Search Results - "AlSubaie, Lamia"

Biallelic variants in COPB1 cause a novel, severe intellectual disability syndrome with cataracts and variable microcephaly by Macken, William L, Godwin, Annie, Wheway, Gabrielle, Stals, Karen, Nazlamova, Liliya, Ellard, Sian, Alfares, Ahmed, Aloraini, Taghrid, AlSubaie, Lamia, Alfadhel, Majid, Alajaji, Sulaiman, Wai, Htoo A, Self, Jay, Douglas, Andrew G L, Kao, Alexander P, Guille, Matthew, Baralle, Diana

“…Coat protein complex 1 (COPI) is integral in the sorting and retrograde trafficking of proteins and lipids from the Golgi apparatus to the endoplasmic…”
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Supplementary testing after negative or inconclusive exome sequencing results by AlMaarik, Balsam, Aloraini, Taghrid, Paclejan, Roselyn, Balwi, Mohammed, Alsubaie, Lamia, Alswaid, Abdulrahman, Eyiad, Wafaa, Mutairi, Fuad, Ababneh, Faroug, Alfadhel, Majid, Alfares, Ahmed

“…Background: Accurate diagnosis benefits patients and their families by directing clinical management; predicting recurrence risks; providing prognosis; and…”
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What is the right sequencing approach? Solo VS extended family analysis in consanguineous populations by Alfares, Ahmed, Alsubaie, Lamia, Aloraini, Taghrid, Alaskar, Aljoharah, Althagafi, Azza, Alahmad, Ahmed, Rashid, Mamoon, Alswaid, Abdulrahman, Alothaim, Ali, Eyaid, Wafaa, Ababneh, Faroug, Albalwi, Mohammed, Alotaibi, Raniah, Almutairi, Mashael, Altharawi, Nouf, Alsamer, Alhanouf, Abdelhakim, Marwa, Kafkas, Senay, Mineta, Katsuhiko, Cheung, Nicole, Abdallah, Abdallah M, Büchmann-Møller, Stine, Fukasawa, Yoshinori, Zhao, Xiang, Rajan, Issaac, Hoehndorf, Robert, Al Mutairi, Fuad, Gojobori, Takashi, Alfadhel, Majid

“…Testing strategies is crucial for genetics clinics and testing laboratories. In this study, we tried to compare the hit rate between solo and trio and trio…”
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Genetic carrier screening for disorders included in newborn screening in the Saudi population by Eissa, Mariam, Aloraini, Taghrid, Alsubaie, Lamia, Alswaid, Abdulrahman, Eyiad, Wafaa, Mutairi, Fuad, Ababneh, Faroug, Alfadhel, Majid, Alfares, Ahmed

“…Background: Inborn errors of metabolism (IEM) are prevalent autosomal recessive disorders in Saudi Arabia. Socio-economic factors, such as consanguineous…”
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Genetic impact of non-consanguineous marriages in Saudi Arabia by Alyahya, Mohammed, Aloraini, Taghrid, Al-Harbi, Youseef, Alsubaie, Lamia, Alswaid, Abdulrahman, Eyaid, Wafaa, Mutairi, Fuad, Ababneh, Faroug, Alfadhel, Majid, Alfares, Ahmed

“…Background: Physicians and geneticists face challenges in making accurate diagnoses during clinical evaluations; affecting patients and clinicians. The aim of…”
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Clinical reassessment of post-laboratory variant call format (VCF) files by Alsubaie, Lamia, Alturki, Saeed, Alothaim, Ali, Alfares, Ahmed

“…Background: Next-generation sequencing has been leading the genetic study of human disease for the past 10 years, generating a huge amount of sequence variant…”
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Expanding the genetic and phenotypic spectrum of popliteal pterygium disorders by Leslie, Elizabeth J., O'Sullivan, James, Cunningham, Michael L., Singh, Ankur, Goudy, Steven L., Ababneh, Faroug, Alsubaie, Lamia, Ch'ng, Gaik-Siew, van der Laar, Ingrid M. B. H., M. Hoogeboom, A. Jeannette, Dunnwald, Martine, Kapoor, Seema, Jiramongkolchai, Pawina, Standley, Jennifer, Manak, J. Robert, Murray, Jeffrey C., Dixon, Michael J.

“…The popliteal pterygia syndromes are a distinct subset of the hundreds of Mendelian orofacial clefting syndromes. Popliteal pterygia syndromes have…”
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Novel mutation of the FHL1 gene associated with congenital myopathy and early respiratory muscles involvement: a case report by Almutairi, Rana, Alrashidi, Sara, Umair, Muhammed, Alshalan, Maha, Alsubaie, Lamia, Aloraini, Taghrid, Ahmad, Ahmed, Alfares, Ahmed, Mutairi, Fuad

“…Background: Congenital myopathies are a diverse group of diseases that share features from the early onset of symptoms in the first year of life, such as…”
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Common disease-associated gene variants in a Saudi Arabian population by Aleissa, Mariam, Aloraini, Taghrid, Alsubaie, Lamia Fahad, Hassoun, Madawi, Abdulrahman, Ghada, Swaid, Abdulrahman, Eyaid, Wafa Al, Mutairi, Fuad Al, Ababneh, Faroug, Alfadhel, Majid, Alfares, Ahmed

“…Screening programs for the most prevalent conditions occurring in a country is an evidence-based prevention strategy. The burden of autosomal recessive disease…”
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DeepSVP: integration of genotype and phenotype for structural variant prioritization using deep learning by Althagafi, Azza, Alsubaie, Lamia, Kathiresan, Nagarajan, Mineta, Katsuhiko, Aloraini, Taghrid, Al Mutairi, Fuad, Alfadhel, Majid, Gojobori, Takashi, Alfares, Ahmad, Hoehndorf, Robert

“…Abstract Motivation Structural genomic variants account for much of human variability and are involved in several diseases. Structural variants are complex and…”
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Prevalence of BRCA1 and BRCA2 Mutations Among High-Risk Saudi Patients With Breast Cancer by Abulkhair, Omalkhair, Al Balwi, Mohammed, Makram, Ola, Alsubaie, Lamia, Faris, Medhat, Shehata, Hussam, Hashim, Ahmed, Arun, Banu, Saadeddin, Ahmed, Ibrahim, Ezzeldin

“…Purpose Over the past three decades, the incidence rate of breast cancer (BC) among Arab women has continually increased. However, data on the prevalence of…”
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Durable Response to Nivolumab in a Pediatric Patient with Refractory Glioblastoma and Constitutional Biallelic Mismatch Repair Deficiency by AlHarbi, Musa, Ali Mobark, Nahla, AlMubarak, Latifa, Aljelaify, Rasha, AlSaeed, Mariam, Almutairi, Amal, Alqubaishi, Fatmah, Hussain, M. Emarat, Balbaid, Ali Abdullah O., Said Marie, Amal, AlSubaie, Lamia, AlShieban, Saeed, alTassan, Nada, Ramkissoon, Shakti H., Abedalthagafi, Malak

“…Primary brain tumors are a leading cause of cancer‐related morbidity and mortality in children. Glioblastoma (GBM) is a high‐grade astrocytoma that occurs in…”
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The rate of secondary genomic findings in the Saudi population by Aloraini, Taghrid, Alsubaie, Lamia, Alasker, Sarah, Al Muitiri, Abdulrahman, Alswaid, Abdulrahman, Eyiad, Wafaa, Al Mutairi, Fuad, Ababneh, Farouq, Alfadhel, Majid, Alfares, Ahmed

“…Secondary findings (SF) are defined as genetic conditions discovered unintentionally during an evaluation of raw data for another disease. We aimed to identify…”
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A new association between CDK5RAP2 microcephaly and congenital cataracts by Alfares, Ahmed, Alhufayti, Ibtihal, Alsubaie, Lamia, Alowain, Mohammed, Almass, Rawan, Alfadhel, Majid, Kaya, Namik, Eyaid, Wafaa

“…Introduction Primary microcephaly type 3 is a genetically heterogeneous condition caused by a homozygous or compound heterozygous mutation in CDK5 regulatory…”
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EMC10 homozygous variant identified in a family with global developmental delay, mild intellectual disability, and speech delay by Umair, Muhammad, Ballow, Mariam, Asiri, Abdulaziz, Alyafee, Yusra, Tuwaijri, Abeer, Alhamoudi, Kheloud M., Aloraini, Taghrid, Abdelhakim, Marwa, Althagafi, Azza Thamer, Kafkas, Senay, Alsubaie, Lamia, Alrifai, Muhammad Talal, Hoehndorf, Robert, Alfares, Ahmed, Alfadhel, Majid

“…In recent years, several genes have been implicated in the variable disease presentation of global developmental delay (GDD) and intellectual disability (ID)…”
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The variant artificial intelligence easy scoring (VARIES) system by Aloraini, Taghrid, Aljouie, Abdulrhman, Alniwaider, Rashed, Alharbi, Wardah, Alsubaie, Lamia, AlTuraif, Wafaa, Qureshi, Waseem, Alswaid, Abdulrahman, Eyiad, Wafaa, Al Mutairi, Fuad, Ababneh, Faroug, Alfadhel, Majid, Alfares, Ahmed

“…Medical artificial intelligence (MAI) is artificial intelligence (AI) applied to the healthcare field. AI can be applied to many different aspects of genetics,…”
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MEFV c.2230G>T p.(Ala744Ser) rs61732874 previously misclassified as pathogenic variant due to lack of a population specific database by Alsubaie, Lamia, Alkhalaf, Randa, Aloraini, Taghrid, Amoudi, Manal, Swaid, Abdulrahman, Al Mutairi, Fuad, Alfadhel, Majid, Eyaid1, Wafaa, Sewairi, Wafaa, Alfares, Ahmed

“…Background Familial Mediterranean fever is a hereditary inflammatory disorder caused by variants in MEFV. c.2230G>T p.(Ala744Ser) rs61732874 is considered to…”
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Genomic testing and counseling: The contribution of next‐generation sequencing to epilepsy genetics by Alsubaie, Lamia, Aloraini, Taghrid, Amoudi, Manal, Swaid, Abdulrahman, Eyiad, Wafaa, Al Mutairi, Fuad, Ababneh, Farouq, Alrifai, Muhammad Talal, Baarmah, Duaa, Altwaijri, Waleed, Alotaibi, Naser, Harthi, Ashraf, Rumayyan, Ahmad, Alanazi, Ali, Qrimli, Mohammad, Alfadhel, Majid, Alfares, Ahmed

“…Introduction Currently, next‐generation sequencing (NGS) technology is more accessible and available to detect the genetic causation of diseases. Though NGS…”
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Knowledge and attitude of physicians, cancer patients and the public concerning cancer-related genetic tests in Saudi Arabia by Gilvary, Lamia

“…Background: To evaluate knowledge and attitude toward cancer genetic tests (CGT) and cancer genetic counseling for improving underdeveloped CGT services and to…”
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IMMU-01. DURABLE RESPONSE TO NIVOLUMAB IN A PEDIATRIC PATIENT WITH REFRACTORY GLIOBLASTOMA AND CONSTITUTIONAL BIALLELIC MISMATCH REPAIR DEFICIENCY by AlHarbi, Musa, Mobark, Nahla Ali, Al-Mubarak, Latifa, Alaljelaify, Rasha, AlSaeed, Mariam, Almutairi, Amal, Alqubaishi, Fatmah, Hussain, Emarat, AlSubaie, Lamia, AlShieban, Saeed, alTassan, Nada, Ramkissoon, Shakti H, Abedalthagafi, Malak

“…Abstract Constitutional biallelic mismatch repair deficiency CMMR-D is a rare childhood cancer predisposition syndrome. Detection of CMMR-D in pediatric HGG is…”
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