Sónia Alexandra Albino da Silva Custódio
AuthID: R-001-H1M
1
TITLE: 46,XY DISORDER OF SEX DEVELOPMENT DUE TO LHCGR COPY LOSS IN AOH REGION Full Text
AUTHORS: Custodio, Sonia; Raquel; Eva, Rodrigues; Rosario, Rolo; Patricia, Silveira Santos; Ana, Dias; Sousa, Sousa Ana B.;
PUBLISHED: 2023, SOURCE: 26th Annual Meeting of the Portuguese-Society-of-Human-Genetics (SPGH) in MEDICINE, VOLUME: 102, ISSUE: 13
AUTHORS: Custodio, Sonia; Raquel; Eva, Rodrigues; Rosario, Rolo; Patricia, Silveira Santos; Ana, Dias; Sousa, Sousa Ana B.;
PUBLISHED: 2023, SOURCE: 26th Annual Meeting of the Portuguese-Society-of-Human-Genetics (SPGH) in MEDICINE, VOLUME: 102, ISSUE: 13
INDEXED IN: 
WOS
WOS2
TITLE: CONGENITAL HEART DEFECTS DETECTED IN PRENATAL CARE AT HOSPITAL SANTA MARIA-6-YEAR RETROSPECTIVE ANALYSIS Full Text
AUTHORS: Silva, Raquel G.; Rebelo, Monica; Moldovan, Oana; Araujo, Ana R.; Dupont, Juliette; Dias, Patricia; Rodrigues, Marcia; Sa, Mariana S. E.; Travessa, Andre; Soares, Marta P.; Custodio, Sonia; Santos, Rosario S.; Rodrigues, Raquel; Rolo, Eva; Sousa, Ana C.; Sousa, Ana B.;
PUBLISHED: 2023, SOURCE: 26th Annual Meeting of the Portuguese-Society-of-Human-Genetics (SPGH) in MEDICINE, VOLUME: 102, ISSUE: 13
AUTHORS: Silva, Raquel G.; Rebelo, Monica; Moldovan, Oana; Araujo, Ana R.; Dupont, Juliette; Dias, Patricia; Rodrigues, Marcia; Sa, Mariana S. E.; Travessa, Andre; Soares, Marta P.; Custodio, Sonia; Santos, Rosario S.; Rodrigues, Raquel; Rolo, Eva; Sousa, Ana C.; Sousa, Ana B.;
PUBLISHED: 2023, SOURCE: 26th Annual Meeting of the Portuguese-Society-of-Human-Genetics (SPGH) in MEDICINE, VOLUME: 102, ISSUE: 13
INDEXED IN: WOS
WOS3
TITLE: XQ28 AND BLUE CONE MONOCHROMACY: A HEMIZYGOUS DELETION INCLUDING OPN1LW AND OPN1MW Full Text
AUTHORS: Rolo, Eva; Custodio, Sonia; Neves, Mariana T.; Dias, Patricia; Sousa, Ana; Sousa, Ana B.;
PUBLISHED: 2023, SOURCE: 26th Annual Meeting of the Portuguese-Society-of-Human-Genetics (SPGH) in MEDICINE, VOLUME: 102, ISSUE: 13
AUTHORS: Rolo, Eva; Custodio, Sonia; Neves, Mariana T.; Dias, Patricia; Sousa, Ana; Sousa, Ana B.;
PUBLISHED: 2023, SOURCE: 26th Annual Meeting of the Portuguese-Society-of-Human-Genetics (SPGH) in MEDICINE, VOLUME: 102, ISSUE: 13
INDEXED IN: WOS
WOS4
TITLE: The first genetic landscape of inherited retinal dystrophies in Portuguese patients identifies recurrent homozygous mutations as a frequent cause of pathogenesis
AUTHORS: Peter, Virginie G.; Kaminska, Karolina; Santos, Cristina; Quinodoz, Mathieu; Cancellieri, Francesca; Cisarova, Katarina; Gobert, Rosanna Pescini; Rodrigues, Raquel; Custodio, Sonia; Paris, Liliana P.; Sousa, Ana Berta; Santos, Luisa Coutinho; Rivolta, Carlo;
PUBLISHED: 2023, SOURCE: PNAS NEXUS, VOLUME: 2, ISSUE: 3
AUTHORS: Peter, Virginie G.; Kaminska, Karolina; Santos, Cristina; Quinodoz, Mathieu; Cancellieri, Francesca; Cisarova, Katarina; Gobert, Rosanna Pescini; Rodrigues, Raquel; Custodio, Sonia; Paris, Liliana P.; Sousa, Ana Berta; Santos, Luisa Coutinho; Rivolta, Carlo;
PUBLISHED: 2023, SOURCE: PNAS NEXUS, VOLUME: 2, ISSUE: 3
INDEXED IN: WOS
WOS5
TITLE: Looking back on copy gains: a retrospective review of clinical relevance and structural mechanisms
AUTHORS: Custodio, Sonia; Silveira Santos, Rosario; Rodrigues, Raquel; Rolo, Eva; Dupont, Juliette; Dias, Patricia; Moldovan, Oana; Machado, Catarina; Rodrigues, Marcia; Sa, Mariana Soeiro; Travessa, Andre; Alves, Joao Rodrigues; Silva, Raquel Gouveia; Sousa, Ana Berta; Sousa, Ana;
PUBLISHED: 2022, SOURCE: EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 30, ISSUE: SUPPL 1
AUTHORS: Custodio, Sonia; Silveira Santos, Rosario; Rodrigues, Raquel; Rolo, Eva; Dupont, Juliette; Dias, Patricia; Moldovan, Oana; Machado, Catarina; Rodrigues, Marcia; Sa, Mariana Soeiro; Travessa, Andre; Alves, Joao Rodrigues; Silva, Raquel Gouveia; Sousa, Ana Berta; Sousa, Ana;
PUBLISHED: 2022, SOURCE: EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 30, ISSUE: SUPPL 1
INDEXED IN: WOS
WOS6
TITLE: TO REPORT OR NOT TO REPORT?-15Q11.2 (BP1-BP2) RECURRENT MICRODELETION Full Text
AUTHORS: Custodio, Sonia; Macedo, Catarina; Silveira Santos, Rosario; Rodrigues, Raquel; Rolo, Eva; Sousa, Ana Berta; Sousa, Ana;
PUBLISHED: 2022, SOURCE: MEDICINE, VOLUME: 101, ISSUE: 30
AUTHORS: Custodio, Sonia; Macedo, Catarina; Silveira Santos, Rosario; Rodrigues, Raquel; Rolo, Eva; Sousa, Ana Berta; Sousa, Ana;
PUBLISHED: 2022, SOURCE: MEDICINE, VOLUME: 101, ISSUE: 30
INDEXED IN: WOS
WOS7
TITLE: STAG1 haploinsufficiency an emerging phenotype Full Text
AUTHORS: Ana Sousa; Sonia Custodio; Andre Travessa; Ana Berta Sousa;
PUBLISHED: 2019, SOURCE: MOLECULAR CYTOGENETICS, VOLUME: 12
AUTHORS: Ana Sousa; Sonia Custodio; Andre Travessa; Ana Berta Sousa;
PUBLISHED: 2019, SOURCE: MOLECULAR CYTOGENETICS, VOLUME: 12
INDEXED IN: WOS
WOS8
TITLE: TBL1XR1 single gene CNV: copy loss in mother and daughter with ID and ADHD Full Text
AUTHORS: Sonia Custodio; Rosario Silveira Santos; Oana Moldovan; Ana Sousa; Ana Berta Sousa;
PUBLISHED: 2019, SOURCE: 22nd Annual Meeting of the Portuguese-Society-of-Human-Genetics (SPGH) in MEDICINE, VOLUME: 98, ISSUE: 26
AUTHORS: Sonia Custodio; Rosario Silveira Santos; Oana Moldovan; Ana Sousa; Ana Berta Sousa;
PUBLISHED: 2019, SOURCE: 22nd Annual Meeting of the Portuguese-Society-of-Human-Genetics (SPGH) in MEDICINE, VOLUME: 98, ISSUE: 26
INDEXED IN: WOS
WOS9
TITLE: Characterization of five new patients with AUTS2 deletions detected by aCGH Full Text
AUTHORS: Sonia Custodio; Ana Sousa; Rosario Silveira Santos; Silvia Serafim; Oana Moldovan; Juliette Dupont; Patricia Dias; Ana Berta Sousa;
PUBLISHED: 2017, SOURCE: MOLECULAR CYTOGENETICS, VOLUME: 10
AUTHORS: Sonia Custodio; Ana Sousa; Rosario Silveira Santos; Silvia Serafim; Oana Moldovan; Juliette Dupont; Patricia Dias; Ana Berta Sousa;
PUBLISHED: 2017, SOURCE: MOLECULAR CYTOGENETICS, VOLUME: 10
INDEXED IN: WOS
WOS10
TITLE: 5q distal deletion detected by arrayCGH in a girl with learning disability and congenital anomalies Full Text
AUTHORS: Sonia Custodio; Silvia Serafim; Ana Sousa; Rosario Silveira Santos; Ana Berta Sousa;
PUBLISHED: 2015, SOURCE: CHROMOSOME RESEARCH, VOLUME: 23
AUTHORS: Sonia Custodio; Silvia Serafim; Ana Sousa; Rosario Silveira Santos; Ana Berta Sousa;
PUBLISHED: 2015, SOURCE: CHROMOSOME RESEARCH, VOLUME: 23
INDEXED IN: WOS
WOS