Khalid Al‐Thihli

The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes

Dorota Monies, Mohamed Abouelhoda, Moeenaldeen AlSayed et al. · Human Genetics · 2017 · 296 citations · Full text

Enhanced interpretation of newborn screening results without analyte cutoff values

Gregg Marquardt, Robert J. Currier, David McHugh et al. · Genetics in Medicine · 2012 · 123 citations · Full text

Early Diagnosis, Newborn Screening, Neonatology +8

PLPHP deficiency: clinical, genetic, biochemical, and mechanistic insights

Devon L. Johnstone, Hilal H. Al-Shekaili, Maja Tarailo‐Graovac et al. · Brain · 2018 · 85 citations · Full text

Reanalysis of exome sequencing data of intellectual disability samples: Yields and benefits

Maryam Al‐Nabhani, Samiya Al‐Rashdi, Fathiya Al Murshedi et al. · Clinical Genetics · 2018 · 72 citations

Genome-wide Association Study, Intellectual Impairment, Sequencing +15

Efficacy and safety of empagliflozin in glycogen storage disease type Ib: Data from an international questionnaire

Sarah C. Grünert, Terry G. J. Derks, Katarina Adrian et al. · Genetics in Medicine · 2022 · 61 citations · Full text