Adila Al‐Kindy
Sultan Qaboos University(OM)
Publications by Year
Research Areas
Genomic variations and chromosomal abnormalities, Congenital Ear and Nasal Anomalies, RNA Research and Splicing, RNA modifications and cancer, Genomics and Rare Diseases
Most-Cited Works
- → The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes(2017)300 cited
- → Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes(2010)282 cited
- → Coffin–Siris syndrome is a SWI/SNF complex disorder(2013)142 cited
- → The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndrome(2018)132 cited
- → Genotype-phenotype associations in neurofibromatosis type 1 (NF1): an increased risk of tumor complications in patients with NF1splice-site mutations?(2012)66 cited
- → Heterogeneity of mutational mechanisms and modes of inheritance in auriculocondylar syndrome(2013)56 cited
- → Constitutional trisomy 8 mosaicism syndrome: case report and review.(2013)22 cited
- → Diagnostic Yield of Chromosomal Microarray Analysis in a Cohort of Patients with Autism Spectrum Disorders from a Highly Consanguineous Population(2015)10 cited
- → Correction: The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndrome(2019)9 cited
- → A biallelic variant of the RNA exosome gene, EXOSC4, associated with neurodevelopmental defects impairs RNA exosome function and translation(2024)8 cited