Variants in PUS7 Cause Intellectual Disability with Speech Delay, Microcephaly, Short Stature, and Aggressive Behavior

Author:

de Brouwer Arjan P.M.,Abou Jamra Rami,Körtel Nadine,Soyris Clara,Polla Daniel L.,Safra Modi,Zisso Avia,Powell Christopher A.,Rebelo-Guiomar Pedro,Dinges Nadja,Morin Violeta,Stock Michael,Hussain Mureed,Shahzad Mohsin,Riazuddin Saima,Ahmed Zubair M.,Pfundt Rolph,Schwarz Franziska,de Boer Lonneke,Reis André,Grozeva Detilina,Raymond F. Lucy,Riazuddin Sheikh,Koolen David A.,Minczuk Michal,Roignant Jean-Yves,van Bokhoven Hans,Schwartz Schraga

Funder

Action Medical Research

NIHR Biomedical Research Centre, UK

Israel Science Foundation

European Research Council

The Abramson Family Center for Young Scientists

David and Fela Shapell Family Foundation INCPM Fund for Preclinical Studies

Estate of David Turner

Berlin Family Foundation New Scientist Fund

DFG

DIP

CAPES

EU FP7 Large-Scale Integrating Project Genetic and Epigenetic Networks in Cognitive Dysfunction

Higher Education Commission in Pakistan

University of Maryland

Medical Research Council, UK

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics

Reference38 articles.

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3. Posttranscriptionally modified nucleosides in transfer RNA: their locations and frequencies;Grosjean;Biochimie,1995

4. Compilation of sequences of tRNA genes;Sprinzl;Nucleic Acids Res.,1982

5. Pseudouridines in spliceosomal snRNAs;Yu;Protein Cell,2011

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