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Page 1
Novel LSS variants in alopecia and intellectual disability syndrome: New case report and clinical spectrum of LSS-related rare disease traits.
Elbendary HM, Marafi D, Saad AK, Elhossini R, Duan R, Rafat K, Jhangiani SN, Gibbs RA, Pehlivan D, Calame DG, Posey JE, Lupski JR, Zaki MS. Elbendary HM, et al. Among authors: saad ak. Clin Genet. 2023 Sep;104(3):344-349. doi: 10.1111/cge.14348. Epub 2023 May 9. Clin Genet. 2023. PMID: 37157980 Free PMC article. Review.
Neurodevelopmental disorder in an Egyptian family with a biallelic ALKBH8 variant.
Saad AK, Marafi D, Mitani T, Du H, Rafat K, Fatih JM, Jhangiani SN, Coban-Akdemir Z; Baylor-Hopkins Center for Mendelian Genomics; Gibbs RA, Pehlivan D, Hunter JV, Posey JE, Zaki MS, Lupski JR. Saad AK, et al. Am J Med Genet A. 2021 Apr;185(4):1288-1293. doi: 10.1002/ajmg.a.62100. Epub 2021 Feb 5. Am J Med Genet A. 2021. PMID: 33544954 Free PMC article.
Beyond the exome: What's next in diagnostic testing for Mendelian conditions.
Wojcik MH, Reuter CM, Marwaha S, Mahmoud M, Duyzend MH, Barseghyan H, Yuan B, Boone PM, Groopman EE, Délot EC, Jain D, Sanchis-Juan A; Genomics Research to Elucidate the Genetics of Rare Diseases (GREGoR) Consortium; Starita LM, Talkowski M, Montgomery SB, Bamshad MJ, Chong JX, Wheeler MT, Berger SI, O'Donnell-Luria A, Sedlazeck FJ, Miller DE. Wojcik MH, et al. Am J Hum Genet. 2023 Aug 3;110(8):1229-1248. doi: 10.1016/j.ajhg.2023.06.009. Am J Hum Genet. 2023. PMID: 37541186 Free PMC article. Review.
Biallelic missense variants in COG3 cause a congenital disorder of glycosylation with impairment of retrograde vesicular trafficking.
Duan R, Marafi D, Xia ZJ, Ng BG, Maroofian R, Sumya FT, Saad AK, Du H, Fatih JM, Hunter JV, Elbendary HM, Baig SM, Abdullah U, Ali Z, Efthymiou S, Murphy D, Mitani T, Withers MA, Jhangiani SN, Coban-Akdemir Z, Calame DG, Pehlivan D, Gibbs RA, Posey JE, Houlden H, Lupashin VV, Zaki MS, Freeze HH, Lupski JR. Duan R, et al. Among authors: saad ak. J Inherit Metab Dis. 2023 Nov;46(6):1195-1205. doi: 10.1002/jimd.12679. Epub 2023 Oct 5. J Inherit Metab Dis. 2023. PMID: 37711075 Free PMC article.
Evaluating the association of biallelic OGDHL variants with significant phenotypic heterogeneity.
Lin SJ, Vona B, Lau T, Huang K, Zaki MS, Aldeen HS, Karimiani EG, Rocca C, Noureldeen MM, Saad AK, Petree C, Bartolomaeus T, Abou Jamra R, Zifarelli G, Gotkhindikar A, Wentzensen IM, Liao M, Cork EE, Varshney P, Hashemi N, Mohammadi MH, Rad A, Neira J, Toosi MB, Knopp C, Kurth I, Challman TD, Smith R, Abdalla A, Haaf T, Suri M, Joshi M, Chung WK, Moreno-De-Luca A, Houlden H, Maroofian R, Varshney GK. Lin SJ, et al. Among authors: saad ak. Genome Med. 2023 Nov 29;15(1):102. doi: 10.1186/s13073-023-01258-4. Genome Med. 2023. PMID: 38031187 Free PMC article.
Rest and Stress Left Atrial Dysfunction in Patients with Atrial Fibrillation.
Zagatina A, Rivadeneira Ruiz M, Ciampi Q, Wierzbowska-Drabik K, Kasprzak J, Kalinina E, Begidova I, Peteiro J, Arbucci R, Marconi S, Lowenstein J, Boshchenko A, Manganelli F, Čelutkienė J, Morrone D, Merli E, Re F, Borguezan-Daros C, Haberka M, Saad AK, Djordjevic-Dikic A, Ratanasit NC, Rigo F, Colonna P, Pretto JLCES, Mori F, D'Alfonso MG, Ostojic M, Stanetic B, Preradovic TK, Costantino F, Barbieri A, Citro R, Pitino A, Pepi M, Carerj S, Pellikka PA, Picano E; Stress Echo 2030 Study Group. Zagatina A, et al. Among authors: saad ak. J Clin Med. 2023 Sep 11;12(18):5893. doi: 10.3390/jcm12185893. J Clin Med. 2023. PMID: 37762833 Free PMC article.
Abnormal echocardiographic findings after COVID-19 infection: a multicenter registry.
Garcia-Zamora S, Picco JM, Lepori AJ, Galello MI, Saad AK, Ayón M, Monga-Aguilar N, Shehadeh I, Manganiello CF, Izaguirre C, Fallabrino LN, Clavero M, Mansur F, Ghibaudo S, Sevilla D, Cado CA, Priotti M, Liblik K, Gastaldello N, Merlo PM. Garcia-Zamora S, et al. Among authors: saad ak. Int J Cardiovasc Imaging. 2023 Jan;39(1):77-85. doi: 10.1007/s10554-022-02706-9. Epub 2022 Aug 13. Int J Cardiovasc Imaging. 2023. PMID: 36515755 Free PMC article.
27 results