J
Judith D. Ranells
Researcher at University of South Florida
Publications - 17
Citations - 519
Judith D. Ranells is an academic researcher from University of South Florida. The author has contributed to research in topics: Autism & Prenatal diagnosis. The author has an hindex of 9, co-authored 17 publications receiving 379 citations.
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Journal ArticleDOI
GRIN2B encephalopathy: Novel findings on phenotype, variant clustering, functional consequences and treatment aspects
Konrad Platzer,Hongjie Yuan,Hannah Schütz,Alexander Winschel,Wenjuan Chen,Chun Hu,Hirofumi Kusumoto,Henrike O. Heyne,Katherine L. Helbig,Sha Tang,Marcia C. Willing,Brad T. Tinkle,Darius J Adams,Christel Depienne,Christel Depienne,Christel Depienne,Boris Keren,Boris Keren,Cyril Mignot,Eirik Frengen,Petter Strømme,Saskia Biskup,Dennis Döcker,Tim M. Strom,Heather C Mefford,Candace T. Myers,Alison M. Muir,Amy Lacroix,Lynette G. Sadleir,Ingrid E. Scheffer,Eva H. Brilstra,Mieke M. van Haelst,Jasper J. van der Smagt,Levinus A. Bok,Rikke S. Møller,Rikke S. Møller,Uffe Birk Jensen,John Millichap,Anne T. Berg,Ethan M. Goldberg,Isabelle De Bie,Stephanie Fox,Philippe Major,Julie R. Jones,Elaine H. Zackai,Rami Abou Jamra,Arndt Rolfs,Richard J. Leventer,Richard J. Leventer,John A. Lawson,Tony Roscioli,Floor E. Jansen,Emmanuelle Ranza,Christian Korff,Anna-Elina Lehesjoki,Carolina Courage,Tarja Linnankivi,Douglas R. Smith,Christine M. Stanley,Mark Mintz,Dianalee McKnight,Amy Decker,Wen-Hann Tan,Mark A. Tarnopolsky,Lauren Brady,Markus Wolff,Lutz Dondit,Helio Pedro,Sarah E Parisotto,Kelly L. Jones,Anup D. Patel,Anup D. Patel,David Neal Franz,Rena Vanzo,Elysa J. Marco,Judith D. Ranells,Nataliya Di Donato,William B. Dobyns,William B. Dobyns,Bodo Laube,Stephen F. Traynelis,Johannes R. Lemke +81 more
TL;DR: Evidence is found that GRIN2B encephalopathy is also frequently associated with movement disorder, cortical visual impairment and MCD revealing novel phenotypic consequences of channelopathies, and an objectifiable beneficial treatment response in the respective patients still remains to be demonstrated.
Journal ArticleDOI
Infantile hypertrophic pyloric stenosis: epidemiology, genetics, and clinical update.
Journal ArticleDOI
Impaired eIF5A function causes a Mendelian disorder that is partially rescued in model systems by spermidine.
Víctor Faundes,Víctor Faundes,Martin D. Jennings,Martin D. Jennings,Siobhan Crilly,Sarah Legraie,Sarah E. Withers,Sara Cuvertino,Sally J. Davies,Andrew G. L. Douglas,Andrew G. L. Douglas,Andrew E. Fry,Andrew E. Fry,Victoria Harrison,Jeanne Amiel,Jeanne Amiel,Jeanne Amiel,Daphné Lehalle,William G. Newman,William G. Newman,Patricia Newkirk,Judith D. Ranells,Miranda Splitt,Laura A Cross,Laura A Cross,Carol J Saunders,Carol J Saunders,Bonnie Sullivan,Bonnie Sullivan,Jorge L. Granadillo,Christopher T. Gordon,Christopher T. Gordon,Paul R. Kasher,Paul R. Kasher,Graham D. Pavitt,Graham D. Pavitt,Siddharth Banka,Siddharth Banka +37 more
TL;DR: In this paper, the role of EIF5A in human development and disease, demonstrate the mechanistic complexity of the Mendelian disorder and raise possibilities for its treatment eIF5a is critical for protein synthesis but has not yet been associated with congenital human disease.
Journal ArticleDOI
Localization of the giant axonal neuropathy gene to chromosome 16q24
Kevin M. Flanigan,Kevin M. Flanigan,Thomas O. Crawford,John W. Griffin,Hans H. Goebel,Alfried Kohlschütter,Judith D. Ranells,Peter Camfield,Louis J. Ptáček,Louis J. Ptáček,Louis J. Ptáček +10 more
TL;DR: Determination of this locus is the first step toward characterizing the gene responsible for a fundamental property of intermediate filament organization and may shed light on other disorders in which neurofilament pathology is prominent.
Journal ArticleDOI
Disruptive variants of CSDE1 associate with autism and interfere with neuronal development and synaptic transmission
Hui Guo,Hui Guo,Ying Li,Lu Shen,Tianyun Wang,Tianyun Wang,Xiangbin Jia,Lijuan Liu,Tao Xu,Mengzhu Ou,Kendra Hoekzema,Huidan Wu,Madelyn A. Gillentine,Cenying Liu,Hailun Ni,Pengwei Peng,Rongjuan Zhao,Yu Zhang,Chanika Phornphutkul,Alexander P.A. Stegmann,Carlos E. Prada,Robert J. Hopkin,Joseph T. Shieh,Kirsty McWalter,Kristin G. Monaghan,Peter M. van Hasselt,Koen L.I. van Gassen,Ting Bai,Min Long,Lin Han,Yingting Quan,Meilin Chen,Yaowen Zhang,Kuokuo Li,Qiumeng Zhang,Jieqiong Tan,Tengfei Zhu,Yaning Liu,Nan Pang,J Peng,Daryl A. Scott,Seema R. Lalani,Mahshid Azamian,Grazia M.S. Mancini,Darius J. Adams,Malin Kvarnung,Malin Kvarnung,Anna Lindstrand,Anna Lindstrand,Ann Nordgren,Ann Nordgren,Jonathan Pevsner,Jonathan Pevsner,Ikeoluwa A. Osei-Owusu,Ikeoluwa A. Osei-Owusu,Corrado Romano,Giuseppe Calabrese,Ornella Galesi,Jozef Gecz,E. Haan,Judith D. Ranells,Melissa Racobaldo,Magnus Nordenskjöld,Magnus Nordenskjöld,Suneeta Madan-Khetarpal,Jessica Sebastian,Susie Ball,Xiaobing Zou,Jingping Zhao,Zhengmao Hu,Fan Xia,Fan Xia,Pengfei Liu,Pengfei Liu,Jill A. Rosenfeld,Bert B.A. de Vries,Raphael Bernier,Zhi-Qing David Xu,Honghui Li,Wei Xie,Robert B. Hufnagel,Evan E. Eichler,Kun Xia +82 more
TL;DR: A new autism-related syndrome is defined and the functional role of CSDE1 in synapse development and synaptic transmission is highlighted, which is linked to overgrowth of neurites and abnormal dendritic spine morphology/synapse formation and impaired synaptic transmission.