy and Electroencephalographic Abnormalities in SATB2-Associated Syndrome

PEDIATRIC NEUROLOGY

IF2.1

2020-11-0113

OAAI

Lewis, Hannah; Samanta, Debopam; Orsell, Jenny-Li; Bosanko, Katherine A.; Rowell, Amy; Jones, Melissa; Dale, Russell C.; Taravath, Sasidharan; Hahn, Cecil D.; Krishnakumar, Deepa; Chagnon, Sarah; Keller, Stephanie; Hagebeuk, Eveline; Pathak, Sheel; Bebin, E. Martina; Arndt, Daniel H.; Alexander, John J.; Mainali, Gayatra; Coppola, Giangennaro; Maclean, Jane; Sparagana, Steven; McNamara, Nancy; Smith, Douglas M.; Raggio, Victor; Cruz, Marcos; Fernandez-Jaen, Alberto; Kava, Maina P.; Emrick, Lisa; Fish, Jennifer L.; Vanderver, Adeline; Helman, Guy; Pierson, Tyler M.; Zarate, Yuri A.

Deep sequencing discovery of causal mtDNA mutations in a patient with unspecific neurological disease

Mitochondrion

IF4.5

2019-05-017

PREAI

Mutation update for the SATB2 gene

HUMAN MUTATION

IF3.7

2019-04-2544

OAAI

Zarate, Yuri A.; Bosanko, Katherine A.; Caffrey, Aisling R.; Bernstein, Jonathan A.; Martin, Donna M.; Williams, Marc S.; Berry-Kravis, Elizabeth M.; Mark, Paul R.; Manning, Melanie A.; Bhambhani, Vikas; Vargas, Marcelo; Seeley, Andrea H.; Estrada-Veras, Juvianee, I; vanDooren, Marieke F.; Schwab, Maria; Vanderver, Adeline; Melis, Daniela; Alsadah, Adnan; Sadler, Laurie; Van Esch, Hilde; Callewaert, Bert; Oostra, Ann; Maclean, Jane; Dentici, Maria Lisa; Orlando, Valeria; Lipson, Mark; Sparagana, Steven P.; Maarup, Timothy J.; Alsters, Suzanne I. M.; Brautbar, Ariel; Kovitch, Eliana; Naidu, Sakkubai; Lees, Melissa; Smith, Douglas M.; Turner, Lesley; Raggio, Victor; Spangenberg, Lucia; Garcia-Minaur, Sixto; Roeder, Elizabeth R.; Littlejohn, Rebecca O.; Grange, Dorothy; Pfotenhauer, Jean; Jones, Marilyn C.; Balasubramanian, Meena; Martinez-Monseny, Antonio; Blok, Lot Snijders; Gavrilova, Ralitza; Fish, Jennifer L.

Variable frequency of LRRK2 variants in the Latin American research consortium on the genetics of Parkinson's disease (LARGE-PD), a case of ancestry (vol 3, 19, 2017)

NPJ PARKINSONS DISEASE

IF8.2

2018-01-191

OAAI

Variable frequency of LRRK2 variants in the Latin American research consortium on the genetics of Parkinson's disease (LARGE-PD), a case of ancestry

NPJ PARKINSONS DISEASE

IF8.2

2017-06-0230

OAAI

3697G>A in MT-ND1 is a causative mutation in mitochondrial disease

Mitochondrion

IF4.5

2016-05-0113

PREAI

Whole exome sequencing in dominant cataract identifies a new causative factor, CRYBA2, and a variety of novel alleles in known genes

HUMAN GENETICS

IF3.6

2013-03-1981

Lrrk2 p.Q1111H substitution and Parkinson's disease in Latin America

Lrrk2 p.Q1111H替代和拉丁美洲的帕金森病

PARKINSONISM & RELATED DISORDERS

IF3.4

2011-09-0114

OAAI

Mata, Ignacio F.; Wilhoite, Greggory J.; Yearout, Dora; Bacon, Justin A.; Cornejo-Olivas, Mario; Mazzetti, Pilar; Marca, Victoria; Ortega, Olimpio; Acosta, Oscar; Cosentino, Carlos; Torres, Luis; Medina, Angel C.; Perez-Pastene, Carolina; Diaz-Grez, Fernando; Vilarino-Gueell, Carles; Venegas, Pablo; Miranda, Marcelo; Trujillo-Godoy, Osvaldo; Layson, Luis; Avello, Rodrigo; Dieguez, Elena; Raggio, Victor; Micheli, Federico; Perandones, Claudia; Alvarez, Victoria; Segura-Aguilar, Juan; Farrer, Matthew J.; Zabetian, Cyrus P.; Ross, Owen A.

Víctor Raggio

个人简介

教育背景

工作经历

荣誉奖项

研究方向