| Year |
Citation |
Score |
| 2023 |
Al-Kurbi AA, Aliyev E, AlSa'afin S, Aamer W, Palaniswamy S, Al-Maraghi A, Kilani H, Akil AA, Stotland MA, Fakhro KA. A Complex Intrachromosomal Rearrangement Disrupting in a Family with Popliteal Pterygium and Van der Woude Syndromes. Genes. 14. PMID 37107607 DOI: 10.3390/genes14040849 |
0.386 |
|
| 2023 |
Ahmed I, Ziab M, Da'as S, Hasan W, Jeya SP, Aliyev E, Nisar S, Bhat AA, Fakhro KA, Alshabeeb Akil AS. Network-based identification and prioritization of key transcriptional factors of diabetic kidney disease. Computational and Structural Biotechnology Journal. 21: 716-730. PMID 36659918 DOI: 10.1016/j.csbj.2022.12.054 |
0.363 |
|
| 2022 |
Kohailan M, Al-Saei O, Padmajeya S, Aamer W, Elbashir N, Al-Shabeeb Akil A, Kamboh AR, Fakhro K. A de novo start-loss in associated with mandibulofacial dysostosis with microcephaly: case report. Cold Spring Harbor Molecular Case Studies. 8. PMID 35732499 DOI: 10.1101/mcs.a006206 |
0.319 |
|
| 2022 |
Elfatih A, Da'as SI, Abdelrahman D, Mbarek H, Mohammed I, Hasan W, Fakhro KA, Estivill X, Mifsud B. Analysis of incidental findings in Qatar genome participants reveals novel functional variants in LMNA and DSP. Human Molecular Genetics. PMID 35348702 DOI: 10.1093/hmg/ddac073 |
0.34 |
|
| 2022 |
Al-Kurbi AA, Da'as SI, Aamer W, Krishnamoorthy N, Poggiolini I, Abdelrahman D, Elbashir N, Al-Shabeeb Akil A, Glass GE, Fakhro KA. A recessive variant in SIM2 in a child with complex craniofacial anomalies and global developmental delay. European Journal of Medical Genetics. 65: 104455. PMID 35182808 DOI: 10.1016/j.ejmg.2022.104455 |
0.435 |
|
| 2022 |
Selvaraj S, Rodrigues D, Krishnamoorthy N, Fakhro KA, Saraiva LR, Lemos MC. Clinical, Genetic and Functional Characterization of a Novel Missense Mutation in a Woman with X-Linked Recessive Nephrogenic Diabetes Insipidus. Journal of Personalized Medicine. 12. PMID 35055433 DOI: 10.3390/jpm12010118 |
0.402 |
|
| 2021 |
Hassan K, Robay A, Al-Maraghi A, Nimeri N, Azzam A, Al Shakaki A, Hamid E, Crystal R, Fakhro K. Novel MYO5B Mutation in Microvillous Inclusion Disease of Syrian Ancestry. Cold Spring Harbor Molecular Case Studies. PMID 34815247 DOI: 10.1101/mcs.a006103 |
0.34 |
|
| 2021 |
Merico D, Pasternak Y, Zarrei M, Higginbotham EJ, Thiruvahindrapuram B, Scott O, Willett-Pachul J, Grunebaum E, Upton J, Atkinson A, Kim VHD, Aliyev E, Fakhro K, Scherer SW, Roifman CM. Homozygous duplication identified by whole genome sequencing causes LRBA deficiency. Npj Genomic Medicine. 6: 96. PMID 34795304 DOI: 10.1038/s41525-021-00263-z |
0.345 |
|
| 2021 |
Guennoun A, Bougarn S, Khan T, Mackeh R, Rahman M, Al-Ali F, Ata M, Aamer W, Prosser D, Habib T, Chin-Smith E, Al-Darwish K, Zhang Q, Al-Shakaki A, Robay A, ... ... Fakhro K, et al. A Novel STK4 Mutation Impairs T Cell Immunity Through Dysregulation of Cytokine-Induced Adhesion and Chemotaxis Genes. Journal of Clinical Immunology. PMID 34427831 DOI: 10.1007/s10875-021-01115-2 |
0.303 |
|
| 2021 |
Pagnamenta AT, Kaiyrzhanov R, Zou Y, Da'as SI, Maroofian R, Donkervoort S, Dominik N, Lauffer M, Ferla MP, Orioli A, Giess A, Tucci A, Beetz C, Sedghi M, Ansari B, ... ... Fakhro KA, et al. An ancestral 10-bp repeat expansion in VWA1 causes recessive hereditary motor neuropathy. Brain : a Journal of Neurology. PMID 33559681 DOI: 10.1093/brain/awaa420 |
0.302 |
|
| 2020 |
Jacob A, Pasquier J, Carapito R, Auradé F, Molitor A, Froguel P, Fakhro K, Halabi N, Viot G, Bahram S, Rafii A. A de novo synonymous variant in EFTUD2 disrupts normal splicing and causes mandibulofacial dysostosis with microcephaly: case report. Bmc Medical Genetics. 21: 182. PMID 32943010 DOI: 10.1186/S12881-020-01121-Y |
0.421 |
|
| 2019 |
Fakhro KA, Robay A, Rodrigues-Flores JL, Mezey JG, Al-Shakaki AA, Chidiac O, Stadler D, Malek JA, Imam AB, Sheikh A, Azzam A, Janahi I, Khanjar I, Osman K, Ziki MA, et al. Point of Care Exome Sequencing Reveals Allelic and Phenotypic Heterogeneity Underlying Mendelian disease in Qatar. Human Molecular Genetics. PMID 31625567 DOI: 10.1093/Hmg/Ddz134 |
0.359 |
|
| 2018 |
Fakhro KA, Elbardisi H, Arafa M, Robay A, Rodriguez-Flores JL, Al-Shakaki A, Syed N, Mezey JG, Abi Khalil C, Malek JA, Al-Ansari A, Al Said S, Crystal RG. Point-of-care whole-exome sequencing of idiopathic male infertility. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 29790874 DOI: 10.1038/Gim.2018.10 |
0.394 |
|
| 2018 |
Mackeh R, Marr AK, Dargham SR, Syed N, Fakhro KA, Kino T. Single-Nucleotide Variations of the Human Nuclear Hormone Receptor Genes in 60,000 Individuals. Journal of the Endocrine Society. 2: 77-90. PMID 29379896 DOI: 10.1210/js.2017-00406 |
0.314 |
|
| 2013 |
Zaidi S, Choi M, Wakimoto H, Ma L, Jiang J, Overton JD, Romano-Adesman A, Bjornson RD, Breitbart RE, Brown KK, Carriero NJ, Cheung YH, Deanfield J, DePalma S, Fakhro KA, et al. De novo mutations in histone-modifying genes in congenital heart disease. Nature. 498: 220-3. PMID 23665959 DOI: 10.1038/Nature12141 |
0.37 |
|
| 2011 |
Fakhro KA, Choi M, Ware SM, Belmont JW, Towbin JA, Lifton RP, Khokha MK, Brueckner M. Rare copy number variations in congenital heart disease patients identify unique genes in left-right patterning. Proceedings of the National Academy of Sciences of the United States of America. 108: 2915-20. PMID 21282601 DOI: 10.1073/Pnas.1019645108 |
0.489 |
|
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