Ahmed K. Saad

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202020212022202320241 4 6 17 24

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Jennifer PoseyBaylor College of MedicineVerified email at bcm.edu
James LupskiBaylor College of MedicineVerified email at bcm.edu
Davut PehlivanBaylor College of Medicine - Texas Children's HospitalVerified email at texaschildrens.org
Dana Marafi, MD MScAssistant Professor- Kuwait UniversityVerified email at ku.edu.kw
Haowei DuBaylor College of MedicineVerified email at bcm.edu
Jawid M. FatihVerified email at bcm.edu
Angad JollyBaylor College of MedicineVerified email at bcm.edu
Eman RabieAssistant Researcher, Department of Medical Molecular Genetics, National Research Centre (Cairo)Verified email at aucegypt.edu
Rabab KhairatAssistant professor, National Research CentreVerified email at nrc.sci.eg
Hasnaa ElbendaryResearcher of clinical genetics
Maha ZakiHead of clinical Genetics Department, Professor of Clinical Genetics, National Research Centre

Ahmed K. Saad

Other namesAhmed Khairy Saad, Ahmed Saad, Ahmed Khairy

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA

Verified email at nrc.sci.eg

Human Genetics Medical Genetics Molecular Genetics


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Beyond the exome: what’s next in diagnostic testing for Mendelian conditions MH Wojcik, CM Reuter, S Marwaha, M Mahmoud, MH Duyzend, ... The American Journal of Human Genetics 110 (8), 1229-1248, 2023	26	2023
Neurodevelopmental disorder in an Egyptian family with a biallelic ALKBH8 variant AK Saad, D Marafi, T Mitani, H Du, K Rafat, JM Fatih, SN Jhangiani, ... American Journal of Medical Genetics Part A 185 (4), 1288-1293, 2021	13	2021
Biallelic in-frame deletion in TRAPPC4 in a family with developmental delay and cerebellar atrophy AK Saad, D Marafi, T Mitani, A Jolly, H Du, HM Elbendary, SN Jhangiani, ... Brain 143 (10), e83-e83, 2020	8	2020
Abnormal profiles of cathepsin C secreted in urine of Papillon Lefevre syndrome patients S Sabry, MR Abouzaid, MI Mostafa, MS Abdel-Hamid, AK Saad, ... European Journal of Medical Genetics 65 (10), 104605, 2022	2	2022
Biallelic missense variants in COG3 cause a congenital disorder of glycosylation with impairment of retrograde vesicular trafficking R Duan, D Marafi, ZJ Xia, BG Ng, R Maroofian, FT Sumya, AK Saad, H Du, ... Journal of inherited metabolic disease 46 (6), 1195-1205, 2023	1	2023
Novel LSS variants in alopecia and intellectual disability syndrome: New case report and clinical spectrum of LSS ‐related rare disease traits HM Elbendary, D Marafi, AK Saad, R Elhossini, R Duan, K Rafat, ... Clinical Genetics 2023, 1- 6, 2023	1	2023
Broadening the clinical spectrum of ALGS: an Egyptian cohort with five novel mutations in JAG1 gene R Khairat, H El-Karaksy, HT El-Bassyouni, AK Saad, E Rabie, K Hamed, ... Egyptian Journal of Medical Human Genetics 23 (1), 28, 2022	1	2022
Evaluating the association of biallelic OGDHL variants with significant phenotypic heterogeneity SJ Lin, B Vona, T Lau, K Huang, MS Zaki, HS Aldeen, EG Karimiani, ... Genome Medicine 15 (1), 102, 2023		2023
A compound heterozygous Egyptian patient with a mild form of Papillion LeFevre syndrome NEB Ahmed, AKT Saad, H Soliman, MR Abouzaid, MI Mostafa EUROPEAN JOURNAL OF HUMAN GENETICS 27, 1827-1827, 2019		2019

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