Ana Berta da Fonseca Vieira Álvares e Sousa Ferrand de Almeida


AuthID: R-002-8QK

Publications Requiring Validation

1
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.; Jacob, Julie; Vermeer, Sascha; Terbeek, Frederique; Feltgen, Nicolas; Moulin, Alexandre P.; Koutroumanou, Louisa; Papadakis, George; Browning, Andrew C.; Madhusudhan, Savita; Granse, Lotta; Banin, Eyal; Sousa, Ana Berta; Santos, Luisa Coutinho; Kuehlewein, Laura; De Angeli, Pietro; Leroy, Bart P.; Mahroo, Omar A.; Sedgwick, Fay; Eden, James; Pfau, Maximilian; Andreasson, Sten; Scholl, Hendrik P. N.; Ayuso, Carmen; Millan, Jose M.; Sharon, Dror; Tsilimbaris, Miltiadis K.; Vaclavik, Veronika; Tran, Hoai, V; Ben Yosef, Tamar; De Baere, Elfride; Webster, Andrew R.; Arno, Gavin; Sergouniotis, Panagiotis I.; Kohl, Susanne; Santos, Cristina; Rivolta, Carlo; ...More
PUBLISHED: 2025, SOURCE: AMERICAN JOURNAL OF HUMAN GENETICS, VOLUME: 112, ISSUE: 4
INDEXED IN: Scopus WOS CrossRef
IN MY: ORCID
2
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
INDEXED IN: Scopus WOS CrossRef: 1
IN MY: ORCID
3
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
INDEXED IN: WOS CrossRef
IN MY: ORCID
4
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; Santos, Cristina; Rehman, Atta Ur; Mehrotra, Sudeep; Baig, Hafiz Muhammad Azhar; Iqbal, Muhammad; Nsar, Muhammad A.; Santos, Luisa Coutinho; Sousa, Ana Berta; Tran, Viet H.; Matsui, Hiroko; Bhatia, Anjana; Naeem, Muhammad Asif; Akram, Shehla J.; Akram, Javed; Riazuddin, Sheikh; Ayuso, Carmen; Pierce, Eric A.; Hardcastle, Alison J.; Riazuddin, S. Amer; Frazer, Kelly A.; Hejtmancik, J. Fielding; Rivolta, Carlo; Bujakowska, Kinga M.; Arno, Gavin; Webster, Andrew R.; Ayyagari, Radha; ...More
PUBLISHED: 2024, SOURCE: AMERICAN JOURNAL OF HUMAN GENETICS, VOLUME: 111, ISSUE: 9
INDEXED IN: Scopus WOS
5
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
INDEXED IN: Scopus WOS CrossRef
IN MY: ORCID
6
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; Santos, Luisa Coutinho; Gitiaux, Cyril; Kaminska, Karolina; Kuentz, Paul; Orenstein, Naama; Philip Sarles, Nicole; Plutino, Morgane; Quinodoz, Mathieu; Santos, Cristina; Sigaudy, Sabine; Soeiro e Sa, Mariana; Sofrin, Efrat; Sousa, Ana Berta; Sousa Luis, Rui; Thauvin Robinet, Christel; van Dijk, Erwin L.; Zaafrane Khachnaoui, Khaoula; Zur, Dinah; Kaplan, Josseline; Rivolta, Carlo; Rozet, Jean Michel; Perrault, Isabelle; ...More
PUBLISHED: 2024, SOURCE: NATURE COMMUNICATIONS, VOLUME: 15, ISSUE: 1
INDEXED IN: Scopus WOS CrossRef
IN MY: ORCID
7
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
INDEXED IN: Scopus WOS CrossRef
IN MY: ORCID
8
TITLE: Substitution of a single non-coding nucleotide upstream of TMEM216 causes non-syndromic retinitis pigmentosa and is associated with reduced TMEM216 expression
AUTHORS: Samantha Malka; Pooja Biswas; Anne-Marie Berry; Riccardo Sangermano; Mukhtar Ullah; Siying Lin; Matteo D’Antonio; Aleksandr Jestin; Xiaodong Jiao; Mathieu Quinodoz; Lori Sullivan; Jessica C Gardner; Emily M Place; Michel Michaelides; Karolina Kaminska; Omar A Mahroo; Elena Schiff; Genevieve Wright; Francesca Cancellieri; Veronika Vaclavik; Cristina Santos; Atta Ur Rehman; Sudeep Mehrotra; Hafiz Muhammad Azhar Baig; Muhammad Iqbal; Muhammad Ansar; Luisa Coutinho Santos; Ana Berta Sousa; Viet H Tran; Hiroko Matsui; Anjana Bhatia; Muhammad Asif Naeem; Shehla J Akram; Javed Akram; Sheikh Riazuddin; Carmen Ayuso; Eric A Pierce; Alison J Hardcastle; Amer A Riazuddin; Kelly A Frazer; Fielding F Hejtmancik; Carlo Rivolta; Kinga M Bujakowska; Gavin Arno; Andrew R Webster; Radha Ayyagari; ...More
PUBLISHED: 2024, SOURCE: The American Journal of Human Genetics, VOLUME: 111, ISSUE: 9
INDEXED IN: CrossRef: 4
IN MY: ORCID
9
TITLE: Clinical characterization of a patient with CNOT2 haploinsufficiency caused by a de novo partial deletion
AUTHORS: Rodrigues, Raquel; Sa, Mariana; Sousa, Ana; Sousa, Ana Berta;
PUBLISHED: 2023, SOURCE: CLINICAL DYSMORPHOLOGY, VOLUME: 32, ISSUE: 2
INDEXED IN: Scopus WOS CrossRef
IN MY: ORCID
10
TITLE: A NOVEL LIKELY PATHOGENIC VARIANT IN KIF1A-A NEW CASE OF NESCAV SYNDROME  Full Text
AUTHORS: Macedo, Catarina; Soeiro e Sa, Mariana; Sousa, Ana Berta;
PUBLISHED: 2023, SOURCE: 26th Annual Meeting of the Portuguese-Society-of-Human-Genetics (SPGH) in MEDICINE, VOLUME: 102, ISSUE: 13
INDEXED IN: WOS
Page 1 of 8. Total results: 77.

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