Publications

Export 4 results:
Filters: Author is Saad, Ahmed K and Keyword is Humans  [Clear All Filters]
2023
Duan R, Marafi D, Xia Z-J, Ng BG, Maroofian R, Sumya FTaher, 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. Biallelic missense variants in COG3 cause a congenital disorder of glycosylation with impairment of retrograde vesicular trafficking. J Inherit Metab Dis. 2023 ;46(6):1195-1205.
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. Novel LSS variants in alopecia and intellectual disability syndrome: New case report and clinical spectrum of LSS-related rare disease traits. Clin Genet. 2023 ;104(3):344-349.
2021
Saad AK, Marafi D, Mitani T, Du H, Rafat K, Fatih JM, Jhangiani SN, Coban-Akdemir Z, Gibbs RA, Pehlivan D, Hunter JV, Posey JE, Zaki MS, Lupski JR. Neurodevelopmental disorder in an Egyptian family with a biallelic ALKBH8 variant. Am J Med Genet A. 2021 ;185(4):1288-1293.
2020
Saad AK, Marafi D, Mitani T, Jolly A, Du H, Elbendary HM, Jhangiani SN, Akdemir ZC, Gibbs RA, Hunter JV, Carvalho CMBC, Pehlivan D, Posey JE, Zaki MS, Lupski JR. Biallelic in-frame deletion in TRAPPC4 in a family with developmental delay and cerebellar atrophy. Brain. 2020 ;143(10):e83.