Almundher Al-Maawali

Dr.

  • 274 Citations
  • 9 h-Index
20072018

Research output per year

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Research Output

  • 274 Citations
  • 9 h-Index
  • 25 Article
  • 2 Review article
  • 1 Comment/debate
2018

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

4 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

2 Citations (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

1 Citation (Scopus)
9 Citations (Scopus)
2016

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

13 Citations (Scopus)

The Pediatric Cerebellum in Inherited Neurodegenerative Disorders: A Pattern-recognition Approach

Blaser, S. I., Steinlin, M., Al-Maawali, A. & Yoon, G., Aug 1 2016, In : Neuroimaging Clinics of North America. 26, 3, p. 373-416 44 p.

Research output: Contribution to journalReview article

6 Citations (Scopus)

Validation of the finding of hypertrophy of the clava in infantile neuroaxonal dystrophy/PLA2G6 by biometric analysis

Al-Maawali, A., Yoon, G., Feigenbaum, A. S., Halliday, W. C., Clarke, J. T. R., Branson, H. M., Banwell, B. L., Chitayat, D. & Blaser, S. I., Oct 1 2016, In : Neuroradiology. 58, 10, p. 1035-1042 8 p.

Research output: Contribution to journalArticle

3 Citations (Scopus)
2015

Mutations in PYCR2, encoding pyrroline-5-carboxylate reductase 2, cause microcephaly and hypomyelination

Nakayama, T., Al-Maawali, A., El-Quessny, M., Rajab, A., Khalil, S., Stoler, J. M., Tan, W. H., Nasir, R., Schmitz-Abe, K., Hill, R. S., Partlow, J. N., Al-Saffar, M., Servattalab, S., Lacoursiere, C. M., Tambunan, D. E., Coulter, M. E., Elhosary, P. C., Gorski, G., Barkovich, A. J., Markianos, K. & 2 others, Poduri, A. & Mochida, G. H., May 7 2015, In : American Journal of Human Genetics. 96, 5, p. 709-719 11 p.

Research output: Contribution to journalArticle

26 Citations (Scopus)

Prenatal growth restriction, retinal dystrophy, diabetes insipidus and white matter disease: Expanding the spectrum of PRPS1-related disorders

Al-Maawali, A., Dupuis, L., Blaser, S., Heon, E., Tarnopolsky, M., Al-Murshedi, F., Marshall, C. R., Paton, T., Scherer, S. W., Roelofsen, J., Van Kuilenburg, A. B. P. & Mendoza-Londono, R., Mar 1 2015, In : European Journal of Human Genetics. 23, 3, p. 310-316 7 p.

Research output: Contribution to journalArticle

14 Citations (Scopus)
2014

A novel CASR mutation associated with neonatal severe hyperparathyroidism transmitted as an autosomal recessive disorder

Diaz-Thomas, A., Cannon, J., Iyer, P., Al-Maawali, A., Fazalullah, M., Diamond, F., Mueller, O. T., Root, A. W. & Alyaarubi, S., Sep 20 2014, In : Journal of Pediatric Endocrinology and Metabolism. 27, 9-10, p. 851-856 6 p.

Research output: Contribution to journalArticle

4 Citations (Scopus)

Clinical characteristics in patients with interstitial deletions of chromosome region 12q21-q22 and identification of a critical region associated with keratosis pilaris

Al-Maawali, A., Marshall, C. R., Scherer, S. W., Dupuis, L., Mendoza-Londono, R. & Stavropoulos, D. J., 2014, In : American Journal of Medical Genetics, Part A. 164, 3, p. 796-800 5 p.

Research output: Contribution to journalArticle

5 Citations (Scopus)

Prospective study of activities of daily living outcomes in children with cerebellar atrophy

Al-Maawali, A., Blaser, S., Zhao, X. Y. & Yoon, G., 2014, In : Developmental Medicine and Child Neurology. 56, 5, p. 460-467 8 p.

Research output: Contribution to journalArticle

1 Citation (Scopus)

Subcutaneous fat pads on body MRI - An early sign of congenital disorder of glycosylation PMM2-CDG (CDG1a)

Al-Maawali, A. A., Miller, E., Schulze, A., Yoon, G. & Blaser, S. I., Feb 2014, In : Pediatric Radiology. 44, 2, p. 222-225 4 p.

Research output: Contribution to journalArticle

4 Citations (Scopus)
2013

Angelman syndrome due to a termination codon mutation of the UBE3A gene

Al-Maawali, A., MacHado, J., Fang, P., Dupuis, L., Faghfoury, H. & Mendoza-Londono, R., Mar 2013, In : Journal of Child Neurology. 28, 3, p. 392-395 4 p.

Research output: Contribution to journalArticle

3 Citations (Scopus)

Complex II deficiency-A case report and review of the literature

Jain-Ghai, S., Cameron, J. M., Al Maawali, A., Blaser, S., Mackay, N., Robinson, B. & Raiman, J., Feb 2013, In : American Journal of Medical Genetics, Part A. 161, 2, p. 285-294 10 p.

Research output: Contribution to journalArticle

41 Citations (Scopus)

XY sex reversal, pontocerebellar hypoplasia and intellectual disability: Confirmation of a new syndrome

Siriwardena, K., Al-Maawali, A., Guerin, A., Blaser, S. & Chitayat, D., Jul 2013, In : American Journal of Medical Genetics, Part A. 161, 7, p. 1714-1717 4 p.

Research output: Contribution to journalArticle

4 Citations (Scopus)
2012

Biomedical publications profile and trends in gulf cooperation council countries

Al-Maawali, A., Al Busadi, A. & Al-Adawi, S., Feb 2012, In : Sultan Qaboos University Medical Journal. 12, 1, p. 592-598 7 p.

Research output: Contribution to journalArticle

15 Citations (Scopus)

Diagnostic approach to childhood-onset cerebellar atrophy: A 10-year retrospective study of 300 patients

Al-Maawali, A., Blaser, S. & Yoon, G., Sep 2012, In : Journal of Child Neurology. 27, 9, p. 1121-1132 12 p.

Research output: Contribution to journalArticle

32 Citations (Scopus)
13 Citations (Scopus)

Spectrum of paediatric lysosomal storage disorders in Oman

Al-Maawali, A. A., Joshi, S. N., Koul, R. L., Al-Maawali, A. A., Al-Sedari, H. S., Al-Amri, B. M. & Al-Futaisi, A. M., 2012, In : Sultan Qaboos University Medical Journal. 12, 3, p. 295-299 5 p.

Research output: Contribution to journalArticle

6 Citations (Scopus)

Taking angiotensin-converting enzyme inhibitors during pregnancy: Is it safe?

Al-Maawali, A., Walfisch, A. & Koren, G., Jan 2012, In : Canadian Family Physician. 58, 1, p. 49-51 3 p.

Research output: Contribution to journalArticle

9 Citations (Scopus)
2011

Hereditary spastic paraplegia associated with axonal neuropathy: A novel mutation of SPG3A in a large family

Al-Maawali, A., Rolfs, A., Klingenhaeger, M. & Yoon, G., Mar 2011, In : Journal of Clinical Neuromuscular Disease. 12, 3, p. 143-146 4 p.

Research output: Contribution to journalArticle

9 Citations (Scopus)

Teratogenicity of angiotensin converting enzyme inhibitors or receptor blockers

Walfisch, A., Al-Maawali, A., Moretti, M. E., Nickel, C. & Koren, G., Aug 2011, In : Journal of Obstetrics and Gynaecology. 31, 6, p. 465-472 8 p.

Research output: Contribution to journalReview article

38 Citations (Scopus)
2008

An infant with cytomegalovirus-induced subacute thyroiditis

Al Maawali, A., Al Yaarubi, S. & Al Futaisi, A., Feb 2008, In : Journal of Pediatric Endocrinology and Metabolism. 21, 2, p. 191-193 3 p.

Research output: Contribution to journalArticle

5 Citations (Scopus)

HIV disease presenting as a unilateral parotid gland swelling

Al-Maawali, A. A., Chacko, A. P., Javad, H., Fathalla, M., Shenoy, A. & Koul, R., Oct 2008, In : Indian Journal of Pediatrics. 75, 10, p. 1087-1088 2 p.

Research output: Contribution to journalArticle

7 Citations (Scopus)

Merosin-deficient congenital muscular dystrophy in an Omani boy

Al-Futaisi, A., Almawali, A., Abdwani, R., Rao, V. T., Javad, H. & Koul, R., Jul 2008, In : Neurosciences. 13, 3, p. 305-307 3 p.

Research output: Contribution to journalArticle

2007

Leucoencephalopathy with bitemporal lobe cysts in a child with developmental delay

Al-Maawali, A., Al-Futasi, A., Abdwani, R. & Sankhla, D., Aug 1 2007, In : Sultan Qaboos University Medical Journal. 7, 2, p. 161-163 3 p.

Research output: Contribution to journalComment/debate