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Sediment Deposition Following Construction of a Breakwater Harbor: Point Judith Harbor of Refuge, Rhode Island, USA

Journal of marine science and engineering, 2020-11, Vol.8 (11), p.863

2020

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A Recurrent PDGFRB Mutation Causes Familial Infantile Myofibromatosis

American journal of human genetics, 2013-06, Vol.92 (6), p.996-1000

2013

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BET inhibitor resistance emerges from leukaemia stem cells

Nature (London), 2015-09, Vol.525 (7570), p.538-542

2015

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Rosuvastatin and Cardiovascular Events in Patients Undergoing Hemodialysis

The New England journal of medicine, 2009-04, Vol.360 (14), p.1395-1407

2009

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Phenotype and mutation expansion of the PTPN23 associated disorder characterized by neurodevelopmental delay and structural brain abnormalities

European journal of human genetics : EJHG, 2020-01, Vol.28 (1), p.76-87

2020

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Model Organisms Facilitate Rare Disease Diagnosis and Therapeutic Research

Genetics (Austin), 2017-09, Vol.207 (1), p.9-27

2017

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Protocol for a Prospective, Observational Cost-effectiveness Analysis of Returning Secondary Findings of Genome Sequencing for Unexplained Suspected Genetic Conditions

Clinical therapeutics, 2023-08, Vol.45 (8), p.702-709

2023

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Standards for the classification of pathogenicity of somatic variants in cancer (oncogenicity): Joint recommendations of Clinical Genome Resource (ClinGen), Cancer Genomics Consortium (CGC), and Variant Interpretation for Cancer Consortium (VICC)

Genetics in medicine, 2022-05, Vol.24 (5), p.986-998

2022

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A common flanking variant is associated with enhanced stability of the FGF14-SCA27B repeat locus

Nature genetics, 2024-07, Vol.56 (7), p.1366-1370

2024

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Skeletal muscle regeneration via the chemical induction and expansion of myogenic stem cells in situ or in vitro

Nature biomedical engineering, 2021-08, Vol.5 (8), p.864

2021

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Predictors of Atrial Arrhythmias After Device Closure of Secundum Type Atrial Septal Defects in Adults

The American journal of cardiology, 2008-03, Vol.101 (5), p.683-687

2008

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Preclinical target validation using patient-derived cells

Nature reviews. Drug discovery, 2015-03, Vol.14 (3), p.149-150

2015

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The relationship between maternal adiposity during pregnancy and fetal kidney development and kidney function in infants: the Gomeroi gaaynggal study

Physiological reports, 2019-09, Vol.7 (17), p.e14227-n/a

2019

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Epidemiology of electrical injury: Differences between low- and high-voltage electrical injuries during a 7-year study period in South Korea

Scandinavian journal of surgery, 2015-06, Vol.104 (2), p.108-114

2015

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Identification of a novel synaptic protein, TMTC3, involved in periventricular nodular heterotopia with intellectual disability and epilepsy

Human molecular genetics, 2017-11, Vol.26 (21), p.4278-4289

2017

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Coq3 and Coq4 Define a Polypeptide Complex in Yeast Mitochondria for the Biosynthesis of Coenzyme Q

The Journal of biological chemistry, 2005-05, Vol.280 (21), p.20231-20238

2005

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Comparing genome sequencing technologies to improve rare disease diagnostics: a protocol for the evaluation of a pilot project, Genome-wide Sequencing Ontario

CMAJ open, 2022-04, Vol.10 (2), p.E460-E465

2022

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A first-in-class pan-lysyl oxidase inhibitor impairs stromal remodeling and enhances gemcitabine response and survival in pancreatic cancer

Nature cancer, 2023-09, Vol.4 (9), p.1326

2023

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Determinants of bioactivity of oxidized phospholipids. Specific oxidized fatty acyl groups at the sn-2 position

Arteriosclerosis, thrombosis, and vascular biology, 2000-10, Vol.20 (10), p.2248

2000

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Effective dosing regimen of 1-aminobenzotriazole for inhibition of antipyrine clearance in guinea pigs and mice using serial sampling

Drug metabolism and disposition, 2004-10, Vol.32 (10), p.1092

2004

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The phenotype of Floating-Harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP

Orphanet journal of rare diseases, 2013-04, Vol.8 (1), p.63-63

2013

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Sediment Deposition Following Construction of a Breakwater Harbor: Point Judith Harbor of Refuge, Rhode Island, USA

A Recurrent PDGFRB Mutation Causes Familial Infantile Myofibromatosis

BET inhibitor resistance emerges from leukaemia stem cells

Rosuvastatin and Cardiovascular Events in Patients Undergoing Hemodialysis

Phenotype and mutation expansion of the PTPN23 associated disorder characterized by neurodevelopmental delay and structural brain abnormalities

Model Organisms Facilitate Rare Disease Diagnosis and Therapeutic Research

Protocol for a Prospective, Observational Cost-effectiveness Analysis of Returning Secondary Findings of Genome Sequencing for Unexplained Suspected Genetic Conditions

Mutations in STAMBP, encoding a deubiquitinating enzyme, cause microcephaly-capillary malformation syndrome

Standards for the classification of pathogenicity of somatic variants in cancer (oncogenicity): Joint recommendations of Clinical Genome Resource (ClinGen), Cancer Genomics Consortium (CGC), and Variant Interpretation for Cancer Consortium (VICC)

A common flanking variant is associated with enhanced stability of the FGF14-SCA27B repeat locus

Skeletal muscle regeneration via the chemical induction and expansion of myogenic stem cells in situ or in vitro

Joubert Syndrome in French Canadians and Identification of Mutations in CEP104

Predictors of Atrial Arrhythmias After Device Closure of Secundum Type Atrial Septal Defects in Adults

Repeated dosing of ABT-102, a potent and selective TRPV1 antagonist, enhances TRPV1-mediated analgesic activity in rodents, but attenuates antagonist-induced hyperthermia

Preclinical target validation using patient-derived cells

The relationship between maternal adiposity during pregnancy and fetal kidney development and kidney function in infants: the Gomeroi gaaynggal study

Epidemiology of electrical injury: Differences between low- and high-voltage electrical injuries during a 7-year study period in South Korea

Inter-regional comparison of land-use effects on stream metabolism

Identification of a novel synaptic protein, TMTC3, involved in periventricular nodular heterotopia with intellectual disability and epilepsy

Coq3 and Coq4 Define a Polypeptide Complex in Yeast Mitochondria for the Biosynthesis of Coenzyme Q

Comparing genome sequencing technologies to improve rare disease diagnostics: a protocol for the evaluation of a pilot project, Genome-wide Sequencing Ontario

A first-in-class pan-lysyl oxidase inhibitor impairs stromal remodeling and enhances gemcitabine response and survival in pancreatic cancer

Determinants of bioactivity of oxidized phospholipids. Specific oxidized fatty acyl groups at the sn-2 position

Effective dosing regimen of 1-aminobenzotriazole for inhibition of antipyrine clearance in guinea pigs and mice using serial sampling

The phenotype of Floating-Harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP

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