Residual risk for additional recessive diseases in consanguineous couples von AlAbdi, Lama, Alrashseed, Shatha, Alsulaiman, Ahood, Helaby, Rana, Imtiaz, Faiqa, Alhamed, Mohamed, Alkuraya, Fowzan S.

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Cone dystrophy associated with autoimmune polyglandular syndrome type 1 von Badawi, Abdulrahman, Magliyah, Moustafa, Alabbasi, Omar, AlAbdi, Lama, Alkuraya, Fowzan S., Schatz, Patrik, ALBalawi, Hani Basher, Mura, Marco

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Diagnostic implications of pitfalls in causal variant identification based on 4577 molecularly characterized families von AlAbdi, Lama, Maddirevula, Sateesh, Shamseldin, Hanan E., Khouj, Ebtissal, Helaby, Rana, Hamid, Halima, Almulhim, Aisha, Hashem, Mais O., Abdulwahab, Firdous, Abouyousef, Omar, Alqahtani, Mashael, Altuwaijri, Norah, Jaafar, Amal, Alshidi, Tarfa, Alzahrani, Fatema, Alkuraya, Fowzan S.

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Clinical utility of polygenic scores for cardiometabolic disease in Arabs von Shim, Injeong, Kuwahara, Hiroyuki, Chen, NingNing, Hashem, Mais O., AlAbdi, Lama, Abouelhoda, Mohamed, Won, Hong-Hee, Natarajan, Pradeep, Ellinor, Patrick T., Khera, Amit V., Gao, Xin, Alkuraya, Fowzan S., Fahed, Akl C.

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Brain monoamine vesicular transport disease caused by homozygous SLC18A2 variants: A study in 42 affected individuals von Saida, Ken, Maroofian, Reza, Sengoku, Toru, Mitani, Tadahiro, Pagnamenta, Alistair T., Marafi, Dana, Zaki, Maha S., O’Brien, Thomas J., Karimiani, Ehsan Ghayoor, Kaiyrzhanov, Rauan, Takizawa, Marina, Ohori, Sachiko, Leong, Huey Yin, Akay, Gulsen, Galehdari, Hamid, Zamani, Mina, Romy, Ratna, Carroll, Christopher J., Toosi, Mehran Beiraghi, Ashrafzadeh, Farah, Imannezhad, Shima, Malek, Hadis, Ahangari, Najmeh, Tomoum, Hoda, Gowda, Vykuntaraju K., Srinivasan, Varunvenkat M., Murphy, David, Dominik, Natalia, Elbendary, Hasnaa M., Rafat, Karima, Yilmaz, Sanem, Kanmaz, Seda, Serin, Mine, Krishnakumar, Deepa, Gardham, Alice, Maw, Anna, Rao, Tekki Sreenivasa, Alsubhi, Sarah, Srour, Myriam, Buhas, Daniela, Jewett, Tamison, Goldberg, Rachel E., Shamseldin, Hanan, Frengen, Eirik, Misceo, Doriana, Strømme, Petter, Magliocco Ceroni, José Ricardo, Kim, Chong Ae, Yesil, Gozde, Sengenc, Esma, Guler, Serhat, Hull, Mariam, Parnes, Mered, Aktas, Dilek, Anlar, Banu, Bayram, Yavuz, Pehlivan, Davut, Posey, Jennifer E., Alavi, Shahryar, Madani Manshadi, Seyed Ali, Alzaidan, Hamad, Al-Owain, Mohammad, Alabdi, Lama, Abdulwahab, Ferdous, Sekiguchi, Futoshi, Hamanaka, Kohei, Fujita, Atsushi, Uchiyama, Yuri, Mizuguchi, Takeshi, Miyatake, Satoko, Miyake, Noriko, Elshafie, Reem M., Salayev, Kamran, Guliyeva, Ulviyya, Alkuraya, Fowzan S., Gleeson, Joseph G., Monaghan, Kristin G., Langley, Katherine G., Yang, Hui, Motavaf, Mahsa, Safari, Saeid, Alipour, Mozhgan, Ogata, Kazuhiro, Brown, André E.X., Lupski, James R., Houlden, Henry, Matsumoto, Naomichi

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Whole-exome sequencing identifies cancer-associated variants of the endo-lysosomal ion transport channels in the Saudi population von Binobaid, Lama, As Sobeai, Homood M., Alhazzani, Khalid, AlAbdi, Lama, Alwazae, Meshari M., Alotaibi, Moureq, Parrington, John, Alhoshani, Ali

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Oct4-Mediated Inhibition of Lsd1 Activity Promotes the Active and Primed State of Pluripotency Enhancers von AlAbdi, Lama, Saha, Debapriya, He, Ming, Dar, Mohd Saleem, Utturkar, Sagar M., Sudyanti, Putu Ayu, McCune, Stephen, Spears, Brice H., Breedlove, James A., Lanman, Nadia A., Gowher, Humaira

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Beyond the exome: utility of long-read whole genome sequencing in exome-negative autosomal recessive diseases von AlAbdi, Lama, Shamseldin, Hanan E, Khouj, Ebtissal, Helaby, Rana, Aljamal, Bayan, Alqahtani, Mashael, Almulhim, Aisha, Hamid, Halima, Hashem, Mais O, Abdulwahab, Firdous, Abouyousef, Omar, Jaafar, Amal, Alshidi, Tarfa, Al-Owain, Mohammed, Alhashem, Amal, Al Tala, Saeed, Khan, Arif O, Mardawi, Elham, Alkuraya, Hisham, Faqeih, Eissa, Afqi, Manal, Alkhalifi, Salwa, Rahbeeni, Zuhair, Hagos, Samya T, Al-Ahmadi, Wijdan, Nadeef, Seba, Maddirevula, Sateesh, Khabar, Khalid S A, Putra, Alexander, Angelov, Angel, Park, Changsook, Reyes-Ramos, Ana M, Umer, Husen, Ullah, Ikram, Driguez, Patrick, Fukasawa, Yoshinori, Cheung, Ming Sin, Gallouzi, Imed Eddine, Alkuraya, Fowzan S

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Lethal variants in humans: lessons learned from a large molecular autopsy cohort von Shamseldin, Hanan E., AlAbdi, Lama, Maddirevula, Sateesh, Alsaif, Hessa S., Alzahrani, Fatema, Ewida, Nour, Hashem, Mais, Abdulwahab, Firdous, Abuyousef, Omar, Kuwahara, Hiroyuki, Gao, Xin, Alkuraya, Fowzan S.

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P102: KIF26A is mutated in the syndrome of congenital hydrocephalus with megacolon von Almannai, Mohammed, AlAbdi, Lama, Maddirevula, Sateesh, Alotaibi, Maha, AlSaleem, Bader, Aljadhai, Yaser, Alsaif, Hessa, Khalid, Mussad Abu, Alkuraya, Fowzan

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Exploiting the Autozygome to Support Previously Published Mendelian Gene-Disease Associations: An Update von Maddirevula, Sateesh, Shamseldin, Hanan E., Sirr, Amy, AlAbdi, Lama, Lo, Russell S., Ewida, Nour, Al-Qahtani, Mashael, Hashem, Mais, Abdulwahab, Firdous, Aboyousef, Omar, Kaya, Namik, Monies, Dorota, Salem, May H., Al Harbi, Naffaa, Aldhalaan, Hesham M., Alzaidan, Hamad, Almanea, Hadeel M., Alsalamah, Abrar K., Al Mutairi, Fuad, Ismail, Samira, Abdel-Salam, Ghada M. H., Alhashem, Amal, Asery, Ali, Faqeih, Eissa, AlQassmi, Amal, Al-Hamoudi, Waleed, Algoufi, Talal, Shagrani, Mohammad, Dudley, Aimee M., Alkuraya, Fowzan S.

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Genetic testing results of children suspected to have Stickler syndrome type collagenopathy after ocular examination von Khan, Arif O., AlAbdi, Lama, Patel, Nisha, Helaby, Rana, Hashem, Mais, Abdulwahab, Firdous, AlBadr, Fahad B., Alkuraya, Fowzan S.

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The transcription factor Vezf1 represses the expression of the antiangiogenic factor Cited2 in endothelial cells von AlAbdi, Lama, He, Ming, Yang, Qianyi, Norvil, Allison B., Gowher, Humaira

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An epigenetic switch regulates de novo DNA methylation at a subset of pluripotency gene enhancers during embryonic stem cell differentiation von Petell, Christopher J, Alabdi, Lama, He, Ming, San Miguel, Phillip, Rose, Richard, Gowher, Humaira

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PMEL is mutated in oculocutaneous albinism von AlAbdi, Lama, Alshammari, Muneera, Helaby, Rana, Khan, Arif O., Alkuraya, Fowzan S.

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Human ABL1 deficiency syndrome (HADS) is a recognizable syndrome distinct from ABL1-related congenital heart defects and skeletal malformations syndrome von AlAbdi, Lama, Neuhann, Teresa, Prott, Eva-Christina, Schön, Ulrike, Abdulwahab, Firdous, Faqeih, Eissa, Alkuraya, Fowzan S.

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Dnmt3b Methylates DNA by a Noncooperative Mechanism, and Its Activity Is Unaffected by Manipulations at the Predicted Dimer Interface von Norvil, Allison B, Petell, Christopher J, Alabdi, Lama, Wu, Lanchen, Rossie, Sandra, Gowher, Humaira

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The acute myeloid leukemia variant DNMT3A Arg882His is a DNMT3B-like enzyme von Norvil, Allison B, AlAbdi, Lama, Liu, Bigang, Tu, Yu Han, Forstoffer, Nicole E, Michie, Amie R, Chen, Taiping, Gowher, Humaira

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KIF26A is mutated in the syndrome of congenital hydrocephalus with megacolon von Almannai, Mohammed, AlAbdi, Lama, Maddirevula, Sateesh, Alotaibi, Maha, Alsaleem, Badr M., Aljadhai, Yaser I., Alsaif, Hessa S., Abukhalid, Musaad, Alkuraya, Fowzan S

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Abstract 15842: Interplay of Genomic and Conventional Risk for Cardiometabolic Disease in Saudi Arabia von Shim, Injeong, Kuwahara, Hiroyuki, Chen, NingNing, Hashem, Mais, AlAbdi, Lama, Gao, Xin, AbouElHoda, Mohamed, Won, Hong-Hee, Natarajan, Pradeep, Ellinor, Patrick T, Khera, Amit V, Alkuraya, Fowzan S, FAHED, AKL C

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