Maha S. Zaki
AuthID: R-00G-3DJ
1
TITLE: Biallelic Variants in the Ectonucleotidase ENTPD1 Cause a Complex Neurodevelopmental Disorder with Intellectual Disability, Distinct White Matter Abnormalities, and Spastic Paraplegia Full Text
AUTHORS: Calame, Daniel G.; Herman, Isabella; Maroofian, Reza; Marshall, Aren E.; Donis, Karina Carvalho; Fatih, Jawid M.; Mitani, Tadahiro; Du, Haowei; Grochowski, Christopher M.; Sousa, Sergio B.; Gijavanekar, Charul; Bakhtiari, Somayeh; Ito, Yoko A.; Rocca, Clarissa; Hunter, Jill, V; Sutton, V. Reid; Emrick, Lisa T.; Boycott, Kym M.; Lossos, Alexander; Fellig, Yakov; ...More
PUBLISHED: 2022, SOURCE: ANNALS OF NEUROLOGY
AUTHORS: Calame, Daniel G.; Herman, Isabella; Maroofian, Reza; Marshall, Aren E.; Donis, Karina Carvalho; Fatih, Jawid M.; Mitani, Tadahiro; Du, Haowei; Grochowski, Christopher M.; Sousa, Sergio B.; Gijavanekar, Charul; Bakhtiari, Somayeh; Ito, Yoko A.; Rocca, Clarissa; Hunter, Jill, V; Sutton, V. Reid; Emrick, Lisa T.; Boycott, Kym M.; Lossos, Alexander; Fellig, Yakov; ...More
PUBLISHED: 2022, SOURCE: ANNALS OF NEUROLOGY
INDEXED IN: Scopus WOS
2
TITLE: A relatively common homozygousTRAPPC4splicing variant is associated with an early-infantile neurodegenerative syndrome
AUTHORS: Shereen G Ghosh; Marcello Scala; Christian Beetz; Guy Helman; Valentina Stanley; Xiaoxu X Yang; Martin W Breuss; Neda Mazaheri; Laila Selim; Fatemeh Hadipour; Lynn Pais; Chloe A Stutterd; Vasiliki Karageorgou; Amber Begtrup; Amy Crunk; Jane Juusola; Rebecca Willaert; Leigh A Flore; Kelly Kennelly; Christopher Spencer; ...More
PUBLISHED: 2020, SOURCE: EUROPEAN JOURNAL OF HUMAN GENETICS
AUTHORS: Shereen G Ghosh; Marcello Scala; Christian Beetz; Guy Helman; Valentina Stanley; Xiaoxu X Yang; Martin W Breuss; Neda Mazaheri; Laila Selim; Fatemeh Hadipour; Lynn Pais; Chloe A Stutterd; Vasiliki Karageorgou; Amber Begtrup; Amy Crunk; Jane Juusola; Rebecca Willaert; Leigh A Flore; Kelly Kennelly; Christopher Spencer; ...More
PUBLISHED: 2020, SOURCE: EUROPEAN JOURNAL OF HUMAN GENETICS
INDEXED IN: Scopus WOS
3
TITLE: CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium Full Text
AUTHORS: Ji Eun Lee; Jennifer L Silhavy; Maha S Zaki; Jana Schroth; Stephanie L Bielas; Sarah E Marsh; Jesus Olvera; Francesco Brancati; Miriam Iannicelli; Koji Ikegami; Andrew M Schlossman; Barry Merriman; Tania Attie Bitach; Clare V Logan; Ian A Glass; Andrew Cluckey; Carrie M Louie; Jeong Ho Lee; Hilary R Raynes; Isabelle Rapin; ...More
PUBLISHED: 2012, SOURCE: NATURE GENETICS, VOLUME: 44, ISSUE: 2
AUTHORS: Ji Eun Lee; Jennifer L Silhavy; Maha S Zaki; Jana Schroth; Stephanie L Bielas; Sarah E Marsh; Jesus Olvera; Francesco Brancati; Miriam Iannicelli; Koji Ikegami; Andrew M Schlossman; Barry Merriman; Tania Attie Bitach; Clare V Logan; Ian A Glass; Andrew Cluckey; Carrie M Louie; Jeong Ho Lee; Hilary R Raynes; Isabelle Rapin; ...More
PUBLISHED: 2012, SOURCE: NATURE GENETICS, VOLUME: 44, ISSUE: 2