Whole exome sequencing of a consanguineous family identifies the possible modifying effect of a globally rare AK5 allelic variant in celiac disease development among Saudi patients
Al-Aama, Jumana Yousuf, Shaik, Noor Ahmad, Banaganapalli, Babajan, Salama, Mohammed A, Rashidi, Omran, Sahly, Ahmed N, Mohsen, Mohammed O, Shawoosh, Harbi A, Shalabi, Hebah Ahmad, Edreesi, Mohammad Al, Alharthi, Sameer E, Wang, Jun, Elango, Ramu, Saadah, Omar I
Published in PloS one (15.05.2017)
Published in PloS one (15.05.2017)
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Journal Article
Whole exome sequencing identifies rare biallelic ALMS1 missense and stop gain mutations in familial Alström syndrome patients
Kamal, Naglaa M., Sahly, Ahmed N., Banaganapalli, Babajan, Rashidi, Omran M., Shetty, Preetha J., Al-Aama, Jumana Y., Shaik, Noor A., Elango, Ramu, Saadah, Omar I.
Published in Saudi journal of biological sciences (01.01.2020)
Published in Saudi journal of biological sciences (01.01.2020)
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Journal Article
Identification of a Rare Exon 19 Skipping Mutation in ALMS1 Gene in Alström Syndrome Patients From Two Unrelated Saudi Families
Saadah, Omar I, Banaganapalli, Babajan, Kamal, Naglaa M, Sahly, Ahmed N, Alsufyani, Hadeel A, Mohammed, Arif, Ahmad, Aftab, Nasser, Khalidah Khalid, Al-Aama, Jumana Y, Shaik, Noor Ahmad, Elango, Ramu
Published in Frontiers in pediatrics (26.04.2021)
Published in Frontiers in pediatrics (26.04.2021)
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Journal Article
SUDEP risk and autonomic dysfunction in genetic epilepsies
Sahly, Ahmed N., Shevell, Michael, Sadleir, Lynette G., Myers, Kenneth A.
Published in Autonomic neuroscience (01.01.2022)
Published in Autonomic neuroscience (01.01.2022)
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Journal Article
Severe DNM1 encephalopathy with dysmyelination due to recurrent splice site pathogenic variant
Sahly, Ahmed N., Krochmalnek, Eric, St-Onge, Judith, Srour, Myriam, Myers, Kenneth A.
Published in Human genetics (01.12.2020)
Published in Human genetics (01.12.2020)
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Journal Article
Genotype-phenotype correlation in CLCN4-related developmental and epileptic encephalopathy
Sahly, Ahmed N., Sierra-Marquez, Juan, Bungert-Plümke, Stefanie, Franzen, Arne, Mougharbel, Lina, Berrahmoune, Saoussen, Dassi, Christelle, Poulin, Chantal, Srour, Myriam, Guzman, Raul E., Myers, Kenneth A.
Published in Human genetics (01.05.2024)
Published in Human genetics (01.05.2024)
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Journal Article
Epilepsy surgery outcomes in patients with GATOR1 gene complex variants: Report of new cases and review of literature
Sahly, Ahmed N, Whitney, Robyn, Costain, Gregory, Chau, Vann, Otsubo, Hiroshi, Ochi, Ayako, Donner, Elizabeth J, Cunningham, Jessie, Jones, Kevin C, Widjaja, Elysa, Ibrahim, George M, Jain, Puneet
Published in Seizure (London, England) (01.04.2023)
Published in Seizure (London, England) (01.04.2023)
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Journal Article
The epileptology of Wiedemann-Steiner syndrome: Electroclinical findings in five patients with KMT2A pathogenic variants
Sahly, Ahmed N., Srour, Myriam, Buhas, Daniela, Scheffer, Ingrid E., Myers, Kenneth A.
Published in European journal of paediatric neurology (01.05.2023)
Published in European journal of paediatric neurology (01.05.2023)
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Journal Article
Defining the Genetic Landscape of Congenital Mirror Movements in 80 Affected Individuals
Collins Hutchinson, Meagan L., St‐Onge, Judith, Schlienger, Sabrina, Boudrahem‐Addour, Nassima, Mougharbel, Lina, Michaud, Jean‐Francois, Lloyd, Clara, Bruneau, Elena, Roux, Cedric, Sahly, Ahmed N., Osterman, Bradley, Myers, Kenneth A., Rouleau, Guy A., Jimenez Cruz, Daniel Alexander, Rivière, Jean‐Baptiste, Accogli, Andrea, Charron, Frederic, Srour, Myriam
Published in Movement disorders (01.02.2024)
Published in Movement disorders (01.02.2024)
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Journal Article
Molecular differential analysis of uterine leiomyomas and leiomyosarcomas through weighted gene network and pathway tracing approaches
Sahly, Nora Naif, Banaganapalli, Babajan, Sahly, Ahmed N., Aligiraigri, Ali H., Nasser, Khalidah K., Shinawi, Thoraia, Mohammed, Arif, Alamri, Abdulhakeem S., Bondagji, Nabeel, Elango, Ramu, Shaik, Noor Ahmad
Published in Systems biology in reproductive medicine (04.05.2021)
Published in Systems biology in reproductive medicine (04.05.2021)
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Journal Article
An unusual presentation of hemoglobin SD Punjab in a Saudi Arabian adult
Adam, Soheir S., Sahly, Ahmed N., Jamjoom, Ahmed A., Ghoneim, Abdulrahman H., Almasoudi, Thunayyan M., Mohsen, Mohammed O., Badawi, Maha A.
Published in International journal of research in medical sciences (28.03.2017)
Published in International journal of research in medical sciences (28.03.2017)
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Journal Article
Clinical complications of hemoglobinopathies in western Saudi Arabia and the need for specialized care centers
al-Masudi, Thanayyan Muhammad, Hindawi, Salwa Ibrahim, Jamjum, Ahmad Asim, Ghunaym, Abd al-Rahman Husam al-Din, Sahli, Ahmad Nayif, Badawi, Maha Abd al-Razzaq, Adam, Suhayr Said, Zahir, Jalilah Faysal
Published in Journal of King Abdulaziz University. Medical sciences (01.01.2019)
Published in Journal of King Abdulaziz University. Medical sciences (01.01.2019)
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Journal Article