G
Ghada A. Otaify
Researcher at Washington University in St. Louis
Publications - 39
Citations - 640
Ghada A. Otaify is an academic researcher from Washington University in St. Louis. The author has contributed to research in topics: Exome sequencing & Missense mutation. The author has an hindex of 13, co-authored 33 publications receiving 422 citations. Previous affiliations of Ghada A. Otaify include Shriners Hospitals for Children.
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Journal ArticleDOI
Genomic and phenotypic delineation of congenital microcephaly.
Ranad Shaheen,Sateesh Maddirevula,Nour Ewida,Saud Alsahli,Ghada M H Abdel-Salam,Maha S. Zaki,Saeed Al Tala,Amal Alhashem,Ameen Softah,Mohammed Al-Owain,Anas M. Alazami,Basma Abadel,Nisha Patel,Tarfa Al-Sheddi,Rana Alomar,Eman Alobeid,Niema Ibrahim,Mais Hashem,Firdous Abdulwahab,Muddathir H Hamad,Brahim Tabarki,Ali H Alwadei,Fahad Al-Hazzani,Fahad A. Bashiri,Amal Y. Kentab,Serdar Şahintürk,Elliott H. Sherr,Brieana Fregeau,Samira Sogati,Saad AlShahwan,Salwa M. Alkhalifi,Zainab Al-Humaidi,Samia A. Temtamy,Mona Aglan,Ghada A. Otaify,Katta M. Girisha,Maha Tulbah,Mohammed Zain Seidahmed,Mustafa A. Salih,Mohamed Abouelhoda,Afaque Ahmad Imtiyaz Momin,Muna Al Saffar,Muna Al Saffar,Jennifer N. Partlow,Stefan T. Arold,Eissa Faqeih,Christopher A. Walsh,Christopher A. Walsh,Fowzan S. Alkuraya,Fowzan S. Alkuraya +49 more
TL;DR: This study refines the phenotype of CM, expands its genetics heterogeneity, and informs the workup of children born with this developmental brain defect.
Journal ArticleDOI
A novel homozygous mutation in FGFR3 causes tall stature, severe lateral tibial deviation, scoliosis, hearing impairment, camptodactyly, and arachnodactyly.
Periklis Makrythanasis,Samia A. Temtamy,Mona Aglan,Ghada A. Otaify,Hanan Hamamy,Stylianos E. Antonarakis +5 more
TL;DR: This is the first report of a homozygous loss‐of‐function mutation in FGFR3 in human that results in a skeletal overgrowth syndrome.
Journal ArticleDOI
FAM46A mutations are responsible for autosomal recessive osteogenesis imperfecta
Mathilde Doyard,Séverine Bacrot,Céline Huber,Maja Di Rocco,Alice Goldenberg,Mona Aglan,Perrine Brunelle,Samia A. Temtamy,Caroline Michot,Ghada A. Otaify,Coralie Haudry,Mireille Castanet,Julien Leroux,Jean-Paul Bonnefont,Arnold Munnich,Geneviève Baujat,Pablo Lapunzina,Pablo Lapunzina,Sophie Monnot,Victor L. Ruiz-Perez,Victor L. Ruiz-Perez,Valérie Cormier-Daire +21 more
TL;DR: It is concluded that FAM46A mutations are responsible for a severe form of OI with congenital bowing of the lower limbs and suggest screening this gene in unexplained OI forms.
Journal ArticleDOI
Specific variants in WDR35 cause a distinctive form of Ellis-van Creveld syndrome by disrupting the recruitment of the EvC complex and SMO into the cilium
José A. Caparrós-Martín,Alessandro De Luca,François Cartault,Mona Aglan,Samia A. Temtamy,Ghada A. Otaify,Mennat I Mehrez,María Valencia,Laura Vázquez,Jean Luc Alessandri,Julián Nevado,Inmaculada Rueda-Arenas,Karen E. Heath,Maria Cristina Digilio,Bruno Dallapiccola,Judith A. Goodship,Pleasantine Mill,Pablo Lapunzina,Victor L. Ruiz-Perez +18 more
TL;DR: It is indicated that splicing variants in WDR35, and possibly in other IFT-A components, underlie a number of EvC cases by disrupting targeting of both the EvC complex and SMO to cilia.
Journal ArticleDOI
Expanding the phenome and variome of skeletal dysplasia.
Sateesh Maddirevula,Saud Alsahli,Lamees Alhabeeb,Nisha Patel,Fatema Alzahrani,Hanan E. Shamseldin,Shams Anazi,Nour Ewida,Hessa S. Alsaif,Jawahir Y. Mohamed,Anas M. Alazami,Niema Ibrahim,Firdous Abdulwahab,Mais Hashem,Mohamed Abouelhoda,Dorota Monies,Nada Al Tassan,Muneera J. Alshammari,Afaf Alsagheir,Mohammed Zain Seidahmed,Samira Sogati,Mona Aglan,Muddathir H. Hamad,Mustafa A. Salih,Ahlam A. Hamed,Nadia Al-Hashmi,Amira Nabil,Fatima Alfadli,Ghada M H Abdel-Salam,Hisham Alkuraya,Winnie Ong Peitee,W T Keng,Abdullah Qasem,Aziza M. Mushiba,Maha S. Zaki,Mahmoud R. Fassad,Majid Alfadhel,Saji Alexander,Yasser Sabr,Samia A. Temtamy,Alka V. Ekbote,Samira Ismail,Gamal Ahmed Hosny,Ghada A. Otaify,Khalda Amr,Saeed Al Tala,Arif O. Khan,Tamer Rizk,Aida Alaqeel,Abdulmonem Alsiddiky,Ankur Singh,Seema Kapoor,Amal Alhashem,Eissa Faqeih,Ranad Shaheen,Fowzan S. Alkuraya +55 more
TL;DR: A strong founder effect for many genes in the authors' cohort allowed us to calculate a minimum disease burden for the autosomal recessive forms of skeletal dysplasia in their population (7.16E-04), which is much higher than the global average.