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Page 1
Further phenotypic delineation of Alazami syndrome.
Al-Hinai A, Al-Hashmi S, Ganesh A, Al-Hashmi N, Al-Saegh A, Al-Mamari W, Al-Murshedi F, Al-Thihli K, Al-Kindi A, Al-Maawali A. Al-Hinai A, et al. Among authors: al saegh a. Am J Med Genet A. 2022 Aug;188(8):2485-2490. doi: 10.1002/ajmg.a.62778. Epub 2022 May 14. Am J Med Genet A. 2022. PMID: 35567578
The diagnostic yield, candidate genes, and pitfalls for a genetic study of intellectual disability in 118 middle eastern families.
Al-Kasbi G, Al-Murshedi F, Al-Kindi A, Al-Hashimi N, Al-Thihli K, Al-Saegh A, Al-Futaisi A, Al-Mamari W, Al-Asmi A, Bruwer Z, Al-Kharusi K, Al-Rashdi S, Zadjali F, Al-Yahyaee S, Al-Maawali A. Al-Kasbi G, et al. Among authors: al saegh a. Sci Rep. 2022 Nov 7;12(1):18862. doi: 10.1038/s41598-022-22036-z. Sci Rep. 2022. PMID: 36344539 Free PMC article.
LHFPL5 mutation: A rare cause of non-syndromic autosomal recessive hearing loss.
Al-Amri AH, Al Saegh A, Al-Mamari W, El-Asrag ME, Al-Kindi MN, Al Khabouri M, Al Wardy N, Al Lamki K, Gabr A, Idris A, Inglehearn CF, Clapcote SJ, Ali M. Al-Amri AH, et al. Among authors: al saegh a. Eur J Med Genet. 2019 Dec;62(12):103592. doi: 10.1016/j.ejmg.2018.11.026. Epub 2018 Nov 23. Eur J Med Genet. 2019. PMID: 30476627
The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes.
Monies D, Abouelhoda M, AlSayed M, Alhassnan Z, Alotaibi M, Kayyali H, Al-Owain M, Shah A, Rahbeeni Z, Al-Muhaizea MA, Alzaidan HI, Cupler E, Bohlega S, Faqeih E, Faden M, Alyounes B, Jaroudi D, Goljan E, Elbardisy H, Akilan A, Albar R, Aldhalaan H, Gulab S, Chedrawi A, Al Saud BK, Kurdi W, Makhseed N, Alqasim T, El Khashab HY, Al-Mousa H, Alhashem A, Kanaan I, Algoufi T, Alsaleem K, Basha TA, Al-Murshedi F, Khan S, Al-Kindy A, Alnemer M, Al-Hajjar S, Alyamani S, Aldhekri H, Al-Mehaidib A, Arnaout R, Dabbagh O, Shagrani M, Broering D, Tulbah M, Alqassmi A, Almugbel M, AlQuaiz M, Alsaman A, Al-Thihli K, Sulaiman RA, Al-Dekhail W, Alsaegh A, Bashiri FA, Qari A, Alhomadi S, Alkuraya H, Alsebayel M, Hamad MH, Szonyi L, Abaalkhail F, Al-Mayouf SM, Almojalli H, Alqadi KS, Elsiesy H, Shuaib TM, Seidahmed MZ, Abosoudah I, Akleh H, AlGhonaium A, Alkharfy TM, Al Mutairi F, Eyaid W, Alshanbary A, Sheikh FR, Alsohaibani FI, Alsonbul A, Al Tala S, Balkhy S, Bassiouni R, Alenizi AS, Hussein MH, Hassan S, Khalil M, Tabarki B, Alshahwan S, Oshi A, Sabr Y, Alsaadoun S, Salih MA, Mohamed S, Sultana H, Tamim A, El-Haj M, Alshahrani S, Bubshait DK, Alfadhel M, Faquih T, El-Kalioby M, Subhani S, Shah … See abstract for full author list ➔ Monies D, et al. Hum Genet. 2017 Aug;136(8):921-939. doi: 10.1007/s00439-017-1821-8. Epub 2017 Jun 9. Hum Genet. 2017. PMID: 28600779 Free PMC article.
First International Conference on RASopathies and Neurofibromatoses in Asia: Identification and advances of new therapeutics.
Rauen KA, Alsaegh A, Ben-Shachar S, Berman Y, Blakeley J, Cordeiro I, Elgersma Y, Evans DG, Fisher MJ, Frayling IM, George J, Huson SM, Kerr B, Khire U, Korf B, Legius E, Messiaen L, van Minkelen R, Nampoothiri S, Ngeow J, Parada LF, Phadke S, Pillai A, Plotkin SR, Puri R, Raji A, Ramesh V, Ratner N, Shankar SP, Sharda S, Tambe A, Vikkula M, Widemann BC, Wolkenstein P, Upadhyaya M. Rauen KA, et al. Am J Med Genet A. 2019 Jun;179(6):1091-1097. doi: 10.1002/ajmg.a.61125. Epub 2019 Mar 25. Am J Med Genet A. 2019. PMID: 30908877 Free PMC article.
Unexpected moves: a conformational change in MutSα enables high-affinity DNA mismatch binding.
Bruekner SR, Pieters W, Fish A, Liaci AM, Scheffers S, Rayner E, Kaldenbach D, Drost L, Dekker M, van Hees-Stuivenberg S, Delzenne-Goette E, de Konink C, Houlleberghs H, Dubbink HJ, AlSaegh A, de Wind N, Förster F, Te Riele H, Sixma TK. Bruekner SR, et al. Nucleic Acids Res. 2023 Feb 22;51(3):1173-1188. doi: 10.1093/nar/gkad015. Nucleic Acids Res. 2023. PMID: 36715327 Free PMC article.
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