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Page 1
Mutations in DONSON disrupt replication fork stability and cause microcephalic dwarfism.
Reynolds JJ, Bicknell LS, Carroll P, Higgs MR, Shaheen R, Murray JE, Papadopoulos DK, Leitch A, Murina O, Tarnauskaitė Ž, Wessel SR, Zlatanou A, Vernet A, von Kriegsheim A, Mottram RM, Logan CV, Bye H, Li Y, Brean A, Maddirevula S, Challis RC, Skouloudaki K, Almoisheer A, Alsaif HS, Amar A, Prescott NJ, Bober MB, Duker A, Faqeih E, Seidahmed MZ, Al Tala S, Alswaid A, Ahmed S, Al-Aama JY, Altmüller J, Al Balwi M, Brady AF, Chessa L, Cox H, Fischetto R, Heller R, Henderson BD, Hobson E, Nürnberg P, Percin EF, Peron A, Spaccini L, Quigley AJ, Thakur S, Wise CA, Yoon G, Alnemer M, Tomancak P, Yigit G, Taylor AM, Reijns MA, Simpson MA, Cortez D, Alkuraya FS, Mathew CG, Jackson AP, Stewart GS. Reynolds JJ, et al. Among authors: alswaid a. Nat Genet. 2017 Apr;49(4):537-549. doi: 10.1038/ng.3790. Epub 2017 Feb 13. Nat Genet. 2017. PMID: 28191891 Free PMC article.
Homozygosity for a missense mutation in SERPINH1, which encodes the collagen chaperone protein HSP47, results in severe recessive osteogenesis imperfecta.
Christiansen HE, Schwarze U, Pyott SM, AlSwaid A, Al Balwi M, Alrasheed S, Pepin MG, Weis MA, Eyre DR, Byers PH. Christiansen HE, et al. Among authors: alswaid a. Am J Hum Genet. 2010 Mar 12;86(3):389-98. doi: 10.1016/j.ajhg.2010.01.034. Epub 2010 Feb 25. Am J Hum Genet. 2010. PMID: 20188343 Free PMC article.
Tetrasomy 18p: case report and review of literature.
Bawazeer S, Alshalan M, Alkhaldi A, AlAtwi N, AlBalwi M, Alswaid A, Alfadhel M. Bawazeer S, et al. Among authors: alswaid a. Appl Clin Genet. 2018 Feb 8;11:9-14. doi: 10.2147/TACG.S153469. eCollection 2018. Appl Clin Genet. 2018. PMID: 29467581 Free PMC article.
The many faces of peroxisomal disorders: Lessons from a large Arab cohort.
Alshenaifi J, Ewida N, Anazi S, Shamseldin HE, Patel N, Maddirevula S, Al-Sheddi T, Alomar R, Alobeid E, Ibrahim N, Hashem M, Abdulwahab F, Jacob M, Alhashem A, Alzaidan HI, Seidahmed MZ, Alhashemi N, Rawashdeh R, Eyaid W, Al-Hassnan ZN, Rahbeeni Z, Alswaid A, Hadid A, Qari A, Mohammed DA, El Khashab HY, Alfadhel M, Abanemai M, Sunbul R, Al Tala S, Alkhalifi S, Alkharfi T, Abouelhoda M, Monies D, Al Tassan N, AlDubayan SH, Kurdi W, Al-Owain M, Dasouki MJ, Kentab AY, Atyani S, Makhseed N, Faqeih E, Shaheen R, Alkuraya FS. Alshenaifi J, et al. Among authors: alswaid a. Clin Genet. 2019 Feb;95(2):310-319. doi: 10.1111/cge.13481. Epub 2018 Dec 18. Clin Genet. 2019. PMID: 30561787
Combining exome/genome sequencing with data repository analysis reveals novel gene-disease associations for a wide range of genetic disorders.
Bertoli-Avella AM, Kandaswamy KK, Khan S, Ordonez-Herrera N, Tripolszki K, Beetz C, Rocha ME, Urzi A, Hotakainen R, Leubauer A, Al-Ali R, Karageorgou V, Moldovan O, Dias P, Alhashem A, Tabarki B, Albalwi MA, Alswaid AF, Al-Hassnan ZN, Alghamdi MA, Hadipour Z, Hadipour F, Al Hashmi N, Al-Gazali L, Cheema H, Zaki MS, Hüning I, Alfares A, Eyaid W, Al Mutairi F, Alfadhel M, Alkuraya FS, Al-Sannaa NA, AlShamsi AM, Ameziane N, Rolfs A, Bauer P. Bertoli-Avella AM, et al. Among authors: alswaid af. Genet Med. 2021 Aug;23(8):1551-1568. doi: 10.1038/s41436-021-01159-0. Epub 2021 Apr 19. Genet Med. 2021. PMID: 33875846 Free PMC article.
CIROZ is dispensable in ancestral vertebrates but essential for left-right patterning in humans.
Szenker-Ravi E, Ott T, Yusof A, Chopra M, Khatoo M, Pak B, Xuan Goh W, Beckers A, Brady AF, Ewans LJ, Djaziri N, Almontashiri NAM, Alghamdi MA, Alharby E, Dasouki M, Romo L, Tan WH, Maddirevula S, Alkuraya FS, Giordano JL, Alkelai A, Wapner RJ, Stals K, Alfadhel M, Alswaid AF, Bogusch S, Schafer-Kosulya A, Vogel S, Vick P, Schweickert A, Wakeling M, Moreau de Bellaing A, Alshamsi AM, Sanlaville D, Mbarek H, Saad C, Ellard S, Eisenhaber F, Tripolszki K, Beetz C, Bauer P, Gossler A, Eisenhaber B, Blum M, Bouvagnet P, Bertoli-Avella A, Amiel J, Gordon CT, Reversade B. Szenker-Ravi E, et al. Among authors: alswaid af. Am J Hum Genet. 2024 Dec 27:S0002-9297(24)00448-8. doi: 10.1016/j.ajhg.2024.12.006. Online ahead of print. Am J Hum Genet. 2024. PMID: 39753129
52 results