João Pedro Cadilhe Marques
AuthID: R-000-7D4
1
TITLE: Portuguese Society of Ophthalmology and Portuguese Society of Human Genetics Joint Clinical Practice Guidelines for Genetic Testing in Inherited Retinal Dystrophies Full Text
AUTHORS: Marques, Joao Pedro; Soares, Celia Azevedo ; Carvalho, Ana Luisa; Estrela Silva, Sergio; Santos, Luisa Coutinho; Ramos, Lina; Silva, Eduardo;
PUBLISHED: 2025, SOURCE: CLINICAL GENETICS
AUTHORS: Marques, Joao Pedro; Soares, Celia Azevedo ; Carvalho, Ana Luisa; Estrela Silva, Sergio; Santos, Luisa Coutinho; Ramos, Lina; Silva, Eduardo;
PUBLISHED: 2025, SOURCE: CLINICAL GENETICS
2
TITLE: Unraveling the genetic spectrum of inherited deaf-blindness in Portugal Full Text
AUTHORS: Machado, Telma; Cortinhal, Telmo; Carvalho, Ana Luisa; Teixeira Marques, Francisco; Silva, Rufino; Murta, Joaquim; Marques, Joao Pedro;
PUBLISHED: 2025, SOURCE: ORPHANET JOURNAL OF RARE DISEASES, VOLUME: 20, ISSUE: 1
AUTHORS: Machado, Telma; Cortinhal, Telmo; Carvalho, Ana Luisa; Teixeira Marques, Francisco; Silva, Rufino; Murta, Joaquim; Marques, Joao Pedro;
PUBLISHED: 2025, SOURCE: ORPHANET JOURNAL OF RARE DISEASES, VOLUME: 20, ISSUE: 1
3
TITLE: Self-harm and suicidality in child and adolescent psychiatric emergencies; [Comportamentos auto-lesivos e ideação suicida nas urgências pedopsiquiátricas]
AUTHORS: Pedro Carvalho E Marques; Otília Queirós;
PUBLISHED: 2025, SOURCE: Portuguese Journal of Pediatrics, VOLUME: 56, ISSUE: 1
AUTHORS: Pedro Carvalho E Marques; Otília Queirós;
PUBLISHED: 2025, SOURCE: Portuguese Journal of Pediatrics, VOLUME: 56, ISSUE: 1
INDEXED IN: 
Scopus
Scopus4
TITLE: Structural and functional clinician-reported outcomes show strong correlations with patient-reported outcomes in Retinitis Pigmentosa
AUTHORS: Sofia Teixeira; Maria Franca; Nuno Gouveia; Bruno Teixeira; Rufino Silva; Joaquim Murta; João Pedro Marques;
PUBLISHED: 2025, SOURCE: AJO International, VOLUME: 2, ISSUE: 1
AUTHORS: Sofia Teixeira; Maria Franca; Nuno Gouveia; Bruno Teixeira; Rufino Silva; Joaquim Murta; João Pedro Marques;
PUBLISHED: 2025, SOURCE: AJO International, VOLUME: 2, ISSUE: 1
INDEXED IN: Scopus 
CrossRef
Scopus CrossRef5
TITLE: Clinical and genetic landscape of IRD in Portugal: pooled data from the nationwide IRD-PT registry
AUTHORS: Marta, Ana; Marques Couto, Pedro; Vaz Pereira, Sara; Costa, Jose; Cabral, Diogo; Estrela Silva, Sergio; Franca, Maria; Marques, Joao Heitor; Meneres, Maria Joao; Lemos, Carolina; Melo Beirao, Joao; Soares, Celia Azevedo; Carvalho, Ana Luisa; Marques, Joao Pedro;
PUBLISHED: 2025, SOURCE: NPJ GENOMIC MEDICINE, VOLUME: 10, ISSUE: 1
AUTHORS: Marta, Ana; Marques Couto, Pedro; Vaz Pereira, Sara; Costa, Jose; Cabral, Diogo; Estrela Silva, Sergio; Franca, Maria; Marques, Joao Heitor; Meneres, Maria Joao; Lemos, Carolina; Melo Beirao, Joao; Soares, Celia Azevedo; Carvalho, Ana Luisa; Marques, Joao Pedro;
PUBLISHED: 2025, SOURCE: NPJ GENOMIC MEDICINE, VOLUME: 10, ISSUE: 1
6
TITLE: Expanding the phenotypical spectrum of the c.1876C>T p.(Leu626Phe) variant in IMPG1-associated disease Full Text
AUTHORS: Nogueira, Carlos; Costa, Celso; Kostin, Vasil; Silva, Rufino; Murta, Joaquim; Carvalho, Ana Luisa; Marques, Joao Pedro;
PUBLISHED: 2025, SOURCE: ACTA OPHTHALMOLOGICA
AUTHORS: Nogueira, Carlos; Costa, Celso; Kostin, Vasil; Silva, Rufino; Murta, Joaquim; Carvalho, Ana Luisa; Marques, Joao Pedro;
PUBLISHED: 2025, SOURCE: ACTA OPHTHALMOLOGICA
7
TITLE: Genetic Testing of Patients with Inherited Retinal Diseases in the European Countries: An International Survey by the European Vision Institute
AUTHORS: Calzetti, Giacomo; Schwarzwalder, Kerstin; Ottonelli, Giorgia; Kaminska, Karolina; Strauss, Rupert Wolfgang; De Baere, Elfride; Leroy, Bart P.; Audo, Isabelle; Zeitz, Christina; Cursiefen, Claus; Stingl, Katarina; Boon, Camiel J. F.; Marques, Joao Pedro; Santos, Cristina; Ayuso Garcia, Carmen; Escher, Pascal; Cordeiro, M. Francesca; D'Esposito, Fabiana; Charbel Issa, Peter; Lotery, Andrew; ...More
PUBLISHED: 2024, SOURCE: OPHTHALMIC RESEARCH, VOLUME: 67, ISSUE: 1
AUTHORS: Calzetti, Giacomo; Schwarzwalder, Kerstin; Ottonelli, Giorgia; Kaminska, Karolina; Strauss, Rupert Wolfgang; De Baere, Elfride; Leroy, Bart P.; Audo, Isabelle; Zeitz, Christina; Cursiefen, Claus; Stingl, Katarina; Boon, Camiel J. F.; Marques, Joao Pedro; Santos, Cristina; Ayuso Garcia, Carmen; Escher, Pascal; Cordeiro, M. Francesca; D'Esposito, Fabiana; Charbel Issa, Peter; Lotery, Andrew; ...More
PUBLISHED: 2024, SOURCE: OPHTHALMIC RESEARCH, VOLUME: 67, ISSUE: 1
INDEXED IN: Scopus 
WOS
Scopus WOS8
TITLE: Expanding the genetic landscape of Usher syndrome type IV caused by pathogenic ARSG variants Full Text
AUTHORS: Bauwens, Miriam; De Man, Vincent; Audo, Isabelle; Balikova, Irina; Zein, Wadih M.; Smirnov, Vasily; Held, Sebastian; Vermeer, Sascha; Loos, Elke; Jacob, Julie; Casteels, Ingele; Desir, Julie; Depasse, Fanny; Van de Sompele, Stijn; Van Heetvelde, Mattias; De Bruyne, Marieke; Andrieu, Camille; Condroyer, Christel; Antonio, Aline; Hufnagel, Robert; ...More
PUBLISHED: 2024, SOURCE: CLINICAL GENETICS
AUTHORS: Bauwens, Miriam; De Man, Vincent; Audo, Isabelle; Balikova, Irina; Zein, Wadih M.; Smirnov, Vasily; Held, Sebastian; Vermeer, Sascha; Loos, Elke; Jacob, Julie; Casteels, Ingele; Desir, Julie; Depasse, Fanny; Van de Sompele, Stijn; Van Heetvelde, Mattias; De Bruyne, Marieke; Andrieu, Camille; Condroyer, Christel; Antonio, Aline; Hufnagel, Robert; ...More
PUBLISHED: 2024, SOURCE: CLINICAL GENETICS
INDEXED IN: Scopus WOS
Scopus WOS9
TITLE: Current management of inherited retinal degenerations in Portugal (IRD-PT survey) Full Text
AUTHORS: Marques, Joao Pedro; Ferreira, Nuno; Moreno, Natacha; Marta, Ana; Vaz Pereira, Sara; Estrela Silva, Sergio; Costa, Jose; Cardoso, Ana Rocha; Neves, Pedro; Duarte, Lilianne; Meira, Dalia; Pires, Joana; Menezes, Carlos; Rodrigues, Filipa; Arede, Pedro; Coutinho, Andre; Cabral, Diogo; Coutinho, Ines; Ribeiro, Miguel; Macedo, Marta; ...More
PUBLISHED: 2024, SOURCE: SCIENTIFIC REPORTS, VOLUME: 14, ISSUE: 1
AUTHORS: Marques, Joao Pedro; Ferreira, Nuno; Moreno, Natacha; Marta, Ana; Vaz Pereira, Sara; Estrela Silva, Sergio; Costa, Jose; Cardoso, Ana Rocha; Neves, Pedro; Duarte, Lilianne; Meira, Dalia; Pires, Joana; Menezes, Carlos; Rodrigues, Filipa; Arede, Pedro; Coutinho, Andre; Cabral, Diogo; Coutinho, Ines; Ribeiro, Miguel; Macedo, Marta; ...More
PUBLISHED: 2024, SOURCE: SCIENTIFIC REPORTS, VOLUME: 14, ISSUE: 1
INDEXED IN: Scopus WOS
Scopus WOS10
TITLE: Expanding the mutational and phenotypical spectrum of FHONDA syndrome
AUTHORS: Teixeira, Bruno Magalhaes; Figueiredo, Ines; Raimundo, Miguel; Quental, Hugo; Carvalho, Ana Luisa; Silva, Rufino; Murta, Joaquim; Marques, Joao Pedro;
PUBLISHED: 2024, SOURCE: EUROPEAN JOURNAL OF OPHTHALMOLOGY
AUTHORS: Teixeira, Bruno Magalhaes; Figueiredo, Ines; Raimundo, Miguel; Quental, Hugo; Carvalho, Ana Luisa; Silva, Rufino; Murta, Joaquim; Marques, Joao Pedro;
PUBLISHED: 2024, SOURCE: EUROPEAN JOURNAL OF OPHTHALMOLOGY
