Amber Hildreth
University of California, San Diego
15 Papers
12 Citations
Amber Hildreth is an academic researcher from University of California, San Diego. The author has contributed to research in topics: Medicine & Liver transplantation. The author has an hindex of 6, co-authored 11 publications. Previous affiliations of Amber Hildreth include University of Washington & Boston Children's Hospital.
Chat about Author
Papers
Rapid whole-genome sequencing decreases infant morbidity and cost of hospitalization.
Lauge Farnaes,Lauge Farnaes,Amber Hildreth,Amber Hildreth,Nathaly M. Sweeney,Nathaly M. Sweeney,Michelle M. Clark,Shimul Chowdhury,Shareef Nahas,Julie A. Cakici,Wendy Benson,Robert H. Kaplan,Richard Kronick,Matthew N. Bainbridge,Jennifer Friedman,Jennifer Friedman,Jeffrey J. Gold,Jeffrey J. Gold,Yan Ding,Narayanan Veeraraghavan,David Dimmock,Stephen F. Kingsmore +21 more
TL;DR: A retrospective cohort study of acutely ill inpatient infants in a regional children’s hospital from July 2016-March 2017 reports improved outcomes and net healthcare savings, and suggests rapid sequencing should be more widely adopted for critically ill infants.
A Randomized, Controlled Trial of the Analytic and Diagnostic Performance of Singleton and Trio, Rapid Genome and Exome Sequencing in Ill Infants.
Stephen F. Kingsmore,Julie A. Cakici,Julie A. Cakici,Michelle M. Clark,Mary Gaughran,Michele Feddock,Sergey Batalov,Matthew N. Bainbridge,Jeanne Carroll,Jeanne Carroll,Sara A. Caylor,Christina Clarke,Yan Ding,Katarzyna A. Ellsworth,Lauge Farnaes,Lauge Farnaes,Amber Hildreth,Amber Hildreth,Amber Hildreth,Charlotte A. Hobbs,Kiely N. James,Cyrielle Kint,Jerica Lenberg,Shareef Nahas,Lance Prince,Iris Reyes,Lisa Salz,Erica Sanford,Erica Sanford,Peter Schols,Nathaly M. Sweeney,Nathaly M. Sweeney,Mari Tokita,Narayanan Veeraraghavan,Kelly Watkins,Kristen Wigby,Kristen Wigby,Terence C. Wong,Shimul Chowdhury,Meredith S. Wright,David Dimmock,Zaira Bezares,Cinnamon S. Bloss,Joshua J.A. Braun,Carlos Diaz,Dana Mashburn,Dorjee Tamang,Daniken Orendain,Jenni Friedman,Joe Gleeson,Jaime Barea,George Chiang,Casey Cohenmeyer,Nicole G. Coufal,Marva Evans,Jose Honold,Raymond Hovey,Amy S. Kimball,Brian Lane,Crystal Le,Jennie Le,Sandra Leibel,Laurel Moyer,Patrick Mulrooney,Daeheon Oh,Paulina Ordonez,Albert Oriol,Maria Ortiz-Arechiga,Laura Puckett,Mark Speziale,Denise Suttner,Lucitia Van Der Kraan,Gail Knight,Charles Sauer,Richard S. Song,Sarah White,Audra Wise,Catherine Yamada +77 more
TL;DR: In conclusion, rapid genomic sequencing can be performed as a first-tier diagnostic test in inpatient infants and urWGS had the shortest time to result, which was important in unstable infants, and those in whom a genetic diagnosis was likely to impact immediate management.
319
Diagnosis of genetic diseases in seriously ill children by rapid whole-genome sequencing and automated phenotyping and interpretation
Michelle M. Clark,Amber Hildreth,Amber Hildreth,Amber Hildreth,Sergey Batalov,Yan Ding,Shimul Chowdhury,Kelly Watkins,Katarzyna A. Ellsworth,Brandon Camp,Cyrielle Kint,Calum Yacoubian,Lauge Farnaes,Lauge Farnaes,Matthew N. Bainbridge,Curtis Beebe,Joshua J.A. Braun,Margaret Bray,Jeanne Carroll,Jeanne Carroll,Julie A. Cakici,Sara A. Caylor,Christina Clarke,Mitchell Creed,Jennifer Friedman,Jennifer Friedman,Alison Frith,Richard Gain,Mary Gaughran,Shauna George,Sheldon Gilmer,Joseph G. Gleeson,Joseph G. Gleeson,Jeremy Gore,Haiying Li Grunenwald,Raymond Hovey,Marie L. Janes,Kejia Lin,Paul D. McDonagh,Kyle McBride,Patrick Mulrooney,Shareef Nahas,Daeheon Oh,Albert Oriol,Laura Puckett,Zia Rady,Martin G. Reese,Julie Ryu,Julie Ryu,Lisa Salz,Erica Sanford,Erica Sanford,Lawrence Stewart,Nathaly M. Sweeney,Nathaly M. Sweeney,Mari Tokita,Luca Van Der Kraan,Sarah White,Kristen Wigby,Kristen Wigby,Brett Williams,Terence C. Wong,Meredith S. Wright,Catherine Yamada,Peter Schols,John Reynders,Kevin Hall,David Dimmock,Narayanan Veeraraghavan,Thomas Defay,Stephen F. Kingsmore +70 more
TL;DR: A platform for population-scale, provisional diagnosis of genetic diseases with automated phenotyping and interpretation and could aid clinicians to expedite an accurate genetic disease diagnosis, potentially hastening lifesaving changes to patient care.
261
Decreased Pregnane X Receptor Expression in Children with Active Crohn’s Disease
Valentina Shakhnovich,Carrie A. Vyhlidal,Craig A. Friesen,Amber Hildreth,Vivekanand Singh,James F. Daniel,Gregory L. Kearns,J. Steven Leeder +7 more
TL;DR: The findings suggest that inflammation has the potential to influence expression of genes, and potentially intestinal proteins, important to drug disposition and response in children with Crohn’s disease.
Rapid whole-genome sequencing identifies a novel homozygous NPC1 variant associated with Niemann-Pick type C1 disease in a 7-week-old male with cholestasis.
Amber Hildreth,Kristen Wigby,Shimul Chowdhury,Shareef Nahas,Jaime Barea,Paulina Ordonez,Sergey Batalov,David Dimmock,Stephen F. Kingsmore +8 more
- 01 Sep 2017
TL;DR: A 7-wk-old infant who was admitted with neonatal cholestasis, and who was diagnosed with a novel homozygous stop-gain variant in NPC1 by rapid whole-genome sequencing (WGS), prompted initiation of targeted therapy.