Biallelic variants in COPB1 cause a novel, severe intellectual disability syndrome with cataracts and variable microcephaly von Macken, William L., Godwin, Annie, Wheway, Gabrielle, Stals, Karen, Nazlamova, Liliya, Ellard, Sian, Alfares, Ahmed, Aloraini, Taghrid, AlSubaie, Lamia, Alfadhel, Majid, Alajaji, Sulaiman, Wai, Htoo A., Self, Jay, Douglas, Andrew G. L., Kao, Alexander P., Guille, Matthew, Baralle, Diana

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Hypomorphic variants in AK2 reveal the contribution of mitochondrial function to B-cell activation von Chou, Janet, Alazami, Anas M., Jaber, Faris, Hoyos-Bachiloglu, Rodrigo, Jones, Jennifer, Weeks, Sabrina, Alosaimi, Mohammed F., Bainter, Wayne, Cangemi, Brittney, Badran, Yousef R., Mohammed, Reem, Alroqi, Fayhan, Almutairi, Abduarahman, Al-Onazi, Noufa, AlAjaji, Sulaiman, Al-Saud, Bander, Arnaout, Rand, Elkins, Megan, Devana, Sridevi, Imperial, Juliet, Li, Betty, Drexhage, Linnea, Abdel Rahman, Anas M., Jacob, Minnie, Haddad, Hadi, Hanna-Wakim, Rima, Dbaibo, Ghassan, Massaad, Michel J., Dasouki, Majed, Mikhael, Raymond, Baz, Zeina, Geha, Raif S., Al-Mousa, Hamoud

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Phosphorylase b kinase deficiency glycogenosis with cirrhosis of the liver von Kagalwalla, Amir F., Kagalwalla, Yasmeen A., Al Ajaji, Sulaiman, Gorka, Waldemer, Ali, M.Ashraf

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