Biallelic Mutations in Tetratricopeptide Repeat Domain 26 (Intraflagellar Transport 56) Cause Severe Biliary Ciliopathy in Humans

Authors: Shaheen, Ranad, Alsahli, Saud, Ewida, Nour, Alzahrani, Fatema, Shamseldin, Hanan E., Patel, Nisha, Al Qahtani, Awad, Alhebbi, Homoud, Alhashem, Amal, Al‐Sheddi, Tarfa, Alomar, Rana, Alobeid, Eman, Abouelhoda, Mohamed, Monies, Dorota, Al‐Hussaini, Abdulrahman, Alzouman, Muneerah A., Shagrani, Mohammad, Faqeih, Eissa, Alkuraya, Fowzan S.

Source: Hepatology. 71(6):2067-2079

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100107538327.0x000001&indx=1&recIds=ETOCvdc_100107538327.0x000001

Genomic and phenotypic delineation of congenital microcephaly

Authors: Shaheen, Ranad, Maddirevula, Sateesh, Ewida, Nour, Alsahli, Saud, Abdel-Salam, Ghada M.H., Zaki, Maha S., Tala, Saeed Al, Alhashem, Amal, Softah, Ameen, Al-Owain, Mohammed, Alazami, Anas M., Abadel, Basma, Patel, Nisha, Al-Sheddi, Tarfa, Alomar, Rana, Alobeid, Eman, Ibrahim, Niema, Hashem, Mais, Abdulwahab, Firdous, Hamad, Muddathir, Tabarki, Brahim, Alwadei, Ali H., Alhazzani, Fahad, Bashiri, Fahad A., Kentab, Amal, Şahintürk, Serdar, Sherr, Elliott, Fregeau, Brieana, Sogati, Samira, Alshahwan, Saad Ali M., Alkhalifi, Salwa, Alhumaidi, Zainab, Temtamy, Samia, Aglan, Mona, Otaify, Ghada, Girisha, Katta M., Tulbah, Maha, Seidahmed, Mohammed Zain, Salih, Mustafa A., Abouelhoda, Mohamed, Momin, Afaque A., Saffar, Muna Al, Partlow, Jennifer N., Arold, Stefan T., Faqeih, Eissa, Walsh, Christopher, Alkuraya, Fowzan S. ^*

Source: In Genetics in Medicine March 2019 21(3):545-552

Expanding the phenome and variome of skeletal dysplasia

Authors: Maddirevula, Sateesh, Alsahli, Saud, Alhabeeb, Lamees, Patel, Nisha, Alzahrani, Fatema, Shamseldin, Hanan E., Anazi, Shams, Ewida, Nour, Alsaif, Hessa S., Mohamed, Jawahir Y., Alazami, Anas M., Ibrahim, Niema, Abdulwahab, Firdous, Hashem, Mais, Abouelhoda, Mohamed, Monies, Dorota, Al Tassan, Nada, Alshammari, Muneera, Alsagheir, Afaf, Seidahmed, Mohammed Zain, Sogati, Samira, Aglan, Mona S, Hamad, Muddathir H., Salih, Mustafa A., Hamed, Ahlam A., Alhashmi, Nadia, Nabil, Amira, Alfadli, Fatima, Abdel-Salam, Ghada M.H., Alkuraya, Hisham, Peitee, Winnie Ong, Keng, W.T., Qasem, Abdullah, Mushiba, Aziza M., Zaki, Maha S, Fassad, Mahmoud R., Alfadhel, Majid, Alexander, Saji, Sabr, Yasser, Temtamy, Samia, Ekbote, Alka V, Ismail, Samira, Hosny, Gamal Ahmed, Otaify, Ghada A., Amr, Khalda, Al Tala, Saeed, Khan, Arif O., Rizk, Tamer, Alaqeel, Aida, Alsiddiky, Abdulmonem, Singh, Ankur, Kapoor, Seema, Alhashem, Amal, Faqeih, Eissa, Shaheen, Ranad, Alkuraya, Fowzan S.

Source: In Genetics in Medicine December 2018 20(12):1609-1616

Seasonal variations of respiratory viruses detected from children with respiratory tract infections in Riyadh, Saudi Arabia

Authors: Albogami, Saad S., Alotaibi, Meshal R., Alsahli, Saud A., Masuadi, Emad, Alshaalan, Mohammad

Source: In Journal of Infection and Public Health March-April 2018 11(2):183-186

Truncating biallelic variant in DNAJA1, encoding the co-chaperone Hsp40, is associated with intellectual disability and seizures

Authors: Alsahli, Saud, Alfares, Ahmed, Guzmán-Vega, Francisco J., Arold, Stefan T., Ba-Armah, Duaa, Al Mutairi, Fuad

Source: Neurogenetics. 20(2):109-115

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A multicenter clinical exome study in unselected cohorts from a consanguineous population of Saudi Arabia demonstrated a high diagnostic yield

Authors: Alfares, Ahmed, Alfadhel, Majid, Wani, Tariq, Alsahli, Saud, Alluhaydan, Iram, Al Mutairi, Fuad, Alothaim, Ali, Albalwi, Mohammed, Al subaie, Lamia, Alturki, Saeed, Al-Twaijri, Waleed, Alrifai, Muhammad, Al-Rumayya, Ahmed, Alameer, Seham, Faqeeh, Eissa, Alasmari, Ali, Alsamman, Abdulaziz, Tashkandia, Soha, Alghamdi, Abdulaziz, Alhashem, Amal, Tabarki, Brahim, AlShahwan, Saad, Hundallah, Khalid, Wali, Sami, Al-Hebbi, Homoud, Babiker, Amir, Mohamed, Sarar, Eyaid, Wafaa, Zada, Abdul Ali Peer

Source: In Molecular Genetics and Metabolism June 2017 121(2):91-95

Assessing satisfaction, quality of life, and HbA1c changes in type 1 diabetes patients who are using freestyle libre glucose monitoring.

Authors: Alsahli, Majed A., Alalwan, Abdulaziz, Aburisheh, Khaled H., Alarifi, Faisal F., Alshaya, Hesham M., Alkholaif, Abdulrahman F., Shadid, Abdulrahman M., Alsahli, Saud A., Alsahly, Abdullaziz A., Alkhalifah, Mohammed K.

Source: Journal of Family Medicine & Primary Care; Jun2024, Vol. 13 Issue 6, p2367-2374, 8p

Subject Terms: CONTINUOUS glucose monitoring, BLOOD sugar monitoring, TYPE 1 diabetes, BLOOD sugar, SATISFACTION

KIF16B is a candidate gene for a novel autosomal‐recessive intellectual disability syndrome

Authors: Alsahli, Saud, Arold, Stefan T., Alfares, Ahmed, Alhaddad, Bader, Al Balwi, Mohammed, Kamsteeg, Erik‐Jan, Al‐Twaijri, Waleed, Alfadhel, Majid

Source: American journal of medical genetics.Part A. 176(7):1602-1609

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Correction to: Expanding the genetic heterogeneity of intellectual disability

Authors: Anazi, Shams, Maddirevula, Sateesh, Salpietro, Vincenzo, Asi, Yasmine T., Alsahli, Saud, Alhashem, Amal, Shamseldin, Hanan E., AlZahrani, Fatema, Patel, Nisha, Ibrahim, Niema, Abdulwahab, Firdous M., Hashem, Mais, Alhashmi, Nadia, Al Murshedi, Fathiya, Al Kindy, Adila, Alshaer, Ahmad, Rumayyan, Ahmed, Al Tala, Saeed, Kurdi, Wesam, Alsaman, Abdulaziz, Alasmari, Ali, Banu, Selina, Sultan, Tipu, Saleh, Mohammed M., Alkuraya, Hisham, Salih, Mustafa A., Aldhalaan, Hesham, Ben-Omran, Tawfeg, Al Musafri, Fatima, Ali, Rehab, Suleiman, Jehan, Tabarki, Brahim, El-Hattab, Ayman W., Bupp, Caleb, Alfadhel, Majid, Al Tassan, Nada, Monies, Dorota, Arold, Stefan T., Abouelhoda, Mohamed, Lashley, Tammaryn, Houlden, Henry, Faqeih, Eissa, Alkuraya, Fowzan S.

Source: Human genetics. 137(1):105-109

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100125870734.0x000001&indx=1&recIds=ETOCvdc_100125870734.0x000001

Advanced Photoelectrochemical Hydrogen Generation by CdO-g-C 3 N 4 in Aqueous Medium under Visible Light.

Authors: Iqbal, Naseer, Khan, Muhammad Shahzeb, Zubair, Muhammad, Khan, Safyan Akram, Ali, Asghar, Aldhafeeri, Naif, Alsahli, Saud, Alanzi, Misheal, Enazi, Abdelazeez, Alroyle, Talal, Alrashidi, Abdullatif

Source: Molecules; Dec2022, Vol. 27 Issue 24, p8646, 16p

Subject Terms: VISIBLE spectra, INTERSTITIAL hydrogen generation, PHOTOELECTROCHEMISTRY, ELECTRON-hole recombination, PHOTOCATHODES, NANOSTRUCTURED materials, BAND gaps

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Severe Crohn's Disease Manifestations in a Child with Cystathionine β-Synthase Deficiency.

Authors: Alsahli, Saud^1,2, Al Anazi, Aziz^1,3, Al Hatlani, Maher M.^1,3, Kashgari, Amna^1,4, Al Sufiani, Fahd^1,5, Alfadhel, Majid^1,2, Al Mutairi, Fuad^1,2 almutairifu@ngha.med.sa

Source: ACG Case Reports Journal. 12/6/2018, Vol. 5, p1-4. 4p.

Confirming the pathogenicity of NECAP1 in early onset epileptic encephalopathy.

Authors: Alsahli, Saud, Al‐Twaijri, Waleed, Al Mutairi, Fuad

Source: Epilepsia Open; Dec2018, Vol. 3 Issue 4, p524-527, 4p

Subject Terms: ENDOCYTOSIS, ION channels, MICROBIAL virulence

Aortic calcification in Gaucher disease: a case report.

Authors: Alsahli, Saud, Bubshait, Dalal K, Rahbeeni, Zuhair A, Alfadhel, Majid

Source: Application of Clinical Genetics; Oct2018, Vol. 11, p107-110, 4p

Subject Terms: GAUCHER'S disease, AORTIC diseases, CALCIFICATION, DISEASE complications, MEDICAL care

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Correction to: Expanding the genetic heterogeneity of intellectual disability.

Authors: Anazi, Shams, Maddirevula, Sateesh, Salpietro, Vincenzo, Asi, Yasmine T., Alsahli, Saud, Alhashem, Amal, Shamseldin, Hanan E., AlZahrani, Fatema, Patel, Nisha, Ibrahim, Niema, Abdulwahab, Firdous M., Hashem, Mais, Alhashmi, Nadia, Al Murshedi, Fathiya, Al Kindy, Adila, Alshaer, Ahmad, Rumayyan, Ahmed, Al Tala, Saeed, Kurdi, Wesam, Alsaman, Abdulaziz

Source: Human Genetics; Jan2018, Vol. 137 Issue 1, p105-109, 5p

Subject Terms: INTELLECTUAL disabilities, HETEROGENEITY, GENETICS

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