SEC24C deficiency causes trafficking and glycosylation abnormalities in an epileptic encephalopathy with cataracts and dyserythropoeisis

¹Institute of Human Genetics, University Medical Center Göttingen, Göttingen, Germany

²Department of Medical Genetics, Ankara City Hospital, Ankara Yildirim Beyazit University, Ankara, Turkey

³Vanderbilt Genetics Institute, Department of Cell and Developmental Biology, Vanderbilt University Medical Cente, Nashville, United States of America

⁴Department of Biology, Concordia University, Montreal, Canada

⁵Department of Chemistry and Biochemistry, Concordia University, Montreal, Canada

⁶Stem Cell Unit, Department of Cardiology and Pneumology, University Medical Center Göttingen, Göttingen, Germany

⁷Biological and Medical Research Center (BMFZ), Genomics & Transcriptomics L, Medical Faculty and University Hospital Düsseldorf, Heinrich-Heine University, Düsseldorf, Germany

⁸Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich-Heine University, Düsseldorf, Germany

⁹Berlin Institute of Health at Charité-Universitätsmedizin Berlin, Berlin, Germany

¹⁰Department of Pediatric Hematology, Ankara Bilkent City Hospital, Ankara, Turkey

¹¹Division of Pediatric Neurology, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey

¹²Center for Pediatric and Adolescent Medicine, Department I, Heidelberg University, Heidelberg, Germany

Find articles by Bögershausen, N. in: JCI | PubMed | Google Scholar

¹Institute of Human Genetics, University Medical Center Göttingen, Göttingen, Germany

²Department of Medical Genetics, Ankara City Hospital, Ankara Yildirim Beyazit University, Ankara, Turkey

³Vanderbilt Genetics Institute, Department of Cell and Developmental Biology, Vanderbilt University Medical Cente, Nashville, United States of America

⁴Department of Biology, Concordia University, Montreal, Canada

⁵Department of Chemistry and Biochemistry, Concordia University, Montreal, Canada

⁶Stem Cell Unit, Department of Cardiology and Pneumology, University Medical Center Göttingen, Göttingen, Germany

⁷Biological and Medical Research Center (BMFZ), Genomics & Transcriptomics L, Medical Faculty and University Hospital Düsseldorf, Heinrich-Heine University, Düsseldorf, Germany

⁸Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich-Heine University, Düsseldorf, Germany

⁹Berlin Institute of Health at Charité-Universitätsmedizin Berlin, Berlin, Germany

¹⁰Department of Pediatric Hematology, Ankara Bilkent City Hospital, Ankara, Turkey

¹¹Division of Pediatric Neurology, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey

¹²Center for Pediatric and Adolescent Medicine, Department I, Heidelberg University, Heidelberg, Germany

Find articles by Cavdarli, B. in: JCI | PubMed | Google Scholar

¹Institute of Human Genetics, University Medical Center Göttingen, Göttingen, Germany

²Department of Medical Genetics, Ankara City Hospital, Ankara Yildirim Beyazit University, Ankara, Turkey

³Vanderbilt Genetics Institute, Department of Cell and Developmental Biology, Vanderbilt University Medical Cente, Nashville, United States of America

⁴Department of Biology, Concordia University, Montreal, Canada

⁵Department of Chemistry and Biochemistry, Concordia University, Montreal, Canada

⁶Stem Cell Unit, Department of Cardiology and Pneumology, University Medical Center Göttingen, Göttingen, Germany

⁷Biological and Medical Research Center (BMFZ), Genomics & Transcriptomics L, Medical Faculty and University Hospital Düsseldorf, Heinrich-Heine University, Düsseldorf, Germany

⁸Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich-Heine University, Düsseldorf, Germany

⁹Berlin Institute of Health at Charité-Universitätsmedizin Berlin, Berlin, Germany

¹⁰Department of Pediatric Hematology, Ankara Bilkent City Hospital, Ankara, Turkey

¹¹Division of Pediatric Neurology, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey

¹²Center for Pediatric and Adolescent Medicine, Department I, Heidelberg University, Heidelberg, Germany

Find articles by Nagai, T. in: JCI | PubMed | Google Scholar

¹Institute of Human Genetics, University Medical Center Göttingen, Göttingen, Germany

²Department of Medical Genetics, Ankara City Hospital, Ankara Yildirim Beyazit University, Ankara, Turkey

³Vanderbilt Genetics Institute, Department of Cell and Developmental Biology, Vanderbilt University Medical Cente, Nashville, United States of America

⁴Department of Biology, Concordia University, Montreal, Canada

⁵Department of Chemistry and Biochemistry, Concordia University, Montreal, Canada

⁶Stem Cell Unit, Department of Cardiology and Pneumology, University Medical Center Göttingen, Göttingen, Germany

⁷Biological and Medical Research Center (BMFZ), Genomics & Transcriptomics L, Medical Faculty and University Hospital Düsseldorf, Heinrich-Heine University, Düsseldorf, Germany

⁸Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich-Heine University, Düsseldorf, Germany

⁹Berlin Institute of Health at Charité-Universitätsmedizin Berlin, Berlin, Germany

¹⁰Department of Pediatric Hematology, Ankara Bilkent City Hospital, Ankara, Turkey

¹¹Division of Pediatric Neurology, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey

¹²Center for Pediatric and Adolescent Medicine, Department I, Heidelberg University, Heidelberg, Germany

Find articles by Milev, M. in: JCI | PubMed | Google Scholar

¹Institute of Human Genetics, University Medical Center Göttingen, Göttingen, Germany

²Department of Medical Genetics, Ankara City Hospital, Ankara Yildirim Beyazit University, Ankara, Turkey

³Vanderbilt Genetics Institute, Department of Cell and Developmental Biology, Vanderbilt University Medical Cente, Nashville, United States of America

⁴Department of Biology, Concordia University, Montreal, Canada

⁵Department of Chemistry and Biochemistry, Concordia University, Montreal, Canada

⁶Stem Cell Unit, Department of Cardiology and Pneumology, University Medical Center Göttingen, Göttingen, Germany

⁷Biological and Medical Research Center (BMFZ), Genomics & Transcriptomics L, Medical Faculty and University Hospital Düsseldorf, Heinrich-Heine University, Düsseldorf, Germany

⁸Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich-Heine University, Düsseldorf, Germany

⁹Berlin Institute of Health at Charité-Universitätsmedizin Berlin, Berlin, Germany

¹⁰Department of Pediatric Hematology, Ankara Bilkent City Hospital, Ankara, Turkey

¹¹Division of Pediatric Neurology, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey

¹²Center for Pediatric and Adolescent Medicine, Department I, Heidelberg University, Heidelberg, Germany

Find articles by Wolff, A. in: JCI | PubMed | Google Scholar |

¹Institute of Human Genetics, University Medical Center Göttingen, Göttingen, Germany

²Department of Medical Genetics, Ankara City Hospital, Ankara Yildirim Beyazit University, Ankara, Turkey

³Vanderbilt Genetics Institute, Department of Cell and Developmental Biology, Vanderbilt University Medical Cente, Nashville, United States of America

⁴Department of Biology, Concordia University, Montreal, Canada

⁵Department of Chemistry and Biochemistry, Concordia University, Montreal, Canada

⁶Stem Cell Unit, Department of Cardiology and Pneumology, University Medical Center Göttingen, Göttingen, Germany

⁷Biological and Medical Research Center (BMFZ), Genomics & Transcriptomics L, Medical Faculty and University Hospital Düsseldorf, Heinrich-Heine University, Düsseldorf, Germany

⁸Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich-Heine University, Düsseldorf, Germany

⁹Berlin Institute of Health at Charité-Universitätsmedizin Berlin, Berlin, Germany

¹⁰Department of Pediatric Hematology, Ankara Bilkent City Hospital, Ankara, Turkey

¹¹Division of Pediatric Neurology, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey

¹²Center for Pediatric and Adolescent Medicine, Department I, Heidelberg University, Heidelberg, Germany

Find articles by Mehranfar, M. in: JCI | PubMed | Google Scholar

¹Institute of Human Genetics, University Medical Center Göttingen, Göttingen, Germany

²Department of Medical Genetics, Ankara City Hospital, Ankara Yildirim Beyazit University, Ankara, Turkey

³Vanderbilt Genetics Institute, Department of Cell and Developmental Biology, Vanderbilt University Medical Cente, Nashville, United States of America

⁴Department of Biology, Concordia University, Montreal, Canada

⁵Department of Chemistry and Biochemistry, Concordia University, Montreal, Canada

⁶Stem Cell Unit, Department of Cardiology and Pneumology, University Medical Center Göttingen, Göttingen, Germany

⁷Biological and Medical Research Center (BMFZ), Genomics & Transcriptomics L, Medical Faculty and University Hospital Düsseldorf, Heinrich-Heine University, Düsseldorf, Germany

⁸Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich-Heine University, Düsseldorf, Germany

⁹Berlin Institute of Health at Charité-Universitätsmedizin Berlin, Berlin, Germany

¹⁰Department of Pediatric Hematology, Ankara Bilkent City Hospital, Ankara, Turkey

¹¹Division of Pediatric Neurology, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey

¹²Center for Pediatric and Adolescent Medicine, Department I, Heidelberg University, Heidelberg, Germany

Find articles by Schmidt, J. in: JCI | PubMed | Google Scholar

¹Institute of Human Genetics, University Medical Center Göttingen, Göttingen, Germany

²Department of Medical Genetics, Ankara City Hospital, Ankara Yildirim Beyazit University, Ankara, Turkey

³Vanderbilt Genetics Institute, Department of Cell and Developmental Biology, Vanderbilt University Medical Cente, Nashville, United States of America

⁴Department of Biology, Concordia University, Montreal, Canada

⁵Department of Chemistry and Biochemistry, Concordia University, Montreal, Canada

⁶Stem Cell Unit, Department of Cardiology and Pneumology, University Medical Center Göttingen, Göttingen, Germany

⁷Biological and Medical Research Center (BMFZ), Genomics & Transcriptomics L, Medical Faculty and University Hospital Düsseldorf, Heinrich-Heine University, Düsseldorf, Germany

⁸Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich-Heine University, Düsseldorf, Germany

⁹Berlin Institute of Health at Charité-Universitätsmedizin Berlin, Berlin, Germany

¹⁰Department of Pediatric Hematology, Ankara Bilkent City Hospital, Ankara, Turkey

¹¹Division of Pediatric Neurology, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey

¹²Center for Pediatric and Adolescent Medicine, Department I, Heidelberg University, Heidelberg, Germany

Find articles by Choudhary, D. in: JCI | PubMed | Google Scholar

¹Institute of Human Genetics, University Medical Center Göttingen, Göttingen, Germany

²Department of Medical Genetics, Ankara City Hospital, Ankara Yildirim Beyazit University, Ankara, Turkey

³Vanderbilt Genetics Institute, Department of Cell and Developmental Biology, Vanderbilt University Medical Cente, Nashville, United States of America

⁴Department of Biology, Concordia University, Montreal, Canada

⁵Department of Chemistry and Biochemistry, Concordia University, Montreal, Canada

⁶Stem Cell Unit, Department of Cardiology and Pneumology, University Medical Center Göttingen, Göttingen, Germany

⁷Biological and Medical Research Center (BMFZ), Genomics & Transcriptomics L, Medical Faculty and University Hospital Düsseldorf, Heinrich-Heine University, Düsseldorf, Germany

⁸Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich-Heine University, Düsseldorf, Germany

⁹Berlin Institute of Health at Charité-Universitätsmedizin Berlin, Berlin, Germany

¹⁰Department of Pediatric Hematology, Ankara Bilkent City Hospital, Ankara, Turkey

¹¹Division of Pediatric Neurology, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey

¹²Center for Pediatric and Adolescent Medicine, Department I, Heidelberg University, Heidelberg, Germany

Find articles by Gutiérrez-Gutiérrez, Ó. in: JCI | PubMed | Google Scholar

¹Institute of Human Genetics, University Medical Center Göttingen, Göttingen, Germany

²Department of Medical Genetics, Ankara City Hospital, Ankara Yildirim Beyazit University, Ankara, Turkey

³Vanderbilt Genetics Institute, Department of Cell and Developmental Biology, Vanderbilt University Medical Cente, Nashville, United States of America

⁴Department of Biology, Concordia University, Montreal, Canada

⁵Department of Chemistry and Biochemistry, Concordia University, Montreal, Canada

⁶Stem Cell Unit, Department of Cardiology and Pneumology, University Medical Center Göttingen, Göttingen, Germany

⁷Biological and Medical Research Center (BMFZ), Genomics & Transcriptomics L, Medical Faculty and University Hospital Düsseldorf, Heinrich-Heine University, Düsseldorf, Germany

⁸Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich-Heine University, Düsseldorf, Germany

⁹Berlin Institute of Health at Charité-Universitätsmedizin Berlin, Berlin, Germany

¹⁰Department of Pediatric Hematology, Ankara Bilkent City Hospital, Ankara, Turkey

¹¹Division of Pediatric Neurology, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey

¹²Center for Pediatric and Adolescent Medicine, Department I, Heidelberg University, Heidelberg, Germany

Find articles by Cyganek, L. in: JCI | PubMed | Google Scholar |

¹Institute of Human Genetics, University Medical Center Göttingen, Göttingen, Germany

²Department of Medical Genetics, Ankara City Hospital, Ankara Yildirim Beyazit University, Ankara, Turkey

³Vanderbilt Genetics Institute, Department of Cell and Developmental Biology, Vanderbilt University Medical Cente, Nashville, United States of America

⁴Department of Biology, Concordia University, Montreal, Canada

⁵Department of Chemistry and Biochemistry, Concordia University, Montreal, Canada

⁶Stem Cell Unit, Department of Cardiology and Pneumology, University Medical Center Göttingen, Göttingen, Germany

⁷Biological and Medical Research Center (BMFZ), Genomics & Transcriptomics L, Medical Faculty and University Hospital Düsseldorf, Heinrich-Heine University, Düsseldorf, Germany

⁸Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich-Heine University, Düsseldorf, Germany

⁹Berlin Institute of Health at Charité-Universitätsmedizin Berlin, Berlin, Germany

¹⁰Department of Pediatric Hematology, Ankara Bilkent City Hospital, Ankara, Turkey

¹¹Division of Pediatric Neurology, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey

¹²Center for Pediatric and Adolescent Medicine, Department I, Heidelberg University, Heidelberg, Germany

Find articles by Saint-Dic, D. in: JCI | PubMed | Google Scholar

¹Institute of Human Genetics, University Medical Center Göttingen, Göttingen, Germany

²Department of Medical Genetics, Ankara City Hospital, Ankara Yildirim Beyazit University, Ankara, Turkey

³Vanderbilt Genetics Institute, Department of Cell and Developmental Biology, Vanderbilt University Medical Cente, Nashville, United States of America

⁴Department of Biology, Concordia University, Montreal, Canada

⁵Department of Chemistry and Biochemistry, Concordia University, Montreal, Canada

⁶Stem Cell Unit, Department of Cardiology and Pneumology, University Medical Center Göttingen, Göttingen, Germany

⁷Biological and Medical Research Center (BMFZ), Genomics & Transcriptomics L, Medical Faculty and University Hospital Düsseldorf, Heinrich-Heine University, Düsseldorf, Germany

⁸Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich-Heine University, Düsseldorf, Germany

⁹Berlin Institute of Health at Charité-Universitätsmedizin Berlin, Berlin, Germany

¹⁰Department of Pediatric Hematology, Ankara Bilkent City Hospital, Ankara, Turkey

¹¹Division of Pediatric Neurology, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey

¹²Center for Pediatric and Adolescent Medicine, Department I, Heidelberg University, Heidelberg, Germany

Find articles by Zibat, A. in: JCI | PubMed | Google Scholar

¹Institute of Human Genetics, University Medical Center Göttingen, Göttingen, Germany

²Department of Medical Genetics, Ankara City Hospital, Ankara Yildirim Beyazit University, Ankara, Turkey

³Vanderbilt Genetics Institute, Department of Cell and Developmental Biology, Vanderbilt University Medical Cente, Nashville, United States of America

⁴Department of Biology, Concordia University, Montreal, Canada

⁵Department of Chemistry and Biochemistry, Concordia University, Montreal, Canada

⁶Stem Cell Unit, Department of Cardiology and Pneumology, University Medical Center Göttingen, Göttingen, Germany

⁷Biological and Medical Research Center (BMFZ), Genomics & Transcriptomics L, Medical Faculty and University Hospital Düsseldorf, Heinrich-Heine University, Düsseldorf, Germany

⁸Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich-Heine University, Düsseldorf, Germany

⁹Berlin Institute of Health at Charité-Universitätsmedizin Berlin, Berlin, Germany

¹⁰Department of Pediatric Hematology, Ankara Bilkent City Hospital, Ankara, Turkey

¹¹Division of Pediatric Neurology, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey

¹²Center for Pediatric and Adolescent Medicine, Department I, Heidelberg University, Heidelberg, Germany

Find articles by Köhrer, K. in: JCI | PubMed | Google Scholar

¹Institute of Human Genetics, University Medical Center Göttingen, Göttingen, Germany

²Department of Medical Genetics, Ankara City Hospital, Ankara Yildirim Beyazit University, Ankara, Turkey

³Vanderbilt Genetics Institute, Department of Cell and Developmental Biology, Vanderbilt University Medical Cente, Nashville, United States of America

⁴Department of Biology, Concordia University, Montreal, Canada

⁵Department of Chemistry and Biochemistry, Concordia University, Montreal, Canada

⁶Stem Cell Unit, Department of Cardiology and Pneumology, University Medical Center Göttingen, Göttingen, Germany

⁷Biological and Medical Research Center (BMFZ), Genomics & Transcriptomics L, Medical Faculty and University Hospital Düsseldorf, Heinrich-Heine University, Düsseldorf, Germany

⁸Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich-Heine University, Düsseldorf, Germany

⁹Berlin Institute of Health at Charité-Universitätsmedizin Berlin, Berlin, Germany

¹⁰Department of Pediatric Hematology, Ankara Bilkent City Hospital, Ankara, Turkey

¹¹Division of Pediatric Neurology, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey

¹²Center for Pediatric and Adolescent Medicine, Department I, Heidelberg University, Heidelberg, Germany

Find articles by Wollenweber, T. in: JCI | PubMed | Google Scholar

¹Institute of Human Genetics, University Medical Center Göttingen, Göttingen, Germany

²Department of Medical Genetics, Ankara City Hospital, Ankara Yildirim Beyazit University, Ankara, Turkey

³Vanderbilt Genetics Institute, Department of Cell and Developmental Biology, Vanderbilt University Medical Cente, Nashville, United States of America

⁴Department of Biology, Concordia University, Montreal, Canada

⁵Department of Chemistry and Biochemistry, Concordia University, Montreal, Canada

⁶Stem Cell Unit, Department of Cardiology and Pneumology, University Medical Center Göttingen, Göttingen, Germany

⁷Biological and Medical Research Center (BMFZ), Genomics & Transcriptomics L, Medical Faculty and University Hospital Düsseldorf, Heinrich-Heine University, Düsseldorf, Germany

⁸Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich-Heine University, Düsseldorf, Germany

⁹Berlin Institute of Health at Charité-Universitätsmedizin Berlin, Berlin, Germany

¹⁰Department of Pediatric Hematology, Ankara Bilkent City Hospital, Ankara, Turkey

¹¹Division of Pediatric Neurology, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey

¹²Center for Pediatric and Adolescent Medicine, Department I, Heidelberg University, Heidelberg, Germany

Find articles by Wieczorek, D. in: JCI | PubMed | Google Scholar

¹Institute of Human Genetics, University Medical Center Göttingen, Göttingen, Germany

²Department of Medical Genetics, Ankara City Hospital, Ankara Yildirim Beyazit University, Ankara, Turkey

³Vanderbilt Genetics Institute, Department of Cell and Developmental Biology, Vanderbilt University Medical Cente, Nashville, United States of America

⁴Department of Biology, Concordia University, Montreal, Canada

⁵Department of Chemistry and Biochemistry, Concordia University, Montreal, Canada

⁶Stem Cell Unit, Department of Cardiology and Pneumology, University Medical Center Göttingen, Göttingen, Germany

⁷Biological and Medical Research Center (BMFZ), Genomics & Transcriptomics L, Medical Faculty and University Hospital Düsseldorf, Heinrich-Heine University, Düsseldorf, Germany

⁸Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich-Heine University, Düsseldorf, Germany

⁹Berlin Institute of Health at Charité-Universitätsmedizin Berlin, Berlin, Germany

¹⁰Department of Pediatric Hematology, Ankara Bilkent City Hospital, Ankara, Turkey

¹¹Division of Pediatric Neurology, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey

¹²Center for Pediatric and Adolescent Medicine, Department I, Heidelberg University, Heidelberg, Germany

Find articles by Altmüller, J. in: JCI | PubMed | Google Scholar

¹Institute of Human Genetics, University Medical Center Göttingen, Göttingen, Germany

²Department of Medical Genetics, Ankara City Hospital, Ankara Yildirim Beyazit University, Ankara, Turkey

³Vanderbilt Genetics Institute, Department of Cell and Developmental Biology, Vanderbilt University Medical Cente, Nashville, United States of America

⁴Department of Biology, Concordia University, Montreal, Canada

⁵Department of Chemistry and Biochemistry, Concordia University, Montreal, Canada

⁶Stem Cell Unit, Department of Cardiology and Pneumology, University Medical Center Göttingen, Göttingen, Germany

⁷Biological and Medical Research Center (BMFZ), Genomics & Transcriptomics L, Medical Faculty and University Hospital Düsseldorf, Heinrich-Heine University, Düsseldorf, Germany

⁸Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich-Heine University, Düsseldorf, Germany

⁹Berlin Institute of Health at Charité-Universitätsmedizin Berlin, Berlin, Germany

¹⁰Department of Pediatric Hematology, Ankara Bilkent City Hospital, Ankara, Turkey

¹¹Division of Pediatric Neurology, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey

¹²Center for Pediatric and Adolescent Medicine, Department I, Heidelberg University, Heidelberg, Germany

Find articles by Borodina, T. in: JCI | PubMed | Google Scholar

¹Institute of Human Genetics, University Medical Center Göttingen, Göttingen, Germany

²Department of Medical Genetics, Ankara City Hospital, Ankara Yildirim Beyazit University, Ankara, Turkey

³Vanderbilt Genetics Institute, Department of Cell and Developmental Biology, Vanderbilt University Medical Cente, Nashville, United States of America

⁴Department of Biology, Concordia University, Montreal, Canada

⁵Department of Chemistry and Biochemistry, Concordia University, Montreal, Canada

⁶Stem Cell Unit, Department of Cardiology and Pneumology, University Medical Center Göttingen, Göttingen, Germany

⁷Biological and Medical Research Center (BMFZ), Genomics & Transcriptomics L, Medical Faculty and University Hospital Düsseldorf, Heinrich-Heine University, Düsseldorf, Germany

⁸Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich-Heine University, Düsseldorf, Germany

⁹Berlin Institute of Health at Charité-Universitätsmedizin Berlin, Berlin, Germany

¹⁰Department of Pediatric Hematology, Ankara Bilkent City Hospital, Ankara, Turkey

¹¹Division of Pediatric Neurology, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey

¹²Center for Pediatric and Adolescent Medicine, Department I, Heidelberg University, Heidelberg, Germany

Find articles by Kaçar, D. in: JCI | PubMed | Google Scholar

¹Institute of Human Genetics, University Medical Center Göttingen, Göttingen, Germany

²Department of Medical Genetics, Ankara City Hospital, Ankara Yildirim Beyazit University, Ankara, Turkey

³Vanderbilt Genetics Institute, Department of Cell and Developmental Biology, Vanderbilt University Medical Cente, Nashville, United States of America

⁴Department of Biology, Concordia University, Montreal, Canada

⁵Department of Chemistry and Biochemistry, Concordia University, Montreal, Canada

⁶Stem Cell Unit, Department of Cardiology and Pneumology, University Medical Center Göttingen, Göttingen, Germany

⁷Biological and Medical Research Center (BMFZ), Genomics & Transcriptomics L, Medical Faculty and University Hospital Düsseldorf, Heinrich-Heine University, Düsseldorf, Germany

⁸Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich-Heine University, Düsseldorf, Germany

⁹Berlin Institute of Health at Charité-Universitätsmedizin Berlin, Berlin, Germany

¹⁰Department of Pediatric Hematology, Ankara Bilkent City Hospital, Ankara, Turkey

¹¹Division of Pediatric Neurology, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey

¹²Center for Pediatric and Adolescent Medicine, Department I, Heidelberg University, Heidelberg, Germany

Find articles by Haliloğlu, G. in: JCI | PubMed | Google Scholar

¹Institute of Human Genetics, University Medical Center Göttingen, Göttingen, Germany

²Department of Medical Genetics, Ankara City Hospital, Ankara Yildirim Beyazit University, Ankara, Turkey

³Vanderbilt Genetics Institute, Department of Cell and Developmental Biology, Vanderbilt University Medical Cente, Nashville, United States of America

⁴Department of Biology, Concordia University, Montreal, Canada

⁵Department of Chemistry and Biochemistry, Concordia University, Montreal, Canada

⁶Stem Cell Unit, Department of Cardiology and Pneumology, University Medical Center Göttingen, Göttingen, Germany

⁷Biological and Medical Research Center (BMFZ), Genomics & Transcriptomics L, Medical Faculty and University Hospital Düsseldorf, Heinrich-Heine University, Düsseldorf, Germany

⁸Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich-Heine University, Düsseldorf, Germany

⁹Berlin Institute of Health at Charité-Universitätsmedizin Berlin, Berlin, Germany

¹⁰Department of Pediatric Hematology, Ankara Bilkent City Hospital, Ankara, Turkey

¹¹Division of Pediatric Neurology, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey

¹²Center for Pediatric and Adolescent Medicine, Department I, Heidelberg University, Heidelberg, Germany

Find articles by Li, Y. in: JCI | PubMed | Google Scholar

¹Institute of Human Genetics, University Medical Center Göttingen, Göttingen, Germany

²Department of Medical Genetics, Ankara City Hospital, Ankara Yildirim Beyazit University, Ankara, Turkey

³Vanderbilt Genetics Institute, Department of Cell and Developmental Biology, Vanderbilt University Medical Cente, Nashville, United States of America

⁴Department of Biology, Concordia University, Montreal, Canada

⁵Department of Chemistry and Biochemistry, Concordia University, Montreal, Canada

⁶Stem Cell Unit, Department of Cardiology and Pneumology, University Medical Center Göttingen, Göttingen, Germany

⁷Biological and Medical Research Center (BMFZ), Genomics & Transcriptomics L, Medical Faculty and University Hospital Düsseldorf, Heinrich-Heine University, Düsseldorf, Germany

⁸Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich-Heine University, Düsseldorf, Germany

⁹Berlin Institute of Health at Charité-Universitätsmedizin Berlin, Berlin, Germany

¹⁰Department of Pediatric Hematology, Ankara Bilkent City Hospital, Ankara, Turkey

¹¹Division of Pediatric Neurology, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey

¹²Center for Pediatric and Adolescent Medicine, Department I, Heidelberg University, Heidelberg, Germany

Find articles by Thiel, C. in: JCI | PubMed | Google Scholar

¹Institute of Human Genetics, University Medical Center Göttingen, Göttingen, Germany

²Department of Medical Genetics, Ankara City Hospital, Ankara Yildirim Beyazit University, Ankara, Turkey

³Vanderbilt Genetics Institute, Department of Cell and Developmental Biology, Vanderbilt University Medical Cente, Nashville, United States of America

⁴Department of Biology, Concordia University, Montreal, Canada

⁵Department of Chemistry and Biochemistry, Concordia University, Montreal, Canada

⁶Stem Cell Unit, Department of Cardiology and Pneumology, University Medical Center Göttingen, Göttingen, Germany

⁷Biological and Medical Research Center (BMFZ), Genomics & Transcriptomics L, Medical Faculty and University Hospital Düsseldorf, Heinrich-Heine University, Düsseldorf, Germany

⁸Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich-Heine University, Düsseldorf, Germany

⁹Berlin Institute of Health at Charité-Universitätsmedizin Berlin, Berlin, Germany

¹⁰Department of Pediatric Hematology, Ankara Bilkent City Hospital, Ankara, Turkey

¹¹Division of Pediatric Neurology, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey

¹²Center for Pediatric and Adolescent Medicine, Department I, Heidelberg University, Heidelberg, Germany

Find articles by Sacher, M. in: JCI | PubMed | Google Scholar

¹Institute of Human Genetics, University Medical Center Göttingen, Göttingen, Germany

²Department of Medical Genetics, Ankara City Hospital, Ankara Yildirim Beyazit University, Ankara, Turkey

³Vanderbilt Genetics Institute, Department of Cell and Developmental Biology, Vanderbilt University Medical Cente, Nashville, United States of America

⁴Department of Biology, Concordia University, Montreal, Canada

⁵Department of Chemistry and Biochemistry, Concordia University, Montreal, Canada

⁶Stem Cell Unit, Department of Cardiology and Pneumology, University Medical Center Göttingen, Göttingen, Germany

⁷Biological and Medical Research Center (BMFZ), Genomics & Transcriptomics L, Medical Faculty and University Hospital Düsseldorf, Heinrich-Heine University, Düsseldorf, Germany

⁸Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich-Heine University, Düsseldorf, Germany

⁹Berlin Institute of Health at Charité-Universitätsmedizin Berlin, Berlin, Germany

¹⁰Department of Pediatric Hematology, Ankara Bilkent City Hospital, Ankara, Turkey

¹¹Division of Pediatric Neurology, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey

¹²Center for Pediatric and Adolescent Medicine, Department I, Heidelberg University, Heidelberg, Germany

Find articles by Knapik, E. in: JCI | PubMed | Google Scholar

¹Institute of Human Genetics, University Medical Center Göttingen, Göttingen, Germany

²Department of Medical Genetics, Ankara City Hospital, Ankara Yildirim Beyazit University, Ankara, Turkey

³Vanderbilt Genetics Institute, Department of Cell and Developmental Biology, Vanderbilt University Medical Cente, Nashville, United States of America

⁴Department of Biology, Concordia University, Montreal, Canada

⁵Department of Chemistry and Biochemistry, Concordia University, Montreal, Canada

⁶Stem Cell Unit, Department of Cardiology and Pneumology, University Medical Center Göttingen, Göttingen, Germany

⁷Biological and Medical Research Center (BMFZ), Genomics & Transcriptomics L, Medical Faculty and University Hospital Düsseldorf, Heinrich-Heine University, Düsseldorf, Germany

⁸Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich-Heine University, Düsseldorf, Germany

⁹Berlin Institute of Health at Charité-Universitätsmedizin Berlin, Berlin, Germany

¹⁰Department of Pediatric Hematology, Ankara Bilkent City Hospital, Ankara, Turkey

¹¹Division of Pediatric Neurology, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey

¹²Center for Pediatric and Adolescent Medicine, Department I, Heidelberg University, Heidelberg, Germany

Find articles by Yigit, G. in: JCI | PubMed | Google Scholar

¹Institute of Human Genetics, University Medical Center Göttingen, Göttingen, Germany

²Department of Medical Genetics, Ankara City Hospital, Ankara Yildirim Beyazit University, Ankara, Turkey

³Vanderbilt Genetics Institute, Department of Cell and Developmental Biology, Vanderbilt University Medical Cente, Nashville, United States of America

⁴Department of Biology, Concordia University, Montreal, Canada

⁵Department of Chemistry and Biochemistry, Concordia University, Montreal, Canada

⁶Stem Cell Unit, Department of Cardiology and Pneumology, University Medical Center Göttingen, Göttingen, Germany

⁷Biological and Medical Research Center (BMFZ), Genomics & Transcriptomics L, Medical Faculty and University Hospital Düsseldorf, Heinrich-Heine University, Düsseldorf, Germany

⁸Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich-Heine University, Düsseldorf, Germany

⁹Berlin Institute of Health at Charité-Universitätsmedizin Berlin, Berlin, Germany

¹⁰Department of Pediatric Hematology, Ankara Bilkent City Hospital, Ankara, Turkey

¹¹Division of Pediatric Neurology, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey

¹²Center for Pediatric and Adolescent Medicine, Department I, Heidelberg University, Heidelberg, Germany

Find articles by Wollnik, B. in: JCI | PubMed | Google Scholar