Genetics in Medicine Open (Jan 2024)
P183: Genome sequencing increases the diagnostic yield in exome-negative individuals with rare genetic disorders
- Swetha Ramadesikan,
- Caitlyn Colwell,
- Mohammad Marhabaie,
- Leeran Dublin-Ryan,
- Iftekhar Showpnil,
- Umamaheswaran Gurusamy,
- Jesse Hunter,
- Allison Daley,
- Elizabeth Varga,
- Marco Leung,
- Rolf Stottmann,
- Bimal Chaudhari,
- Scott Hickey,
- Peter White,
- Daniel Koboldt,
- Richard Wilson
Affiliations
- Swetha Ramadesikan
- Steve and Cindy Rasmussen Institute for Genomic Medicine at Nationwide Children’s Hospital, Columbus, OH
- Caitlyn Colwell
- Steve and Cindy Rasmussen Institute for Genomic Medicine at Nationwide Children’s Hospital, Columbus, OH
- Mohammad Marhabaie
- Steve and Cindy Rasmussen Institute for Genomic Medicine at Nationwide Children’s Hospital, Columbus, OH
- Leeran Dublin-Ryan
- Steve and Cindy Rasmussen Institute for Genomic Medicine at Nationwide Children’s Hospital, Columbus, OH
- Iftekhar Showpnil
- Steve and Cindy Rasmussen Institute for Genomic Medicine at Nationwide Children’s Hospital, Columbus, OH
- Umamaheswaran Gurusamy
- Steve and Cindy Rasmussen Institute for Genomic Medicine at Nationwide Children’s Hospital, Columbus, OH
- Jesse Hunter
- Steve and Cindy Rasmussen Institute for Genomic Medicine at Nationwide Children’s Hospital, Columbus, OH, Department of Pediatrics at The Ohio State University College of Medicine, Columbus, OH, Department of Pathology at The Ohio State University College of Medicine, Columbus, OH
- Allison Daley
- Steve and Cindy Rasmussen Institute for Genomic Medicine at Nationwide Children’s Hospital, Columbus, OH
- Elizabeth Varga
- Steve and Cindy Rasmussen Institute for Genomic Medicine at Nationwide Children’s Hospital, Columbus, OH
- Marco Leung
- Steve and Cindy Rasmussen Institute for Genomic Medicine at Nationwide Children’s Hospital, Columbus, OH, Department of Pediatrics at The Ohio State University College of Medicine, Columbus, OH, Department of Pathology at The Ohio State University College of Medicine, Columbus, OH
- Rolf Stottmann
- Steve and Cindy Rasmussen Institute for Genomic Medicine at Nationwide Children’s Hospital, Columbus, OH, Department of Pediatrics at The Ohio State University College of Medicine, Columbus, OH
- Bimal Chaudhari
- Steve and Cindy Rasmussen Institute for Genomic Medicine at Nationwide Children’s Hospital, Columbus, OH, Department of Pediatrics at The Ohio State University College of Medicine, Columbus, OH, Department of Biomedical Informatics at The Ohio State University College of Medicine, Columbus, OH, Division of Neonatology, Nationwide Children's Hospital, Columbus, OH, Division of Genetics and Genomic Medicine, Nationwide Children's Hospital, Columbus, OH
- Scott Hickey
- Department of Pediatrics at The Ohio State University College of Medicine, Columbus, OH, Division of Genetics and Genomic Medicine, Nationwide Children's Hospital, Columbus, OH
- Peter White
- Steve and Cindy Rasmussen Institute for Genomic Medicine at Nationwide Children’s Hospital, Columbus, OH, Department of Pediatrics at The Ohio State University College of Medicine, Columbus, OH
- Daniel Koboldt
- Steve and Cindy Rasmussen Institute for Genomic Medicine at Nationwide Children’s Hospital, Columbus, OH, Department of Pediatrics at The Ohio State University College of Medicine, Columbus, OH
- Richard Wilson
- Steve and Cindy Rasmussen Institute for Genomic Medicine at Nationwide Children’s Hospital, Columbus, OH, Department of Pediatrics at The Ohio State University College of Medicine, Columbus, OH
- Journal volume & issue
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Vol. 2
p. 101080