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Wafaa Eyaid
Researcher at King Abdulaziz Medical City
Publications - 39
Citations - 2824
Wafaa Eyaid is an academic researcher from King Abdulaziz Medical City. The author has contributed to research in topics: Gene & Exome sequencing. The author has an hindex of 20, co-authored 35 publications receiving 2545 citations. Previous affiliations of Wafaa Eyaid include Johns Hopkins University & National Guard Health Affairs.
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Journal ArticleDOI
Abnormal cerebellar development and axonal decussation due to mutations in AHI1 in Joubert syndrome.
Russell J. Ferland,Wafaa Eyaid,Randall V. Collura,Laura D Tully,R. Sean Hill,Doha M. Al-Nouri,Ahmed Al-Rumayyan,Meral Topçu,Generoso G. Gascon,Adria Bodell,Yin Yao Shugart,Maryellen Ruvolo,Christopher A. Walsh,Christopher A. Walsh +13 more
TL;DR: Comparative genetic analysis of AHI1 indicates that it has undergone positive evolutionary selection along the human lineage, and changes in A HI1 may have been important in the evolution of human-specific motor behaviors.
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Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome
Carmen C. Leitch,Norann A. Zaghloul,Erica E. Davis,Corinne Stoetzel,Anna Diaz-Font,Suzanne Rix,Majid Alfadhel,Richard A. Lewis,Wafaa Eyaid,Eyal Banin,Hélène Dollfus,Philip L. Beales,Jose L. Badano,Jose L. Badano,Nicholas Katsanis +14 more
TL;DR: Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome as discussed by the authors, which is a type of hereditary encephalopathy.
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Cranio-lenticulo-sutural dysplasia is caused by a SEC23A mutation leading to abnormal endoplasmic-reticulum-to-Golgi trafficking
Simeon A. Boyadjiev,Simeon A. Boyadjiev,J. Christopher Fromme,Jin Ben,Samuel S. Chong,Christopher Nauta,David J. Hur,George Q. Zhang,Susan Hamamoto,Randy Schekman,Mariella Ravazzola,Lelio Orci,Wafaa Eyaid +12 more
TL;DR: The observations suggest that disrupted endoplasmic reticulum export of the secretory proteins required for normal morphogenesis accounts for CLSD.
Journal ArticleDOI
Mutations in PNKP cause microcephaly, seizures and defects in DNA repair
Jun Shen,Edward C. Gilmore,Edward C. Gilmore,Christine A Marshall,Mary Haddadin,John J. Reynolds,Wafaa Eyaid,Adria Bodell,Brenda J. Barry,Danielle Gleason,Kathryn Allen,Vijay S. Ganesh,Bernard S. Chang,Arthur Grix,R. Sean Hill,Meral Topçu,Keith W. Caldecott,A. James Barkovich,Christopher A. Walsh,Christopher A. Walsh,Christopher A. Walsh +20 more
TL;DR: A previously unknown autosomal recessive disease characterized by microcephaly, early-onset, intractable seizures and developmental delay (denoted MCSZ) is described and multiple mutations in PNKP (polynucleotide kinase 3′-phosphatase) that result in severe neurological disease are identified.
Journal ArticleDOI
The genetic basis of a craniofacial disease provides insight into COPII coat assembly.
J. Christopher Fromme,Mariella Ravazzola,Susan Hamamoto,Mohammed Al-Balwi,Wafaa Eyaid,Simeon A. Boyadjiev,Pierre Cosson,Randy Schekman,Lelio Orci +8 more
TL;DR: Results indicate that the Sar1-Sec23-Sec24 prebudding complex is sufficient to form cargo-containing tubules in vivo, whereas the Sec13-Sec31 complex is required for membrane fission.