Namik Kaya

ORCID

Publication Activity (10 Years)

Years Active: 2018-2023
Publications (10 Years): 28

Top Venues

Genes

Journal of clinical medicine

American journal of medical genetics. Part A

Molecular cytogenetics

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

Publications

Ruqaiah Altassan, Hanan AlQudairy, Sarah AlJebreen, Mohammed AlMuhaizea, Hindi Al-Hindi, Karla A Pena-Guerra, Hazem Ghebeh, Amer Almzroua, Albandary Albakheet, Mazhor AlDosary, Dilek Colak, Stefan T Arold, Namik Kaya
Expanding the phenotypic and genotypic spectrum of GGPS1 related congenital muscular dystrophy. American journal of medical genetics. Part A (2023)
Aljouhra AlHargan, Mohammed A AlMuhaizea, Rawan Almass, Ali H Alwadei, Maha Daghestani, Stefan T Arold, Namik Kaya
SHQ1-associated neurodevelopmental disorder: Report of the first homozygous variant in unrelated patients and review of the literature. Human genome variation 10 (1) (2023)
Aljouhra AlHargan, Mohammed A AlMuhaizea, Rawan Almass, Ali H Alwadei, Maha Daghestani, Stefan T Arold, Namik Kaya
SHQ1-associated neurodevelopmental disorder: Report of the first homozygous variant in unrelated patients and review of the literature. Human genome variation 10 (1) (2023)
Ruqaiah Altassan, Hanan AlQudairy, Sarah AlJebreen, Mohammed AlMuhaizea, Hindi Al-Hindi, Karla A Pena-Guerra, Hazem Ghebeh, Amer Almzroua, Albandary Albakheet, Mazhor AlDosary, Dilek Colak, Stefan T Arold, Namik Kaya
Expanding the phenotypic and genotypic spectrum of GGPS1 related congenital muscular dystrophy. American journal of medical genetics. Part A 194 (4) (2023)
Ruqaiah Altassan, Hanan AlQudairy, Sarah AlJebreen, Mohammed AlMuhaizea, Hindi Al-Hindi, Karla A Pena-Guerra, Hazem Ghebeh, Amer Almzroua, Albandary Albakheet, Mazhor AlDosary, Dilek Colak, Stefan T Arold, Namik Kaya
Expanding the phenotypic and genotypic spectrum of GGPS1 related congenital muscular dystrophy. American journal of medical genetics. Part A 194 (4) (2023)
Ruqaiah Altassan, Hanan AlQudairy, Sarah AlJebreen, Mohammed AlMuhaizea, Hindi Al-Hindi, Karla A Pena-Guerra, Hazem Ghebeh, Amer Almzroua, Albandary Albakheet, Mazhor AlDosary, Dilek Colak, Stefan T Arold, Namik Kaya
Expanding the phenotypic and genotypic spectrum of GGPS1 related congenital muscular dystrophy. American journal of medical genetics. Part A 194 (4) (2023)
Mustafa A Salih, Muddathir H Hamad, Marco Savarese, Ibrahim A Alorainy, Abdullah S Al-Jarallah, Hisham Alkhalidi, Hanan AlQudairy, Anoud Albader, Amal Jahz Alotaibi, Maysoon Alsagob, Albandary Al-Bakheet, Dilek Colak, Bjarne Udd, Namik Kaya
Exome Sequencing Reveals Novel TTN Variants in Saudi Patients with Congenital Titinopathies. Genetic testing and molecular biomarkers 25 (12) (2022)
Ruqaiah AlTassan, Hanan AlQudairy, Rakan Alromayan, Abdullah Alfalah, Omar A AlHarbi, Ana C González-Álvarez, Stefan T Arold, Namik Kaya
Clinical, Radiological, and Genetic Characterization of a Patient with a Novel Homoallelic Loss-of-Function Variant in DNM1 . Genes 13 (12) (2022)
Ruqaiah AlTassan, Hanan AlQudairy, Rakan Alromayan, Abdullah Alfalah, Omar A AlHarbi, Ana C González-Álvarez, Stefan T Arold, Namik Kaya
Clinical, Radiological, and Genetic Characterization of a Patient with a Novel Homoallelic Loss-of-Function Variant in DNM1 . Genes 13 (12) (2022)
Ruqaiah AlTassan, Hanan AlQudairy, Rakan Alromayan, Abdullah Alfalah, Omar A AlHarbi, Ana C González-Álvarez, Stefan T Arold, Namik Kaya
Clinical, Radiological, and Genetic Characterization of a Patient with a Novel Homoallelic Loss-of-Function Variant in DNM1 . Genes 13 (12) (2022)
Ruqaiah AlTassan, Hanan AlQudairy, Rakan Alromayan, Abdullah Alfalah, Omar A AlHarbi, Ana C González-Álvarez, Stefan T Arold, Namik Kaya
Clinical, Radiological, and Genetic Characterization of a Patient with a Novel Homoallelic Loss-of-Function Variant in DNM1 . Genes 13 (12) (2022)
Maha H Daghestani, Huda A Alqahtani, AlBandary AlBakheet, Mashael Al Deery, Khalid A Awartani, Mazin H Daghestani, Namik Kaya, Arjumand Warsy, Serdar Coskun, Dilek Colak
Global Transcriptional Profiling of Granulosa Cells from Polycystic Ovary Syndrome Patients: Comparative Analyses of Patients with or without History of Ovarian Hyperstimulation Syndrome Reveals Distinct Biomarkers and Pathways. Journal of clinical medicine 11 (23) (2022)
Maha H Daghestani, Huda A Alqahtani, AlBandary AlBakheet, Mashael Al Deery, Khalid A Awartani, Mazin H Daghestani, Namik Kaya, Arjumand Warsy, Serdar Coskun, Dilek Colak
Global Transcriptional Profiling of Granulosa Cells from Polycystic Ovary Syndrome Patients: Comparative Analyses of Patients with or without History of Ovarian Hyperstimulation Syndrome Reveals Distinct Biomarkers and Pathways. Journal of clinical medicine 11 (23) (2022)
Maha H Daghestani, Huda A Alqahtani, AlBandary AlBakheet, Mashael Al Deery, Khalid A Awartani, Mazin H Daghestani, Namik Kaya, Arjumand Warsy, Serdar Coskun, Dilek Colak
Global Transcriptional Profiling of Granulosa Cells from Polycystic Ovary Syndrome Patients: Comparative Analyses of Patients with or without History of Ovarian Hyperstimulation Syndrome Reveals Distinct Biomarkers and Pathways. Journal of clinical medicine 11 (23) (2022)
Maha H Daghestani, Huda A Alqahtani, AlBandary AlBakheet, Mashael Al Deery, Khalid A Awartani, Mazin H Daghestani, Namik Kaya, Arjumand Warsy, Serdar Coskun, Dilek Colak
Global Transcriptional Profiling of Granulosa Cells from Polycystic Ovary Syndrome Patients: Comparative Analyses of Patients with or without History of Ovarian Hyperstimulation Syndrome Reveals Distinct Biomarkers and Pathways. Journal of clinical medicine 11 (23) (2022)
Marcello Scala, Saskia B Wortmann, Namik Kaya, Menno D Stellingwerff, Angela Pistorio, Emma Glamuzina, Clara D van Karnebeek, Cristina Skrypnyk, Katarzyna Iwanicka-Pronicka, Dorota Piekutowska-Abramczuk, Elżbieta Ciara, Frederic Tort, Beth Sheidley, Annapurna Poduri, Parul Jayakar, Anuj Jayakar, Jariya Upadia, Nicolette Walano, Tobias B Haack, Holger Prokisch, Hesham Aldhalaan, Ehsan G Karimiani, Yilmaz Yildiz, Ahmet C Ceylan, Teresa Santiago-Sim, Amy Dameron, Hui Yang, Mehran B Toosi, Farah Ashrafzadeh, Javad Akhondian, Shima Imannezhad, Hanieh S Mirzadeh, Shazia Maqbool, Aisha Farid, Mohamed A Al-Muhaizea, Meznah O Alshwameen, Lama Aldowsari, Maysoon Alsagob, Ashwaq Alyousef, Rawan AlMass, Aljouhra AlHargan, Ali H Alwadei, Maha M AlRasheed, Dilek Colak, Hanan Alqudairy, Sameena Khan, Matthew A Lines, M Ángeles García Cazorla, Antonia Ribes, Eva Morava, Farah Bibi, Shahzad Haider, Matteo P Ferla, Jenny C Taylor, Hessa S Alsaif, Abdulwahab Firdous, Mais Hashem, Chingiz Shashkin, Kairgali Koneev, Rauan Kaiyrzhanov, Stephanie Efthymiou, Queen Square Genomics, Thomas Schmitt-Mechelke, Andreas Ziegler, Mahmoud Y Issa, Hasnaa M Elbendary, Pasquale Striano, Fowzan Sami Alkuraya, Maha S Zaki, Joseph G Gleeson, Tahsin Stefan Barakat, Jorgen Bierau, Marjo S van der Knaap, Reza Maroofian, Henry Houlden
Clinico-radiological features, molecular spectrum, and identification of prognostic factors in developmental and epileptic encephalopathy due to inosine triphosphate pyrophosphatase (ITPase) deficiency. Human mutation 43 (3) (2022)
Mazhor Aldosary, Maysoon Alsagob, Hanan AlQudairy, Ana C González-Álvarez, Stefan T Arold, Mohammad Anas Dababo, Omar A Alharbi, Rawan Almass, AlBandary AlBakheet, Dalia AlSarar, Alya Qari, Mysoon M Al-Ansari, Monika Oláhová, Saif A Al-Shahrani, Moeenaldeen AlSayed, Dilek Colak, Robert W Taylor, Mohammed AlOwain, Namik Kaya
A Novel Homozygous Founder Variant of RTN4IP1 in Two Consanguineous Saudi Families. Cells 11 (19) (2022)
Ruqaiah AlTassan, Hanan AlQudairy, Rakan Alromayan, Abdullah Alfalah, Omar A AlHarbi, Ana C González-Álvarez, Stefan T Arold, Namik Kaya
Clinical, Radiological, and Genetic Characterization of a Patient with a Novel Homoallelic Loss-of-Function Variant in DNM1 . Genes 13 (12) (2022)
Mohammed A Al-Muhaizea, Hanouf Aldeeb, Rawan Almass, Hadeel Jaber, Felwa Binhumaid, Laila Alquait, Musaad Abukhalid, Hesham Aldhalaan, Maysoon Alsagob, Albandary Al-Bakheet, Mazhor Aldosary, Hadeel Alkofide, Maha M Alrasheed, Dilek Colak, Namik Kaya
Genetics of ataxia telangiectasia in a highly consanguineous population. Annals of human genetics (2021)
Hesham AlDhalaan, Albandary AlBakheet, Sarah AlRuways, Nouf AlMutairi, Maha AlNakiyah, Reema AlGhofaili, Kelly J Cardona-Londoño, Khalid Omar Alahmadi, Hanan AlQudairy, Maha M Alrasheed, Dilek Colak, Stefan T Arold, Namik Kaya
A Novel GEMIN4 Variant in a Consanguineous Family Leads to Neurodevelopmental Impairment with Severe Microcephaly, Spastic Quadriplegia, Epilepsy, and Cataracts. Genes 13 (1) (2021)
Mohammed A Al-Muhaizea, Omar Dabbagh, Hanan AlQudairy, Aljouhra AlHargan, Wafa Alotaibi, Ruba Sami, Rahaf AlOtaibi, Mariam Mahmoud Ali, Hindi AlHindi, Dilek Colak, Namik Kaya
Phenotypic Variability of MEGF10 Variants Causing Congenital Myopathy: Report of Two Unrelated Patients from a Highly Consanguineous Population. Genes 12 (11) (2021)
Albandary Al-Bakheet, Mohamed Tohary, Sameena Khan, Aziza Chedrawi, Alaa Edrees, Ehab Tous, Hamoud Al-Mousa, Lefian Al-Otaibi, Saif AlShahrani, Maysoon Alsagob, Laila Al-Quait, Rawan Almass, Haya Al-Joudi, Dorota Monies, Abdulaziz Al-Semari, Mazhor Aldosary, Maha Daghestani, Dilek Colak, Namik Kaya, Mohammed Al-Owain
Hematological findings associated with tubulin-folding cofactors D-related encephalopathy: Expanding the phenotype. Clinical genetics 99 (5) (2021)
Mazhor Aldosary, Shahad Baselm, Maha Abdulrahim, Rawan Almass, Maysoon Alsagob, Zainab AlMasseri, Rozeena Huma, Laila AlQuait, Tarfa Al-Shidi, Eman Al-Obeid, Albandary AlBakheet, Basma Alahideb, Lujane Alahaidib, Alya Qari, Robert W Taylor, Dilek Colak, Moeenaldeen D AlSayed, Namik Kaya
SLC25A42-associated mitochondrial encephalomyopathy: Report of additional founder cases and functional characterization of a novel deletion. JIMD reports 60 (1) (2021)
Eva Medico Salsench, Reza Maroofian, Ruizhi Deng, Kristina Lanko, Anita Nikoncuk, Belén Pérez, Obdulia Sánchez-Lijarcio, Salvador Ibáñez-Mico, Antonina Wojcik, Marcelo Vargas, Nouriya Abbas Al-Sannaa, Marian Y Girgis, Tainá Regina Damaceno Silveira, Peter Bauer, Audrey Schroeder, Chin-To Fong, Amber Begtrup, Meisam Babaei, Mehran Beiraghi Toosi, Farah Ashrafzadeh, Shima Imannezhad, Mohammad Doosti, Najmeh Ahangari, Paria Najarzadeh Torbati, Ehsan Ghayoor Karimiani, David Murphy, Elisa Cali, Ibrahim H Kaya, Mohammed A Al-Muhaizea, Dilek Colak, Kelly J Cardona-Londoño, Stefan T Arold, Henry Houlden, Aida Bertoli-Avella, Namik Kaya, Tahsin Stefan Barakat
Expanding the mutational landscape and clinical phenotype of the YIF1B related brain disorder. Brain : a journal of neurology 144 (10) (2021)
Mohammed AlMuhaizea, Rawan AlMass, Aljouhra AlHargan, Anoud AlBader, Eva Medico Salsench, Jude Howaidi, Jacie Ihinger, Peter Karachunski, Amber Begtrup, Monica Segura Castell, Peter Bauer, Aida Bertoli-Avella, Ibrahim H Kaya, Jumanah AlSufayan, Laila AlQuait, Aziza Chedrawi, Stefan T Arold, Dilek Colak, Tahsin Stefan Barakat, Namik Kaya
Truncating mutations in YIF1B cause a progressive encephalopathy with various degrees of mixed movement disorder, microcephaly, and epilepsy. Acta neuropathologica 139 (4) (2020)
Mohammad A Al-Muhaizea, Faten AlMutairi, Rawan Almass, Safinaz AlHarthi, Mazhor S Aldosary, Maysoon Alsagob, Ali AlOdaib, Dilek Colak, Namik Kaya
A Novel Homozygous Mutation in SPTBN2 Leads to Spinocerebellar Ataxia in a Consanguineous Family: Report of a New Infantile-Onset Case and Brief Review of the Literature. Cerebellum (London, England) 17 (3) (2019)
Maysoon Alsagob, Mustafa A Salih, Muddathir H A Hamad, Yusra Al-Yafee, Jawaher Al-Zahrani, Albandary Al-Bakheet, Michael Nester, Nadia Sakati, Salma M Wakil, Ali AlOdaib, Dilek Colak, Namik Kaya
First report of two successive deletions on chromosome 15q13 cytogenetic bands in a boy and girl: additional data to 15q13.3 syndrome with a report of high IQ patient. Molecular cytogenetics 12 (2019)
Zuhair N Al-Hassnan, Waad Albawardi, Faten Almutairi, Rawan AlMass, Albandary AlBakheet, Osama M Mustafa, Laila AlQuait, Zarghuna M A Shinwari, Salma Wakil, Mustafa A Salih, Majid Al-Fayyadh, Saeed M Hassan, Mansour Aljoufan, Osima Al-Nakhli, Brynn Levy, Balsam AlMaarik, Hana A Al-Hakami, Maysoon Alsagob, Dilek Colak, Namik Kaya
Identification of novel genomic imbalances in Saudi patients with congenital heart disease. Molecular cytogenetics 11 (2018)

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Publication Activity (10 Years)

Top Topics

Top Venues

Namik Kaya