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- Clinicogenetic characterisation of SLC29A3-related syndromes: a case series, tracing ancestral variants and molecular dynamics simulationSajjad Biglari, Mohammad Shahrooei, Fatemeh Vahidnezhad, Leila Youssefian, Vahid Ziaee, Nima Rezaei, Atefeh Sohanforooshan Moghaddam, Sahar Sedighzadeh, Hossein Moravej, Parisa Safari Foroushani, Majid Keivanfar, Homa Ilkhanipoor, Amir Hozhabrpour, Hooria Seyedhosseini‑Ghaheh, Iraj Mohammadzadeh, Majid Naderi, Elham Sheikhi Ghayur, Nader Mansour Samaei, Saeed Dorgaleleh, Emran Esmaeilzadeh, Roya Sherkat, Hamid Reza Khorram Khorshid, Mohammad Amin Tabatabaiefar, Hakon Hakonarson, Hassan VahidnezhadJournal of Medical Genetics Mar 2025, jmg-2024-110606; DOI: 10.1136/jmg-2024-110606
- Homozygous variant in TKFC abolishing triokinase activities is associated with isolated immunodeficiencyCamille Tremblay-Laganière, Coralie Michaud, Raphaël Abourjaili-Bilodeau, Alicia Cabezas, José Canales, María Jesús Costas, João M Ribeiro, Jessica Leclerc-Blain, Fabien Touzot, Elie Haddad, Pierre Teira, Michel Duval, Alexandros Onoufriadis, Brigitte Meunier, José Carlos Cameselle, Philippe M CampeauJournal of Medical Genetics Sep 2024, 61 (9) 886-890; DOI: 10.1136/jmg-2024-109853
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