Maher Awni Shahrour

A loss-of-function mutation in human Oxidation Resistance 1 disrupts the spatial–temporal regulation of histone arginine methylation in neurodevelopment

Xiaolin Lin, Wei Qiang Wang, Mingyi Yang, Nadirah S. Damseh et autres

BACKGROUND: Oxidation Resistance 1 (OXR1) gene is a highly conserved gene of the TLDc domain-containing family. OXR1 is involved in fundamental biological and cellular processes, including DNA damage response, antioxidant pathways, cell cycle, neuronal protection, and arginine methylation. In 2019, five patients …

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Loss-of-function mutation in human Oxidation Resistance gene 1 disrupts the spatial-temporal regulation of histone arginine methylation in early brain development

Xiaolin Lin, Wei Ting Wang, Mingyi Yang, Nadirah S. Damseh et autres

Abstract We report a loss-of-function mutation in the TLDc domain of human Oxidation Resistance 1 ( OXR1 ) gene, resulting in early-onset epilepsy, developmental delay, cognitive disabilities, and cerebellar atrophy. Patient lymphoblasts show impaired cell survival, proliferation, and hypersensitivity to oxidative stress. …

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Homozygous frameshift variant in NTNG2, encoding a synaptic cell adhesion molecule, in individuals with developmental delay, hypotonia, and autistic features

Bassam Abu‐Libdeh, Motee Ashhab, Maher Awni Shahrour, Muhannad Daana et autres

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Mitochondrial PITRM1 peptidase loss-of-function in childhood cerebellar atrophy

Yeshaya Langer, Adi Avniel Aran, Süleyman Gülsüner, Bassam Abu Libdeh et autres

Objective To identify the genetic basis of a childhood-onset syndrome of variable severity characterised by progressive spinocerebellar ataxia, mental retardation, psychotic episodes and cerebellar atrophy. Methods Identification of the underlying mutations by whole exome and whole genome sequencing. Consequences were examined in …

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Mutation in the COX4I1 gene is associated with short stature, poor weight gain and increased chromosomal breaks, simulating Fanconi anemia

Bassam Abu‐Libdeh, Liza Douiev, Sarah Amro, Maher Awni Shahrour et autres

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Alcohol versus dry umbilical cord care among newborn infants in occupied Palestinian territory: a controlled trial

Maher Awni Shahrour, Nour AlHuda Sawalha, Murad Masri, Hanan Rajabi et autres

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Hypomyelinating leukodystrophy associated with a deleterious mutation in the ATRN gene

Maher Awni Shahrour, Motee Ashhab, Simon Edvardson, Michal Gur et autres

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Using media to impact health policy-making: an integrative systematic review

Lama Bou-Karroum, Fadi El‐Jardali, Nour Hemadi, Yasmine Faraj et autres

INTRODUCTION: Media interventions can potentially play a major role in influencing health policies. This integrative systematic review aimed to assess the effects of planned media interventions-including social media-on the health policy-making process. METHODS: Eligible study designs included randomized and non-randomized designs, economic …

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Biallelic Variants in OTUD6B Cause an Intellectual Disability Syndrome Associated with Seizures and Dysmorphic Features

Teresa Santiago‐Sim, Lindsay Catherine Burrage, Frédéric Ebstein, Mari Tokita et autres

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Erratum to: PARP10 deficiency manifests by severe developmental delay and DNA repair defect

Maher Awni Shahrour, Claudia M. Nicolae, Simon Edvardson, Motee Ashhab et autres

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Additional file 2: of Using media to impact health policy-making: an integrative systematic review

Lama Bou-Karroum, Fadi El-Jardali, Nour Hemadi, Yasmine Faraj et autres

Included case studies. (DOCX 35 kb)

Additional file 2: of Using media to impact health policy-making: an integrative systematic review

Lama Bou-Karroum, Fadi El-Jardali, Nour Hemadi, Yasmine Faraj et autres

Included case studies. (DOCX 35 kb)