Browsing by Author "Tayoun, Ahmad N. Abou"
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Comprehensive Genomic Sequencing–Based Screening for Hearing Loss in the Neonatal Intensive Care Setting—Is It Time?
Tayoun, Ahmad N. Abou (2022)Introduction: Zhu et al assessed the utility of combining expanded genomic sequencing with traditional physiological newborn hearing screening (NBHS) in the neonatal intensive care unit (NICU). The benefits associated ... -
Elevated ASCL1 activity creates de novo regulatory elements associated with neuronal diferentiation
Ali, Fahad R; Gomez, Roshna Lawrence; Tayoun, Ahmad N. Abou (2022)Background: The pro-neural transcription factor ASCL1 is a master regulator of neurogenesis and a key factor necessary for the reprogramming of permissive cell types to neurons. Endogenously, ASCL1 expression is often ... -
Evaluating the impact of in silico predictors on clinical variant classification
Tayoun, Ahmad N. Abou (2021)Background: In silico evidence is important to consider when interpreting genetic variants. According to the ACMG/AMP, in silico evidence is applied at the supporting strength level using the PP3 and BP4 criteria, for ... -
Genetic variation in the Middle East—an opportunity to advance the human genetics field
Tayoun, Ahmad N. Abou (2020)Abstract: We highlight the current lack of representation of the Middle East from large genomic studies and emphasize the expected high impact of cataloging its variation. We discuss the limiting factors and possible ... -
Genomic medicine in the Middle East
Tayoun, Ahmad N. Abou; Alsheikh-Ali, Alawi (2021)Abstract: We discuss the current state of genomic medicine in Arab countries of the Middle East, a region with outsized contribution to Mendelian genetics due to inbreeding yet has poor representation in global variome ... -
Genomic medicine in the Middle East
Tayoun, Ahmad N. Abou; Alsheikh-Ali, Alawi (2021)Abstract: We discuss the current state of genomic medicine in Arab countries of the Middle East, a region with outsized contribution to Mendelian genetics due to inbreeding yet has poor representation in global variome ... -
Rapid whole genome sequencing of critically ill pediatric patients from genetically underrepresented populations
Alsheikh-Ali, Alawi; Tayoun, Ahmad N. Abou (2022)Abstract: We describe a case series of fve infants (age range: 1–90 days; 4 females and 1 male) who presented to Al Jalila Chil dren’s intensive care units (ICU) with complex multisystem disorders. Patients were Emirati, ...