Zobrazeno 1 - 9
of 9
pro vyhledávání: '"Suzanne Herd"'
Autor:
Lauren E Amos, Suzanne Herd, Sarah E Soden, Margaret Gibson, Sara Durham, Emily G. Farrow, Shannon L. Carpenter, Adam Walter, Neil A. Miller, Byunggil Yoo
Publikováno v:
Haemophilia. 25
Autor:
Shelby Neal, Annapoorna Nair, Adam Walter, Tomi Pastinen, Margaret Gibson, Mary Elfrink, Tricia Zion, Nyshele Posey, Laura Puckett, Suzanne Herd, Brittany McDonald, Jeffrey N. Johnston, Warren A. Cheung, Emily G. Farrow, Neil A. Miller, Isabelle Thiffault, Ana S.A. Cohen
Publikováno v:
Molecular Genetics and Metabolism
Autor:
Mary Elfrink, Rebecca Biswell, Adam Walter, Elin Grundberg, Nyshele Posey, Laura Puckett, Shelby Neal, Tricia Zion, Brittany McDonald, Suzanne Herd, Tomi Pastinen, Emily G. Farrow, Margaret Gibson, Daniel Louiselle, Warren A. Cheung, Alexandra Greathous, Neil A. Miller, Ana S.A. Cohen, Isabelle Thiffault, Jeffrey N. Johnston, Bradley Belden
Publikováno v:
Molecular Genetics and Metabolism. 132:S285
Autor:
Lee Zellmer, Josh E Petrikin, Anne Holmes, David Dimmock, Serge Batalov, Narayanan Veeraraghavan, Laurie D. Smith, Carol J. Saunders, Emily G. Farrow, Nathaly M. Sweeney, Isabelle Thiffault, Suzanne Herd, Stephen F. Kingsmore, Steven J. Leeder, Neil A. Miller, Julie A. Cakici, Laurel K. Willig, Michelle M. Clark
Publikováno v:
NPJ Genomic Medicine
npj Genomic Medicine, Vol 3, Iss 1, Pp 1-11 (2018)
npj Genomic Medicine, Vol 3, Iss 1, Pp 1-11 (2018)
Genetic disorders are a leading cause of morbidity and mortality in infants in neonatal and pediatric intensive care units (NICU/PICU). While genomic sequencing is useful for genetic disease diagnosis, results are usually reported too late to guide i
Autor:
Julie A. Cakici, Darrell L. Dinwiddie, Laurel K. Willig, Margaret Gibson, J. Steven Leeder, Josh E Petrikin, Stephen F. Kingsmore, Amanda K. Riffel, Andrea Gaedigk, Suzanne Herd, Greyson P Twist, Emily G. Farrow, Deendayal Dinakarpandian, Sarah E Soden, Neil A. Miller
Publikováno v:
NPJ Genomic Medicine
An important component of precision medicine—the use of whole-genome sequencing (WGS) to guide lifelong healthcare—is electronic decision support to inform drug choice and dosing. To achieve this, automated identification of genetic variation in
Autor:
Julie A. Cakici, Laurel K. Willig, Carol J Saunders, Adam Walter, Severine Catreux, Laurie D. Smith, Isabelle Thiffault, Lisa Ann Krivohlavek, Josh E Petrikin, Mike Ruehle, Suzanne Herd, Darrell L. Dinwiddie, Margaret Gibson, Tyler Marrs, Stephen F. Kingsmore, Sarah E Soden, Shane Corder, Byunggil Yoo, Greyson P Twist, Emily G. Farrow, Neil A. Miller
Publikováno v:
Genome Medicine
While the cost of whole genome sequencing (WGS) is approaching the realm of routine medical tests, it remains too tardy to help guide the management of many acute medical conditions. Rapid WGS is imperative in light of growing evidence of its utility
Autor:
Sarah L Tsai, Carol J Saunders, Julie A. Cakici, Greyson P Twist, Isabelle Thiffault, Emily G. Farrow, Laurel K. Willig, Shannon L. Carpenter, Howard W. Kilbride, Ryan McDonough, Mitchell Creed, Ryan T. Fischer, Josh E Petrikin, J Allyson Hays, Jamie L Rosterman, Aaron Noll, Mark A. Clements, Laurie D. Smith, Sarah E Soden, Stephen F. Kingsmore, Suzanne Herd, Lee Zellmer, Neil A. Miller, Patria M Alba
Publikováno v:
The Lancet. Respiratory medicine. 3(5)
Summary Background Genetic disorders and congenital anomalies are the leading causes of infant mortality. Diagnosis of most genetic diseases in neonatal and paediatric intensive care units (NICU and PICU) is not sufficiently timely to guide acute cli
Autor:
Laurel K. Willig, Ann C. Modrcin, Zhaohui Ye, Nicole P. Safina, Darrell L. Dinwiddie, Aaron Noll, Carol J Saunders, Xuan Yuan, Josh E Petrikin, Sarah S. Nyp, Robert A. Brodsky, Britton Zuccarelli, Mitchell Creed, Jean Baptiste LePichon, Neil A. Miller, Laurie D. Smith, Isabelle Thiffault, Lee Zellmer, Suzanne Herd, Andrea M. Atherton, Sarah E Soden, Bryce A. Heese, Ahmed Abdelmoity, Greyson P Twist, Emily G. Farrow, Stephen F. Kingsmore, Ingrid A. Larson
Publikováno v:
Science Translational Medicine. 6
Neurodevelopmental disorders (NDDs) affect more than 3% of children and are attributable to single-gene mutations at more than 1000 loci. Traditional methods yield molecular diagnoses in less than one-half of children with NDD. Whole-genome sequencin
Autor:
Neil A. Miller, Lauren E Amos, Shannon L. Carpenter, Margaret Gibson, Sara Streeter, Suzanne Herd, Byunggil Yoo, Stephen F. Kingsmore, Emily G. Farrow, Sarah E Soden
Publikováno v:
Blood. 124:5034-5034
Introduction: For individuals with hemophilia, mutational analysis could represent a novel method of diagnosis. In addition, mutational analysis ideally would be available to better predict disease manifestations such as inhibitor development and to