Gabriela M Repetto (Gabriela Repetto)

ResearcherID ORCID

Publication Activity (10 Years)

Years Active: 2014-2024
Publications (10 Years): 19

Top Venues

Human molecular genetics

Genes

International journal of molecular sciences

European journal of human genetics : EJHG

Universidad del Desarrollo

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

Affiliation History

Universidad del Desarrollo Mar 01 2003

Chile

Professor :: Center for Genetics and Genomics, Facultad de Medicina

Publications

Murat Alpaslan, Elodie Fastré, Sandrine Mestre, Arie van Haeringen, Gabriela M Repetto, Kathelijn Keymolen, Laurence M Boon, Florence Belva, Guido Giacalone, Nicole Revencu, Yves Sznajer, Katie Riches, Vaughan Keeley, Shehla Mohammed, Kristiana Gordon, Silvia Martin-Almedina, Sara E Dobbins, Pia Ostergaard, Isabelle Quéré, Pascal Brouillard, Miikka Vikkula
Pathogenic variants in HGF give rise to childhood-to-late onset primary lymphoedema by loss of function. Human molecular genetics 33 (14) (2024)
Murat Alpaslan, Elodie Fastré, Sandrine Mestre, Arie van Haeringen, Gabriela M Repetto, Kathelijn Keymolen, Laurence M Boon, Florence Belva, Guido Giacalone, Nicole Revencu, Yves Sznajer, Katie Riches, Vaughan Keeley, Shehla Mohammed, Kristiana Gordon, Silvia Martin-Almedina, Sara E Dobbins, Pia Ostergaard, Isabelle Quéré, Pascal Brouillard, Miikka Vikkula
Pathogenic variants in HGF give rise to childhood-to-late onset primary lymphoedema by loss of function. Human molecular genetics 33 (14) (2024)
Murat Alpaslan, Elodie Fastré, Sandrine Mestre, Arie van Haeringen, Gabriela M Repetto, Kathelijn Keymolen, Laurence M Boon, Florence Belva, Guido Giacalone, Nicole Revencu, Yves Sznajer, Katie Riches, Vaughan Keeley, Shehla Mohammed, Kristiana Gordon, Silvia Martin-Almedina, Sara E Dobbins, Pia Ostergaard, Isabelle Quéré, Pascal Brouillard, Miikka Vikkula
Pathogenic variants in HGF give rise to childhood-to-late onset primary lymphoedema by loss of function. Human molecular genetics 33 (14) (2024)
Murat Alpaslan, Elodie Fastré, Sandrine Mestre, Arie van Haeringen, Gabriela M Repetto, Kathelijn Keymolen, Laurence M Boon, Florence Belva, Guido Giacalone, Nicole Revencu, Yves Sznajer, Katie Riches, Vaughan Keeley, Shehla Mohammed, Kristiana Gordon, Silvia Martin-Almedina, Sara E Dobbins, Pia Ostergaard, Isabelle Quéré, Pascal Brouillard, Miikka Vikkula
Pathogenic variants in HGF give rise to childhood-to-late onset primary lymphoedema by loss of function. Human molecular genetics 33 (14) (2024)
M Cecilia Poli, Boris Rebolledo-Jaramillo, Catalina Lagos, Joan Orellana, Gabriela Moreno, Luz M Martín, Gonzalo Encina, Daniela Böhme, Víctor Faundes, M Jesús Zavala, Maria Trinidad Hasbun, Sara Fischer, Florencia Brito, Diego Araya, Manuel Lira, Javiera de la Cruz, Camila Astudillo, Guillermo Lay-Son, Carolina Cares, Mariana Aracena, Esteban San Martin, Zeynep Coban-Akdemir, Jennifer E Posey, James R. Lupski, Gabriela M Repetto
Decoding complex inherited phenotypes in rare disorders: the DECIPHERD initiative for rare undiagnosed diseases in Chile. European journal of human genetics : EJHG (2024)
M Cecilia Poli, Boris Rebolledo-Jaramillo, Catalina Lagos, Joan Orellana, Gabriela Moreno, Luz M Martín, Gonzalo Encina, Daniela Böhme, Víctor Faundes, M Jesús Zavala, Maria Trinidad Hasbun, Sara Fischer, Florencia Brito, Diego Araya, Manuel Lira, Javiera de la Cruz, Camila Astudillo, Guillermo Lay-Son, Carolina Cares, Mariana Aracena, Esteban San Martin, Zeynep Coban-Akdemir, Jennifer E Posey, James R. Lupski, Gabriela M Repetto
Decoding complex inherited phenotypes in rare disorders: the DECIPHERD initiative for rare undiagnosed diseases in Chile. European journal of human genetics : EJHG (2024)
Murat Alpaslan, Elodie Fastré, Sandrine Mestre, Arie van Haeringen, Gabriela M Repetto, Kathelijn Keymolen, Laurence M Boon, Florence Belva, Guido Giacalone, Nicole Revencu, Yves Sznajer, Katie Riches, Vaughan Keeley, Shehla Mohammed, Kristiana Gordon, Silvia Martin-Almedina, Sara E Dobbins, Pia Ostergaard, Isabelle Quéré, Pascal Brouillard, Miikka Vikkula
Pathogenic variants in HGF give rise to childhood-to-late onset primary lymphoedema by loss of function. Human molecular genetics (2024)
Luis Vergara-Gómez, Carolina Bizama, Jun Zhong, Kurt Buchegger, Felipe Suárez, Lorena Rosa, Carmen Gloria Ili, Helga Weber, Javiera Obreque, Karena Espinoza, Gabriela M Repetto, Juan Carlos Roa, Pamela Leal, Patricia García
A Novel Gemcitabine-Resistant Gallbladder Cancer Model Provides Insights into Molecular Changes Occurring during Acquired Resistance. International journal of molecular sciences 24 (8) (2023)
Lauren K White, Terrence Blaine Crowley, Brenda Finucane, Emily J McClellan, Sarah Donoghue, Sixto Garcia-Minaur, Gabriela M Repetto, Matthias Fischer, Sebastien Jacquemont, Raquel E Gur, Anne Manuela Maillard, Kirsten Ann Donald, Anne Susan Bassett, Ann Swillen, Donna M McDonald-McGinn
Gathering the Stakeholder's Perspective: Experiences and Opportunities in Rare Genetic Disease Research. Genes 14 (1) (2023)
Lauren K White, Terrence Blaine Crowley, Brenda Finucane, Emily J McClellan, Sarah Donoghue, Sixto Garcia-Minaur, Gabriela M Repetto, Matthias Fischer, Sebastien Jacquemont, Raquel E Gur, Anne Manuela Maillard, Kirsten Ann Donald, Anne Susan Bassett, Ann Swillen, Donna M McDonald-McGinn
Gathering the Stakeholder's Perspective: Experiences and Opportunities in Rare Genetic Disease Research. Genes 14 (1) (2023)
Lauren K White, Terrence Blaine Crowley, Brenda Finucane, Emily J McClellan, Sarah Donoghue, Sixto Garcia-Minaur, Gabriela M Repetto, Matthias Fischer, Sebastien Jacquemont, Raquel E Gur, Anne Manuela Maillard, Kirsten Ann Donald, Anne Susan Bassett, Ann Swillen, Donna M McDonald-McGinn
Gathering the Stakeholder's Perspective: Experiences and Opportunities in Rare Genetic Disease Research. Genes 14 (1) (2023)
Luis Vergara-Gómez, Carolina Bizama, Jun Zhong, Kurt Buchegger, Felipe Suárez, Lorena Rosa, Carmen Gloria Ili, Helga Weber, Javiera Obreque, Karena Espinoza, Gabriela M Repetto, Juan Carlos Roa, Pamela Leal, Patricia García
A Novel Gemcitabine-Resistant Gallbladder Cancer Model Provides Insights into Molecular Changes Occurring during Acquired Resistance. International journal of molecular sciences 24 (8) (2023)
Luis Vergara-Gómez, Carolina Bizama, Jun Zhong, Kurt Buchegger, Felipe Suárez, Lorena Rosa, Carmen Gloria Ili, Helga Weber, Javiera Obreque, Karena Espinoza, Gabriela M Repetto, Juan Carlos Roa, Pamela Leal, Patricia García
A Novel Gemcitabine-Resistant Gallbladder Cancer Model Provides Insights into Molecular Changes Occurring during Acquired Resistance. International journal of molecular sciences 24 (8) (2023)
Yanireth Jimenez, Cesar Paulsen, Eduardo Turner, Sebastian Iturra, Oscar Cuevas, Guillermo Lay-Son, Gabriela M Repetto, Marcelo Rojas, Juan Francisco Calderón
Exome Sequencing Identifies Genetic Variants Associated with Extreme Manifestations of the Cardiovascular Phenotype in Marfan Syndrome. Genes 13 (6) (2022)
Boris Rebolledo-Jaramillo, Maria Gabriela Obregon, Victoria Huckstadt, Abel Gomez, Gabriela M Repetto
Contribution of Mitochondrial DNA Heteroplasmy to the Congenital Cardiac and Palatal Phenotypic Variability in Maternally Transmitted 22q11.2 Deletion Syndrome. Genes 12 (1) (2021)
Sonja Neuser, Barbara Brechmann, Gali Heimer, Ines Brösse, Susanna Schubert, Lauren O'Grady, Michael Zech, Siddharth Srivastava, David A Sweetser, Yasemin Dincer, Volker Mall, Juliane Winkelmann, Christian Behrends, Basil T Darras, Robert J Graham, Parul Jayakar, Barry Byrne, Bat El Bar-Aluma, Yael Haberman, Amir Szeinberg, Hesham M Aldhalaan, Mais Hashem, Amal Al Tenaiji, Omar Ismayl, Asma E Al Nuaimi, Karima Maher, Shahnaz Ibrahim, Fatima Khan, Henry Houlden, Vijayalakshmi S Ramakumaran, Alistair T Pagnamenta, Jennifer E Posey, James R. Lupski, Wen-Hann Tan, Gehad ElGhazali, Isabella Herman, Tatiana Muñoz, Gabriela M Repetto, Angelika Seitz, Mandy Krumbiegel, Maria Cecilia Poli, Usha Kini, Stephanie Efthymiou, Jens Meiler, Reza Maroofian, Fowzan Sami Alkuraya, Rami Abou Jamra, Bernt Popp, Bruria Ben-Zeev, Darius Ebrahimi-Fakhari
Clinical, neuroimaging, and molecular spectrum of TECPR2-associated hereditary sensory and autonomic neuropathy with intellectual disability. Human mutation 42 (6) (2021)
M Fernanda Rozas, Felipe Benavides, Luis León, Gabriela M Repetto
Association between phenotype and deletion size in 22q11.2 microdeletion syndrome: systematic review and meta-analysis. Orphanet journal of rare diseases 14 (1) (2019)
Gonzalo Encina, Carla Castillo-Laborde, Juan A Lecaros, Karen Dubois-Camacho, Juan F Calderón, Ximena Aguilera, Andrés D Klein, Gabriela M Repetto
Rare diseases in Chile: challenges and recommendations in universal health coverage context. Orphanet journal of rare diseases 14 (1) (2019)
Abraham Urzua, Sofia Burattini, Constanza Pinochet, Felipe Benavides, Gabriela M Repetto
Somatic Mosaicism for Paternal Uniparental Disomy of 11p15.5 Region in Adrenal and Liver Tissues in a Newborn with Atypical Beckwith-Wiedemann Syndrome. Journal of pediatric genetics 8 (4) (2019)
Gabriela M Repetto, M Luisa Guzmán, Iris Delgado, Hugo Loyola, Mirta Palomares, Guillermo Lay-Son, Cecilia Vial, Felipe Benavides, Karena Espinoza, Patricia Alvarez
Case fatality rate and associated factors in patients with 22q11 microdeletion syndrome: a retrospective cohort study. BMJ open 4 (11) (2014)

Gabriela M Repetto.css-eqlu8i{font-size:small;padding-left:4px;} (Gabriela Repetto)

Publication Activity (10 Years)

Top Topics

Top Venues

Gabriela M Repetto (Gabriela Repetto)