Francyne Kubaski

ResearcherID ResearcherID Scopus Author ID ORCID

Publication Activity (10 Years)

Years Active: 2017-2024
Publications (10 Years): 27

Top Venues

Genetics and molecular biology

International journal of neonatal screening

International journal of molecular sciences

Therapeutics and clinical risk management

Universidade Federal do Rio Grande

University of Delaware (PHD)

This page only lists publications with an associated author ORCID identifier.

Affiliation History

Universidade Federal do Rio Grande

Brazil

Postdoctoral fellow :: Molecular Biology and Genetics

INAGEMP Jun 01 2017 - Aug 31 2017

Brazil

Postdoctoral fellow

Education History

University of Delaware

United States

PHD :: Biological Sciences

Universidade Federal do Rio Grande do Sul

Brazil

MSC :: Medical Sciences

IESA

Brazil

BSC

Publications

Matheus Vernet Machado Bressan Wilke, Gabrielle Dineck Iop, Larissa Faqueti, Layzon Antonio Lemos da Silva, Francyne Kubaski, Fabiano de Oliveira Poswar, Kristiane Michelin-Tirelli, Dévora Randon, Wyllians Vendramini Borelli, Roberto Giugliani, Ida Vanessa D Schwartz
A Brazilian Rare-Disease Center's Experience with Glucosylsphingosine (lyso-Gb1) in Patients with Gaucher Disease: Exploring a Novel Correlation with IgG Levels in Plasma and a Biomarker Measurement in CSF. International journal of molecular sciences 25 (5) (2024)
Matheus Vernet Machado Bressan Wilke, Gabrielle Dineck Iop, Larissa Faqueti, Layzon Antonio Lemos da Silva, Francyne Kubaski, Fabiano de Oliveira Poswar, Kristiane Michelin-Tirelli, Dévora Randon, Wyllians Vendramini Borelli, Roberto Giugliani, Ida Vanessa D Schwartz
A Brazilian Rare-Disease Center's Experience with Glucosylsphingosine (lyso-Gb1) in Patients with Gaucher Disease: Exploring a Novel Correlation with IgG Levels in Plasma and a Biomarker Measurement in CSF. International journal of molecular sciences 25 (5) (2024)
Matheus Vernet Machado Bressan Wilke, Gabrielle Dineck Iop, Larissa Faqueti, Layzon Antonio Lemos da Silva, Francyne Kubaski, Fabiano de Oliveira Poswar, Kristiane Michelin-Tirelli, Dévora Randon, Wyllians Vendramini Borelli, Roberto Giugliani, Ida Vanessa D Schwartz
A Brazilian Rare-Disease Center's Experience with Glucosylsphingosine (lyso-Gb1) in Patients with Gaucher Disease: Exploring a Novel Correlation with IgG Levels in Plasma and a Biomarker Measurement in CSF. International journal of molecular sciences 25 (5) (2024)
Matheus Vernet Machado Bressan Wilke, Gabrielle Dineck Iop, Larissa Faqueti, Layzon Antonio Lemos da Silva, Francyne Kubaski, Fabiano de Oliveira Poswar, Kristiane Michelin-Tirelli, Dévora Randon, Wyllians Vendramini Borelli, Roberto Giugliani, Ida Vanessa D Schwartz
A Brazilian Rare-Disease Center's Experience with Glucosylsphingosine (lyso-Gb1) in Patients with Gaucher Disease: Exploring a Novel Correlation with IgG Levels in Plasma and a Biomarker Measurement in CSF. International journal of molecular sciences 25 (5) (2024)
Yorran Hardman Araújo Montenegro, Francyne Kubaski, Franciele Barbosa Trapp, Mariluce Riegel, Carolina Fischinger Moura de Souza, Erlane Marques Ribeiro, Charles Marques Lourenço, Augusto César Cardoso Dos Santos, Marcia Gonçalves Ribeiro, Chong Ae Kim, Matheus Augusto Araújo Castro, Emília Katiane Embiruçu, Carlos Eduardo Steiner, Filippo Pinto E Vairo, Guilherme Baldo, Roberto Giugliani, Fabiano de Oliveira Poswar
Disease progression in Sanfilippo type B: Case series of Brazilian patients. Genetics and molecular biology 47 (1) (2024)
Yorran Hardman Araújo Montenegro, Francyne Kubaski, Franciele Barbosa Trapp, Mariluce Riegel, Carolina Fischinger Moura de Souza, Erlane Marques Ribeiro, Charles Marques Lourenço, Augusto César Cardoso Dos Santos, Marcia Gonçalves Ribeiro, Chong Ae Kim, Matheus Augusto Araújo Castro, Emília Katiane Embiruçu, Carlos Eduardo Steiner, Filippo Pinto E Vairo, Guilherme Baldo, Roberto Giugliani, Fabiano de Oliveira Poswar
Disease progression in Sanfilippo type B: Case series of Brazilian patients. Genetics and molecular biology 47 (1) (2024)
Yorran Hardman Araújo Montenegro, Francyne Kubaski, Franciele Barbosa Trapp, Mariluce Riegel, Carolina Fischinger Moura de Souza, Erlane Marques Ribeiro, Charles Marques Lourenço, Augusto César Cardoso Dos Santos, Marcia Gonçalves Ribeiro, Chong Ae Kim, Matheus Augusto Araújo Castro, Emília Katiane Embiruçu, Carlos Eduardo Steiner, Filippo Pinto E Vairo, Guilherme Baldo, Roberto Giugliani, Fabiano de Oliveira Poswar
Disease progression in Sanfilippo type B: Case series of Brazilian patients. Genetics and molecular biology 47 (1) (2024)
Rowena Rubim Couto, Francyne Kubaski, Marina Siebert, Têmis Maria Félix, Ana Carolina Brusius Facchin, Sandra Leistner-Segal
Increased Serum Levels of miR-125b and miR-132 in Fragile X Syndrome: A Preliminary Study. Neurology. Genetics 8 (6) (2022)
Michael H Gelb, Khaja Basheeruddin, Alberto B Burlina, Hsiao-Jan Chen, Yin-Hsiu Chien, George Dizikes, Mary Christine Dorley, Roberto Giugliani, Amy Hietala, Xinying Hong, Shu-Min Kao, Hamid Khaledi, Tracy Klug, Francyne Kubaski, Hsuan-Chieh Liao, Monica Martin, Adrienne Manning, Joseph Orsini, Yin Peng, Enzo Ranieri, Andreas Rohrwasser, Nicolas Szabo-Fresnais, Coleman T Turgeon, Frédérick M Vaz, Li-Yun Wang, Dietrich Matern
Liquid Chromatography-Tandem Mass Spectrometry in Newborn Screening Laboratories. International journal of neonatal screening 8 (4) (2022)
Michael H Gelb, Khaja Basheeruddin, Alberto B Burlina, Hsiao-Jan Chen, Yin-Hsiu Chien, George Dizikes, Mary Christine Dorley, Roberto Giugliani, Amy Hietala, Xinying Hong, Shu-Min Kao, Hamid Khaledi, Tracy Klug, Francyne Kubaski, Hsuan-Chieh Liao, Monica Martin, Adrienne Manning, Joseph Orsini, Yin Peng, Enzo Ranieri, Andreas Rohrwasser, Nicolas Szabo-Fresnais, Coleman T Turgeon, Frédérick M Vaz, Li-Yun Wang, Dietrich Matern
Liquid Chromatography-Tandem Mass Spectrometry in Newborn Screening Laboratories. International journal of neonatal screening 8 (4) (2022)
Fabiano de Oliveira Poswar, Johanna Henriques Nehm, Francyne Kubaski, Edina Poletto, Roberto Giugliani
Diagnosis and Emerging Treatment Strategies for Mucopolysaccharidosis VII (Sly Syndrome). Therapeutics and clinical risk management 18 (2022)
Francyne Kubaski, Alberto B Burlina, Giulia Polo, Danilo Pereira, Zackary M Herbst, Camilo Silva, Franciele B Trapp, Kristiane Michelin-Tirelli, Franciele Fátima Lopes, Maira G Burin, Ana Carolina Brusius-Facchin, Alice Brinckmann Oliveira Netto, Larissa Faqueti, Gabrielle D Iop, Edina Poletto, Roberto Giugliani
Experience of the NPC Brazil Network with a Comprehensive Program for the Screening and Diagnosis of Niemann-Pick Disease Type C. International journal of neonatal screening 8 (3) (2022)
Fabiano de Oliveira Poswar, Johanna Henriques Nehm, Francyne Kubaski, Edina Poletto, Roberto Giugliani
Diagnosis and Emerging Treatment Strategies for Mucopolysaccharidosis VII (Sly Syndrome). Therapeutics and clinical risk management 18 (2022)
Michael H Gelb, Khaja Basheeruddin, Alberto B Burlina, Hsiao-Jan Chen, Yin-Hsiu Chien, George Dizikes, Mary Christine Dorley, Roberto Giugliani, Amy Hietala, Xinying Hong, Shu-Min Kao, Hamid Khaledi, Tracy Klug, Francyne Kubaski, Hsuan-Chieh Liao, Monica Martin, Adrienne Manning, Joseph Orsini, Yin Peng, Enzo Ranieri, Andreas Rohrwasser, Nicolas Szabo-Fresnais, Coleman T Turgeon, Frédérick M Vaz, Li-Yun Wang, Dietrich Matern
Liquid Chromatography-Tandem Mass Spectrometry in Newborn Screening Laboratories. International journal of neonatal screening 8 (4) (2022)
Moein Mobini, Shabnam Radbakhsh, Francyne Kubaski, Peyman Eshraghi, Saba Vakili, Rahim Vakili, Manijeh Khalili, Majid Varesvazirian, Tannaz Jamialahmadi, Seyed Ali Alamdaran, Seyed Javad Sayedi, Omid Rajabi, Seyed Ahmad Emami, Željko Reiner, Amir Hossein Sahebkar
Impact of Intravenous Trehalose Administration in Patients with Niemann-Pick Disease Types A and B. Journal of clinical medicine 11 (1) (2022)
Michael H Gelb, Khaja Basheeruddin, Alberto B Burlina, Hsiao-Jan Chen, Yin-Hsiu Chien, George Dizikes, Mary Christine Dorley, Roberto Giugliani, Amy Hietala, Xinying Hong, Shu-Min Kao, Hamid Khaledi, Tracy Klug, Francyne Kubaski, Hsuan-Chieh Liao, Monica Martin, Adrienne Manning, Joseph Orsini, Yin Peng, Enzo Ranieri, Andreas Rohrwasser, Nicolas Szabo-Fresnais, Coleman T Turgeon, Frédérick M Vaz, Li-Yun Wang, Dietrich Matern
Liquid Chromatography-Tandem Mass Spectrometry in Newborn Screening Laboratories. International journal of neonatal screening 8 (4) (2022)
Fernanda Medeiros Sebastião, Kristiane Michelin-Tirelli, Fernanda Bender, Franciele Fátima Lopes, Inamara Moraes, Francyne Kubaski, Roberto Giugliani, Maira Burin
COVID-19 impact on the diagnosis of Inborn Errors of Metabolism: Data from a reference center in Brazil. Genetics and molecular biology 45 (1) (2021)
Yorran Hardman Araújo Montenegro, Carolina Fischinger Moura de Souza, Francyne Kubaski, Franciele Barbosa Trapp, Maira Graeff Burin, Kristiane Michelin-Tirelli, Sandra Leistner-Segal, Ana Carolina Brusius Facchin, Fernanda S Medeiros, Luciana Giugliani, Erlane Marques Ribeiro, Charles Marques Lourenço, Augusto César Cardoso Dos Santos, Márcia Gonçalves Ribeiro, Chong Ae Kim, Matheus Augusto Araujo Castro, Emília Katiane Embiruçu, Carlos Eduardo Steiner, Maria Lucia Castro Moreira, Hector Quintero Montano, Guilherme Baldo, Roberto Giugliani
Sanfilippo syndrome type B: Analysis of patients diagnosed by the MPS Brazil Network. American journal of medical genetics. Part A (2021)
Francyne Kubaski, Inês Sousa, Tatiana Amorim, Danilo Pereira, Joe Trometer, Alexandre Souza, Enzo Ranieri, Giulia Polo, Alberto B Burlina, Ana Carolina Brusius-Facchin, Alice Brinckmann Oliveira Netto, Shunji Tomatsu, Roberto Giugliani
Neonatal Screening for MPS Disorders in Latin America: A Survey of Pilot Initiatives. International journal of neonatal screening 6 (4) (2020)
Filippo Pinto E Vairo, Diana Rojas Málaga, Francyne Kubaski, Carolina Fischinger Moura de Souza, Fabiano de Oliveira Poswar, Guilherme Baldo, Roberto Giugliani
Precision Medicine for Lysosomal Disorders. Biomolecules 10 (8) (2020)
Francyne Kubaski, Fabiano de Oliveira Poswar, Kristiane Michelin-Tirelli, Maira Graeff Burin, Diana Rojas Málaga, Ana Carolina Brusius-Facchin, Sandra Leistner-Segal, Roberto Giugliani
Diagnosis of Mucopolysaccharidoses. Diagnostics (Basel, Switzerland) 10 (3) (2020)
Francyne Kubaski, Fabiano de Oliveira Poswar, Kristiane Michelin-Tirelli, Ursula da Silveira Matte, Dafne D Horovitz, Anneliese Lopes Barth, Guilherme Baldo, Filippo Pinto E Vairo, Roberto Giugliani
Mucopolysaccharidosis Type I. Diagnostics (Basel, Switzerland) 10 (3) (2020)
Fernanda Bender, Maira G Burin, Kristiane M Tirelli, Fernanda Medeiros, Fernanda Hendges de Bitencourt, Gabriel Civallero, Francyne Kubaski, Heydy Bravo, Antoine Daher, Vanessa Carnier, José F S Franco, Roberto Giugliani
Newborn screening for lysosomal disorders in Brazil: A pilot study using customized fluorimetric assays. Genetics and molecular biology 43 (2) (2020)
Roberto Giugliani, Fernanda Bender, Rowena Couto, Aline Bochernitsan, Ana Carolina Brusius-Facchin, Maira Burin, Tatiana Amorim, Angelina Xavier Acosta, Antônio Purificação, Sandra Leistner-Segal, Maria-Luiza Saraiva-Pereira, Laura Bannach Jardim, Ursula Matte, Mariluce Riegel, Augusto César Cardoso-Dos-Santos, Graziella Rodrigues, Marcelo Zagonel de Oliveira, Alice Tagliani-Ribeiro, Selia Heck, Vanusa Dresch, Lavínia Schuler Faccini, Francyne Kubaski
Population medical genetics: translating science to the community. Genetics and molecular biology 42 (1 suppl 1) (2019)
Fabiano de Oliveira Poswar, Filippo Pinto E Vairo, Maira Burin, Kristiane Michelin-Tirelli, Ana Carolina Brusius-Facchin, Francyne Kubaski, Carolina Fischinger Moura de Souza, Guilherme Baldo, Roberto Giugliani
Lysosomal diseases: Overview on current diagnosis and treatment. Genetics and molecular biology 42 (1 suppl 1) (2019)
Isabella Azario, Alice Pievani, Federica Del Priore, Laura Antolini, Ludovica Santi, Alessandro Corsi, Lucia Cardinale, Kazuki Sawamoto, Francyne Kubaski, Bernhard Gentner, Maria Ester Bernardo, Maria Grazia Valsecchi, Mara Riminucci, Shunji Tomatsu, Alessandro Aiuti, Andrea Biondi, Marta Serafini
Neonatal umbilical cord blood transplantation halts skeletal disease progression in the murine model of MPS-I. Scientific reports 7 (1) (2017)
Francyne Kubaski, Ana Carolina Brusius-Facchin, Robert W Mason, Pravin Patel, Maira G Burin, Kristiane Michelin-Tirelli, Rejane Gus Kessler, Fernanda Bender, Sandra Leistner-Segal, Carolina A Moreno, Denise P Cavalcanti, Roberto Giugliani, Shunji Tomatsu
Elevation of glycosaminoglycans in the amniotic fluid of a fetus with mucopolysaccharidosis VII. Prenatal diagnosis 37 (5) (2017)

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Publication Activity (10 Years)

Top Topics

Top Venues

Francyne Kubaski