Takip et
Amber Hildreth
Amber Hildreth
Fellow, University of Washington
seattlechildrens.org üzerinde doğrulanmış e-posta adresine sahip
Başlık
Alıntı yapanlar
Alıntı yapanlar
Yıl
Rapid whole-genome sequencing decreases infant morbidity and cost of hospitalization
L Farnaes, A Hildreth, NM Sweeney, MM Clark, S Chowdhury, S Nahas, ...
NPJ genomic medicine 3 (1), 10, 2018
3652018
A randomized, controlled trial of the analytic and diagnostic performance of singleton and trio, rapid genome and exome sequencing in ill infants
SF Kingsmore, JA Cakici, MM Clark, M Gaughran, M Feddock, S Batalov, ...
The American Journal of Human Genetics 105 (4), 719-733, 2019
2742019
Diagnosis of genetic diseases in seriously ill children by rapid whole-genome sequencing and automated phenotyping and interpretation
MM Clark, A Hildreth, S Batalov, Y Ding, S Chowdhury, K Watkins, ...
Science translational medicine 11 (489), eaat6177, 2019
2442019
Biallelic mutations in valyl-tRNA synthetase gene VARS are associated with a progressive neurodevelopmental epileptic encephalopathy
J Friedman, DE Smith, MY Issa, V Stanley, R Wang, MI Mendes, ...
Nature communications 10 (1), 707, 2019
382019
Severe acute respiratory syndrome coronavirus-2 infection in children with liver transplant and native liver disease: an international observational registry study
M Kehar, NH Ebel, VL Ng, JER Baquero, DH Leung, V Slowik, ...
Journal of pediatric gastroenterology and nutrition 72 (6), 807-814, 2021
32*2021
Decreased pregnane X receptor expression in children with active Crohn’s disease
V Shakhnovich, C Vyhlidal, C Friesen, A Hildreth, V Singh, J Daniel, ...
Drug Metabolism and Disposition 44 (7), 1066-1069, 2016
232016
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
A Hildreth, K Wigby, S Chowdhury, S Nahas, J Barea, P Ordonez, ...
Molecular Case Studies 3 (5), a001966, 2017
222017
Diagnosis of genetic diseases in seriously ill children by rapid whole-genome sequencing and automated phenotyping and interpretation. Sci Transl Med. 2019; 11 (489): eaat6177
MM Clark, A Hildreth, S Batalov, Y Ding, S Chowdhury, K Watkins
PubMed: https://pubmed. ncbi. nlm. nih. gov/31019026, 0
13
Rapid whole-genome sequencing decreases infant morbidity and cost of hospitalization. NPJ Genom Med. 2018; 3: 10
L Farnaes, A Hildreth, NM Sweeney, MM Clark, S Chowdhury, S Nahas, ...
12
Ultra‐rapid whole genome sequencing: A paradigm shift in the pre‐transplant evaluation of neonatal acute liver failure
WS Thompson, JR Greenmyer, BC Lanpher, JE Brumbaugh, ...
Liver Transplantation 29 (1), 118-121, 2023
52023
A novel compound-heterozygous epithelial cell adhesion molecule mutation in tufting enteropathy
V Shakhnovich, D Dinwiddie, A Hildreth, T Attard, S Kingsmore
Journal of pediatric gastroenterology and nutrition 64 (1), e14-e16, 2017
52017
Biallelic mismatch repair deficiency in an adolescent female
A Hildreth, MA Valasek, I Thung, T Savides, M Sivagnanam, ...
Case Reports in Genetics 2018, 2018
42018
Distinguishing autoimmune hepatitis from steatohepatitis in adolescents with obesity and positive screening alanine aminotransferase
A Hildreth, WL Shapiro, BM Lowenthal, A Goyal, JB Schwimmer
JPGN reports 4 (2), e292, 2023
22023
Rapid whole genome sequencing decreases morbidity and healthcare cost of hospitalized infants
L Farnaes, A Hildreth, NM Sweeney, MM Clark, S Chowdhury, S Nahas, ...
bioRxiv, 253534, 2018
22018
Letter to the editor in response to: A case of pediatric alcohol‐associated hepatitis evaluated for liver transplant listing
A Hildreth, JB Schwimmer
JPGN Reports, 0
1
Reply to letter to the editor in response to: Distinguishing autoimmune hepatitis from steatohepatitis in adolescents with obesity and positive screening alanine aminotransferase
A Hildreth, JB Schwimmer
JPGN Reports, 2024
2024
A neonatal case of vascular ring with Alagille syndrome
PS Lee, JA Silva Sepulveda, M Del Campo, SL Leibel, A Hildreth, ...
SAGE Open Medical Case Reports 11, 2050313X231197321, 2023
2023
Gallbladder abnormalities as an early indicator of metachromatic leukodystrophy (MLD): Use of electronic health records in a large pediatric hospital to aid early diagnosis
L Tobin, C Chanson, A Tom, A Hildreth, M Arenchild, CA Hobbs
Molecular Genetics and Metabolism 138 (2), 107336, 2023
2023
The impact of SARS-CoV2 infection in pediatric liver transplant recipients: an international observational registry study
N Ebel, M Kehar, V Ng, A Sehgal, D Leung, A Shah, N Gupta, ...
Transplantation, 157-158, 2021
2021
Hepatopulmonary Syndrome in an Adolescent With Insidious Hypoxia and Small Intrahepatic Portal Venous Shunts: Posttransplant Benefit From Sildenafil
V Slowik, A Hildreth, MC Pacheco, LS Finn, J King, G Shivaram, M Files, ...
Pediatric and Developmental Pathology 23 (6), 467-471, 2020
2020
Sistem, işlemi şu anda gerçekleştiremiyor. Daha sonra yeniden deneyin.
Makaleler 1–20