A. Chedrawi

发表

Lessons Learned from Large-Scale, First-Tier Clinical Exome Sequencing in a Highly Consanguineous Population.

F. Alkuraya, S. AlKhater, T. Algoufi, 2019, American journal of human genetics.

Tuberous Sclerosis Complex: Clinical Spectrum and Epilepsy: A Retrospective Chart Review Study

H. Aldhalaan, Sameena Khan, O. Dabbagh, 2018, Translational neuroscience.

Hematological findings associated with tubulin‐folding cofactors D‐related encephalopathy: Expanding the phenotype

N. Kaya, D. Çolak, D. Monies, 2021, Clinical genetics.

Rett Syndrome, a Neurodevelopmental Disorder, Whole-Transcriptome, and Mitochondrial Genome Multiomics Analyses Identify Novel Variations and Disease Pathways.

Olfat Al-Harazi, N. Kaya, D. Çolak, 2020, Omics : a journal of integrative biology.

Cephalosporin-induced nonconvulsive status epilepticus in a uremic child.

S. Alshahwan, A. Chedrawi, S. Gharaybeh, 2004, Pediatric neurology.

The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes

F. Alkuraya, E. Faqeih, K. Al-Thihli, 2017, Human Genetics.

Truncating mutations in YIF1B cause a progressive encephalopathy with various degrees of mixed movement disorder, microcephaly, and epilepsy

P. Bauer, S. Arold, A. Bertoli-Avella, 2020, Acta Neuropathologica.

Infantile-onset ascending hereditary spastic paraplegia with bulbar involvement due to the novel ALS2 mutation c.2761C>T.

J. Finsterer, Z. Al-Hassnan, S. Bohlega, 2014, Gene.

Novel intragenic deletion in OPHN1 in a family causing XLMR with cerebellar hypoplasia and distinctive facial appearance

N. Kaya, R. Basran, M. Al-Owain, 2011, Clinical genetics.

Subacute encephalitis in a child seropositive for alpha-3 subunit of neuronal nicotinic acetylcholine receptors antibody

M. Johnston, C. Pardo, A. Garg, 2014, Journal of Pediatric Neurology.

Loss of the Potassium Channel β‐Subunit Gene, KCNAB2, Is Associated with Epilepsy in Patients with 1p36 Deletion Syndrome

L. Shaffer, C. Kashork, Yuan-qing Wu, 2001, Epilepsia.

Profound Biotinidase Deficiency in a Child With Predominantly Spinal Cord Disease

B. Wolf, M. Faiyaz-ul-Haque, A. Chedrawi, 2008, Journal of child neurology.

Epilepsy Surgery Series: A Study of 502 Consecutive Patients from a Developing Country

J. Girvin, A. Parrent, M. Fiol, 2014, Epilepsy research and treatment.

Novel V97G ASAH1 mutation found in Farber disease patients: Unique appearance of the disease with an intermediate severity, and marked early involvement of central and peripheral nervous system

N. Kaya, D. Çolak, Z. Al-Hassnan, 2012, Brain and Development.

Acute disseminated encephalomyelitis and thrombocytopenia following Epstein-Barr virus infection.

O. Dabbagh, A. Chedrawi, Muhammad Al-Muhaizae, 2014, Journal of the College of Physicians and Surgeons--Pakistan : JCPSP.

The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes

F. Alkuraya, E. Faqeih, K. Al-Thihli, 2017, Human Genetics.

Autozygome and high throughput confirmation of disease genes candidacy

F. Alkuraya, T. Ben-Omran, M. Alfadhel, 2018, Genetics in Medicine.

A novel X‐linked disorder with developmental delay and autistic features

F. Alkuraya, N. Kaya, D. Çolak, 2012, Annals of neurology.

Visual Diagnosis

M. Al-Owain, A. Chedrawi, Maha Faden, 2009, Pediatrics In Review.

Visual diagnosis: a child who has hyperpigmented spots and a forearm deformity.

M. Al-Owain, A. Chedrawi, Maha Faden, 2009, Pediatrics in review.

Lessons Learned from Large-Scale, First-Tier Clinical Exome Sequencing in a Highly Consanguineous Population.

F. Alkuraya, S. AlKhater, T. Algoufi, 2019, American journal of human genetics.

Biallelic UBE4A loss-of-function variants cause intellectual disability and global developmental delay

Lynette R. Bower, M. Wheeler, E. Spiteri, 2021, Genetics in Medicine.

Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition

Golder N Wilson, Carol J. Saunders, J. Rosenfeld, 2022, Molecular Psychiatry.

Genome-wide gene expression profiling and mutation analysis of Saudi patients with Canavan disease

N. Kaya, D. Çolak, S. Coskun, 2008, Genetics in Medicine.

Variant late infantile neuronal ceroid lipofuscinosis (CLN6 gene) in Saudi Arabia.

Z. Al-Hassnan, A. Chedrawi, Mohammad A Al-Muhaizea, 2009, Pediatric neurology.

Central pontine myelinolysis and locked‐IN syndrome associated with tacrolimus after pediatric heart transplantation

A. Chedrawi, Dimpna C. Albert-Brotons, Z. Alhalees, 2023, Pediatric Transplantation.

Neck-tongue syndrome.

M. Fishman, A. Chedrawi, G. Miller, 2000, Pediatric neurology.

Genomic and transcriptomic analyses distinguish classic Rett and Rett-like syndrome and reveals shared altered pathways.

N. Kaya, D. Çolak, P. Ozand, 2011, Genomics.

Beyond a routine blood gas, an easily picked but missed diagnosis of chronic Encephalopathy

A. Chedrawi, Mohammad A Al-Muhaizea, Ghasan A. El-Hissi, 2020, International journal of pediatrics & adolescent medicine.