L
Lihadh Al-Gazali
Researcher at United Arab Emirates University
Publications - 215
Citations - 13538
Lihadh Al-Gazali is an academic researcher from United Arab Emirates University. The author has contributed to research in topics: Exome sequencing & Gene. The author has an hindex of 56, co-authored 208 publications receiving 12081 citations. Previous affiliations of Lihadh Al-Gazali include Necker-Enfants Malades Hospital.
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Journal ArticleDOI
An SCN9A channelopathy causes congenital inability to experience pain
James J. Cox,Frank Reimann,Adeline K Nicholas,Gemma K. Thornton,Emma Roberts,Kelly Springell,G. Karbani,Hussain Jafri,Jovaria Mannan,Yasmin Raashid,Lihadh Al-Gazali,Henan Hamamy,Enza Maria Valente,Shaun Gorman,Richard Aled Williams,Duncan McHale,John N. Wood,Fiona M. Gribble,C. Geoffrey Woods +18 more
TL;DR: The data suggest that SCN9A is an essential and non-redundant requirement for nociception in humans, and should stimulate the search for novel analgesics that selectively target this sodium channel subunit.
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Using Whole-Exome Sequencing to Identify Inherited Causes of Autism
Timothy W. Yu,Maria H. Chahrour,Michael E. Coulter,Sarn Jiralerspong,Kazuko Okamura-Ikeda,Bulent Ataman,Klaus Schmitz-Abe,David A. Harmin,Mazhar Adli,Athar N. Malik,Alissa M. D'Gama,Elaine T. Lim,Stephen Sanders,Ganesh H. Mochida,Jennifer N. Partlow,Christine M. Sunu,Jillian M. Felie,Jacqueline Rodriguez,Ramzi Nasir,Janice Ware,Robert M. Joseph,R. Sean Hill,Benjamin Y. Kwan,Muna Al-Saffar,Muna Al-Saffar,Nahit Motavalli Mukaddes,Asif Hashmi,Soher Balkhy,Generoso G. Gascon,Generoso G. Gascon,Generoso G. Gascon,Fuki M. Hisama,Elaine LeClair,Annapurna Poduri,Ozgur Oner,Samira Al-Saad,S. A. Al-Awadi,Laila Bastaki,Tawfeg Ben-Omran,Tawfeg Ben-Omran,Ahmad S. Teebi,Ahmad S. Teebi,Lihadh Al-Gazali,Valsamma Eapen,Christine Stevens,Leonard Rappaport,Stacey Gabriel,Kyriacos Markianos,Matthew W. State,Michael E. Greenberg,Hisaaki Taniguchi,Nancy Braverman,Eric M. Morrow,Christopher A. Walsh +53 more
TL;DR: The utility of whole-exome sequencing for identifying specific genetic conditions not clinically suspected and the importance of partial loss of gene function in ASDs are shown.
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Mutations in CEP290 , which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome
Enza Maria Valente,Jennifer L. Silhavy,Francesco Brancati,Francesco Brancati,Giuseppe Barrano,Giuseppe Barrano,Suguna Rani Krishnaswami,Marco Castori,Marco Castori,Madeline A. Lancaster,Eugen Boltshauser,Loredana Boccone,Lihadh Al-Gazali,Elisa Fazzi,Sabrina Signorini,Carrie M. Louie,Emanuele Bellacchio,Enrico Bertini,Bruno Dallapiccola,Bruno Dallapiccola,Joseph G. Gleeson +20 more
TL;DR: This paper identified mutations in the CEP290 gene in five families with variable neurological, retinal and renal manifestations of JSRD and showed centrosome and ciliary localization, linking JSRDs to other human ciliopathies.
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Mutations in the Pericentrin (PCNT) Gene Cause Primordial Dwarfism
Anita Rauch,Christian Thiel,Detlev Schindler,Ursula Wick,Yanick J. Crow,Arif B. Ekici,Anthonie J. van Essen,Timm O. Goecke,Lihadh Al-Gazali,Krystyna H. Chrzanowska,Christiane Zweier,Han G. Brunner,Kristin Becker,Cynthia J. Curry,Bruno Dallapiccola,Koenraad Devriendt,Arnd Dörfler,Esther Kinning,André Mégarbané,Peter Meinecke,Robert K. Semple,Stephanie Spranger,Annick Toutain,Richard C. Trembath,Egbert Voss,Louise C. Wilson,Raoul C.M. Hennekam,Raoul C.M. Hennekam,Raoul C.M. Hennekam,Francis de Zegher,Helmuth G. Dörr,André Reis +31 more
TL;DR: Using genetic linkage analysis, the authors found that mutations in the centrosomal pericentrin (PCNT) gene on chromosome 21q22.3 cause microcephalic osteodysplastic primordial dwarfism type II (MOPD II) in 25 patients.
Journal ArticleDOI
Mutations in the Cilia Gene ARL13B Lead to the Classical Form of Joubert Syndrome
Vincent Cantagrel,Jennifer L. Silhavy,Stephanie L. Bielas,Dominika Swistun,Sarah E. Marsh,Julien Y. Bertrand,Sophie Audollent,Tania Attié-Bitach,Kenton R. Holden,William B. Dobyns,David Traver,Lihadh Al-Gazali,Bassam R. Ali,Tom H. Lindner,Tamara Caspary,Edgar A. Otto,Friedhelm Hildebrandt,Ian A. Glass,Clare V. Logan,Colin A. Johnson,Christopher P. Bennett,Francesco Brancati,Enza Maria Valente,C. Geoffrey Woods,Joseph G. Gleeson +24 more
TL;DR: Overexpression of human wild-type but not patient mutant ARL13B rescued the Arl13b scorpion zebrafish mutant, indicating an evolutionarily conserved role mediating cilia function in multiple organs.