Department of Genetics & Genomics

Research output

Research output per year 2019 2020 2022 2023 2023

• 112 Citations
• 6 h-index
• 21 Article
• 3 Review article

Research output per year

Research output per year

Search results

• 2023

  Case report: Birk–Landau–Perez syndrome linked to the SLC30A9 gene—identification of additional cases and expansion of the phenotypic spectrum

  Kizhakkedath, P., AlDhaheri, W., Baydoun, I., Tabouni, M., John, A., Almansoori, T. M., Al-Turki, S., Al-Jasmi, F. & Alblooshi, H., 2023, In: Frontiers in Genetics. 14, 1219514.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Hearing Loss 100%
  • zinc-binding protein 76%
  • Eye Abnormalities 69%
  • Failure to Thrive 66%
  • Genes 63%

• Introducing and Implementing Genetic Assessment in Cardio-Obstetrics Clinical Practice: Clinical and Genetic Workup of Patients with Cardiomyopathy

  Mansoori, G. A., Mahmeed, W. A., Wani, S., Salih, B. T., Ansari, T. E., Farook, F., Farooq, Z., Khair, H., Zaręba, K., Dhahouri, N. A., Raj, A., Foo, R. S., Ali, B. R., Jasmi, F. A. & Akawi, N., Jun 2023, In: International journal of molecular sciences. 24, 11, 9119.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Obstetrics 100%
  • pregnancy 70%
  • Cardiomyopathies 61%
  • Cardiovascular Diseases 45%
  • United Arab Emirates 30%

• Novel compound heterozygous variants (c.971delA/c.542C > T) in SLC1A4 causes spastic tetraplegia, thin corpus callosum, and progressive microcephaly: a case report and mutational analysis

  Mohamed, F. E., Ghattas, M. A., Almansoori, T. M., Tabouni, M., Baydoun, I., Kizhakkedath, P., John, A., Alblooshi, H., Shaukat, Q. & Al-Jasmi, F., 2023, In: Frontiers in Pediatrics. 11, 1183574.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Quadriplegia 100%
  • Microcephaly 98%
  • Corpus Callosum 90%
  • Siblings 74%
  • Microcephaly with spastic quadriplegia 67%
• 2022

  A Type 3 Gaucher-Like Disease Due To Saposin C Deficiency in Two Emirati Families Caused by a Novel Splice Site Variant in the PSAP Gene

  Mohamed, F. E., Ali, A., Al-Tenaiji, A., Al-Jasmi, A. & Al-Jasmi, F., Jun 2022, In: Journal of Molecular Neuroscience. 72, 6, p. 1322-1333 12 p.

  Research output: Contribution to journal › Article › peer-review

  • Gaucher-like disease 100%
  • Saposins 75%
  • Gaucher Disease 60%
  • Glucosylceramidase 48%
  • Phenotype 27%
  2 Citations (Scopus)

• Bi-allelic null variant in matrix metalloproteinase-15, causes congenital cardiac defect, cholestasis jaundice, and failure to thrive

  Abdelrahman, H. A., Akawi, N., Al-Shamsi, A. M., Ali, A., Al-Jasmi, F., John, A., Hertecant, J., Al-Gazali, L. & Ali, B. R., Apr 2022, In: Clinical Genetics. 101, 4, p. 403-410 8 p.

  Research output: Contribution to journal › Article › peer-review

  • Matrix Metalloproteinase 15 100%
  • Failure to Thrive 71%
  • Cholestasis 63%
  • Jaundice 58%
  • Phenotype 33%
  2 Citations (Scopus)

• Case Report: Reinterpretation and Reclassification of ARSB:p.Arg159Cys Variant Identified in an Emirati Patient With Hearing Loss Caused by a Pathogenic Variant in the CDH23 Gene

  Al Dhahouri, N., Ali, A., Hertecant, J. & Al-Jasmi, F., Feb 3 2022, In: Frontiers in Pediatrics. 9, 803732.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Mucopolysaccharidosis VI 100%
  • Hearing Loss 59%
  • N-Acetylgalactosamine-4-Sulfatase 25%
  • Genes 25%
  • Glycosaminoglycans 24%

• Etoricoxib as a treatment of choice for patients with SLCO2A1 mutation exhibiting autosomal recessive primary hypertrophic osteoarthropathy: A case report

  Albawa'neh, A., Al Mansoori, M. G., Diab, S., Al Jasmi, F. & Akawi, N., Dec 13 2022, In: Frontiers in Genetics. 13, 1053999.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Primary Hypertrophic Osteoarthropathy 100%
  • Etoricoxib 94%
  • Mutation 33%
  • Anti-Inflammatory Agents 28%
  • Risedronic Acid 28%

• Liver Disease and Risk of Hepatocellular Carcinoma in Children With Mutations in TALDO1

  University of Washington Center for Mendelian Genomics, Mar 2022, In: Hepatology Communications. 6, 3, p. 473-479 7 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Transaldolase 100%
  • Liver Diseases 47%
  • Hepatocellular Carcinoma 45%
  • Mutation 31%
  • Child 24%
  4 Citations (Scopus)
• 2021

  Characterization of etfdh and phgdh mutations in a patient with mild glutaric aciduria type ii and serine deficiency

  Ali, A., Dhahouri, N. A., Almesmari, F. S. A., Fathalla, W. M. & Jasmi, F. A., May 2021, In: Genes. 12, 5, 703.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Multiple Acyl Coenzyme A Dehydrogenase Deficiency 100%
  • Serine 56%
  • Mutation 32%
  • Missense Mutation 19%
  • Phosphoglycerate Dehydrogenase Deficiency 19%
  4 Citations (Scopus)

• Clinical, biochemical, and genetic heterogeneity in glutaric aciduria type ii patients

  Ali, A., Almesmari, F. S. A., Dhahouri, N. A., Saleh Ali, A. M., Aldhanhani, M. A. A. M. A., Vijayan, R., Al Tenaiji, A., Al Shamsi, A., Hertecant, J. & Jasmi, F. A., Sept 2021, In: Genes. 12, 9, 1334.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • electron-transferring-flavoprotein dehydrogenase 100%
  • Genetic Heterogeneity 84%
  • Molecular Biology 58%
  • Multiple Acyl Coenzyme A Dehydrogenase Deficiency 52%
  • Acidosis 21%
  1 Citation (Scopus)

• Spectrum of neuro-genetic disorders in the United Arab Emirates national population

  Saleh, S., Beyyumi, E., Al Kaabi, A., Hertecant, J., Barakat, D., AlDhaheri, N., Al-Gazali, L. & Al Shamsi, A., Nov 2021, In: Clinical Genetics. 100, 5, p. 573-600 28 p.

  Research output: Contribution to journal › Article › peer-review

  • United Arab Emirates 100%
  • Inborn Genetic Diseases 64%
  • Population 27%
  • Mutation 14%
  • Inborn Errors Metabolism 9%
  3 Citations (Scopus)
• 2020

  A Novel Homozygous Missense Variant in the NAGA Gene with Extreme Intrafamilial Phenotypic Heterogeneity

  Mohamed, F. E., Al Sorkhy, M., Ghattas, M. A., Al-Zaabi, N., Al-Shamsi, A., Almansoori, T. M., Al-Gazali, L., Al-Dirbashi, O. Y., Al-Jasmi, F. & Ali, B. R., Jan 1 2020, In: Journal of Molecular Neuroscience. 70, 1, p. 45-55 11 p.

  Research output: Contribution to journal › Article › peer-review

  • Type I Schindler Disease 100%
  • Neurologic Manifestations 25%
  • Virulence 21%
  • Genes 19%
  • Microcephaly 15%
  1 Citation (Scopus)

• Endothelial Dysfunction and the Effect of Arginine and Citrulline Supplementation in Children and Adolescents With Mitochondrial Diseases

  Al Jasmi, F., Al Zaabi, N., Al-Thihli, K., Al Teneiji, A. M., Hertecant, J. & El-Hattab, A. W., 2020, In: Journal of Central Nervous System Disease. 12

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Citrulline 100%
  • Mitochondrial Diseases 96%
  • Arginine 71%
  • Nitric Oxide 62%
  • Child 33%
  8 Citations (Scopus)

• Genomic landscape of the mitochondrial genome in the united arab emirates native population

  Aljasmi, F. A., Vijayan, R., Sudalaimuthuasari, N., Souid, A. K., Karuvantevida, N., Almaskari, R., Kader, H. M. A., Kundu, B., Hazzouri, K. M. & Amiri, K. M. A., Aug 2020, In: Genes. 11, 8, p. 1-18 18 p., 876.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • United Arab Emirates 100%
  • Mitochondrial Genome 87%
  • Mitochondrial DNA 27%
  • Population 27%
  • Gene Flow 12%
  7 Citations (Scopus)

• KIAA1217: A novel candidate gene associated with isolated and syndromic vertebral malformations

  Al Dhaheri, N., Wu, N., Zhao, S., Wu, Z., Blank, R. D., Zhang, J., Raggio, C., Halanski, M., Shen, J., Noonan, K., Qiu, G., Nemeth, B., Sund, S., Dunwoodie, S. L., Chapman, G., Glurich, I., Steiner, R. D., Wohler, E., Martin, R., Sobreira, N. L., & 1 othersGiampietro, P. F., Jul 1 2020, In: American Journal of Medical Genetics, Part A. 182, 7, p. 1664-1672 9 p.

  Research output: Contribution to journal › Article › peer-review

  • Genetic Databases 100%
  • Exome 91%
  • Scoliosis 82%
  • Genome-Wide Association Study 79%
  • Genetic Variation 73%
  10 Citations (Scopus)

• Stratified analyses of genome wide association study data reveal haplotypes for a candidate gene on chromosome 2 (KIAA1211L) is associated with opioid use in patients of Arabian descent

  Alblooshi, H., Al Safar, H., El Kashef, A., Al Ghaferi, H., Shawky, M., Hulse, G. K. & Tay, G. K., Jan 31 2020, In: BMC Psychiatry. 20, 1, 41.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Chromosomes, Human, Pair 2 100%
  • Genome-Wide Association Study 79%
  • Haplotypes 71%
  • Opioid Analgesics 67%
  • United Arab Emirates 32%
  6 Citations (Scopus)

• Targeted metabolomic profiling of total fatty acids in human plasma by liquid chromatography-tandem mass spectrometry

  Aidaros, A. A., Sharma, C., Langhans, C. D., Okun, J. G., Hoffmann, G. F., Dasouki, M., Chakraborty, P., Aljasmi, F. & Al-Dirbashi, O. Y., Oct 2020, In: Metabolites. 10, 10, p. 1-15 15 p., 400.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Metabolomics 100%
  • Tandem Mass Spectrometry 99%
  • Liquid Chromatography 94%
  • Fatty Acids 77%
  • Fatty Acid 73%
  4 Citations (Scopus)

• The pharmacological chaperone N-n-butyl-deoxygalactonojirimycin enhances β-galactosidase processing and activity in fibroblasts of a patient with infantile GM1-gangliosidosis

  Mohamed, F. E., Al Sorkhy, M., Ghattas, M. A., Al-Gazali, L., Al-Dirbashi, O., Al-Jasmi, F. & Ali, B. R., May 1 2020, In: Human Genetics. 139, 5, p. 657-673 17 p.

  Research output: Contribution to journal › Article › peer-review

  • GM1 Gangliosidosis 100%
  • Galactosidases 95%
  • Lysosomes 64%
  • Fibroblasts 47%
  • Pharmacology 42%
  3 Citations (Scopus)
• 2019

  Assessment of methylcitrate and methylcitrate to citrate ratio in dried blood spots as biomarkers for inborn errors of propionate metabolism

  Al-Dirbashi, O. Y., Alfadhel, M., Al-Thihli, K., Al Dhahouri, N., Langhans, C. D., Al Hammadi, Z., Al-Shamsi, A., Hertecant, J., Okun, J. G., Hoffmann, G. F. & Al-Jasmi, F., Dec 1 2019, In: Scientific reports. 9, 1, 12366.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Propionates 100%
  • Inborn Errors Metabolism 99%
  • Citric Acid 83%
  • Propionic Acidemia 54%
  • Biomarkers 50%
  17 Citations (Scopus)

• Biallelic variants in COX4I1 associated with a novel phenotype resembling Leigh syndrome with developmental regression, intellectual disability, and seizures

  Pillai, N. R., AlDhaheri, N. S., Ghosh, R., Lim, J., Streff, H., Nayak, A., Graham, B. H., Hanchard, N. A., Elsea, S. H. & Scaglia, F., Oct 1 2019, In: American Journal of Medical Genetics, Part A. 179, 10, p. 2138-2143 6 p.

  Research output: Contribution to journal › Article › peer-review

  • Leigh Disease 100%
  • Electron Transport Complex IV 78%
  • Intellectual Disability 62%
  • Seizures 51%
  • Electron Transport 48%
  12 Citations (Scopus)

• Improved clinical outcome following liver transplant in patients with ethylmalonic encephalopathy

  Tam, A., AlDhaheri, N. S., Mysore, K., Tessier, M. E., Goss, J., Fernandez, L. A., D'Alessandro, A. M., Schwoerer, J. S., Rice, G. M., Elsea, S. H. & Scaglia, F., Jun 2019, In: American Journal of Medical Genetics, Part A. 179, 6, p. 1015-1019 5 p.

  Research output: Contribution to journal › Article › peer-review

  • Ethylmalonic encephalopathy 100%
  • sulfur dioxygenase 54%
  • Liver Transplantation 46%
  • Hydrogen Sulfide 32%
  • 2-methylbutyrylglycine 28%
  28 Citations (Scopus)