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Genetics

Estimated prevalence and clinical manifestations of UBA1 variants associated with VEXAS syndrome in a clinical population

30 Jan, 2023 | 00:51h | UTC

Estimated Prevalence and Clinical Manifestations of UBA1 Variants Associated With VEXAS Syndrome in a Clinical Population – JAMA (free for a limited period)

Commentaries:

Study provides an estimate of people in the United States with VEXAS syndrome – News Medical

VEXAS Syndrome More Prevalent Than Previous Estimates, Certain Types Of Rheumatologic Conditions – HCP Live

Prevalence of VEXAS Syndrome Identified in U.S. Health System – HealthDay

Recently identified inflammatory disease VEXAS syndrome may be more common than thought, study suggests – CNN

 

Consensus Paper | Tumor surveillance guidelines for individuals with neurofibromatosis type 1

25 Jan, 2023 | 11:24h | UTC

ERN GENTURIS tumour surveillance guidelines for individuals with neurofibromatosis type 1 – eClinicalMedicine

 

Retrospective study | Supernumerary sex chromosome aneuploidies are associated with increased risk of VTE

18 Jan, 2023 | 14:22h | UTC

Association of Supernumerary Sex Chromosome Aneuploidies With Venous Thromboembolism – JAMA (free for a limited period)

 

AGA clinical practice update on diagnosis and management of acute hepatic porphyrias

17 Jan, 2023 | 13:19h | UTC

AGA Clinical Practice Update on Diagnosis and Management of Acute Hepatic Porphyrias: Expert Review – Gastroenterology

 

Genetic causes of heart failure with preserved ejection fraction: emerging pharmacological treatments

17 Jan, 2023 | 13:08h | UTC

Genetic causes of heart failure with preserved ejection fraction: emerging pharmacological treatments – European Heart Journal

 

Commentary on Twitter

 

Cohort Study | Contralateral breast cancer risk among carriers of germline pathogenic variants in ATM, BRCA1, BRCA2, CHEK2, and PALB2

13 Jan, 2023 | 13:14h | UTC

Contralateral Breast Cancer Risk Among Carriers of Germline Pathogenic Variants in ATM, BRCA1, BRCA2, CHEK2, and PALB2 – Journal of Clinical Oncology

Commentary: Incidence of Contralateral Breast Cancers Among Pathogenic Variant Carriers Could Guide Management Decisions – ASCO Daily News

 

Phase 1-2 study | Lentiviral gene therapy for artemis-deficient SCID

12 Jan, 2023 | 12:59h | UTC

Lentiviral Gene Therapy for Artemis-Deficient SCID – New England Journal of Medicine (link to abstract – $ for full-text)

Commentary: Infant gene therapy is a breakthrough for Artemis-SCID patients – University of California – San Francisco

 

Commentary on Twitter

 

Review | Cancer epigenetics in clinical practice

11 Jan, 2023 | 14:15h | UTC

Cancer epigenetics in clinical practice – CA: A Cancer Journal for Clinicians

 

Expert Consensus | Clinical practice recommendations for primary hyperoxaluria

10 Jan, 2023 | 14:36h | UTC

Clinical practice recommendations for primary hyperoxaluria: an expert consensus statement from ERKNet and OxalEurope – Nature Reviews Nephrology

 

Intrapatient RCT | Beremagene Geperpavec (B-VEC) vs. placebo for dystrophic epidermolysis bullosa.

16 Dec, 2022 | 13:34h | UTC

Trial of Beremagene Geperpavec (B-VEC) for Dystrophic Epidermolysis Bullosa – New England Journal of Medicine (link to abstract – $ for full-text)

 

Featured Infographic | Recognizing Mendelian (Monogenic) CVD.

8 Dec, 2022 | 12:40h | UTC

Featured Infographic | Recognizing Mendelian (Monogenic) CVD – American College of Cardiology

 

Cohort Study | Polygenic risk score improves the accuracy of a clinical risk score for coronary artery disease.

23 Nov, 2022 | 13:55h | UTC

Polygenic risk score improves the accuracy of a clinical risk score for coronary artery disease – BMC Medicine

Related:

AHA Scientific Statement | Polygenic risk scores for cardiovascular disease.

Incremental Value of Polygenic Risk Scores in Primary Prevention of Coronary Heart Disease: A Review – JAMA Internal Medicine

Cohort Study | Predictive utility of a validated polygenic risk score for long-term risk of coronary heart disease in young and middle-aged adults.

Cohort Study | Polygenic risk, midlife life’s simple 7, and lifetime risk of stroke.

Cohort Study: A polygenic risk score may improve risk stratification of coronary artery disease.

Responsible use of polygenic risk scores in the clinic: potential benefits, risks and gaps.

Studies: Little Benefit from Polygenic Risk Score vs. Clinical Risk Score for Predicting Cardiovascular Risk

 

Commentary on Twitter

 

Cohort Study | Prognostic prediction of genotype vs. phenotype in genetic cardiomyopathies.

23 Nov, 2022 | 13:57h | UTC

Prognostic Prediction of Genotype vs Phenotype in Genetic Cardiomyopathies – Journal of the American College of Cardiology

 

Commentary on Twitter

 

Under a Creative Commons license

 

RCT | Leniolisib for Activated phosphoinositide 3-kinase delta syndrome.

22 Nov, 2022 | 13:12h | UTC

Randomized, Placebo-Controlled, Phase 3 Trial of PI3Kδ Inhibitor Leniolisib for Activated PI3Kδ Syndrome – Blood 

 

Case-control study | Risk variants in the exomes of children with critical illness.

10 Nov, 2022 | 13:52h | UTC

Risk Variants in the Exomes of Children With Critical Illness – JAMA Network Open

 

Risk reduction and screening of cancer in hereditary breast-ovarian cancer syndromes: ESMO Clinical Practice Guideline.

31 Oct, 2022 | 13:50h | UTC

Risk reduction and screening of cancer in hereditary breast-ovarian cancer syndromes: ESMO Clinical Practice Guideline – Annals of Oncology

 

Guidance for the diagnosis and treatment of hypolipidemia disorders.

28 Oct, 2022 | 13:19h | UTC

Guidance for the diagnosis and treatment of hypolipidemia disorders – Journal of Clinical Lipidology

 

Cohort Study | Highly malignant disease in childhood-onset arrhythmogenic right ventricular cardiomyopathy.

24 Oct, 2022 | 14:08h | UTC

Highly malignant disease in childhood-onset arrhythmogenic right ventricular cardiomyopathy – European Heart Journal

Editorial: Arrhythmogenic cardiomyopathies in children: seek and you shall find – European Heart Journal

 

Commentary on Twitter

Under a https://creativecommons.org/licenses/by-nc/4.0/ License

 

Cohort Study | Genetic sequencing of pancreatic cyst fluid reveals diverse genomic alterations that may guide clinical management.

20 Oct, 2022 | 12:24h | UTC

Prospective, Multi-Institutional, Real-Time Next-Generation Sequencing of Pancreatic Cyst Fluid Reveals Diverse Genomic Alterations that Improve the Clinical Management of Pancreatic Cysts – Gastroenterology (PDF)

News Release: Genetic test for pancreatic cancer outperforms current guidelines – University of Pittsburgh

 

Commentary from the author on Twitter (thread – click for more)

 

Review | Cardiac care of children with Duchenne muscular dystrophy (DMD) and females carrying DMD-gene variations.

20 Oct, 2022 | 12:21h | UTC

Cardiac care of children with dystrophinopathy and females carrying DMD-gene variations – openheart

 

Clinical risk score to predict pathogenic genotypes in patients with dilated cardiomyopathy.

26 Sep, 2022 | 11:57h | UTC

Clinical Risk Score to Predict Pathogenic Genotypes in Patients With Dilated Cardiomyopathy – Journal of the American College of Cardiology

Editorial: Genetic Testing for Dilated Cardiomyopathy: Old School Is New School – Journal of the American College of Cardiology

News Release: Scientists develop a tool to determine if dilated cardiomyopathy has a genetic origin  – Centro Nacional de Investigaciones Cardiovasculares Carlos III

 

Commentary on Twitter

 

New research estimates the overall disease burden of genetic risk factors.

15 Sep, 2022 | 13:13h | UTC

News Release: New research estimates the overall disease burden of genetic risk factors – University of Helsinki

Original Study: Genetic risk factors have a substantial impact on healthy life years – Nature Medicine

 

Commentaries on Twitter

 

Retrospective Cohort Study | Natural history of MYH7-related dilated cardiomyopathy.

14 Sep, 2022 | 13:06h | UTC

Natural History of MYH7-related Dilated Cardiomyopathy – Journal of the American College of Cardiology

 

M-A | Blood type linked to the risk of stroke before age 60.

13 Sep, 2022 | 13:17h | UTC

Contribution of Common Genetic Variants to Risk of Early Onset Ischemic Stroke – Neurology (link to abstract – $ for full-text)

News Releases:

Is your blood type linked to your risk of stroke before age 60? – American Academy of Neurology

Blood Type Linked To Stroke Risk Before 60 – University of Maryland

 

After the genome—a brief history of proteomics.

1 Sep, 2022 | 11:58h | UTC

After the Genome—A Brief History of Proteomics – JAMA (free for a limited period)

Video: Proteomics 101 – JAMA

 

Commentary on Twitter

 

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