Publications by authors named "Nada Derar"

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Abnormalities in pharyngeal arch-derived structures in SATB2-associated syndrome.
Yuri A Zarate, Katherine Bosanko, Nada Derar, Jennifer L Fish

Clin Genet· August 2024

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PRSS8, encoding prostasin, is mutated in patients with autosomal recessive ichthyosis.
Hanan E Shamseldin, Nada Derar, Hamad Alzaidan, Naif AlHathal, Abdullah Alfalah

Hum Genet· April 2023

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COVID-19 in Unvaccinated patients with inherited metabolic disorders: A single center experience.
Ruqaiah Altassan, Raashda A Sulaiman, Abdullah Alfalah, Waad Alwagiat, Eman Megdad, Nada Derar

Eur J Med Genet· November 2022

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Prenatal exome sequencing and chromosomal microarray analysis in fetal structural anomalies in a highly consanguineous population reveals a propensity of ciliopathy genes causing multisystem phenotypes.
Mohamed H Al-Hamed, Wesam Kurdi, Rubina Khan, Maha Tulbah, Maha AlNemer, Nada Derar

Hum Genet· January 2022

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Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann-Steiner syndrome.
Sarah E Sheppard, Ian M Campbell, Margaret H Harr, Nina Gold, Dong Li, Nada Derar

Am J Med Genet A· June 2021

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Analysis of transcript-deleterious variants in Mendelian disorders: implications for RNA-based diagnostics.
Sateesh Maddirevula, Hiroyuki Kuwahara, Nour Ewida, Hanan E Shamseldin, Nisha Patel, Nada Derar

Genome Biol· June 2020

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De novo truncating variants in WHSC1 recapitulate the Wolf-Hirschhorn (4p16.3 microdeletion) syndrome phenotype.
Nada Derar, Zuhair N Al-Hassnan, Mohammed Al-Owain, Dorota Monies, Mohamed Abouelhoda

Genet Med· January 2019

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Acyclovir-Induced Neurotoxicity: A Case Report and Review of Literature.
Mohammed Andaleeb Chowdhury, Nada Derar, Syed Hasan, Bryan Hinch, Shoba Ratnam

Am J Ther· February 2017

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Characterizing the morbid genome of ciliopathies.
Ranad Shaheen, Katarzyna Szymanska, Basudha Basu, Nisha Patel, Nour Ewida, Nada Derar

Genome Biol· November 2016

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Ahsg-fetuin blocks the metabolic arm of insulin action through its interaction with the 95-kD β-subunit of the insulin receptor.
Anton Scott Goustin, Nada Derar, Abdul B Abou-Samra

Cell Signal· April 2013

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