Almundher Al-Maawali


  • 247 Citations
  • 8 h-Index
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  • 13 Similar Profiles
Mutation Medicine & Life Sciences
Intellectual Disability Medicine & Life Sciences
Exome Medicine & Life Sciences
Neuroimaging Medicine & Life Sciences
Leukoencephalopathies Medicine & Life Sciences
Phenotype Medicine & Life Sciences
Atrophy Medicine & Life Sciences
Genes Medicine & Life Sciences

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Research Output 2007 2018

  • 247 Citations
  • 8 h-Index
  • 25 Article
  • 2 Review article
  • 1 Comment/debate
2 Citations (Scopus)

Biallelic mutations in AP3D1 cause Hermansky-Pudlak syndrome type 10 associated with immunodeficiency and seizure disorder

Mohammed, M., Al-Hashmi, N., Al-Rashdi, S., Al-Sukaiti, N., Al-Adawi, K., AL-Riyami, M. & Al-Maawali, A., Jan 1 2018, (Accepted/In press) In : European Journal of Medical Genetics.

Research output: Contribution to journalArticle

Hermanski-Pudlak Syndrome
Blood Platelets
2 Citations (Scopus)

Further delineation of Temtamy syndrome of corpus callosum and ocular abnormalities

Alrakaf, L., Al-Owain, M. A., Busehail, M., Alotaibi, M. A., Monies, D., Aldhalaan, H. M., Alhashem, A., Al-Hassnan, Z. N., Rahbeeni, Z. A., Murshedi, F. A., Ani, N. A., Al-Maawali, A., Ibrahim, N. A., Abdulwahab, F. M., Alsagob, M., Hashem, M. O., Ramadan, W., Abouelhoda, M., Meyer, B. F., Kaya, N. & 2 others, Maddirevula, S. & Alkuraya, F. S., Mar 1 2018, In : American Journal of Medical Genetics, Part A. 176, 3, p. 715-721 7 p.

Research output: Contribution to journalArticle

Eye Abnormalities
Corpus Callosum
Intellectual Disability
Agenesis of Corpus Callosum
1 Citation (Scopus)

Homozygosity for FARSB mutation leads to Phe-tRNA synthetase-related disease of growth restriction, brain calcification, and interstitial lung disease

AL Zadjali, F., Al-Yahyaee, A., Al-Nabhani, M., Al-Mubaihsi, S., Gujjar, A., Raniga, S. & Al-Maawali, A., Oct 1 2018, In : Human Mutation. 39, 10, p. 1355-1359 5 p.

Research output: Contribution to journalArticle

Amino Acyl-tRNA Synthetases
Interstitial Lung Diseases
7 Citations (Scopus)
Intellectual Disability
Computational Biology
Genetic Databases
8 Citations (Scopus)

Novel loss-of-function variants in DIAPH1 associated with syndromic microcephaly, blindness, and early onset seizures

Al-Maawali, A., Barry, B. J., Rajab, A., El-Quessny, M., Seman, A., Coury, S. N., Barkovich, A. J., Yang, E., Walsh, C. A., Mochida, G. H. & Stoler, J. M., Feb 1 2016, In : American Journal of Medical Genetics, Part A. 170, 2, p. 435-440 6 p.

Research output: Contribution to journalArticle