ProfileOfResearchers

TITLE: Biallelic GINS2 variant p.(Arg114Leu) causes Meier-Gorlin syndrome with craniosynostosis
AUTHORS: Sa, MJN ; Miller, KA; McQuaid, M; Koelling, N; Wilkie, AOM; Wurtele, H; De Brouwer, APM; Oliveira, J;
PUBLISHED: 2021, SOURCE: JOURNAL OF MEDICAL GENETICS

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WOS

TITLE: Intellectual disability genomics: current state, pitfalls and future challenges Full Text
AUTHORS: Maia, N; Sa, MJN ; Melo Pires, M; de Brouwer, APM; Jorge, P;
PUBLISHED: 2021, SOURCE: BMC GENOMICS, VOLUME: 22, ISSUE: 1

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TITLE: Genomic imbalances defining novel intellectual disability associated loci Full Text
AUTHORS: Fatima Lopes; Fatima Torres; Gabriela Soares; Mafalda Barbosa; Joao Silva; Frederico Duque; Miguel Rocha; Joaquim Sa; Guiomar Oliveira; Maria Joao Sa ; Teresa Temudo; Susana Sousa; Carla Marques; Sofia Lopes; Catarina Gomes; Gisela Barros; Arminda Jorge; Felisbela Rocha; Cecilia Martins; Sandra Mesquita; Susana Loureiro; Elisa Maria Cardoso; Maria Jose Calix; Andreia Dias; Cristina Martins; Ceu R Mota; Diana Antunes; Juliette Dupont; Sara Figueiredo; Sonia Figueiroa; Susana Gama de Sousa; Sara Cruz; Adriana Sampaio; Paul Eijk; Marjan M Weiss; Bauke Ylstra; Paula Rendeiro; Purificacao Tavares; Margarida Reis Lima; Jorge Pinto Basto; Ana Maria Fortuna; Patricia Maciel; ...More
PUBLISHED: 2019, SOURCE: ORPHANET JOURNAL OF RARE DISEASES, VOLUME: 14, ISSUE: 1

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Scopus

WOS

TITLE: Two Novel Pathogenic MID1 Variants and Genotype-Phenotype Correlation Reanalysis in X-Linked Opitz G/BBB Syndrome
AUTHORS: Maia, N; Sa, MJN ; Tkachenko, N; Soares, G; Marques, I; Rodrigues, B; Fortuna, AM; Santos, R; de Brouwer, APM; Jorge, P;
PUBLISHED: 2018, SOURCE: MOLECULAR SYNDROMOLOGY, VOLUME: 9, ISSUE: 1

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Scopus

WOS

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