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 | 368 | 2018 |
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 | 275 | 2019 |
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 | 244 | 2019 |
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 | 38 | 2019 |
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 | 23 | 2016 |
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 | 22 | 2017 |
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 | 5 | 2023 |
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 | 5 | 2017 |
Biallelic mismatch repair deficiency in an adolescent female A Hildreth, MA Valasek, I Thung, T Savides, M Sivagnanam, ... Case Reports in Genetics 2018, 2018 | 4 | 2018 |
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 | 2 | 2023 |
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 | 2 | 2018 |
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 |