Sandrina Da Costa Correia

Artiklar

Article: JCI INSIGHT. 2024;9(20):e178645
Quantitative proteomics of patient fibroblasts reveal biomarkers and diagnostic signatures of mitochondrial disease
Correia SP; Moedas MF; Taylor LS; Naess K; Lim AZ; McFarland R; Kazior Z; Rumyantseva A; Wibom R; Engvall M; Bruhn H; Lesko N; Vegvari A; Kall L; Trost M; Alston CL; Freyer C; Taylor RW; Wedell A; Wredenberg A
Article: AMERICAN JOURNAL OF HUMAN GENETICS. 2022;109(8):1421-1435
Bi-allelic loss-of-function variants in PPFIBP1 cause a neurodevelopmental disorder with microcephaly, epilepsy, and periventricular calcifications
Rosenhahn E; O'Brien TJ; Zaki MS; Sorge I; Wieczorek D; Rostasy K; Vitobello A; Nambot S; Alkuraya FS; Hashem MO; Alhashem A; Tabarki B; Alamri AS; Al Safar AH; Bubshait DK; Alahmady NF; Gleeson JG; Abdel-Hamid MS; Lesko N; Ygberg S; Correia SP; Wredenberg A; Alavi S; Seyedhassani SM; Nasab ME; Hussien H; Omar TEI; Harzallah I; Touraine R; Tajsharghi H; Morsy H; Houlden H; Shahrooei M; Ghavideldarestani M; Abdel-Salam GMH; Torella A; Zanobio M; Terrone G; Brunetti-Pierri N; Omrani A; Hentschel J; Lemke JR; Sticht H; Abou Jamra R; Brown AEX; Maroofian R; Platzer K
Article: HUMAN MUTATION. 2021;42(4):378-384
Severe congenital lactic acidosis and hypertrophic cardiomyopathy caused by an intronic variant in NDUFB7
Correia SP; Moedas MF; Naess K; Bruhn H; Maffezzini C; Calvo-Garrido J; Lesko N; Wibom R; Schober FA; Jemt A; Stranneheim H; Freyer C; Wedell A; Wredenberg A

Preprint: MEDRXIV. 2024;MEDRXIV
Pathogenic variants in TMEM184B cause a neurodevelopmental syndrome via alteration of metabolic signaling.
Chapman KA; Ullah F; Yahiku ZA; Kodiparthi SV; Kellaris G; Correia SP; Stödberg T; Sofokleous C; Marinakis NM; Fryssira H; Tsoutsou E; Traeger-Synodinos J; Accogli A; Salpietro V; Striano P; Berger SI; Pond KW; Sirimulla S; Davis EE; Bhattacharya MR