Whole-exome sequencing identifies cancer-associated variants of the endo-lysosomal ion transport channels in the Saudi population

Autor: Binobaid, Lama, As Sobeai, Homood M., Alhazzani, Khalid, AlAbdi, Lama, Alwazae, Meshari M., Alotaibi, Moureq, Parrington, John, Alhoshani, Ali

Publikováno v: In Saudi Pharmaceutical Journal March 2024 32(3)

Biallelic variation in the choline and ethanolamine transporter FLVCR1 underlies a severe developmental disorder spectrum

Autor: Calame, Daniel G., Wong, Jovi Huixin, Panda, Puravi, Nguyen, Dat Tuan, Leong, Nancy C.P., Sangermano, Riccardo, Patankar, Sohil G., Abdel-Hamid, Mohamed S., AlAbdi, Lama, Safwat, Sylvia, Flannery, Kyle P., Dardas, Zain, Fatih, Jawid M., Murali, Chaya, Kannan, Varun, Lotze, Timothy E., Herman, Isabella, Ammouri, Farah, Rezich, Brianna, Efthymiou, Stephanie, Alavi, Shahryar, Murphy, David, Firoozfar, Zahra, Nasab, Mahya Ebrahimi, Bahreini, Amir, Ghasemi, Majid, Haridy, Nourelhoda A., Goldouzi, Hamid Reza, Eghbal, Fatemeh, Karimiani, Ehsan Ghayoor, Begtrup, Amber, Elloumi, Houda, Srinivasan, Varunvenkat M., Gowda, Vykuntaraju K., Du, Haowei, Jhangiani, Shalini N., Coban-Akdemir, Zeynep, Marafi, Dana, Rodan, Lance, Isikay, Sedat, Rosenfeld, Jill A., Ramanathan, Subhadra, Staton, Michael, Oberg, Kerby C., Clark, Robin D., Wenman, Catharina, Loughlin, Sam, Saad, Ramy, Ashraf, Tazeen, Male, Alison, Tadros, Shereen, Boostani, Reza, Abdel-Salam, Ghada M.H., Zaki, Maha, Mardi, Ali, Hashemi-Gorji, Farzad, Abdalla, Ebtesam, Manzini, M. Chiara, Pehlivan, Davut, Posey, Jennifer E., Gibbs, Richard A., Houlden, Henry, Alkuraya, Fowzan S., Bujakowska, Kinga, Maroofian, Reza, Lupski, James R., Nguyen, Long N.

Publikováno v: In Genetics in Medicine September 2024

Beyond the exome: utility of long-read whole genome sequencing in exome-negative autosomal recessive diseases.

Autor: AlAbdi, Lama^1,2 (AUTHOR), Shamseldin, Hanan E.² (AUTHOR), Khouj, Ebtissal² (AUTHOR), Helaby, Rana² (AUTHOR), Aljamal, Bayan² (AUTHOR), Alqahtani, Mashael² (AUTHOR), Almulhim, Aisha^1,2 (AUTHOR), Hamid, Halima^1,2 (AUTHOR), Hashem, Mais O.² (AUTHOR), Abdulwahab, Firdous² (AUTHOR), Abouyousef, Omar² (AUTHOR), Jaafar, Amal² (AUTHOR), Alshidi, Tarfa² (AUTHOR), Al-Owain, Mohammed^3,4 (AUTHOR), Alhashem, Amal^4,5 (AUTHOR), Al Tala, Saeed⁶ (AUTHOR), Khan, Arif O.^7,8 (AUTHOR), Mardawi, Elham⁹ (AUTHOR), Alkuraya, Hisham¹⁰ (AUTHOR), Faqeih, Eissa¹¹ (AUTHOR)

Publikováno v: Genome Medicine. 12/14/2023, Vol. 15 Issue 1, p1-16. 16p.

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Human ABL1 deficiency syndrome (HADS) is a recognizable syndrome distinct from ABL1-related congenital heart defects and skeletal malformations syndrome.

Autor: AlAbdi, Lama, Neuhann, Teresa, Prott, Eva-Christina, Schön, Ulrike, Abdulwahab, Firdous, Faqeih, Eissa, Alkuraya, Fowzan S.

Publikováno v: Human Genetics; Jun2024, Vol. 143 Issue 6, p739-745, 7p