A. Abdulkareem

发表

Report of Hermansky–Pudlak Syndrome in Two Families with Novel Variants in HPS3 and HPS4 Genes

M. Owais, F. Bibi, M. Jelani, 2023, Genes.

Whole Exome Sequencing Reveals a Novel Homozygous Variant in the Ganglioside Biosynthetic Enzyme, ST3GAL5 Gene in a Saudi Family Causing Salt and Pepper Syndrome

B. Shirah, M. Naseer, A. Abdulkareem, 2023, Genes.

Next generation sequencing reveals novel homozygous frameshift in PUS7 and splice acceptor variants in AASS gene leading to intellectual disability, developmental delay, dysmorphic feature and microcephaly

A. A. Abdulkareem, M. I. Naseer, A. Chaudhary, 2020, Saudi journal of biological sciences.

A novel homozygous nonsense mutation in CCDC88A gene cause PEHO-like syndrome in consanguineous Saudi family

Sajjad Karim, M. Rasool, M. Al-Qahtani, 2018, Neurological Sciences.

A novel homozygous stop gain mutation in SLC12A3 gene cause Gitelman syndrome in Saudi consanguineous family

Peter Natesan Pushparaj, M. Rasool, M. Al-Qahtani, 2017 .

A very rare form of autosomal dominant progressive myoclonus epilepsy caused by a novel variant in the PRICKLE1 gene

H. Algahtani, B. Shirah, M. Al-Qahtani, 2019, Seizure.

Ataxia with ocular apraxia type 2 not responding to 4-aminopyridine: A rare mutation in the SETX gene in a Saudi patient.

H. Algahtani, B. Shirah, M. Al-Qahtani, 2018, Intractable & rare diseases research.

Identification of Novel Gene Signatures using Next-Generation Sequencing Data from COVID-19 Infection Models: Focus on Neuro-COVID and Potential Therapeutics

Peter Natesan Pushparaj, M. Naseer, A. Abdulkareem, 2021, Frontiers in Pharmacology.

A Novel Homozygous Nonsense Variant in the DYM Underlies Dyggve-Melchior-Clausen Syndrome in Large Consanguineous Family

N. Bibi, W. Ahmad, M. Jelani, 2023, Genes.

Wiedemann-Steiner syndrome with a novel compound heterozygous mutation in KMT2A gene having intellectual disability and microcephaly in a consanguineous family

M. Rasool, M. Al-Qahtani, F. Bibi, 2018 .

A novel homozygous mutation in SZT2 gene in Saudi family with developmental delay, macrocephaly and epilepsy

M. Abu-Elmagd, M. Al-Qahtani, A. Chaudhary, 2018, Genes & Genomics.

Novel Variants in MPV17, PRX, GJB1, and SACS Cause Charcot–Marie–Tooth and Spastic Ataxia of Charlevoix–Saguenay Type Diseases

F. Bibi, Jingyun Yang, Chuntao Zhao, 2023, Genes.

Novel Missense Variant in Heterozygous State in the BRPF1 Gene Leading to Intellectual Developmental Disorder With Dysmorphic Facies and Ptosis

Peter Natesan Pushparaj, S. Arold, A. A. Abdulkareem, 2020, Frontiers in Genetics.

A novel mutation in CACNA1A gene in a Saudi female with episodic ataxia type 2 with no response to acetazolamide or 4-aminopyridine.

H. Algahtani, B. Shirah, M. Al-Qahtani, 2019, Intractable & rare diseases research.

Next-Generation Sequencing Reveals Novel Homozygous Missense Variant c.934T > C in POLR1C Gene Causing Leukodystrophy and Hypomyelinating Disease

Peter Natesan Pushparaj, A. A. Abdulkareem, M. I. Naseer, 2022, Frontiers in Pediatrics.

Whole-Exome Sequencing Reveals a Missense Variant c.1612C>T (p.Arg538Cys) in the BTD Gene Leading to Neuromyelitis Optica Spectrum Disorder in Saudi Families

Peter Natesan Pushparaj, A. A. Abdulkareem, M. I. Naseer, 2022, Frontiers in Pediatrics.

A novel variant c.3706C>T p.(Avg 1236Cys) in the ABCA7 gene in a Saudi patient with susceptibility to Alzheimer's disease 9.

H. Algahtani, B. Shirah, M. Al-Qahtani, 2020, Intractable & rare diseases research.

Combinatorial Therapeutic Potential of Stem Cells and Benzimidazol Derivatives for the Reduction of Liver Fibrosis

F. Bibi, H. Rafiq, S. G. Afridi, 2023, Pharmaceuticals.

Autosomal Recessive Spastic Paraplegia Type 78 Associated with a Homozygous Variant in the ATP13A2 Gene

H. Algahtani, B. Shirah, A. A. Abdulkareem, 2022, Movement disorders clinical practice.

Whole Exome Sequencing Identifies Three Novel Mutations in the ASPM Gene From Saudi Families Leading to Primary Microcephaly

Sameera Sogaty, A. Chaudhary, O. Muthaffar, 2021, Frontiers in Pediatrics.

A Novel Intronic Variant in SLC2A1 Gene in a Saudi Patient with Myoclonic Epilepsy

H. Algahtani, B. Shirah, M. Al-Qahtani, 2020, Journal of epilepsy research.

Whole-Exome Sequencing Identifies Novel SCN1A and CACNB4 Genes Mutations in the Cohort of Saudi Patients With Epilepsy

Peter Natesan Pushparaj, M. Rasool, H. Algahtani, 2022, Frontiers in Pediatrics.

Exome Analysis Identified Novel Homozygous Splice Site Donor Alteration in NT5C2 Gene in a Saudi Family Associated With Spastic Diplegia Cerebral Palsy, Developmental Delay, and Intellectual Disability

F. Bibi, A. Chaudhary, P. Pushparaj, 2020, Frontiers in Genetics.

Clinical whole exome sequencing revealed de novo heterozygous stop-gain and missense variants in the STXBP1 gene associated with epilepsy in Saudi families

Peter Natesan Pushparaj, M. Rasool, H. Algahtani, 2022, Saudi journal of biological sciences.

A novel homozygous mutation in SZT2 gene in Saudi family with developmental delay, macrocephaly and epilepsy

M. Abu-Elmagd, M. Al-Qahtani, A. Chaudhary, 2018, Genes & Genomics.

Phenotypic Classification of Eye Colour and Developmental Validation of the Irisplex System on Population Living in Malakand Division, Pakistan

B. Shirah, F. Bibi, M. Jelani, 2023, Biomedicines.

Chronic progressive external ophthalmoplegia in a Saudi patient with a mutation in the POLG gene successfully managed with bilateral frontalis sling

H. Algahtani, B. Shirah, M. Al-Qahtani, 2021, Journal of Genetic Medicine.

Two novel homozygous variants of ATP6V0A2 and ALDH18A1 lead to autosomal recessive cutis laxa type 2 and 3 in two Pakistani families

F. Bibi, M. Jelani, Gauhar Rehman, 2023, The journal of gene medicine.

Whole exome sequencing identified five novel variants in CNTN2, CARS2, ARSA, and CLCN4 leading to epilepsy in consanguineous families

M. Owais, N. Tariq, F. Bibi, 2023, Frontiers in Genetics.

Novel compound heterozygous mutations in WDR62 gene leading to developmental delay and Primary Microcephaly in Saudi Family

M. Rasool, M. Al-Qahtani, S. K. Zaidi, 2019, Pakistan journal of medical sciences.

A novel mutation in ATM gene in a Saudi female with ataxia telangiectasia

H. Algahtani, B. Shirah, M. Al-Qahtani, 2020, The International journal of neuroscience.

A Novel Heterozygous Variant in Exon 19 of NOTCH3 in a Saudi Family with Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy.

H. Algahtani, B. Shirah, M. Al-Qahtani, 2020, Journal of stroke and cerebrovascular diseases : the official journal of National Stroke Association.

Whole Exome Sequencing Reveals Two Novel Homozygous Variants in the TRAPPC9 and PLOD3 Genes Leading to Intellectual Disability and Bone Fragility with Contractures

B. Shirah, O. Muthaffar, M. Naseer, 2023, Journal of Disability Research.

A Novel Variant in CWF19L1 Gene in a Family with Late-Onset Autosomal Recessive Cerebellar Ataxia 17

H. Algahtani, B. Shirah, M. Al-Qahtani, 2020, Neurological research.

Leber hereditary optic neuropathy presenting as bilateral visual loss and white matter disease

Peter Natesan Pushparaj, H. Algahtani, B. Shirah, 2023, Bioinformation.

Autosomal recessive cerebellar ataxia with spasticity due to a rare mutation in GBA2 gene in a large consanguineous Saudi family

H. Algahtani, B. Shirah, M. Al-Qahtani, 2019, Genes & diseases.