Zeineb Bakey

Mutations in PIH1D3 Cause X-Linked Primary Ciliary Dyskinesia with Outer and Inner Dynein Arm Defects

Tamara Paff, Niki T. Loges, Isabella Aprea et al. · The American Journal of Human Genetics · 2016 · 158 citations · Full text

Life Sciences, Genetics, Molecular Genetics +15

Recessive DNAH9 Loss-of-Function Mutations Cause Laterality Defects and Subtle Respiratory Ciliary-Beating Defects

Niki T. Loges, Dinu Antony, Aleš Maver et al. · The American Journal of Human Genetics · 2018 · 144 citations · Full text

Life Sciences, Genetics, Molecular Genetics +13

Mutations in C11orf70 Cause Primary Ciliary Dyskinesia with Randomization of Left/Right Body Asymmetry Due to Defects of Outer and Inner Dynein Arms

Inga M. Höben, Rim Hjeij, Heike Olbrich et al. · The American Journal of Human Genetics · 2018 · 72 citations · Full text

Life Sciences, Genetics, Molecular Genetics +12

Cellular ciliary phenotyping indicates pathogenicity of novel variants in IFT140 and confirms a Mainzer–Saldino syndrome diagnosis

Machteld M. Oud, Brooke Latour, Zeineb Bakey et al. · Cilia · 2018 · 38 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

MAB21L1 loss of function causes a syndromic neurodevelopmental disorder with distinctive <i>c</i>erebellar, <i>o</i>cular, cranio<i>f</i>acial and <i>g</i>enital features (COFG syndrome)

Abolfazl Rad, Umut Altunoğlu, Rebecca Miller et al. · Journal of Medical Genetics · 2018 · 38 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17