Showing 1–9 of 9 results
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Amendments and Corrections |
Correction: Novel findings with reassessment of exome data: implications for validation testing and interpretation of genomic data
- Kristin McDonald Gibson
- , Addie Nesbitt
- , Kajia Cao
- , Zhenming Yu
- , Elizabeth Denenberg
- , Elizabeth DeChene
- , Qiaoning Guan
- , Elizabeth Bhoj
- , Xiangdong Zhou
- , Bo Zhang
- , Chao Wu
- , Holly Dubbs
- , Alisha Wilkens
- , Livija Medne
- , Emma Bedoukian
- , Peter S White
- , Jeffrey Pennington
- , Minjie Luo
- , Laura Conlin
- , Dimitri Monos
- , Mahdi Sarmady
- , Eric Marsh
- , Elaine Zackai
- , Nancy Spinner
- , Ian Krantz
- , Matt Deardorff
- & Avni Santani
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Novel findings with reassessment of exome data: implications for validation testing and interpretation of genomic data
- Kristin McDonald Gibson
- , Addie Nesbitt
- , Kajia Cao
- , Zhenming Yu
- , Elizabeth Denenberg
- , Elizabeth DeChene
- , Qiaoning Guan
- , Elizabeth Bhoj
- , Xiangdong Zhou
- , Bo Zhang
- , Chao Wu
- , Holly Dubbs
- , Alisha Wilkens
- , Livija Medne
- , Emma Bedoukian
- , Peter S White
- , Jeffrey Pennington
- , Minjie Lou
- , Laura Conlin
- , Dimitri Monos
- , Mahdi Sarmady
- , Eric Marsh
- , Elaine Zackai
- , Nancy Spinner
- , Ian Krantz
- , Matt Deardorff
- & Avni Santani
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Amendments and Corrections |
Correction: Novel findings with reassessment of exome data: implications for validation testing and interpretation of genomic data
- Kristin McDonald Gibson
- , Addie Nesbitt
- , Kajia Cao
- , Zhenming Yu
- , Elizabeth Denenberg
- , Elizabeth DeChene
- , Qiaoning Guan
- , Elizabeth Bhoj
- , Xiangdong Zhou
- , Bo Zhang
- , Chao Wu
- , Holly Dubbs
- , Alisha Wilkens
- , Livija Medne
- , Emma Bedoukian
- , Peter S White
- , Jeffrey Pennington
- , Minjie Lou
- , Laura Conlin
- , Dimitri Monos
- , Mahdi Sarmady
- , Eric Marsh
- , Elaine Zackai
- , Nancy Spinner
- , Ian Krantz
- , Matt Deardorff
- & Avni Santani
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Research |
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Research |
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Research | | Open
Utility and limitations of exome sequencing as a genetic diagnostic tool for children with hearing loss
- Sarah Sheppard
- , Sawona Biswas
- , Mindy H. Li
- , Vijayakumar Jayaraman
- , Ian Slack
- , Edward J. Romasko
- , Ariella Sasson
- , Joshua Brunton
- , Ramakrishnan Rajagopalan
- , Mahdi Sarmady
- , Jenica L. Abrudan
- , Sowmya Jairam
- , Elizabeth T. DeChene
- , Xiahoan Ying
- , Jiwon Choi
- , Alisha Wilkens
- , Sarah E. Raible
- , Maria I. Scarano
- , Avni Santani
- , Jeffrey W. Pennington
- , Minjie Luo
- , Laura K. Conlin
- , Batsal Devkota
- , Matthew C. Dulik
- , Nancy B. Spinner
- & Ian D. Krantz
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Research |
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Research |
Characterizing reduced coverage regions through comparison of exome and genome sequencing data across 10 centers
- Rashesh V Sanghvi
- , Christian J Buhay
- , Bradford C Powell
- , Ellen A Tsai
- , Michael O Dorschner
- , Celine S Hong
- , Matthew S Lebo
- , Ariella Sasson
- , David S Hanna
- , Sean McGee
- , Kevin M Bowling
- , Gregory M Cooper
- , David E Gray
- , Robert J Lonigro
- , Andrew Dunford
- , Christine A Brennan
- , Carrie Cibulskis
- , Kimberly Walker
- , Mauricio O Carneiro
- , Joshua Sailsbery
- , Lucia A Hindorff
- , Dan R Robinson
- , Avni Santani
- , Mahdi Sarmady
- , Heidi L Rehm
- , Leslie G Biesecker
- , Deborah A Nickerson
- , Carolyn M Hutter
- , Levi Garraway
- , Donna M Muzny
- & Nikhil Wagle