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Naif A M Almontashiri

ORCID

Publication Activity (10 Years)

Years Active: 2020-2023
Publications (10 Years): 13

Top Venues

Clinical chemistry

Nature communications

Journal of human genetics

Clinical genetics

Taibah University Faculty of Medicine

University of Ottawa Heart Institute (PHD)

This page only lists publications with an associated author ORCID identifier.

Affiliation History

Taibah University Faculty of Medicine Jun 1o 2019

Saudi Arabia

Director :: The Center for Genetics and Inherited Diseases

Education History

University of Ottawa Heart Institute May 1o 2012 - May 22o 2015

Canada

PHD :: The John and Jennifer Ruddy Canadian Cardiovascular Genetics Centre

Publications

Naif A M Almontashiri
Commentary on A Patient with Coarse Facial Features and Molecular Odyssey: Lessons Learned and Best Practice. Clinical chemistry 69 (1) (2023)
Mohammad Awwad Alqahtani, Saleh M Al-Qahtani, Yahya H Al-Falki, Essa Alharby, Obaid Mohammed Albulym, Naif A M Almontashiri
Biallelic loss of function variant in ZNF808 is associated with non-syndromic neonatal diabetes. Clinical genetics (2023)
Naif A M Almontashiri
Commentary on A Patient with Coarse Facial Features and Molecular Odyssey: Lessons Learned and Best Practice. Clinical chemistry 69 (1) (2023)
Norah Alsaleh, Amal M Alhashem, Brahim Tabarki, Sarar Mohamed, Essa Alharby, Fowzan Sami Alkuraya, Naif A M Almontashiri
A Biallelic Variant in FRA10AC1 Is Associated With Neurodevelopmental Disorder and Growth Retardation. Neurology. Genetics 8 (4) (2022)
Naif A M Almontashiri
Commentary on Multiple Copy Number Variants Detected by Noninvasive Prenatal Screening. Clinical chemistry 68 (5) (2022)
Monis Bilal Shamsi, Mohamed Saleh, Makki Almuntashri, Essa Alharby, Manar Samman, Roy W A Peake, Fatima M Al-Fadhli, Ali Alasmari, Eissa A Faqeih, Naif A M Almontashiri
Clinical characterization and further confirmation of the autosomal recessive SLC12A2 disease. Journal of human genetics 66 (7) (2021)
Eric Olinger, Intisar Al Alawi, Mohammed S Al Riyami, Isa Al Salmi, Elisa Molinari, Eissa Ali Faqeih, Mohamed H Al-Hamed, Miguel Barroso-Gil, Laura Powell, Abdulrahman A Al-Hussaini, Khawla A Rahim, Naif A M Almontashiri, Colin Miles, Shirlee Shril, Friedhelm Hildebrandt, Genomics England Research Consortium, Ian J Wilson, John Andrew Sayer
A discarded synonymous variant in NPHP3 explains nephronophthisis and congenital hepatic fibrosis in several families. Human mutation 42 (10) (2021)
Fatima M Al-Fadhli, Manal Afqi, Mona Hamza Sairafi, Makki Almuntashri, Essa Alharby, Ghadeer Alharbi, Firoz Abdud Samad, Jamil Amjad Hashmi, Dimah Zaytuni, Ahmed A Bahashwan, Jin Huk Choi, Roy W A Peake, Bruce Beutler, Naif A M Almontashiri
Biallelic loss of function variant in the unfolded protein response gene PDIA6 is associated with asphyxiating thoracic dystrophy and neonatal-onset diabetes. Clinical genetics 99 (5) (2021)
Essa Alharby, Eissa A Faqeih, Mohammed Saleh, Seham Alameer, Makki Almuntashri, Annalisa Pastore, Manar A Samman, Abdullah M Alnawfal, Mais Hashem, Dimah Zaytuni, Ghadeer Alharbi, Mohammed Almannai, Ali Alasmari, Adel A Mahmoud, Ali H Alwadei, Lamya Jad, Ali AlOtaibi, Fahad Al-Hakami, Wafaa Eyaid, Fowzan S Alkuraya, Majid Alfadhel, Roy W A Peake, Naif A M Almontashiri
Clinical, molecular, and biochemical delineation of asparagine synthetase deficiency in Saudi cohort. Genetics in medicine : official journal of the American College of Medical Genetics 22 (12) (2020)
Hamoud Alhebbi, Abdul Ali Peer-Zada, Abdulrahman A Al-Hussaini, Sara Algubaisi, Awad Albassami, Nasser AlMasri, Yasir Alrusayni, Ibrahim M Alruzug, Essa Alharby, Manar A Samman, Syed Zubair Ayoub, Sateesh Maddirevula, Roy W A Peake, Fowzan Sami Alkuraya, Sami Wali, Naif A M Almontashiri
New paradigms of USP53 disease: normal GGT cholestasis, BRIC, cholangiopathy, and responsiveness to rifampicin. Journal of human genetics 66 (2) (2020)
Anwar M Hashem, Abdullah Algaissi, Sarah A Almahboub, Mohamed A Alfaleh, Turki S Abujamel, Sawsan S Alamri, Khalid A Alluhaybi, Haya I Hobani, Rahaf H Alharbi, Reem M Alsulaiman, M-Zaki ElAssouli, Sharif Hala, Naif Khalaf Alharbi, Rowa Y Alhabbab, Ahdab A AlSaieedi, Wesam H Abdulaal, Abdullah Bukhari, Afrah A Al-Somali, Fadwa S Alofi, Asim Abdulaziz Omar Khogeer, Arnab Pain, Almohanad A Alkayyal, Naif A M Almontashiri, Bakur Mahmoud Ahmad, Xuguang Li
Early Humoral Response Correlates with Disease Severity and Outcomes in COVID-19 Patients. Viruses 12 (12) (2020)
Paige B Martin, Yu Kigoshi-Tansho, Roger B Sher, Gianina Ravenscroft, Jennifer E Stauffer, Rajesh Kumar, Ryo Yonashiro, Tina Müller, Christopher Griffith, William Allen, Davut Pehlivan, Tamar Harel, Martin Zenker, Denise Howting, Denny Schanze, Eissa A Faqeih, Naif A M Almontashiri, Reza Maroofian, Henry Houlden, Neda Mazaheri, Hamid Galehdari, F Nienke Boonstra, Jennifer E Posey, Monique M Ryan, James R Lupski, Nigel G Laing, Claudio A P Joazeiro, Gregory A Cox
NEMF mutations that impair ribosome-associated quality control are associated with neuromuscular disease. Nature communications 11 (1) (2020)
Paige B Martin, Yu Kigoshi-Tansho, Roger B Sher, Gianina Ravenscroft, Jennifer E Stauffer, Rajesh Kumar, Ryo Yonashiro, Tina Müller, Christopher Griffith, William Allen, Davut Pehlivan, Tamar Harel, Martin Zenker, Denise Howting, Denny Schanze, Eissa A Faqeih, Naif A M Almontashiri, Reza Maroofian, Henry Houlden, Neda Mazaheri, Hamid Galehdari, F Nienke Boonstra, Jennifer E Posey, Monique M Ryan, James R Lupski, Nigel G Laing, Claudio A P Joazeiro, Gregory A Cox
Author Correction: NEMF mutations that impair ribosome-associated quality control are associated with neuromuscular disease. Nature communications 11 (1) (2020)

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Publication Activity (10 Years)

Top Topics

Top Venues

Naif A M Almontashiri