Severe neurocognitive and growth disorders due to variation in <i>THOC2</i>, an essential component of nuclear mRNA export machinery

Raman Kumar(The University of Adelaide), Jozef Gécz(The University of Adelaide), Lourdes Loidi(Nationwide Children's Hospital), Jessica Douglas(Boston University), Irene Madrigal(Instituto de Salud Carlos III), Hidehito Inagaki(Fujita Health University Hospital), Mark A. Tarnopolsky(McMaster University), Gretchen Parsons(Spectrum Health), Heather C. Mefford(St. Jude Children's Research Hospital), Laura Domènech(Broad Institute), Simon Sadedin(Murdoch Children's Research Institute), Claire C. Homan(Centre for Cancer Biology), Michael Field(Hunter Genetics), Theresa Mihalic Mosher(Nationwide Children's Hospital), Elizabeth E. Palmer(The University of Sydney), Lauren Brady(McMaster Children's Hospital), Tracy Dudding‐Byth(Hunter Genetics), Zornitza Stark(Zoos Victoria), Dagmar Wieczorek(Essen University Hospital), Paul R. Mark(Spectrum Health), Naoko Ishihara(Fujita Health University), Hiroki Kurahashi, Meredith Gillespie(University of Ottawa), Evelyn Douglas(South Australia Pathology), Gail E. Herman(Nationwide Children's Hospital), C. Nowak(Boston Children's at Waltham), Tim M. Strom(Ludwig-Maximilians-Universität München), Alison Gardner(Women's and Children's Hospital), Raquel Rabionet(Institut Cochin), Hermann‐Josef Lüdecke(Düsseldorf University Hospital), Jesús Manuel Eirís Puñal(Universitat Pompeu Fabra)
Human Mutation
May 31, 2018
Cited by 24


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