T. McGregor

发表

Deep phenotyping of a healthy human HAO1 knockout informs therapeutic development for primary hyperoxaluria type 1

D. MacArthur, John Wright, J. Lieske, 2019, bioRxiv.

Phenotype risk scores identify patients with unrecognized Mendelian disease patterns

Joshua C. Denny, Lisa Bastarache, Wei-Qi Wei, 2018, Science.

Recurrent deletions and reciprocal duplications of 10q11.21q11.23 including CHAT and SLC18A3 are likely mediated by complex low‐copy repeats

Stephanie E. Vallee, J. Rosenfeld, L. Shaffer, 2012, Human mutation.

Mapping the incidentalome: estimating incidental findings generated through clinical pharmacogenomics testing

Joshua C. Denny, Ellen Wright Clayton, Sara L. Van Driest, 2012, Genetics in Medicine.

Efficacy and safety of cyclic pyranopterin monophosphate substitution in severe molybdenum cofactor deficiency type A: a prospective cohort study

F. Wong, J. Christodoulou, T. Derks, 2015, The Lancet.

Idiopathic subglottic stenosis is associated with activation of the inflammatory IL‐17A/IL‐23 axis

J. Netterville, C. Stratton, J. Gaddy, 2016, The Laryngoscope.

Novel B3GALTL mutations in classic Peters plus syndrome and lack of mutations in a large cohort of patients with similar phenotypes

D. Bick, S. Wallace, T. Mcgregor, 2014, Clinical genetics.

Molecular analysis of idiopathic subglottic stenosis for Mycobacterium species

J. Netterville, C. Stratton, J. Gaddy, 2016, The Laryngoscope.

Temporal changes in genetic admixture are linked to heterozygosity and health diagnoses in humans

D. Roden, J. Denny, T. Edwards, 2019, bioRxiv.

PharmGKB summary: very important pharmacogene information for MT-RNR1

Julia M. Barbarino, R. Altman, T. Klein, 2016, Pharmacogenetics and genomics.

Endpoints for Clinical Trials in Primary Hyperoxaluria.

W. Lowther, J. Lieske, A. Thompson, 2020, Clinical journal of the American Society of Nephrology : CJASN.

Genome-Wide Association Study of Serum Creatinine Levels during Vancomycin Therapy

Dana C. Crawford, Erica A. Bowton, Dan M. Roden, 2015, PloS one.

Lumasiran, an RNAi Therapeutic for Primary Hyperoxaluria Type 1.

J. Lieske, D. Magen, M. Sweetser, 2021, The New England journal of medicine.

Characterising a healthy adult with a rare HAO1 knockout to support a therapeutic strategy for primary hyperoxaluria

D. Lawlor, D. MacArthur, John Wright, 2020, eLife.

A safety and efficacy study of lumasiran, an investigational RNA interference (RNAi) therapeutic, in adult and pediatric patients with primary hyperoxaluria type 1

P. Haslett, J. Lieske, D. Magen, 2019, European Urology Supplements.

MP12-14 SAFETY AND EFFICACY STUDY OF LUMASIRAN, AN INVESTIGATIONAL RNA INTERFERENCE (RNAI) THERAPEUTIC, IN ADULT AND PEDIATRIC PATIENTS WITH PRIMARY HYPEROXALURIA TYPE 1 (PH1)

P. Haslett, J. Lieske, D. Magen, 2019, Journal of Urology.

Clinical heterogeneity of mitochondrial NAD kinase deficiency caused by a NADK2 start loss variant

Amy K. Robertson, D. Cooper, S. Ferdinandusse, 2018, American journal of medical genetics. Part A.

Efficacy and safety of lumasiran for infants and young children with primary hyperoxaluria type 1: 12-month analysis of the phase 3 ILLUMINATE-B trial

D. Magen, M. Sweetser, Y. Frishberg, 2022, Pediatric Nephrology.

Phase 3 trial of lumasiran for primary hyperoxaluria type 1: A new RNAi therapeutic in infants and young children.

D. Magen, Y. Frishberg, T. Mcgregor, 2021, Genetics in medicine : official journal of the American College of Medical Genetics.

Attitudes of Clinicians Following Large-Scale Pharmacogenomics Implementation

Joshua C. Denny, Dan M. Roden, Jonathan S. Schildcrout, 2015, The Pharmacogenomics Journal.

Electronic Health Record-Based Predictive Models for Acute Kidney Injury Screening in Pediatric Inpatients

Jana K. Shirey-Rice, Lixin Chen, S. V. Van Driest, 2017, Pediatric Research.

Pharmacogenetics in clinical pediatrics: challenges and strategies.

S. V. Van Driest, Sara L Van Driest, Tracy L McGregor, 2013, Personalized medicine.

Cicatricial Alopecia Research Foundation meeting, May 2016: Progress towards the diagnosis, treatment and cure of primary cicatricial alopecias

R. Sivamani, J. Sundberg, A. Christiano, 2018, Experimental dermatology.

Acute Kidney Injury Incidence in Noncritically Ill Hospitalized Children, Adolescents, and Young Adults: A Retrospective Observational Study.

Jana K. Shirey-Rice, Lixin Chen, S. V. Van Driest, 2016, American journal of kidney diseases : the official journal of the National Kidney Foundation.

Acute kidney injury risk-based screening in pediatric inpatients: A pragmatic randomized trial

Jana K. Shirey-Rice, Asli O. Weitkamp, G. Bernard, 2019, Pediatric Research.

Consanguinity Mapping of Congenital Heart Disease in a South Indian Population

Richard D. Friedman, T. Mcgregor, D. Sexton, 2010, PloS one.

Inclusion of Pediatric Samples in an Opt‐Out Biorepository Linking DNA to De‐Identified Medical Records: Pediatric BioVU

D M Roden, D. Roden, E. Bowton, 2013, Clinical pharmacology and therapeutics.

Opioid Use After Cardiac Surgery in Children With Down Syndrome*

P. Kannankeril, Anushi Shah, S. V. Van Driest, 2013, Pediatric critical care medicine : a journal of the Society of Critical Care Medicine and the World Federation of Pediatric Intensive and Critical Care Societies.

An Evolutionary Genomic Approach to Identify Genes Involved in Human Birth Timing

Leena Peltonen, Edward Kuczynski, Scott Doniger, 2011, PLoS genetics.

Primate-specific evolution of noncoding element insertion into PLA2G4C and human preterm birth

Justin C. Fay, L. Peltonen, I. Borecki, 2010, BMC Medical Genomics.

Evidence suggesting digenic inheritance of Waardenburg syndrome type II with ocular albinism

T. Mcgregor, E. Spector, P. Chiang, 2009, American journal of medical genetics. Part A.

Lumasiran for Advanced Primary Hyperoxaluria Type 1: Phase 3 ILLUMINATE-C Trial.

J. Lieske, D. Magen, I. Bhan, 2022, American journal of kidney diseases : the official journal of the National Kidney Foundation.

Phase 1/2 Study of Lumasiran for Treatment of Primary Hyperoxaluria Type 1

P. Haslett, J. Lieske, D. Magen, 2021, Clinical journal of the American Society of Nephrology : CJASN.

Randomized Clinical Trial on the Long-Term Efficacy and Safety of Lumasiran in Patients With Primary Hyperoxaluria Type 1

J. Lieske, D. Magen, M. Sweetser, 2021, Kidney international reports.

LB002ILLUMINATE-A, A PHASE 3 STUDY OF LUMASIRAN, AN INVESTIGATIONAL RNAI THERAPEUTIC, IN CHILDREN AND ADULTS WITH PRIMARY HYPEROXALURIA TYPE 1 (PH1)

J. Lieske, D. Magen, Y. Frishberg, 2020, Nephrology Dialysis Transplantation.

Common polymorphisms in human lysyl oxidase genes are not associated with the adolescent idiopathic scoliosis phenotype

L. Muglia, J. Morcuende, C. Wise, 2011, BMC Medical Genetics.

Management Principles for Acute Illness in Patients With Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency

R. Hamid, K. Dipple, S. Berry, 2020, Pediatrics.