Saud Abdullah Alsahli, M.D.
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Saud Abdullah Alsahli, M.D.
Categorical Child Neurology
Positions
- Categorical Child Neurology
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Pediatric Neurology and Developmental Neuroscience
Baylor College of Medicine
Houston, Texas United States
Addresses
- BCM-MD Anderson Hall (Hospital)
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Room: BCMA-405A
Houston, TX 77030
United States
Education
- MD from King Saud Bin Abdulaziz University for Health Sciences
- 07/2017 - Riyadh, Saudi Arabia
Selected Publications
- "Biallelic UFM1 and UFC1 Mutations Expand the Essential Role of Ufmylation in Brain Development." ; Pubmed PMID: 29868776
- "Biallelic Mutations in Tetratricopeptide Repeat Domain 26 (Intraflagellar Transport 56) Cause Severe Biliary Ciliopathy in Humans." ; Pubmed PMID: 31595528
- "Truncating Biallelic Variant in DNAJA1, Encoding the Co-Chaperone Hsp40, Is Associated With Intellectual Disability and Seizures." ; Pubmed PMID: 30972502
- "A Multicenter Clinical Exome Study in Unselected Cohorts From a Consanguineous Population of Saudi Arabia Demonstrated a High Diagnostic Yield." ; Pubmed PMID: 28454995
- "Confirming the Pathogenicity of NECAP1 in Early Onset Epileptic Encephalopathy." ; Pubmed PMID: 30525121
- "Congenital disorders of glycosylation: The Saudi experience." ; Pubmed PMID: 28742265
- "Expanding the Genetic Heterogeneity of Intellectual Disability." ; Pubmed PMID: 28940097
- "Expanding the Phenome and Variome of Skeletal Dysplasia." ; Pubmed PMID: 29620724
- "Further Delineation of the Clinical Phenotype of Cerebellar Ataxia, Mental Retardation, and Disequilibrium Syndrome Type 4." ; Pubmed PMID: 29531481
- "Genetic Investigation of 93 Families With Microphthalmia or Posterior Microphthalmos." ; Pubmed PMID: 29450879
- "Genomic and Phenotypic Delineation of Congenital Microcephaly." ; Pubmed PMID: 30214071
- "KIF16B Is a Candidate Gene for a Novel Autosomal-Recessive Intellectual Disability Syndrome." ; Pubmed PMID: 29736960
- "Seasonal Variations of Respiratory Viruses Detected From Children With Respiratory Tract Infections in Riyadh, Saudi Arabia." ; Pubmed PMID: 28668655
- "Severe Crohn's Disease Manifestations in a Child With Cystathionine β-Synthase Deficiency." ; Pubmed PMID: 30775396
- "Aortic Calcification in Gaucher Disease: A Case Report." ; Pubmed PMID: 30410382
Languages
Arabic
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