ProfileOfResearchers

TITLE: Loss of FOCAD, operating via the SKI messenger RNA surveillance pathway, causes a pediatric syndrome with liver cirrhosis
AUTHORS: Traspas, Ricardo Moreno; Teoh, Tze Shin; Wong, Pui Mun; Maier, Michael; Chia, Crystal Y.; Lay, Kenneth; Ali, Nur Ain; Larson, Austin; Al Mutairi, Fuad; Al Sannaa, Nouriya Abbas; Faqeih, Eissa Ali; Alfadhel, Majid; Cheema, Huma Arshad; Dupont, Juliette; Bezieau, Stephane; Isidor, Bertrand; Low, Dorrain Yanwen; Wang, Yulan; Tan, Grace; San Lai, Poh; Piloquet, Hugues; Joubert, Madeleine; Kayserili, Hulya; Kripps, Kimberly A.; Nahas, Shareef A.; Wartchow, Eric P.; Warren, Mikako; Bhavani, Gandham SriLakshmi; Dasouki, Majed; Sandoval, Renata; Carvalho, Elisa; Ramos, Luiza; Porta, Gilda; Bin W; Lashkari, Harsha Prasada; AlSaleem, Badr; BaAbbad, Raeda M.; Abreu Ferrao, Anabela Natalia; Karageorgou, Vasiliki; Ordonez Herrera, Natalia; Khan, Suliman; Bauer, Peter; Cogne, Benjamin; Bertoli Avella, Aida M.; Vincent, Marie; Girisha, Katta Mohan; Reversade, Bruno; ...More
PUBLISHED: 2022, SOURCE: NATURE GENETICS, VOLUME: 54, ISSUE: 8

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TITLE: Pathogenic variants in glutamyl-tRNA(Gln) amidotransferase subunits cause a lethal mitochondrial cardiomyopathy disorder
AUTHORS: Marisa W Friederich; Sharita Timal; Christopher A Powell; Cristina Dallabona; Alina Kurolap; Sara Palacios Zambrano; Drago Bratkovic; Terry G J Derks; David Bick; Katelijne Bouman; Kathryn C Chatfield; Nadine Damouny Naoum; Megan K Dishop; Tzipora C Falik Zaccai; Fuad Fares; Ayalla Fedida; Ileana Ferrero; Renata C Gallagher; Rafael Garesse; Micol Gilberti; Cristina Gonzalez; Katherine Gowan; Clair Habib; Rebecca K Halligan; Limor Kalfon; Kaz Knight; Dirk Lefeber; Laura Mamblona; Hanna Mandel; Adi Mory; John Ottoson; Tamar Paperna; Ger J M Pruijn; Pedro F Rebelo Guiomar; Ann Saada; Bruno Sainz; Hayley Salvemini; Mirthe H Schoots; Jan A Smeitink; Maciej J Szukszto; Hendrik J ter Horst; Frans van den Brandt; Francjan J van Spronsen; Joris A Veltman; Eric Wartchow; Liesbeth T Wintjes; Yaniv Zohar; Miguel A Fernandez Moreno; Hagit N Baris; Claudia Donnini; Michal Minczuk; Richard J Rodenburg; Johan L K Van Hove; ...More
PUBLISHED: 2018, SOURCE: NATURE COMMUNICATIONS, VOLUME: 9, ISSUE: 1

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