A null founder variant in NPNT, encoding nephronectin, causes autosomal recessive renal agenesis
Al‐Hamed, Mohamed H., Altuwaijri, Norah, Alsahan, Nada, Ali, Wafaa, Abdulwahab, Firdous, Alzahrani, Fatema, Majrashi, Nada, Alkuraya, Fowzan S.
Published in Clinical genetics (01.07.2022)
Published in Clinical genetics (01.07.2022)
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A discarded synonymous variant in NPHP3 explains nephronophthisis and congenital hepatic fibrosis in several families
Olinger, Eric, Alawi, Intisar Al, Al Riyami, Mohammed S., Salmi, Isa Al, Molinari, Elisa, Faqeih, Eissa Ali, Al‐Hamed, Mohamed H., Barroso‐Gil, Miguel, Powell, Laura, Al‐Hussaini, Abdulrahman A., Rahim, Khawla A., Almontashiri, Naif A. M., Miles, Colin, Shril, Shirlee, Hildebrandt, Friedhelm, Consortium, Genomics England Research, Wilson, Ian J., Sayer, John A.
Published in Human mutation (01.10.2021)
Published in Human mutation (01.10.2021)
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Exome sequencing unravels genetic variants associated with chronic kidney disease in Saudi Arabian patients
Al‐Hamed, Mohamed H., Hussein, Maged H., Shah, Yaser, Al‐Mojalli, Hamad, Alsabban, Essam, Alshareef, Turki, Altayyar, Ali, Elshouny, Samir, Ali, Wafaa, Abduljabbar, Mai, AlOtaibi, Afaf, AlShammasi, Amal, Akili, Rana, Abouelhoda, Mohamed, Sayer, John A., Dasouki, Majed J., Imtiaz, Faiqa
Published in Human mutation (01.12.2022)
Published in Human mutation (01.12.2022)
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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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A molecular genetic analysis of childhood nephrotic syndrome in a cohort of Saudi Arabian families
Al-Hamed, Mohamed H, Al-Sabban, Essam, Al-Mojalli, Hamad, Al-Harbi, Naffaa, Faqeih, Eissa, Al Shaya, Hammad, Alhasan, Khalid, Al-Hissi, Safaa, Rajab, Mohamed, Edwards, Noel, Al-Abbad, Abbas, Al-Hassoun, Ibrahim, Sayer, John A, Meyer, Brian F
Published in Journal of human genetics (01.07.2013)
Published in Journal of human genetics (01.07.2013)
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Spectrum of mutations underlying Propionic acidemia and further insight into a genotype-phenotype correlation for the common mutation in Saudi Arabia
Al-Hamed, Mohamed H., Imtiaz, Faiqa, Al-Hassnan, Zuhair, Al-Owain, Mohammed, Al-Zaidan, Hamad, Alamoudi, Mohamed S., Faqeih, Eissa, Alfadhel, Majid, Al-Asmari, Ali, Saleh, M.M., Al Mutairi, Fuad, Moghrabi, Nabil, AlSayed, Moeenaldeen
Published in Molecular genetics and metabolism reports (01.03.2019)
Published in Molecular genetics and metabolism reports (01.03.2019)
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Functional modelling of a novel mutation in BBS5
Al-Hamed, Mohamed H, van Lennep, Charles, Hynes, Ann Marie, Chrystal, Paul, Eley, Lorraine, Al-Fadhly, Fatimah, El Sayed, Riham, Simms, Roslyn J, Meyer, Brian, Sayer, John A
Published in Cilia (London) (21.02.2014)
Published in Cilia (London) (21.02.2014)
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Twenty novel mutations in BCKDHA, BCKDHB and DBT genes in a cohort of 52 Saudi Arabian patients with maple syrup urine disease
Imtiaz, Faiqa, Al-Mostafa, Abeer, Allam, Rabab, Ramzan, Khushnooda, Al-Tassan, Nada, Tahir, Asma I., Al-Numair, Nouf S., Al-Hamed, Mohamed H., Al-Hassnan, Zuhair, Al-Owain, Mohammad, Al-Zaidan, Hamad, Al-Amoudi, Mohammad, Qari, Alya, Balobaid, Ameera, Al-Sayed, Moeenaldeen
Published in Molecular genetics and metabolism reports (01.06.2017)
Published in Molecular genetics and metabolism reports (01.06.2017)
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Recessive, Deleterious Variants in SMG8 Expand the Role of Nonsense-Mediated Decay in Developmental Disorders in Humans
Alzahrani, Fatema, Kuwahara, Hiroyuki, Long, Yongkang, Al-Owain, Mohammed, Tohary, Mohamed, AlSayed, Moeenaldeen, Mahnashi, Mohammed, Fathi, Lana, Alnemer, Maha, Al-Hamed, Mohamed H., Lemire, Gabrielle, Boycott, Kym M., Hashem, Mais, Han, Wenkai, Al-Maawali, Almundher, Al Mahrizi, Feisal, Al-Thihli, Khalid, Gao, Xin, Alkuraya, Fowzan S.
Published in American journal of human genetics (03.12.2020)
Published in American journal of human genetics (03.12.2020)
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Novel loss of function variants in FRAS1 AND FREM2 underlie renal agenesis in consanguineous families
Al-Hamed, Mohamed H., Sayer, John A., Alsahan, Nada, Tulbah, Maha, Kurdi, Wesam, Ambusaidi, Qamariya, Ali, Wafaa, Imtiaz, Faiqa
Published in Journal of nephrology (01.06.2021)
Published in Journal of nephrology (01.06.2021)
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Identification of compound heterozygous KCNJ1 mutations (encoding ROMK) in a kindred with Bartter's syndrome and a functional analysis of their pathogenicity
Srivastava, Shalabh, Li, Dimin, Edwards, Noel, Hynes, Ann‐M., Wood, Katrina, Al‐Hamed, Mohamed, Wroe, Anna C., Reaich, David, Moochhala, Shabbir H., Welling, Paul A., Sayer, John A.
Published in Physiological reports (01.11.2013)
Published in Physiological reports (01.11.2013)
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Prevalence of Parkinson's disease and other types of Parkinsonism in Al Kharga district, Egypt
El-Tallawy, Hamdy N, Farghaly, Wafaa M, Shehata, Ghaydaa A, Rageh, Tarek A, Hakeem, Nabil M Abdel, Hamed, Mohamed Abd Al, Badry, Reda
Published in Neuropsychiatric disease and treatment (01.01.2013)
Published in Neuropsychiatric disease and treatment (01.01.2013)
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Bialleleic PKD1 mutations underlie early-onset autosomal dominant polycystic kidney disease in Saudi Arabian families
Al-Hamed, Mohamed H., Alsahan, Nada, Rice, Sarah J., Edwards, Noel, Nooreddeen, Eman, Alotaibi, Maha, Kurdi, Wesam, Alnemer, Maha, Altaleb, Naderah, Ali, Wafa, Al-Numair, Nouf, Almejaish, Najd, Sayer, John A., Imtiaz, Faiqa
Published in Pediatric nephrology (Berlin, West) (01.09.2019)
Published in Pediatric nephrology (Berlin, West) (01.09.2019)
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Phenotypic and Genotypic Characterization of Hereditary Angioedema in Saudi Arabia
Sheikh, Farrukh, Alajlan, Huda, Albanyan, Maram, Alruwaili, Hibah, Alawami, Fatimah, Sumayli, Safia, Al Gazlan, Sulaiman, Abu Awwad, Sawsan, Al-Dhekri, Hasan, Al-Saud, Bandar, Arnaout, Rand, Alrayes, Hassan, Sayes, Najla, Al-Hamed, Mohamed H., Al-Mousa, Hamoud, AlShareef, Saad, Alazami, Anas M.
Published in Journal of clinical immunology (01.02.2023)
Published in Journal of clinical immunology (01.02.2023)
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Missense Variants in GFRA1 and NPNT Are Associated with Congenital Anomalies of the Kidney and Urinary Tract
Al-Hamed, Mohamed H, Sayer, John A, Alsahan, Nada, Edwards, Noel, Ali, Wafaa, Tulbah, Maha, Imtiaz, Faiqa
Published in Genes (21.09.2022)
Published in Genes (21.09.2022)
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Genetic spectrum of Saudi Arabian patients with antenatal cystic kidney disease and ciliopathy phenotypes using a targeted renal gene panel
Al-Hamed, Mohamed H, Kurdi, Wesam, Alsahan, Nada, Alabdullah, Zainab, Abudraz, Rania, Tulbah, Maha, Alnemer, Maha, Khan, Rubina, Al-Jurayb, Haya, Alahmed, Ahmed, Tahir, Asma I, Khalil, Dania, Edwards, Noel, Al Abdulaziz, Basma, Binhumaid, Faisal S, Majid, Salma, Faquih, Tariq, El-Kalioby, Mohamed, Abouelhoda, Mohamed, Altassan, Nada, Monies, Dorota, Meyer, Brian, Sayer, John A, Albaqumi, Mamdouh
Published in Journal of medical genetics (01.05.2016)
Published in Journal of medical genetics (01.05.2016)
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Novel pathogenic MAPKBP1 variant in a family with nephronophthisis
Al-Hamed, Mohamed H, Alzaidan, Hamad, Hussein, Maged, Albaik, Lina, Qari, Alya, Sayer, John A, Imtiaz, Faiqa
Published in Clinical Kidney Journal (01.02.2021)
Published in Clinical Kidney Journal (01.02.2021)
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