作者：Dr. rer. nat. Daniel Murad Ibrahim (1) (2)

1. Institut f眉r Medizinische Genetik und Humangenetik ; Universit盲tsklinikum Charit茅 ; Campus Virchow-Klinikum ; Augustenburger Platz 1 ; 13353 ; Berlin ; Deutschland
2. Max-Planck Institut f眉r Molekulare Genetik ; Ihnestr. 63鈥?3 ; 14195 ; Berlin ; Deutschland

关键词：Transkriptionsfaktor ; Genregulation ; Gain ; of ; Function ; Mutation ; Punktmutation ; Missense ; Mutation ; Transcription factor ; Gene regulation ; Gain ; of ; function mutation ; Point mutation ; Missense mutation

刊名：medizinische genetik

出版年：2015

作者：Marc Sultan (3) (4)
Vyacheslav Amstislavskiy (3)
Thomas Risch (3)
Moritz Schuette (3)
Simon D枚kel (3)
Meryem Ralser (3)
Daniela Balzereit (3)
Hans Lehrach (3)
Marie-Laure Yaspo (3)

3. Max Planck Institute for Molecular Genetics ; Ihnestr. 63-73 ; Berlin ; 14195 ; Germany
4. Novartis Institutes for Biomedical Research ; Biomarker Development ; Fabrikstr. 10 ; Basel ; Switzerland

关键词：RNA ; Seq ; RNA extraction ; rRNA depletion ; poly(A)+鈥塻election ; Intronic reads

刊名：BMC Genomics

出版年：2014

作者：Damian Smedley (45)
Sebastian Kohler (46) (47)
William Bone (48)
Anika Oellrich (45)
Jules Jacobsen (45)
Kai Wang (49)
Chris Mungall (50)
Nicole Washington (50)
Sebastian Bauer (46) (47)
Dominic Seelow (51)
Peter Krawitz (46) (47) (52)
Cornelius Boerkel (48)
Christian Gilissen (53)
Melissa Haendel (54)
Suzanna E Lewis (49)
Peter N Robinson (46) (47) (51)
Sanger Mouse Genetics Project (45)

45. Mouse Genetics Project ; Wellcome Trust Sanger Institute ; Hinxton ; UK
46. Institute for Medical and Human Genetics ; Charite-Universitatsmedizin Berlin ; Augustenburger Platz 1 ; 13353 ; Berlin ; Germany
47. Max Planck Institute for Molecular Genetics ; Ihnestr. 63鈥?3 ; 14195 ; Berlin ; Germany
48. National Institutes of Health ; NHGRI ; UDP Translational Laboratory ; Rockville ; USA
49. Center for Applied Genomics ; Childrens Hospital of Philadelphia ; University of Pennsylvania ; Philadelphia ; PA ; 19104 ; USA
50. Genomics Division ; Lawrence Berkeley National Laboratory ; Berkeley ; CA ; 94720 ; USA
51. Department of Neuropaediatrics Charite-Universitatsmedizin Berlin ; Augustenburger Platz 1 ; 13353 ; Berlin ; Germany
52. Berlin Brandenburg Center for Regenerative Therapies ; Charite-Universitatsmedizin Berlin ; Augustenburger Platz 1 ; 13353 ; Berlin ; Germany
53. Department of Human Genetics ; Nijmegen Centre for Molecular Life Sciences and Institute for Genetic and Metabolic Disorders ; Radboud University Nijmegen Medical Centre ; Nijmegen ; the Netherlands
54. University Library and Department of Medical Informatics and Epidemiology ; Oregon Health & Sciences University ; Portland ; OR ; USA

刊名：Orphanet Journal of Rare Diseases

出版年：2014