Spliceosome malfunction causes neurodevelopmental disorders with overlapping features
Dong Li(Children's Hospital of Philadelphia), Jessica Douglas(Boston University), Mark R. Battig(Children's Hospital of Philadelphia), Emanuele Agolini(Bambino Gesù Children's Hospital), Gijs van Haaften, Andrea Petersen(Legacy Emanuel Medical Center), Antonio Novelli(Bambino Gesù Children's Hospital), Michael J. Lyons, Mark A. Tarnopolsky(McMaster University), Khanh Lai(University of Utah), Daniëlle G.M. Bosch(Erasmus MC), Rachel Palmquist(University of Utah), Michael March(Children's Hospital of Philadelphia), Radka Kremlíková Pourová(Charles University), Martin Schwarz(Boston Children's Hospital), Qin Wang(Children's Hospital of Philadelphia), Tuğçe B. Balcı(Western University), Cuiping Hou(Children's Hospital of Philadelphia), Beth Keena(Children's Hospital of Philadelphia), Marcello Scala(Muscular Dystrophy Association), Maria Lisa Dentici(Casa Sollievo della Sofferenza), Hanna Faghfoury(University Health Network), Margaret Harr(Children's Hospital of Philadelphia), Lea Kristin Parsley(Mercy Health System), Michele Iacomino(Istituto Giannina Gaslini), Gabrielle Lemire(Broad Institute), Timothy J. Maarup(Kaiser Permanente), Raymond J. Louie(Greenwood Genetic Center), Anushree Aneja(Children's Hospital of Philadelphia), Leslie Granger(Legacy Emanuel Medical Center), Melissa Byler(SUNY Upstate Medical University), Federico Zara(Istituto Giannina Gaslini), Robert Roger Lebel(SUNY Upstate Medical University), Lauren Brady(McMaster Children's Hospital), Kym M. Boycott(University of Ottawa), Allan Bayat(University of Copenhagen), Nora O’Connor(Children's Hospital of Philadelphia), Gemma Aznar‐Laín, Michael Parker(Wellcome Sanger Institute), Miroslava Hančárová(Charles University), Meghan C. Towne(Ambry Genetics (United States)), Šárka Bendová(Charles University), Yijing Zhou(Children's Hospital of Philadelphia), Pasquale Striano(Istituto Giannina Gaslini), Luis A. Pérez‐Jurado(Universitat Pompeu Fabra), Elizabeth Bhoj(Children's Hospital of Philadelphia), Meredith S. Wright(Children’s Institute), Megan Li(Invitae (United States)), Annina H. Cooper(Kaiser Permanente), Zdeněk Sedláček(Charles University)
Cited by 44
Related Papers
Recurrent Rearrangements of Chromosome 1q21.1 and Variable Pediatric Phenotypes
|New England Journal of Medicine|2008|811
Somatic mutations of the histone H3K27 demethylase gene UTX in human cancer
|Nature Genetics|2009|788
De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes
|Nature Genetics|2012|752
Frequency, symptoms, risk factors, and outcomes of autoimmune encephalitis after herpes simplex encephalitis: a prospective observational study and retrospective analysis
|The Lancet Neurology|2018|645
Diagnosis and management of mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society
|Genetics in Medicine|2014|605