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Tawfeg Ben-Omran

Hamad Medical Corporation
Cornell University
Qatar Airways

118

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3851

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The first European consensus on principles of management for achondroplasia.

2021 Orphanet Journal of Rare Diseases
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Expanding on the phenotypic spectrum of Woodhouse-Sakati syndrome due to founder pathogenic variant in DCAF17: Report of 58 additional patients from Qatar and literature review

2021 American Journal of Medical Genetics Part A
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Gene therapy for spinal muscular atrophy: the Qatari experience.

2021 Gene Therapy
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Author response for "Epileptic encephalopathy caused by ARV1 deficiency: Refinement of the genotype-phenotype spectrum and functional impact on GPI-anchored proteins"

2021
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Recurrent episodes of hypoglycemia in an infant with type 1 spinal muscular atrophy after gene therapy: Beta oxidation defect exaggerated by hepatic dysfunction.

2021
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De novo variants in TCF7L2 are associated with a syndromic neurodevelopmental disorder.

2021 American Journal of Medical Genetics Part A
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Epileptic encephalopathy caused by ARV1 deficiency: Refinement of the genotype-phenotype spectrum and functional impact on GPI-anchored proteins.

2021 Clinical Genetics
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Loss of MANF causes childhood onset syndromic diabetes due to increased endoplasmic reticulum stress.

2021 Diabetes
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Clinical and Molecular Characterization of Qatari Patients with Inherited Dysfibrinogenemia

2021 Blood
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A founder RAB27A variant causes Griscelli syndrome type 2 with phenotypic heterogeneity in Qatari families.

2020 American Journal of Medical Genetics Part A
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