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ClinGen's RASopathy Expert Panel consensus methods for variant interpretation

Genetics in medicine, 2018-11, Vol.20 (11), p.1334-1345

2018

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Assessing the gene–disease association of 19 genes with the RASopathies using the ClinGen gene curation framework

Human mutation, 2018-11, Vol.39 (11), p.1485-1493

2018

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Retrospective study of prenatal ultrasound findings in newborns with a Noonan spectrum disorder

Prenatal diagnosis, 2016-05, Vol.36 (5), p.418-423

2016

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Expanding the Noonan spectrum/RASopathy NGS panel: Benefits of adding NF1 and SPRED1

Molecular genetics & genomic medicine, 2020-04, Vol.8 (4), p.e1180-n/a

2020

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Lessons learned from expanded reproductive carrier screening in self‐reported Ashkenazi, Sephardi, and Mizrahi Jewish patients

Molecular genetics & genomic medicine, 2020-02, Vol.8 (2), p.e1053-n/a

2020

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RAF1-associated Noonan syndrome presenting antenatally with an abnormality of skull shape, subdural haematoma and associated with novel cerebral malformations

Clinical dysmorphology, 2017-04, Vol.26 (2), p.101

2017

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Guidelines on the management of abnormal liver blood tests

Gut, 2018-01, Vol.67 (1), p.6

2018

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TubULAR: tracking in toto deformations of dynamic tissues via constrained maps

Nature methods, 2023-12, Vol.20 (12), p.1980

2023

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Sulfur(VI) Fluoride Exchange (SuFEx)-Enabled High-Throughput Medicinal Chemistry

Journal of the American Chemical Society, 2020-06, Vol.142 (25), p.10899-10904

2020

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Neutralizing the pathological effects of extracellular histones with small polyanions

Nature communications, 2020-12, Vol.11 (1), p.6408-17, Article 6408

2020

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Impact of the COVID-19 Pandemic on Cardiovascular Science: Anticipating Problems and Potential Solutions: A Presidential Advisory From the American Heart Association

Circulation (New York, N.Y.), 2021-12, Vol.144 (23), p.e461-e471

2021

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Assessment of electrospun cardiac patches made with sacrificial particles and polyurethane‐polycaprolactone blends

Journal of biomedical materials research. Part A, 2021-11, Vol.109 (11), p.2154-2163

2021

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Structural insights into enzymatic [4+2] aza-cycloaddition in thiopeptide antibiotic biosynthesis

Proceedings of the National Academy of Sciences - PNAS, 2017-12, Vol.114 (49), p.12928-12933

2017

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Metabolomes of bumble bees reared in common garden conditions suggest constitutive differences in energy and toxin metabolism across populations

Journal of insect physiology, 2023-12, Vol.151, p.104581-104581, Article 104581

2023

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Emerged Metallicity in Molecular Ferromagnetic Wires

Nano letters, 2021-11, Vol.21 (22), p.9746-9753

2021

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Too Little of a Good Thing: Strong Associations Between Cardiac Size and Fitness Among Women

JACC. Cardiovascular imaging, 2023-06, Vol.16 (6), p.768-778

2023

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Pharmacological modulation of anxiety-like phenotypes in adult zebrafish behavioral models

Progress in neuro-psychopharmacology & biological psychiatry, 2011-08, Vol.35 (6), p.1421-1431

2011

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MIRO2 Regulates Prostate Cancer Cell Growth via GCN1-Dependent Stress Signaling

Molecular cancer research, 2022-04, Vol.20 (4), p.607-621

2022

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High risk of acute pulmonary toxicity with both myeloablative and non-myeloablative total body irradiation-based conditioning for allogeneic stem cell transplantation

Bone marrow transplantation (Basingstoke), 2024-01, Vol.59 (1), p.150-152

2024

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Molecular Characterization of Sulfate-Reducing Bacteria in the Guaymas Basin

Applied and Environmental Microbiology, 2003-05, Vol.69 (5), p.2765-2772

2003

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Unicompartmental knee arthroplasty revised to total knee arthroplasty versus primary total knee arthroplasty: A meta-analysis of matched studies

The knee, 2023-12, Vol.45, p.1-10

2023

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Neoprene Knee Sleeves of Varying Tightness Augment Barbell Squat One Repetition Maximum Performance Without Improving Other Indices of Muscular Strength, Power, or Endurance

Journal of strength and conditioning research, 2021-02, Vol.35 (Suppl 1), p.S6-S15

2021

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Aurora B functions at the apical surface after specialized cytokinesis during morphogenesis in C. elegans

Development (Cambridge), 2020-01, Vol.147 (1)

2020

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Adaptation and validation of the ACMG/AMP variant classification framework for MYH7-associated inherited cardiomyopathies: recommendations by ClinGen's Inherited Cardiomyopathy Expert Panel

ClinGen's RASopathy Expert Panel consensus methods for variant interpretation

Assessing the gene–disease association of 19 genes with the RASopathies using the ClinGen gene curation framework

Retrospective study of prenatal ultrasound findings in newborns with a Noonan spectrum disorder

Expanding the Noonan spectrum/RASopathy NGS panel: Benefits of adding NF1 and SPRED1

Lessons learned from expanded reproductive carrier screening in self‐reported Ashkenazi, Sephardi, and Mizrahi Jewish patients

RAF1-associated Noonan syndrome presenting antenatally with an abnormality of skull shape, subdural haematoma and associated with novel cerebral malformations

Guidelines on the management of abnormal liver blood tests

TubULAR: tracking in toto deformations of dynamic tissues via constrained maps

Sulfur(VI) Fluoride Exchange (SuFEx)-Enabled High-Throughput Medicinal Chemistry

Neutralizing the pathological effects of extracellular histones with small polyanions

Impact of the COVID-19 Pandemic on Cardiovascular Science: Anticipating Problems and Potential Solutions: A Presidential Advisory From the American Heart Association

Assessment of electrospun cardiac patches made with sacrificial particles and polyurethane‐polycaprolactone blends

Structural insights into enzymatic [4+2] aza-cycloaddition in thiopeptide antibiotic biosynthesis

Metabolomes of bumble bees reared in common garden conditions suggest constitutive differences in energy and toxin metabolism across populations

Emerged Metallicity in Molecular Ferromagnetic Wires

National Institutes of Health StrokeNet During the Time of COVID-19 and Beyond

Too Little of a Good Thing: Strong Associations Between Cardiac Size and Fitness Among Women

Pharmacological modulation of anxiety-like phenotypes in adult zebrafish behavioral models

MIRO2 Regulates Prostate Cancer Cell Growth via GCN1-Dependent Stress Signaling

High risk of acute pulmonary toxicity with both myeloablative and non-myeloablative total body irradiation-based conditioning for allogeneic stem cell transplantation

Molecular Characterization of Sulfate-Reducing Bacteria in the Guaymas Basin

Unicompartmental knee arthroplasty revised to total knee arthroplasty versus primary total knee arthroplasty: A meta-analysis of matched studies

Neoprene Knee Sleeves of Varying Tightness Augment Barbell Squat One Repetition Maximum Performance Without Improving Other Indices of Muscular Strength, Power, or Endurance

Aurora B functions at the apical surface after specialized cytokinesis during morphogenesis in C. elegans

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