C. Gillies

发表

A reference panel of 64,976 haplotypes for genotype imputation

Alan M. Kwong, Shane A. McCarthy, Warren W. Kretzschmar, 2015, Nature Genetics.

Predicting Intensive Care Transfers and Other Unforeseen Events: Analytic Model Validation Study and Comparison to Existing Methods (Preprint)

S. Kronick, J. McSparron, K. Ward, 2020 .

Validation and comparison of PICTURE analytic and Epic Deterioration Index for COVID-19

S. Kronick, K. Ward, M. Sjoding, 2020, medRxiv.

A reference panel of 64,976 haplotypes for genotype imputation

Laura J. Scott, He Zhang, Gonçalo Abecasis, 2015, bioRxiv.

An eQTL landscape of kidney tissue in human nephrotic syndrome

Paul J. Hoover, Shuqiang Li, N. Hacohen, 2018, bioRxiv.

An eQTL landscape of kidney tissue in human nephrotic syndrome

Paul J. Hoover, Shuqiang Li, N. Hacohen, 2018, bioRxiv.

APOL1-associated glomerular disease among African-American children: a collaboration of the Chronic Kidney Disease in Children (CKiD) and Nephrotic Syndrome Study Network (NEPTUNE) cohorts

Catherine C. Robertson, C. Winkler, M. Kretzler, 2016, Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association.

Genetic regulation of the human plasma proteome in 54,306 UK Biobank participants

Benjamin B. Sun, M. McCarthy, H. Kang, 2022, bioRxiv.

Original Articles Central blood pressures in early chronic kidney disease: an analysis of CARTaGENE

Catherine C. Robertson, M. Kretzler, C. Robertson, 2017 .

Exome-wide Association Study Identifies GREB1L Mutations in Congenital Kidney Malformations.

D. Goldstein, S. Mane, G. Ardissino, 2017, American journal of human genetics.

A Multilevel Bayesian Approach to Improve Effect Size Estimation in Regression Modeling of Metabolomics Data Utilizing Imputation with Uncertainty

Christopher E Gillies, Theodore S Jennaro, Michael A Puskarich, 2020, Metabolites.

Pretreatment Acetyl-Carnitine Levels Predict Mortality Benefit from L-Carnitine Treatment in Sepsis: A Pharmacometabolomics Based Clinical Trial Enrichment Strategy

C. Evans, A. Karnovsky, K. Stringer, 2020 .

Genetic Drivers of Kidney Defects in the DiGeorge Syndrome

Craig S. Wong, E. Zackai, H. Hakonarson, 2017, The New England journal of medicine.

Evaluating Mendelian nephrotic syndrome genes for evidence for risk alleles or oligogenicity that explain heritability

Catherine C. Robertson, M. Kretzler, E. Otto, 2017, Pediatric Nephrology.

Evaluating Mendelian nephrotic syndrome genes for evidence of risk alleles or oligogenicity that explain heritability

Catherine C. Robertson, H. Kang, M. Kretzler, 2016, bioRxiv.

Using Population Genetics to Interrogate the Monogenic Nephrotic Syndrome Diagnosis in a Case Cohort.

Catherine C. Robertson, H. Kang, M. Kretzler, 2016, Journal of the American Society of Nephrology : JASN.

tarSVM: Improving the accuracy of variant calls derived from microfluidic PCR-based targeted next generation sequencing using a support vector machine

Catherine C. Robertson, H. Kang, C. Winkler, 2016, BMC Bioinformatics.

Risk alleles in Mendelian NS genes 2

Catherine C. Robertson, H. Kang, M. Kretzler, 2016 .

Whole Exome Sequencing Reveals Novel PHEX Splice Site Mutations in Patients with Hypophosphatemic Rickets

V. Vega-Warner, E. Otto, M. Sampson, 2015, PloS one.

Pharmacometabolomics identifies candidate predictor metabolites of an L‐carnitine treatment mortality benefit in septic shock

Charles R. Evans, A. Karnovsky, K. Stringer, 2021, medRxiv.

Transethnic, Genome-Wide Analysis Reveals Immune-Related Risk Alleles and Phenotypic Correlates in Pediatric Steroid-Sensitive Nephrotic Syndrome.

P. Amouyel, E. Letouzé, M. Kretzler, 2018, Journal of the American Society of Nephrology : JASN.

Integrative Genomics Identifies Novel Associations with APOL1 Risk Genotypes in Black NEPTUNE Subjects.

Catherine C. Robertson, V. Nair, M. Kretzler, 2016, Journal of the American Society of Nephrology : JASN.

Exome sequencing of 628,388 individuals identifies common and rare variant associations with clonal hematopoiesis phenotypes

J. Marchini, G. Atwal, Y. Houvras, 2022, medRxiv.

Breath analysis for detection and trajectory monitoring of acute respiratory distress syndrome in swine

K. Ward, M. Sjoding, K. Stringer, 2021, ERJ Open Research.

Rapid breath analysis for acute respiratory distress syndrome diagnostics using a portable two-dimensional gas chromatography device

R. Hyzy, K. Ward, M. Sjoding, 2019, Analytical and Bioanalytical Chemistry.

Genomic Mismatch at LIMS1 Locus and Kidney Allograft Rejection

H. Snieder, I. Ionita-Laza, V. D’Agati, 2019, The New England journal of medicine.

Erratum to: Evaluating Mendelian nephrotic syndrome genes for evidence for risk alleles or oligogenicity that explain heritability

Catherine C. Robertson, M. Kretzler, V. Vega-Warner, 2017, Pediatric Nephrology.

NPHS2 V260E Is a Frequent Cause of Steroid-Resistant Nephrotic Syndrome in Black South African Children

C. Winkler, H. Coovadia, V. Vega-Warner, 2018, Kidney international reports.

Exome-wide Association Study Identifies GREB1L Mutations in Congenital Kidney Malformations.

D. Goldstein, S. Mane, G. Ardissino, 2017, American journal of human genetics.

Disruption of the exocyst induces podocyte loss and dysfunction

J. Lipschutz, D. Fermin, M. Sampson, 2019, The Journal of Biological Chemistry.

Using l‐Carnitine as a Pharmacologic Probe of the Interpatient and Metabolic Variability of Sepsis

Charles R. Evans, A. Karnovsky, K. Stringer, 2020, Pharmacotherapy.

An investigation of APOL1 risk genotypes and preterm birth in African American population cohorts

Catherine C. Robertson, K. Reidy, M. Sampson, 2016, Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association.

Demonstrating the Consequences of Learning Missingness Patterns in Early Warning Systems for Preventative Health Care: A Novel Simulation and Solution

S. Ansari, C. E. Gillies, D. F. Taylor, 2020, medRxiv.

Deep learning to detect acute respiratory distress syndrome on chest radiographs: a retrospective study with external validation

J. McSparron, K. Ward, M. Sjoding, 2021, The Lancet. Digital health.

Predicting Intensive Care Transfers and Other Unforeseen Events: Analytic Model Validation Study and Comparison to Existing Methods

S. Kronick, J. McSparron, K. Ward, 2021, JMIR Medical Informatics.

Narrow-sense heritability estimation of complex traits using identity-by-descent information

Ross M. Fraser, Alan M. Kwong, Shane A. McCarthy, 2017, bioRxiv.

Erratum : Exome-wide Association Study Identifies GREB1L Mutations in Congenital Kidney Malformations (The American Journal of Human Genetics (2017) 101(5) (789–802) (S0002929717303877) (10.1016/j.ajhg.2017.09.018))

D. Goldstein, S. Mane, G. Ardissino, 2017 .

Narrow-sense heritability estimation of complex traits using identity-by-descent information

Ross M. Fraser, Alan M. Kwong, Shane A. McCarthy, 2018, Heredity.