Genome Sequencing for Cases Unsolved by Exome Sequencing: Identifying a Single-Exon Deletion in TBCK in a Case from 30 Years Ago

Maureen Jacob

1   Institute of Human Genetics, Klinikum rechts der Isar, Technical University of Munich, School of Medicine and Health, Munich, Germany

2   Bavarian Genomes Network for Rare Disorders

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1   Institute of Human Genetics, Klinikum rechts der Isar, Technical University of Munich, School of Medicine and Health, Munich, Germany

2   Bavarian Genomes Network for Rare Disorders

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Stephanie Andres

3   Center of Human Genetics and Laboratory Diagnostics, Martinsried, Germany

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Matias Wagner

1   Institute of Human Genetics, Klinikum rechts der Isar, Technical University of Munich, School of Medicine and Health, Munich, Germany

2   Bavarian Genomes Network for Rare Disorders

4   Dr. v. Hauner Children's Hospital, Department of Pediatric Neurology and Developmental Medicine, LMU - University of Munich, Munich, Germany

5   Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany

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Elisabeth Graf

1   Institute of Human Genetics, Klinikum rechts der Isar, Technical University of Munich, School of Medicine and Health, Munich, Germany

2   Bavarian Genomes Network for Rare Disorders

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Riccardo Berutti

1   Institute of Human Genetics, Klinikum rechts der Isar, Technical University of Munich, School of Medicine and Health, Munich, Germany

2   Bavarian Genomes Network for Rare Disorders

5   Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany

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Erik Tilch

1   Institute of Human Genetics, Klinikum rechts der Isar, Technical University of Munich, School of Medicine and Health, Munich, Germany

2   Bavarian Genomes Network for Rare Disorders

5   Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany

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Martin Pavlov

1   Institute of Human Genetics, Klinikum rechts der Isar, Technical University of Munich, School of Medicine and Health, Munich, Germany

2   Bavarian Genomes Network for Rare Disorders

5   Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany

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Katharina Mayerhanser

1   Institute of Human Genetics, Klinikum rechts der Isar, Technical University of Munich, School of Medicine and Health, Munich, Germany

2   Bavarian Genomes Network for Rare Disorders

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Julia Hoefele

1   Institute of Human Genetics, Klinikum rechts der Isar, Technical University of Munich, School of Medicine and Health, Munich, Germany

2   Bavarian Genomes Network for Rare Disorders

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Thomas Meitinger

1   Institute of Human Genetics, Klinikum rechts der Isar, Technical University of Munich, School of Medicine and Health, Munich, Germany

2   Bavarian Genomes Network for Rare Disorders

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Juliane Winkelmann

1   Institute of Human Genetics, Klinikum rechts der Isar, Technical University of Munich, School of Medicine and Health, Munich, Germany

2   Bavarian Genomes Network for Rare Disorders

5   Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany

6   Munich Cluster for Systems Neurology (SyNergy), Munich, Germany

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Theresa Brunet

1   Institute of Human Genetics, Klinikum rechts der Isar, Technical University of Munich, School of Medicine and Health, Munich, Germany

2   Bavarian Genomes Network for Rare Disorders

4   Dr. v. Hauner Children's Hospital, Department of Pediatric Neurology and Developmental Medicine, LMU - University of Munich, Munich, Germany

› Author Affiliations

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