Marni J Falk
Marni J Falk
1Division of Human Genetics, Department of Pediatrics, The Children’s Hospital of Philadelphia and The Perelman School of Medicine, Philadelphia, PA 19104 USA
2Division of Metabolic Disease, Department of Pediatrics, The Children’s Hospital of Philadelphia and The Perelman School of Medicine, Philadelphia, PA 19104 USA
11ARC 1002C, 3615 Civic Center Blvd, Philadelphia, PA 19104 USA
1,2,11,✉,
Dong Li
Dong Li
3The Center for Applied Genomics, Abramson Research Center, The Children’s Hospital of Philadelphia, 3615 Civic Center Blvd., Philadelphia, PA 19104 USA
3,
Xiaowu Gai
Xiaowu Gai
4Department of Molecular Pharmacology and Therapeutics, Loyola University Stritch School of Medicine, Maywood, IL 60153 USA
4,
Elizabeth McCormick
Elizabeth McCormick
1Division of Human Genetics, Department of Pediatrics, The Children’s Hospital of Philadelphia and The Perelman School of Medicine, Philadelphia, PA 19104 USA
2Division of Metabolic Disease, Department of Pediatrics, The Children’s Hospital of Philadelphia and The Perelman School of Medicine, Philadelphia, PA 19104 USA
1,2,
Emily Place
Emily Place
1Division of Human Genetics, Department of Pediatrics, The Children’s Hospital of Philadelphia and The Perelman School of Medicine, Philadelphia, PA 19104 USA
2Division of Metabolic Disease, Department of Pediatrics, The Children’s Hospital of Philadelphia and The Perelman School of Medicine, Philadelphia, PA 19104 USA
10Department of Ophthalmology, Ocular Genomics Institute, Massachusetts Eye and Ear Infirmary, Harvard Medical School, Boston, MA USA
1,2,10,
Francesco M Lasorsa
Francesco M Lasorsa
5CNR Institute of Biomembranes and Bioenergetics, 70125 Bari, Italy
5,
Frederick G Otieno
Frederick G Otieno
3The Center for Applied Genomics, Abramson Research Center, The Children’s Hospital of Philadelphia, 3615 Civic Center Blvd., Philadelphia, PA 19104 USA
3,
Cuiping Hou
Cuiping Hou
3The Center for Applied Genomics, Abramson Research Center, The Children’s Hospital of Philadelphia, 3615 Civic Center Blvd., Philadelphia, PA 19104 USA
3,
Cecilia E Kim
Cecilia E Kim
3The Center for Applied Genomics, Abramson Research Center, The Children’s Hospital of Philadelphia, 3615 Civic Center Blvd., Philadelphia, PA 19104 USA
3,
Nada Abdel-Magid
Nada Abdel-Magid
3The Center for Applied Genomics, Abramson Research Center, The Children’s Hospital of Philadelphia, 3615 Civic Center Blvd., Philadelphia, PA 19104 USA
3,
Lyam Vazquez
Lyam Vazquez
3The Center for Applied Genomics, Abramson Research Center, The Children’s Hospital of Philadelphia, 3615 Civic Center Blvd., Philadelphia, PA 19104 USA
3,
Frank D Mentch
Frank D Mentch
3The Center for Applied Genomics, Abramson Research Center, The Children’s Hospital of Philadelphia, 3615 Civic Center Blvd., Philadelphia, PA 19104 USA
3,
Rosetta Chiavacci
Rosetta Chiavacci
3The Center for Applied Genomics, Abramson Research Center, The Children’s Hospital of Philadelphia, 3615 Civic Center Blvd., Philadelphia, PA 19104 USA
3,
Jinlong Liang
Jinlong Liang
6BGI-Shenzhen, Shenzhen, 518083 China
6,
Xuanzhu Liu
Xuanzhu Liu
6BGI-Shenzhen, Shenzhen, 518083 China
6,
Hui Jiang
Hui Jiang
6BGI-Shenzhen, Shenzhen, 518083 China
6,
Giulia Giannuzzi
Giulia Giannuzzi
7Department of Biosciences, Biotechnologies and Biopharmaceutics, University of Bari, Via Orabona 4, 70125 Bari, Italy
7,
Eric D Marsh
Eric D Marsh
8Division of Pediatric Neurology, Departments of Pediatrics and Neurology, The Children’s Hospital of Philadelphia and The Perelman School of Medicine, Philadelphia, PA 19104 USA
8,
Yiran Guo
Yiran Guo
3The Center for Applied Genomics, Abramson Research Center, The Children’s Hospital of Philadelphia, 3615 Civic Center Blvd., Philadelphia, PA 19104 USA
3,
Lifeng Tian
Lifeng Tian
3The Center for Applied Genomics, Abramson Research Center, The Children’s Hospital of Philadelphia, 3615 Civic Center Blvd., Philadelphia, PA 19104 USA
3,
Ferdinando Palmieri
Ferdinando Palmieri
5CNR Institute of Biomembranes and Bioenergetics, 70125 Bari, Italy
7Department of Biosciences, Biotechnologies and Biopharmaceutics, University of Bari, Via Orabona 4, 70125 Bari, Italy
5,7,
Hakon Hakonarson
Hakon Hakonarson
1Division of Human Genetics, Department of Pediatrics, The Children’s Hospital of Philadelphia and The Perelman School of Medicine, Philadelphia, PA 19104 USA
3The Center for Applied Genomics, Abramson Research Center, The Children’s Hospital of Philadelphia, 3615 Civic Center Blvd., Philadelphia, PA 19104 USA
9Division of Pulmonary Medicine, The Children’s Hospital of Philadelphia, Philadelphia, PA 19104 USA
1,3,9,✉
1Division of Human Genetics, Department of Pediatrics, The Children’s Hospital of Philadelphia and The Perelman School of Medicine, Philadelphia, PA 19104 USA
2Division of Metabolic Disease, Department of Pediatrics, The Children’s Hospital of Philadelphia and The Perelman School of Medicine, Philadelphia, PA 19104 USA
3The Center for Applied Genomics, Abramson Research Center, The Children’s Hospital of Philadelphia, 3615 Civic Center Blvd., Philadelphia, PA 19104 USA
4Department of Molecular Pharmacology and Therapeutics, Loyola University Stritch School of Medicine, Maywood, IL 60153 USA
5CNR Institute of Biomembranes and Bioenergetics, 70125 Bari, Italy
6BGI-Shenzhen, Shenzhen, 518083 China
7Department of Biosciences, Biotechnologies and Biopharmaceutics, University of Bari, Via Orabona 4, 70125 Bari, Italy
8Division of Pediatric Neurology, Departments of Pediatrics and Neurology, The Children’s Hospital of Philadelphia and The Perelman School of Medicine, Philadelphia, PA 19104 USA
9Division of Pulmonary Medicine, The Children’s Hospital of Philadelphia, Philadelphia, PA 19104 USA
10Department of Ophthalmology, Ocular Genomics Institute, Massachusetts Eye and Ear Infirmary, Harvard Medical School, Boston, MA USA
11ARC 1002C, 3615 Civic Center Blvd, Philadelphia, PA 19104 USA
Innsbruck, Austria
Pullman, Washington USA
Received 2013 Aug 5; Revised 2013 Nov 11; Accepted 2013 Dec 4; Collection date 2014.
© SSIEM and Springer-Verlag Berlin Heidelberg 2014