A. Al-Maawali

发表

Biomedical publications profile and trends in gulf cooperation council countries.

A. Al-Maawali, Ahmed Al Busadi, S. Al-Adawi, 2012, Sultan Qaboos University medical journal.

Uptake of prenatal genetic diagnosis and termination of pregnancy by Omani Muslim families at risk of genetic disorders: experience over a 9-year period

Z. Bruwer, A. Al-Maawali, Maryam Al Shehhi, 2022, Journal of Community Genetics.

Spectrum of paediatric lysosomal storage disorders in oman.

R. Koul, A. Al-Futaisi, A. Al-Maawali, 2012, Sultan Qaboos University medical journal.

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

S. Blaser, M. Steinlin, A. Al-Maawali, 2016, Neuroimaging clinics of North America.

Biometry of cerebellum and vermis Height : vermis Transverse : cerebellum Height of superior and middle cerebellar peduncles Tegmentovermian angle Superior cerebellar peduncle angle

S. Blaser, M. Steinlin, A. Al-Maawali, 2022 .

Deficiency of acyl‐CoA synthetase 5 is associated with a severe and treatable failure to thrive of neonatal onset

J. Füllekrug, K. Al-Thihli, U. Merle, 2020, Clinical genetics.

The expanding spectrum of neurological disorders of phosphoinositide metabolism

J. Dowling, A. Al-Maawali, J. Brill, 2019, Disease Models & Mechanisms.

Biallelic loss-of-function variants of GFRA1 cause lethal bilateral renal agenesis.

Z. Bruwer, A. Al-Maawali, K. Al-Kharusi, 2021, European journal of medical genetics.

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

A. Al-Maawali, A. Root, F. Diamond, 2014, Journal of pediatric endocrinology & metabolism : JPEM.

Diagnostic Approach to Childhood-Onset Cerebellar Atrophy

S. Blaser, A. Al-Maawali, G. Yoon, 2012, Journal of child neurology.

Hereditary Spastic Paraplegia Associated With Axonal Neuropathy: A Novel Mutation of SPG3A in a Large Family

A. Rolfs, A. Al-Maawali, G. Yoon, 2011, Journal of clinical neuromuscular disease.

Inactivation of DRG1, encoding a translation factor GTPase, causes a Recessive Neurodevelopmental Disorder

B. Venkatesh, M. Coleman, A. Bertoli-Avella, 2022, medRxiv.

Angelman Syndrome Due to a Termination Codon Mutation of the UBE3A Gene

R. Mendoza-Londono, J. Machado, L. Dupuis, 2013, Journal of child neurology.

TMEM63C mutations cause mitochondrial morphology defects and underlie hereditary spastic paraplegia

Jacob O Day, R. Maroofian, H. Houlden, 2022, Brain : a journal of neurology.

The diagnostic yield, candidate genes, and pitfalls for a genetic study of intellectual disability in 118 middle eastern families

A. Al-Asmi, Z. Bruwer, F. Zadjali, 2022, Scientific Reports.

The Genetic Spectrum of Familial Hypertriglyceridemia in Oman

F. Zadjali, A. Al-Maawali, A. Al-Mujaini, 2022, Frontiers in Genetics.

Title: Recessive PRDM13 mutations cause severe brainstem dysfunction with perinatal lethality, cerebellar hypoplasia and disrupt Purkinje cell differentiation

C. Garel, N. Boddaert, A. Laquérriere, 2022 .

HIV disease presenting as a unilateral parotid gland swelling

R. Koul, A. Al-Maawali, Mahamoud Fathalla, 2008, Indian journal of pediatrics.

De novo phosphoinositide synthesis in zebrafish is required for triad formation but not essential for myogenesis

J. Dowling, Lacramioara Fabian, A. Al-Maawali, 2020, bioRxiv.

Reanalysis of exome sequencing data of intellectual disability samples: Yields and benefits

A. Al-Futaisi, K. Al-Thihli, F. Zadjali, 2018, Clinical genetics.

Genetic Causes, Clinical Features, and Survival of Underlying Inborn Errors of Immunity in Omani Patients: a Single-Center Study

Z. Bruwer, A. Al-Maawali, S. Naseem, 2022, Journal of Clinical Immunology.

BCL10 loss-of-function novel mutation leading to atypical severe combined immunodeficiency.

A. Al-Maawali, S. Al-Tamemi, Mahmood Al-Kindi, 2022, Clinical immunology.

Mutations in PYCR2, Encoding Pyrroline-5-Carboxylate Reductase 2, Cause Microcephaly and Hypomyelination.

Michael E. Coulter, A. Barkovich, J. Stoler, 2015, American journal of human genetics.

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

D. Chitayat, S. Blaser, A. Al-Maawali, 2013, American journal of medical genetics. Part A.

Phenotypic spectrum of ALPK3‐related cardiomyopathy

K. Al-Thihli, A. Al-Maawali, M. Al-Nabhani, 2019, American journal of medical genetics. Part A.

Leucoencephalopathy with bitemporal lobe cysts in a child with developmental delay.

A. Al-Maawali, D. Sankhla, Raghad Abdwani, 2007, Sultan Qaboos University medical journal.

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

A. Al-Maawali, N. Al-Hashmi, Mohammed Mohammed, 2019, European journal of medical genetics.

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

S. Blaser, A. Schulze, E. Miller, 2014, Pediatric Radiology.

Recessive PRDM13 mutations cause fatal perinatal brainstem dysfunction with cerebellar hypoplasia and disrupt Purkinje cells differentiation.

C. Garel, N. Boddaert, J. Baptista, 2022, American journal of human genetics.

Further delineation of Temtamy syndrome of corpus callosum and ocular abnormalities

F. Alkuraya, N. Kaya, Z. Al-Hassnan, 2018, American journal of medical genetics. Part A.

Recessive, Deleterious Variants in SMG8 Expand the Role of Nonsense-Mediated Decay in Developmental Disorders in Humans.

F. Alkuraya, Hiroyuki Kuwahara, Xin Gao, 2020, American journal of human genetics.

Teratogenicity of angiotensin converting enzyme inhibitors or receptor blockers

G. Koren, A. Walfisch, A. Al-Maawali, 2011, Journal of obstetrics and gynaecology : the journal of the Institute of Obstetrics and Gynaecology.

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

A. Barkovich, J. Stoler, G. Mochida, 2016, American journal of medical genetics. Part A.

Expanding the spectrum of EEF1D neurodevelopmental disorders: Biallelic variants in the guanine exchange domain

D. Wieczorek, J. Altmüller, Yun Li, 2022, Clinical genetics.

Homozygous loss-of-function variants in FILIP1 cause autosomal recessive arthrogryposis multiplex congenita with microcephaly

S. Banka, K. Girisha, A. Shukla, 2023, Human Genetics.

Merosin-deficient congenital muscular dystrophy in an Omani boy.

R. Koul, A. Al-Futaisi, A. Al-Maawali, 2008, Neurosciences.

A homozygous loss-of-function C1S mutation is associated with Kikuchi-Fujimoto disease.

M. Cook, A. Al-Maawali, M. Al Kindi, 2023, Clinical immunology.

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

W. Halliday, B. Banwell, D. Chitayat, 2016, Neuroradiology.

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

S. Blaser, A. Al-Maawali, G. Yoon, 2014, Developmental medicine and child neurology.

THUMPD1 bi-allelic variants cause loss of tRNA acetylation and a syndromic neurodevelopmental disorder.

N. Brown, S. Ellard, M. Broly, 2022, American journal of human genetics.

Variability of non‐lethal Fowler syndrome phenotype associated with FLVCR2 variants

A. Al-Futaisi, A. Al-Maawali, H. Mirza, 2020, Clinical genetics.

Biallelic PTRHD1 Frameshift Variants Associated with Intellectual Disability, Spasticity, and Parkinsonism

F. Zadjali, A. Al-Maawali, S. Al-yahyaee, 2021, Movement Disorders Clinical Practice.

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

S. Raniga, F. Zadjali, A. Gujjar, 2018, Human mutation.

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

S. Scherer, C. Marshall, T. Paton, 2014, European Journal of Human Genetics.

Shohat type-spondyloepimetaphyseal dysplasia: Further phenotypic delineation.

A. Al-Maawali, G. Otaify, Samiya Al-Rashdi, 2022, European journal of medical genetics.

Autosomal recessive NOTCH3-related leukodystrophy in two siblings and review of the literature

A. Ganesh, A. Al-Maawali, Fatema Al-Amrani, 2023, Pediatric Neurology.

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

G. Koren, A. Walfisch, A. Al-Maawali, 2012, Canadian family physician Medecin de famille canadien.

Biallelic mutation of SUPV3L1 causes an inherited leukodystrophy-associated neurodevelopmental disorder due to aberrant mitochondrial double stranded RNA processing

R. Maroofian, D. Calame, K. Õunap, 2023, medRxiv.

Further Clinical and Molecular Delineation of Xp11.22 Deletion Syndrome: A Case Report

A. Al-Maawali, Halima A Al-Shehhi, W. Al-Maamari, 2019, Oman medical journal.

MLIP-Associated Myopathy: A Case Report and Review of the Literature.

A. Al-Maawali, G. Narayanappa, F. Al Amrani, 2023, Journal of neuromuscular diseases.