Adila Al‐Kindy

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 · 309 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes

Enza Maria Valente, Clare V. Logan, Soumaya Mougou-Zerelli et al. · Nature Genetics · 2010 · 285 citations

Life Sciences, Genetics, Molecular Genetics +8

Coffin–Siris syndrome is a <scp>SWI</scp>/<scp>SNF</scp> complex disorder

Yoshinori Tsurusaki, Nobuhiko Okamoto, Hirofumi Ohashi et al. · Clinical Genetics · 2013 · 143 citations

Life Sciences, Genetics, Molecular Genetics +16

The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndrome

Pleuntje J. van der Sluijs, Sandra Jansen, Samantha A. Schrier Vergano et al. · Genetics in Medicine · 2018 · 134 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Genotype-phenotype associations in neurofibromatosis type 1 (NF1): an increased risk of tumor complications in patients with NF1splice-site mutations?

Adila Al‐Kindy, Nadia Chuzhanova, Usha Kini et al. · Human Genomics · 2012 · 68 citations · Full text

Medicine, Genetics, Molecular Genetics +17