Ana Berta da Fonseca Vieira Álvares e Sousa Ferrand de Almeida
AuthID: R-002-8QK
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TITLE: WHOLE-EXOME SEQUENCING AT A PORTUGUESE MEDICAL GENETICS CENTRE: 883 CASES OVER AN 8-YEAR PERIOD Full Text
AUTHORS: Pinho, Sara; Silva, Raquel Gouveia; Macedo, Catarina; Neves, Mariana; Soares, Marta; Travessa, Andre; Soeiro e Sa, Mariana; Rodrigues, Marcia; Dias, Patricia; Moldovan, Oana; Dupont, Juliette; Sousa, Ana Berta;
PUBLISHED: 2025, SOURCE: MEDICINE, VOLUME: 104, ISSUE: 4
AUTHORS: Pinho, Sara; Silva, Raquel Gouveia; Macedo, Catarina; Neves, Mariana; Soares, Marta; Travessa, Andre; Soeiro e Sa, Mariana; Rodrigues, Marcia; Dias, Patricia; Moldovan, Oana; Dupont, Juliette; Sousa, Ana Berta;
PUBLISHED: 2025, SOURCE: MEDICINE, VOLUME: 104, ISSUE: 4
INDEXED IN: 
WOS
WOS2
TITLE: Bi-allelic variants in three genes encoding distinct subunits of the vesicular AP-5 complex cause hereditary macular dystrophy
AUTHORS: Kaminska, Karolina; Cancellieri, Francesca; Quinodoz, Mathieu; Moye, Abigail R.; Bauwens, Miriam; Lin, Siying; Janeschitz Kriegl, Lucas; Hayman, Tamar; Barberan Martinez, Pilar; Schlaeger, Regina; van den Broeck, Filip; Fernandez, Almudena Avila; Fernandez Caballero, Lidia; Perea Romero, Irene; Garcia Garcia, Gema; Salom, David; Mazzola, Pascale; Zuleger, Theresia; Poths, Karin; Haack, Tobias B.; ...More
PUBLISHED: 2025, SOURCE: AMERICAN JOURNAL OF HUMAN GENETICS, VOLUME: 112, ISSUE: 4
AUTHORS: Kaminska, Karolina; Cancellieri, Francesca; Quinodoz, Mathieu; Moye, Abigail R.; Bauwens, Miriam; Lin, Siying; Janeschitz Kriegl, Lucas; Hayman, Tamar; Barberan Martinez, Pilar; Schlaeger, Regina; van den Broeck, Filip; Fernandez, Almudena Avila; Fernandez Caballero, Lidia; Perea Romero, Irene; Garcia Garcia, Gema; Salom, David; Mazzola, Pascale; Zuleger, Theresia; Poths, Karin; Haack, Tobias B.; ...More
PUBLISHED: 2025, SOURCE: AMERICAN JOURNAL OF HUMAN GENETICS, VOLUME: 112, ISSUE: 4
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TITLE: Zebrafish Avatar testing preclinical study predicts chemotherapy response in breast cancer
AUTHORS: Mendes, Raquel V.; Ribeiro, Joana M.; Gouveia, Helena; de Almeida, Catia Rebelo; Castillo Martin, Mireia; Brito, Maria Jose; Canas Marques, Rita; Batista, Eva; Alves, Celeste; Sousa, Berta; Gouveia, Pedro; Ferreira, Miguel Godinho; Cardoso, Maria Joao; Cardoso, Fatima; Fior, Rita;
PUBLISHED: 2025, SOURCE: NPJ PRECISION ONCOLOGY, VOLUME: 9, ISSUE: 1
AUTHORS: Mendes, Raquel V.; Ribeiro, Joana M.; Gouveia, Helena; de Almeida, Catia Rebelo; Castillo Martin, Mireia; Brito, Maria Jose; Canas Marques, Rita; Batista, Eva; Alves, Celeste; Sousa, Berta; Gouveia, Pedro; Ferreira, Miguel Godinho; Cardoso, Maria Joao; Cardoso, Fatima; Fior, Rita;
PUBLISHED: 2025, SOURCE: NPJ PRECISION ONCOLOGY, VOLUME: 9, ISSUE: 1
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TITLE: Genetic profile of syndromic retinitis pigmentosa in Portugal
AUTHORS: Cortinhal, Telmo; Santos, Cristina; Vaz Pereira, Sara; Marta, Ana; Duarte, Lilianne; Miranda, Vitor; Costa, Jose; Sousa, Ana Berta; Peter, Virginie G.; Kaminska, Karolina; Rivolta, Carlo; Carvalho, Ana Luisa; Saraiva, Jorge; Soares, Celia Azevedo; Silva, Rufino; Murta, Joaquim; Santos, Luisa Coutinho; Marques, Joao Pedro;
PUBLISHED: 2024, SOURCE: GRAEFES ARCHIVE FOR CLINICAL AND EXPERIMENTAL OPHTHALMOLOGY, VOLUME: 262, ISSUE: 6
AUTHORS: Cortinhal, Telmo; Santos, Cristina; Vaz Pereira, Sara; Marta, Ana; Duarte, Lilianne; Miranda, Vitor; Costa, Jose; Sousa, Ana Berta; Peter, Virginie G.; Kaminska, Karolina; Rivolta, Carlo; Carvalho, Ana Luisa; Saraiva, Jorge; Soares, Celia Azevedo; Silva, Rufino; Murta, Joaquim; Santos, Luisa Coutinho; Marques, Joao Pedro;
PUBLISHED: 2024, SOURCE: GRAEFES ARCHIVE FOR CLINICAL AND EXPERIMENTAL OPHTHALMOLOGY, VOLUME: 262, ISSUE: 6
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TITLE: Adult syndromology: challenges, opportunities and perspectives. <i>Illustrated by the description of four adults with Costello syndrome</i> Full Text
AUTHORS: Schmetz, Ariane; Ballesta Martinez, Maria Juliana; Isidor, Bertrand; Sousa, Ana Berta; Wieczorek, Dagmar; Bramswig, Nuria C.;
PUBLISHED: 2024, SOURCE: MEDIZINISCHE GENETIK, VOLUME: 36, ISSUE: 2
AUTHORS: Schmetz, Ariane; Ballesta Martinez, Maria Juliana; Isidor, Bertrand; Sousa, Ana Berta; Wieczorek, Dagmar; Bramswig, Nuria C.;
PUBLISHED: 2024, SOURCE: MEDIZINISCHE GENETIK, VOLUME: 36, ISSUE: 2
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TITLE: Substitution of a single non-coding nucleotide upstream of<i> TMEM216</i> causes non-syndromic retinitis pigmentosa and is associated with reduced<i> TMEM216</i> expression
AUTHORS: Malka, Samantha; Biswas, Pooja; Berry, Anne Marie; Sangermano, Riccardo; Ullah, Mukhtar; Lin, Siying; D'Antonio, Matteo; Jestin, Aleksandr; Jiao, Xiaodong; Quinodoz, Mathieu; Sullivan, Lori; Gardner, Jessica C.; Place, Emily M.; Michaelides, Michel; Kaminska, Karolina; Mahroo, Omar A.; Schiff, Elena; Wright, Genevieve; Cancellieri, Francesca; Vaclavik, Veronika; ...More
PUBLISHED: 2024, SOURCE: AMERICAN JOURNAL OF HUMAN GENETICS, VOLUME: 111, ISSUE: 9
AUTHORS: Malka, Samantha; Biswas, Pooja; Berry, Anne Marie; Sangermano, Riccardo; Ullah, Mukhtar; Lin, Siying; D'Antonio, Matteo; Jestin, Aleksandr; Jiao, Xiaodong; Quinodoz, Mathieu; Sullivan, Lori; Gardner, Jessica C.; Place, Emily M.; Michaelides, Michel; Kaminska, Karolina; Mahroo, Omar A.; Schiff, Elena; Wright, Genevieve; Cancellieri, Francesca; Vaclavik, Veronika; ...More
PUBLISHED: 2024, SOURCE: AMERICAN JOURNAL OF HUMAN GENETICS, VOLUME: 111, ISSUE: 9
INDEXED IN: 
Scopus WOS
Scopus WOS7
TITLE: Bi-allelic variants in COQ8B, a gene involved in the biosynthesis of coenzyme Q10, lead to non-syndromic retinitis pigmentosa
AUTHORS: Iglesias Romero, Ana Belen; Kaminska, Karolina; Quinodoz, Mathieu; Folcher, Marc; Lin, Siying; Arno, Gavin; Calado, Joaquim; Webster, Andrew R.; Moulin, Alexandre; Sousa, Ana Berta; Coutinho Santos, Luisa; Santos, Cristina; Rivolta, Carlo;
PUBLISHED: 2024, SOURCE: AMERICAN JOURNAL OF HUMAN GENETICS, VOLUME: 111, ISSUE: 10
AUTHORS: Iglesias Romero, Ana Belen; Kaminska, Karolina; Quinodoz, Mathieu; Folcher, Marc; Lin, Siying; Arno, Gavin; Calado, Joaquim; Webster, Andrew R.; Moulin, Alexandre; Sousa, Ana Berta; Coutinho Santos, Luisa; Santos, Cristina; Rivolta, Carlo;
PUBLISHED: 2024, SOURCE: AMERICAN JOURNAL OF HUMAN GENETICS, VOLUME: 111, ISSUE: 10
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TITLE: The Impact of the COVID-19 Pandemic on Mental Health and Cognitive Function in Patients With Cancer: A Systematic Literature Review
AUTHORS: Almeida, Silvia; Frasquilho, Diana; Cordeiro, M. Teresa; Neto, Teresa; Sousa, Berta; Cardoso, Fatima; Oliveira Maia, Albino J.;
PUBLISHED: 2024, SOURCE: CANCER REPORTS, VOLUME: 7, ISSUE: 10
AUTHORS: Almeida, Silvia; Frasquilho, Diana; Cordeiro, M. Teresa; Neto, Teresa; Sousa, Berta; Cardoso, Fatima; Oliveira Maia, Albino J.;
PUBLISHED: 2024, SOURCE: CANCER REPORTS, VOLUME: 7, ISSUE: 10
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TITLE: GPATCH11 variants cause mis-splicing and early-onset retinal dystrophy with neurological impairment
AUTHORS: Zanetti, Andrea; Dujardin, Gwendal; Fares Taie, Lucas; Amiel, Jeanne; Roger, Jerome E.; Audo, Isabelle; Robert, Matthieu P.; David, Pierre; Jung, Vincent; Goudin, Nicolas; Guerrera, Ida Chiara; Moriceau, Stephanie; Amana, Danielle; Assia Batzir, Nurit; Bachar Zipori, Anat; Salmon, Lina Basel; Boddaert, Nathalie; Briault, Sylvain; Bruel, Ange Line; Costet Fighiera, Christine; ...More
PUBLISHED: 2024, SOURCE: NATURE COMMUNICATIONS, VOLUME: 15, ISSUE: 1
AUTHORS: Zanetti, Andrea; Dujardin, Gwendal; Fares Taie, Lucas; Amiel, Jeanne; Roger, Jerome E.; Audo, Isabelle; Robert, Matthieu P.; David, Pierre; Jung, Vincent; Goudin, Nicolas; Guerrera, Ida Chiara; Moriceau, Stephanie; Amana, Danielle; Assia Batzir, Nurit; Bachar Zipori, Anat; Salmon, Lina Basel; Boddaert, Nathalie; Briault, Sylvain; Bruel, Ange Line; Costet Fighiera, Christine; ...More
PUBLISHED: 2024, SOURCE: NATURE COMMUNICATIONS, VOLUME: 15, ISSUE: 1
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TITLE: Genetic modulation of RNA splicing rescues BRCA2 function in mutant cells
AUTHORS: Lima, Beatriz Anjo; Pais, Ana Carolina; Dupont, Juliette; Dias, Patricia; Custodio, Noelia; Sousa, Ana Berta; Carmo Fonseca, Maria ; Carvalho, Celia;
PUBLISHED: 2024, SOURCE: LIFE SCIENCE ALLIANCE, VOLUME: 8, ISSUE: 3
AUTHORS: Lima, Beatriz Anjo; Pais, Ana Carolina; Dupont, Juliette; Dias, Patricia; Custodio, Noelia; Sousa, Ana Berta; Carmo Fonseca, Maria ; Carvalho, Celia;
PUBLISHED: 2024, SOURCE: LIFE SCIENCE ALLIANCE, VOLUME: 8, ISSUE: 3
