Showing 1–7 of 7 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 | | 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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Recommendations for the integration of genomics into clinical practice
- Sarah Bowdin
- , Adel Gilbert
- , Emma Bedoukian
- , Christopher Carew
- , Margaret P. Adam
- , John Belmont
- , Barbara Bernhardt
- , Leslie Biesecker
- , Hans T. Bjornsson
- , Miriam Blitzer
- , Lisa C.A. D’Alessandro
- , Matthew A. Deardorff
- , Laurie Demmer
- , Alison Elliott
- , Gerald L. Feldman
- , Ian A. Glass
- , Gail Herman
- , Lucia Hindorff
- , Fuki Hisama
- , Louanne Hudgins
- , A. Micheil Innes
- , Laird Jackson
- , Gail Jarvik
- , Raymond Kim
- , Bruce Korf
- , David H. Ledbetter
- , Mindy Li
- , Eriskay Liston
- , Christian Marshall
- , Livija Medne
- , M. Stephen Meyn
- , Nasim Monfared
- , Cynthia Morton
- , John J. Mulvihill
- , Sharon E. Plon
- , Heidi Rehm
- , Amy Roberts
- , Cheryl Shuman
- , Nancy B. Spinner
- , D. James Stavropoulos
- , Kathleen Valverde
- , Darrel J. Waggoner
- , Alisha Wilkens
- , Ronald D. Cohn
- & Ian D. Krantz
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Research |
DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct facies
- Jianling Ji
- , Hane Lee
- , Bob Argiropoulos
- , Naghmeh Dorrani
- , John Mann
- , Julian A Martinez-Agosto
- , Natalia Gomez-Ospina
- , Natalie Gallant
- , Jonathan A Bernstein
- , Louanne Hudgins
- , Leah Slattery
- , Bertrand Isidor
- , Cédric Le Caignec
- , Albert David
- , Ewa Obersztyn
- , Barbara Wiśniowiecka-Kowalnik
- , Michelle Fox
- , Joshua L Deignan
- , Eric Vilain
- , Emily Hendricks
- , Margaret Horton Harr
- , Sarah E Noon
- , Jessi R Jackson
- , Alisha Wilkens
- , Ghayda Mirzaa
- , Noriko Salamon
- , Jeff Abramson
- , Elaine H Zackai
- , Ian Krantz
- , A Micheil Innes
- , Stanley F Nelson
- , Wayne W Grody
- & Fabiola Quintero-Rivera
