Adila Al‐Kindi

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

Novel mutations in the ciliopathy-associated gene CPLANE1 (C5orf42) cause OFD syndrome type VI rather than Joubert syndrome

Carine Bonnard, Mohammad Shboul, Seyed Hassan Tonekaboni et al. · European Journal of Medical Genetics · 2018 · 36 citations

Ciliopathy-associated Gene Cplane1, Joubert Syndrome, Genetic Disorder +8

Biallelic variants in <i>CTU2</i> cause DREAM‐PL syndrome and impair thiolation of tRNA wobble U34

Ranad Shaheen, Paul R. Mark, Christopher T. Prevost et al. · Human Mutation · 2019 · 33 citations

Genetics, Dream-pl Phenotype, Genomic Mechanism +16

A novel mutation in DDR2 causing spondylo-meta-epiphyseal dysplasia with short limbs and abnormal calcifications (SMED-SL) results in defective intra-cellular trafficking

Adila Al‐Kindi, Praseetha Kizhakkedath, Huifang Xu et al. · BMC Medical Genetics · 2014 · 32 citations · Full text

The diagnostic yield, candidate genes, and pitfalls for a genetic study of intellectual disability in 118 middle eastern families

Ghalia Al‐Kasbi, Fathiya Al-Murshedi, Adila Al‐Kindi et al. · Scientific Reports · 2022 · 29 citations · Full text