Maha S. Zaki


AuthID: R-00G-3DJ

Publications Requiring Validation

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; Prus, Eugenia; Kalish, Yosef; Meiner, Vardiella; Suerink, Manon; Ruivenkamp, Claudia; Muirhead, Kayla; Saadi, Nebal W.; Zaki, Maha S.; Bouman, Arjan; Barakat, Tahsin Stefan; Skidmore, David L.; Osmond, Matthew; Silva, Thiago Oliveira; Murphy, David; Karimiani, Ehsan Ghayoor; Jamshidi, Yalda; Jaddoa, Asaad Ghanim; Tajsharghi, Homa; Jin, Sheng Chih; Abbaszadegan, Mohammad Reza; Ebrahimzadeh Vesal, Reza; Hosseini, Susan; Alavi, Shahryar; Bahreini, Amir; Zarean, Elahe; Salehi, Mohammad Mehdi; Al Sannaa, Nouriya Abbas; Zifarelli, Giovanni; Bauer, Peter; Robson, Simon C.; Coban Akdemir, Zeynep; Travaglini, Lorena; Nicita, Francesco; Jhangiani, Shalini N.; Gibbs, Richard A.; Posey, Jennifer E.; Kruer, Michael C.; Kernohan, Kristin D.; Morales Saute, Jonas A.; Houlden, Henry; Vanderver, Adeline; Elsea, Sarah H.; Pehlivan, Davut; Marafi, Dana; Lupski, James R.; ...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; Martha Brown; Pamela Trapane; Anna C E Hurst; Lane L Rutledge; Dana H Goodloe; Marie T McDonald; Vandana Shashi; Kelly Schoch; Hoda Tomoum; Raghda Zaitoun; Zahra Hadipour; Hamid Galehdari; Alistair T Pagnamenta; Majid Mojarrad; Alireza Sedaghat; Patricia Dias; Sofia Quintas; Atiyeh Eslahi; Gholamreza Shariati; Peter Bauer; Cas Simons; Henry Houlden; Mahmoud Y Issa; Maha S Zaki; Reza Maroofian; Joseph G Gleeson; ...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; Ignacio P Castroviejo; Mitsutoshi Setou; Clara Barbot ; Eugen Boltshauser; Stanley F Nelson; Friedhelm Hildebrandt; Colin A Johnson; Daniel A Doherty; Enza Maria Valente; Joseph G Gleeson; ...More
PUBLISHED: 2012, SOURCE: NATURE GENETICS, VOLUME: 44, ISSUE: 2
INDEXED IN: Scopus WOS CrossRef

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