Analysis of transcript-deleterious variants in Mendelian disorders: implications for RNA-based diagnostics
Maddirevula, Sateesh, Kuwahara, Hiroyuki, Ewida, Nour, Shamseldin, Hanan E., Patel, Nisha, Alzahrani, Fatema, AlSheddi, Tarfa, AlObeid, Eman, Alenazi, Mona, Alsaif, Hessa S., Alqahtani, Maha, AlAli, Maha, Al Ali, Hatoon, Helaby, Rana, Ibrahim, Niema, Abdulwahab, Firdous, Hashem, Mais, Hanna, Nadine, Monies, Dorota, Derar, Nada, Alsagheir, Afaf, Alhashem, Amal, Alsaleem, Badr, Alhebbi, Hamoud, Wali, Sami, Umarov, Ramzan, Gao, Xin, Alkuraya, Fowzan S.
Published in Genome Biology (17.06.2020)
Published in Genome Biology (17.06.2020)
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De novo truncating variants in WHSC1 recapitulate the Wolf–Hirschhorn (4p16.3 microdeletion) syndrome phenotype
Derar, Nada, Al-Hassnan, Zuhair N, Al-Owain, Mohammed, Monies, Dorota, Abouelhoda, Mohamed, Meyer, Brian F, Moghrabi, Nabil, Alkuraya, Fowzan S
Published in Genetics in medicine (01.01.2019)
Published in Genetics in medicine (01.01.2019)
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Prenatal exome sequencing and chromosomal microarray analysis in fetal structural anomalies in a highly consanguineous population reveals a propensity of ciliopathy genes causing multisystem phenotypes
Al-Hamed, Mohamed H., Kurdi, Wesam, Khan, Rubina, Tulbah, Maha, AlNemer, Maha, AlSahan, Nada, AlMugbel, Maisoon, Rafiullah, Rafiullah, Assoum, Mirna, Monies, Dorota, Shah, Zeeshan, Rahbeeni, Zuhair, Derar, Nada, Hakami, Fahad, Almutairi, Gawaher, AlOtaibi, Afaf, Ali, Wafaa, AlShammasi, Amal, AlMubarak, Wardah, AlDawoud, Samia, AlAmri, Saja, Saeed, Bashayer, Bukhari, Hanifa, Ali, Mohannad, Akili, Rana, Alquayt, Laila, Hagos, Samia, Elbardisy, Hadeel, Akilan, Asma, Almuhana, Nora, AlKhalifah, Abrar, Abouelhoda, Mohamed, Ramzan, Khushnooda, Sayer, John A., Imtiaz, Faiqa
Published in Human genetics (2022)
Published in Human genetics (2022)
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Abnormalities in pharyngeal arch‐derived structures in SATB2‐associated syndrome
Zarate, Yuri A., Bosanko, Katherine, Derar, Nada, Fish, Jennifer L.
Published in Clinical genetics (01.08.2024)
Published in Clinical genetics (01.08.2024)
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Journal Article
PRSS8, encoding prostasin, is mutated in patients with autosomal recessive ichthyosis
Shamseldin, Hanan E., Derar, Nada, Alzaidan, Hamad, AlHathal, Naif, Alfalah, Abdullah, Abdulwahab, Firdous, Alzaid, Tariq, Alkeraye, Salim, Alobaida, Saud A., Alkuraya, Fowzan S.
Published in Human genetics (01.04.2023)
Published in Human genetics (01.04.2023)
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Journal Article
Characterizing the morbid genome of ciliopathies
Shaheen, Ranad, Szymanska, Katarzyna, Basu, Basudha, Patel, Nisha, Ewida, Nour, Faqeih, Eissa, Al Hashem, Amal, Derar, Nada, Alsharif, Hadeel, Aldahmesh, Mohammed A, Alazami, Anas M, Hashem, Mais, Ibrahim, Niema, Abdulwahab, Firdous M, Sonbul, Rawda, Alkuraya, Hisham, Alnemer, Maha, Al Tala, Saeed, Al-Husain, Muneera, Morsy, Heba, Seidahmed, Mohammed Zain, Meriki, Neama, Al-Owain, Mohammed, AlShahwan, Saad, Tabarki, Brahim, Salih, Mustafa A, Faquih, Tariq, El-Kalioby, Mohamed, Ueffing, Marius, Boldt, Karsten, Logan, Clare V, Parry, David A, Al Tassan, Nada, Monies, Dorota, Megarbane, Andre, Abouelhoda, Mohamed, Halees, Anason, Johnson, Colin A, Alkuraya, Fowzan S
Published in Genome Biology (28.11.2016)
Published in Genome Biology (28.11.2016)
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Journal Article
Acyclovir-Induced Neurotoxicity: A Case Report and Review of Literature
Chowdhury, Mohammed Andaleeb, Derar, Nada, Hasan, Syed, Hinch, Bryan, Ratnam, Shoba, Assaly, Ragheb
Published in American journal of therapeutics (01.05.2016)
Published in American journal of therapeutics (01.05.2016)
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Journal Article
COVID-19 in Unvaccinated patients with inherited metabolic disorders: A single center experience
Altassan, Ruqaiah, Sulaiman, Raashda A., Alfalah, Abdullah, Alwagiat, Waad, Megdad, Eman, Alqasabi, Dana, Handoom, Bedour, Almesned, Munirah, Al-Amri, Hassan, Alhassnan, Zuhair, Alsayed, Moeen-aldeen, Alzaidan, Hamad, Rahbeeni, Zuhair, Derar, Nada, Al-Owain, Mohammed, Albanyan, Esam
Published in European journal of medical genetics (01.11.2022)
Published in European journal of medical genetics (01.11.2022)
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Journal Article
Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann-Steiner Syndrome
Sheppard, Sarah, Campbell, Ian, Harr, Margaret, Gold, Nina, Li, Dong, Bjornsson, Hans, Cohen, Julie, Fahrner, Jill, Fatemi, Ali, Harris, Jacqueline, Nowak, Catherine, Stevens, Cathy, Grand, Katheryn, Au, Margaret, Graham, John, Sanchez-Lara, Pedro, Del Campo, Miguel, Jones, Marilyn, Abdul-Rahman, Omar, Alkuraya, Fowzan, Bassetti, Jennifer, Bergstrom, Katherine, Bhoj, Elizabeth, Dugan, Sarah, Kaplan, Julie, Derar, Nada, Gripp, Karen W., Hauser, Natalie, Innes, Micheil, Keena, Beth, Kodra, Neslida, Miller, Rebecca, Nelson, Beverly, Nowaczyk, Malgorzata, Rahbeeni, Zuhair, Ben-Shachar, Shay, Shieh, Joseph, Slavotinek, Anne, Sobering, Andrew, Abbott, Mary-Alice, Allain, Dawn, Amlie-Wolf, Louise, Billie Au, Ping Yee, Bedoukian, Emma, Beek, Geoffrey, Barry, James, Berg, Janet, Bernstein, Jonathan, Cytrynbaum, Cheryl, Chung, Brian Hon-Yin, Donoghue, Sarah, Dorrani, Naghmeh, Eaton, Alison, Flores-Daboub, Josue, Dubbs, Holly, Felix, Carolyn, Fong, Chin-To, Fung, Jasmine Lee-Fong, Gangaram, Balram, Goldstein, Amy, Greenberg, Rotem, Ha, Thoa, Hersh, Joseph, Izumi, Kosuke, Kallish, Staci, Kravets, Elijah, Kwok, Pui-Yan, Jobling, Rebekah, Knight-Johnson, Amy, Kushner, Jessica, Lee, Bo Hoon, Levin, Brooke, Lindstrom, Kristin, Manickam, Kandamurugu, Mardach, Rebecca, McCormick, Elizabeth, McLeod, D. Ross, Mentch, Frank, Minks, Kelly, Muraresku, Colleen, Nelson, Stanley, Porazzi, Patrizia, Pichurin, Pavel, Powell-Hamilton, Nina, Powis, Zoe, Ritter, Alyssa, Rogers, Caleb, Rohena, Luis, Ronspies, Carey, Schroeder, Audrey, Stark, Zornitza, Starr, Lois, Stoler, Joan, Suwannarat, Pim, Velinov, Milen, Weksberg, Rosanna, Wilnai, Yael, Zadeh, Neda, Zand, Dina, Falk, Marni
Published in Molecular genetics and metabolism (01.04.2021)
Published in Molecular genetics and metabolism (01.04.2021)
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Journal Article
eP291 - Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann-Steiner Syndrome
Campbell, Ian, Harr, Margaret, Gold, Nina, Li, Dong, Bjornsson, Hans, Cohen, Julie, Fahrner, Jill, Fatemi, Ali, Harris, Jacqueline, Nowak, Catherine, Stevens, Cathy, Grand, Katheryn, Au, Margaret, Graham, John, Sanchez-Lara, Pedro, Del Campo, Miguel, Jones, Marilyn, Abdul-Rahman, Omar, Alkuraya, Fowzan, Bassetti, Jennifer, Bergstrom, Katherine, Bhoj, Elizabeth, Dugan, Sarah, Kaplan, Julie, Derar, Nada, Gripp, Karen W., Hauser, Natalie, Innes, Micheil, Keena, Beth, Kodra, Neslida, Miller, Rebecca, Nelson, Beverly, Nowaczyk, Malgorzata, Rahbeeni, Zuhair, Ben-Shachar, Shay, Shieh, Joseph, Slavotinek, Anne, Sobering, Andrew, Abbott, Mary-Alice, Allain, Dawn, Amlie-Wolf, Louise, Billie Au, Ping Yee, Bedoukian, Emma, Beek, Geoffrey, Barry, James, Berg, Janet, Bernstein, Jonathan, Cytrynbaum, Cheryl, Chung, Brian Hon-Yin, Donoghue, Sarah, Dorrani, Naghmeh, Eaton, Alison, Flores-Daboub, Josue, Dubbs, Holly, Felix, Carolyn, Fong, Chin-To, Fung, Jasmine Lee-Fong, Gangaram, Balram, Goldstein, Amy, Greenberg, Rotem, Ha, Thoa, Hersh, Joseph, Izumi, Kosuke, Kallish, Staci, Kwok, Pui-Yan, Jobling, Rebekah, Knight-Johnson, Amy, Kushner, Jessica, Lee, Bo Hoon, Levin, Brooke, Lindstrom, Kristin, Manickam, Kandamurugu, Mardach, Rebecca, McCormick, Elizabeth, McLeod, D. Ross, Mentch, Frank, Minks, Kelly, Muraresku, Colleen, Nelson, Stanley, Porazzi, Patrizia, Pichurin, Pavel, Powell-Hamilton, Nina, Powis, Zoe, Ritter, Alyssa, Rohena, Luis, Ronspies, Carey, Schroeder, Audrey, Stark, Zornitza, Starr, Lois, Stoler, Joan, Suwannarat, Pim, Velinov, Milen, Weksberg, Rosanna, Wilnai, Yael, Zadeh, Neda, Zand, Dina, Falk, Marni, Hakonarson, Hakon, Zackai, Elaine, Quintero-Rivera, Fabiola
Published in Molecular genetics and metabolism (01.04.2021)
Published in Molecular genetics and metabolism (01.04.2021)
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