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Plasma PCSK9 Levels Are Elevated with Acute Myocardial Infarction in Two Independent Retrospective Angiographic Studies
Almontashiri, Naif A. M., Vilmundarson, Ragnar O., Ghasemzadeh, Nima, Dandona, Sonny, Roberts, Robert, Quyyumi, Arshed A., Chen, Hsiao-Huei, Stewart, Alexandre F. R.
Published in PloS one (02.09.2014)
Published in PloS one (02.09.2014)
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Impact of the SARS-CoV-2 nucleocapsid 203K/204R mutations on the inflammatory immune response in COVID-19 severity
Shuaib, Muhammad, Adroub, Sabir, Mourier, Tobias, Mfarrej, Sara, Zhang, Huoming, Esau, Luke, Alsomali, Afrah, Alofi, Fadwa S, Ahmad, Adeel Nazir, Shamsan, Abbas, Khogeer, Asim, Hashem, Anwar M., Almontashiri, Naif A. M., Hala, Sharif, Pain, Arnab
Published in Genome Medicine (21.07.2023)
Published in Genome Medicine (21.07.2023)
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A copy number variant overlapping the 3ʹUTR of PLP1 causes spastic paraplegia
Alghamdi, Malak, Alharbi, Essa, Aljarallah, Salman, Alghamdi, Ghaida, Balahmar, Reham M., Jado, Nisserin, Hamed, Hebattalah, Jamjoom, Dima, Bashiri, Fahad A., Almontashiri, Naif A. M.
Published in Journal of human genetics (01.07.2025)
Published in Journal of human genetics (01.07.2025)
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Quick and Easy Assembly of a One-Step qRT-PCR Kit for COVID-19 Diagnostics Using In-House Enzymes
Takahashi, Masateru, Tehseen, Muhammad, Salunke, Rahul, Takahashi, Etsuko, Mfarrej, Sara, Sobhy, Mohamed A, Alhamlan, Fatimah S, Hala, Sharif, Ramos-Mandujano, Gerardo, Al-Qahtani, Ahmed A, Alofi, Fadwa S, Alsomali, Afrah, Hashem, Anwar M, Khogeer, Asim, Almontashiri, Naif A. M, Lee, Jae Man, Mon, Hiroaki, Sakashita, Kosuke, Li, Mo, Kusakabe, Takahiro, Pain, Arnab, Hamdan, Samir M
Published in ACS Omega (23.03.2021)
Published in ACS Omega (23.03.2021)
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Clinical Validation of Targeted and Untargeted Metabolomics Testing for Genetic Disorders: A 3 Year Comparative Study
Almontashiri, Naif A. M., Zha, Li, Young, Kim, Law, Terence, Kellogg, Mark D., Bodamer, Olaf A., Peake, Roy W. A.
Published in Scientific reports (10.06.2020)
Published in Scientific reports (10.06.2020)
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New paradigms of USP53 disease: normal GGT cholestasis, BRIC, cholangiopathy, and responsiveness to rifampicin
Alhebbi, Hamoud, Peer-Zada, Abdul Ali, Al‐Hussaini, Abdulrahman A., Algubaisi, Sara, Albassami, Awad, AlMasri, Nasser, Alrusayni, Yasir, Alruzug, Ibrahim M., Alharby, Essa, Samman, Manar A., Ayoub, Syed Zubair, Maddirevula, Sateesh, Peake, Roy W. A., Alkuraya, Fowzan S., Wali, Sami, Almontashiri, Naif A. M.
Published in Journal of human genetics (01.02.2021)
Published in Journal of human genetics (01.02.2021)
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Clinical characterization and further confirmation of the autosomal recessive SLC12A2 disease
Bilal Shamsi, Monis, Saleh, Mohamed, Almuntashri, Makki, Alharby, Essa, Samman, Manar, Peake, Roy W. A., Al-Fadhli, Fatima M., Alasmari, Ali, Faqeih, Eissa A., Almontashiri, Naif A. M.
Published in Journal of human genetics (01.07.2021)
Published in Journal of human genetics (01.07.2021)
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Author Correction: Clinical Validation of Targeted and Untargeted Metabolomics Testing for Genetic Disorders: A 3 Year Comparative Study
Almontashiri, Naif A. M., Zha, Li, Young, Kim, Law, Terence, Kellogg, Mark D., Bodamer, Olaf A., Peake, Roy W. A.
Published in Scientific reports (07.07.2020)
Published in Scientific reports (07.07.2020)
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Clinical, molecular, and biochemical delineation of asparagine synthetase deficiency in Saudi cohort
Alharby, Essa, Faqeih, Eissa A., Saleh, Mohammed, Alameer, Seham, Almuntashri, Makki, Pastore, Annalisa, Samman, Manar A., Alnawfal, Abdullah M., Hashem, Mais, Zaytuni, Dimah, Alharbi, Ghadeer, Almannai, Mohammed, Alasmari, Ali, Mahmoud, Adel A., Alwadei, Ali H., Jad, Lamya, AlOtaibi, Ali, Al-Hakami, Fahad, Eyaid, Wafaa, Alkuraya, Fowzan S., Alfadhel, Majid, Peake, Roy W. A., Almontashiri, Naif A. M.
Published in Genetics in medicine (01.12.2020)
Published in Genetics in medicine (01.12.2020)
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Metabolic Acidosis and Hypoglycemia in a Child with Leigh-Like Phenotype
Alayed, Alaa M, Faqeih, Eissa Ali, Aldehaimi, Abdulwahed, Peake, Roy W A, Almontashiri, and Naif A M
Published in Clinical chemistry (Baltimore, Md.) (01.05.2020)
Published in Clinical chemistry (Baltimore, Md.) (01.05.2020)
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Interferon-γ Activates Expression of p15 and p16 Regardless of 9p21.3 Coronary Artery Disease Risk Genotype
Almontashiri, Naif A.M., Fan, Meng, Cheng, Brian L.M., Chen, Hsiao-Huei, Roberts, Robert, Stewart, Alexandre F.R.
Published in Journal of the American College of Cardiology (15.01.2013)
Published in Journal of the American College of Cardiology (15.01.2013)
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The Leukodystrophy Spectrum in Saudi Arabia: Epidemiological, Clinical, Radiological, and Genetic Data
Alfadhel, Majid, Almuqbil, Mohammed, Al Mutairi, Fuad, Umair, Muhammad, Almannai, Mohammed, Alghamdi, Malak, Althiyab, Hamad, Albarakati, Rayyan, Bashiri, Fahad A., Alshuaibi, Walaa, Ba-Armah, Duaa, Saleh, Mohammed A., Al-Asmari, Ali, Faqeih, Eissa, Altuwaijri, Waleed, Al-Rumayyan, Ahmed, Balwi, Mohammed Ali, Ababneh, Faroug, Alswaid, Abdulrahman Faiz, Eyaid, Wafaa M., Almontashiri, Naif A. M., Alhashem, Amal, Hundallah, Khalid, Bertoli-Avella, Aida, Bauer, Peter, Beetz, Christian, Alrifai, Muhammad Talal, Alfares, Ahmed, Tabarki, Brahim
Published in Frontiers in pediatrics (13.05.2021)
Published in Frontiers in pediatrics (13.05.2021)
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A Robust, Safe, and Scalable Magnetic Nanoparticle Workflow for RNA Extraction of Pathogens from Clinical and Wastewater Samples
Ramos‐Mandujano, Gerardo, Salunke, Rahul, Mfarrej, Sara, Rachmadi, Andri Taruna, Hala, Sharif, Xu, Jinna, Alofi, Fadwa S., Khogeer, Asim, Hashem, Anwar M., Almontashiri, Naif A. M., Alsomali, Afrah, Shinde, Digambar B., Hamdan, Samir, Hong, Pei‐Ying, Pain, Arnab, Li, Mo
Published in Global challenges (01.04.2021)
Published in Global challenges (01.04.2021)
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Phenotypic delineation of the retinal arterial macroaneurysms with supravalvular pulmonic stenosis syndrome
Alkuraya, Hisham, Patel, Nisha, Ibrahim, Niema, Al Ghamdi, Bandar, Alsulaiman, Sulaiman M., Nowilaty, Sawsan R., Abboud, Emad, Alturki, Ramadan, Alkharashi, Abdullah, Eyaid, Wafaa, Almasseri, Zainab, Alzaidan, Hamad, Alotaibi, Mohammed D., Abu El‐Asrar, Ahmed M., Alamro, Bandar, Helaby, Rana, Elshaer, Amani, Almontashiri, Naif A.M., Al‐Hussaini, Abdulrahman A., Alkuraya, Fowzan S.
Published in Clinical genetics (01.03.2020)
Published in Clinical genetics (01.03.2020)
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Functional Genomics of the 9p21.3 Locus for Atherosclerosis: Clarity or Confusion?
Chen, Hsiao-Huei, Almontashiri, Naif A. M., Antoine, Darlène, Stewart, Alexandre F. R.
Published in Current cardiology reports (01.07.2014)
Published in Current cardiology reports (01.07.2014)
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iSCAN: An RT-LAMP-coupled CRISPR-Cas12 module for rapid, sensitive detection of SARS-CoV-2
Ali, Zahir, Aman, Rashid, Mahas, Ahmed, Rao, Gundra Sivakrishna, Tehseen, Muhammad, Marsic, Tin, Salunke, Rahul, Subudhi, Amit K., Hala, Sharif M., Hamdan, Samir M., Pain, Arnab, Alofi, Fadwa S., Alsomali, Afrah, Hashem, Anwar M., Khogeer, Asim, Almontashiri, Naif A.M., Abedalthagafi, Malak, Hassan, Norhan, Mahfouz, Magdy M.
Published in Virus research (15.10.2020)
Published in Virus research (15.10.2020)
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Performance of Commercially Available Rapid Serological Assays for the Detection of SARS-CoV-2 Antibodies
Hashem, Anwar M., Alhabbab, Rowa Y., Algaissi, Abdullah, Alfaleh, Mohamed A., Hala, Sharif, Abujamel, Turki S., ElAssouli, M-Zaki, AL-Somali, Afrah A., Alofi, Fadwa S., Khogeer, Asim A., Alkayyal, Almohanad A., Mahmoud, Ahmad Bakur, Almontashiri, Naif A. M., Pain, Arnab
Published in Pathogens (Basel) (19.12.2020)
Published in Pathogens (Basel) (19.12.2020)
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Biallelic Loss of Function Variant in SEC31A Is Associated With Lethal Neurodevelopmental Disorder, Dysmorphic Features, and Skeletal Defects
Almontashiri, Naif A. M., Mushiba, Aziza, Alruqi, Haya, Alharby, Essa, Hashmi, Jamil Amjad
Published in Clinical genetics (01.04.2025)
Published in Clinical genetics (01.04.2025)
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