R
Robin Clark
Researcher at Loma Linda University Medical Center
Publications - 4
Citations - 170
Robin Clark is an academic researcher from Loma Linda University Medical Center. The author has contributed to research in topics: Exome & Gene. The author has an hindex of 3, co-authored 4 publications receiving 161 citations.
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Journal ArticleDOI
Exome Sequencing and Functional Validation in Zebrafish Identify GTDC2 Mutations as a Cause of Walker-Warburg Syndrome
M. Chiara Manzini,Dimira E. Tambunan,Dimira E. Tambunan,R. Sean Hill,R. Sean Hill,Timothy W. Yu,Timothy W. Yu,Thomas M. Maynard,Erin L. Heinzen,Kevin V. Shianna,Christine Stevens,Jennifer N. Partlow,Jennifer N. Partlow,Brenda J. Barry,Brenda J. Barry,Jacqueline Rodriguez,Jacqueline Rodriguez,Vandana Gupta,Abdel Karim Al-Qudah,Wafaa Eyaid,Jan M. Friedman,Jan M. Friedman,Mustafa A. Salih,Robin Clark,Isabella Moroni,Marina Mora,Alan H. Beggs,Stacey Gabriel,Christopher A. Walsh,Christopher A. Walsh,Christopher A. Walsh +30 more
TL;DR: It is found that gtdc2 knockdown in zebrafish replicates all WWS features (hydrocephalus, ocular defects, and muscular dystrophy), strongly suggesting that GTDC2 mutations cause WWS.
Journal ArticleDOI
The removal of coins from the upper esophageal tract of children by emergency physicians: a pilot study
Edward J. Vargas,Ameer P. Mody,Tommy Y. Kim,T. Kent Denmark,James A. Moynihan,Besh Barcega,Aqeel Khan,Robin Clark,Lance Brown +8 more
TL;DR: This pilot study suggests that the removal of a coin from the upper esophageal tract by an emergency physician can be both safe and effective.
Journal ArticleDOI
Naumoff short-rib polydactyly syndrome compounded with Mohr oral-facial-digital syndrome.
TL;DR: It is suggested the stillborn infant represented a compound of Naumoff short-rib polydactyly syndrome (SRPS-III) and Mohr oral-facial-digital syndrome (OFDS-II).
Journal ArticleDOI
O'Donnell-Luria-Rodan syndrome: description of a second multinational cohort and refinement of the phenotypic spectrum.
Clara Velmans,Anne H. O’Donnell-Luria,Emanuela Argilli,Frédéric Tran Mau-Them,Antonio Vitobello,Marcus Cy Chan,Jasmine L.F. Fung,Megan E. Rech,Angela Abicht,Marion Aubert Mucca,Jason Carmichael,Nicolas Chassaing,Robin Clark,Christine Coubes,Anne-Sophie Denommé-Pichon,John Karl de Dios,Eleina M. England,Benoît Funalot,Marion Gérard,Maries Joseph,Colleen Kennedy,Camille Kumps,Marjolaine Willems,Ingrid M.B.H. van de Laar,Coranne D. Aarts-Tesselaar,Marjon van Slegtenhorst,Daphné Lehalle,Kathleen A. Leppig,Lennart Lessmeier,Lynn Pais,Heather Paterson,Subhadra Ramanathan,Lance H. Rodan,Andrea Superti-Furga,Brian H.Y. Chung,Elliott H. Sherr,Christian Netzer,Christian P. Schaaf,Florian Erger +38 more
TL;DR: The second systematic case series of patients with ODLURO, further refining the mutational and phenotypic spectrum of this not-so-rare syndrome was presented in this article.