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A descriptive investigation of clinical practice models used by cardiovascular genetic counselors in North America

Journal of genetic counseling, 2023-04, Vol.32 (2), p.362-375

2023

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Novel familial dilated cardiomyopathy mutation in MYL2 affects the structure and function of myosin regulatory light chain

The FEBS journal, 2015-06, Vol.282 (12), p.2379-2393

2015

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Management of amended variant classification laboratory reports by genetic counselors in the United States and Canada: An exploratory study

Journal of genetic counseling, 2022-04, Vol.31 (2), p.479-488

2022

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Prevalence of De Quervain disease in infant caregivers and its association with risk factors

Journal of the Pakistan Medical Association, 2024-07, Vol.74 (7), p.1335

2024

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Genetic counselors and congenital heart disease: Clinical roles, genetic testing practices, and perceived genetic testing utility

Journal of genetic counseling, 2023-10

2023

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Assessing genetic counselors’ graduate school education and training in congenital heart defects

Journal of genetic counseling, 2022-06, Vol.31 (3), p.735-745

2022

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A cohort study of multiple families with FBN1 p.R650C variant, ectopia lentis, and low but not absent risk for aortopathy

American journal of medical genetics. Part A, 2017-11, Vol.173 (11), p.2995-3002

2017

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Genetic counseling for congenital heart disease – Practice resource of the National Society of Genetic Counselors

Journal of genetic counseling, 2022-02, Vol.31 (1), p.9-33

2022

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It's not as simple as just bending wires

British dental journal, 2023-09, Vol.235 (5), p.323-323

Butt, Sara

2023

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Building a Novel Artificial Intelligence–Driven Echocardiographic Data Pipeline: Findings From a Large Learning Health System

Journal of the American Society of Echocardiography, 2024-06

2024

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NOTCH1 mutations in individuals with left ventricular outflow tract malformations reduce ligand-induced signaling

Human molecular genetics, 2008-09, Vol.17 (18), p.2886-2893

2008

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ChatGPT and Artificial Intelligence in Hospital Level Research: Potential, Precautions, and Prospects

Methodist DeBakey cardiovascular journal, 2023, Vol.19 (5), p.77-84

2023

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Genetic knowledge and attitudes of parents of children with congenital heart defects

American journal of medical genetics. Part A, 2014-12, Vol.164A (12), p.3069-3075

2014

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Lifetime Prevalence of Sexual Intercourse and Contraception Use at Last Sex Among Adolescents and Young Adults With Congenital Heart Disease

Journal of adolescent health, 2015-04, Vol.56 (4), p.396-401

2015

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Exome sequencing in multiplex families with left-sided cardiac defects has high yield for disease gene discovery

PLoS genetics, 2022-06, Vol.18 (6), p.e1010236-e1010236

2022

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Understanding of informed consent by parents of children enrolled in a genetic biobank

Genetics in medicine, 2014-02, Vol.16 (2), p.141-148

2014

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Comparison of willingness and preference for genetic counseling via telemedicine: before vs. during the COVID-19 pandemic

Journal of community genetics, 2022-08, Vol.13 (4), p.449-458

2022

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The role of breathing techniques in the management of asthma: a systematic review

Journal of the Pakistan Medical Association, 2024-07, Vol.74 (7), p.1296-1299

2024

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At the Heart of the Pregnancy: What Prenatal and Cardiovascular Genetic Counselors Need to Know about Maternal Heart Disease

Journal of genetic counseling, 2017-08, Vol.26 (4), p.669-688

2017

Volltextzugriff (PDF)

Novel frameshift variant in MYL2 reveals molecular differences between dominant and recessive forms of hypertrophic cardiomyopathy

PLoS genetics, 2020-05, Vol.16 (5), p.e1008639-e1008639

2020

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Association of common variants in ERBB4 with congenital left ventricular outflow tract obstruction defects

Birth defects research. A Clinical and molecular teratology, 2011-03, Vol.91 (3), p.162-168

2011

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A genome-wide association study of congenital cardiovascular left-sided lesions shows association with a locus on chromosome 20

Human molecular genetics, 2016-06, Vol.25 (11), p.2331-2341

2016

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Utilization of Whole Exome Sequencing to Identify Causative Mutations in Familial Congenital Heart Disease

Circulation. Cardiovascular genetics, 2016-08, Vol.9 (4), p.320

2016

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Linkage analysis of left ventricular outflow tract malformations (aortic valve stenosis, coarctation of the aorta, and hypoplastic left heart syndrome)

European journal of human genetics : EJHG, 2009-06, Vol.17 (6), p.811-819

2009

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Erratum to: At the Heart of the Pregnancy: What Prenatal and Cardiovascular Genetic Counselors Need to Know about Maternal Heart Disease

Journal of genetic counseling, 2017-08, Vol.26 (4), p.689-689

2017

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A descriptive investigation of clinical practice models used by cardiovascular genetic counselors in North America

Novel familial dilated cardiomyopathy mutation in MYL2 affects the structure and function of myosin regulatory light chain

Management of amended variant classification laboratory reports by genetic counselors in the United States and Canada: An exploratory study

Prevalence of De Quervain disease in infant caregivers and its association with risk factors

Genetic counselors and congenital heart disease: Clinical roles, genetic testing practices, and perceived genetic testing utility

Assessing genetic counselors’ graduate school education and training in congenital heart defects

A cohort study of multiple families with FBN1 p.R650C variant, ectopia lentis, and low but not absent risk for aortopathy

Genetic counseling for congenital heart disease – Practice resource of the National Society of Genetic Counselors

It's not as simple as just bending wires

Building a Novel Artificial Intelligence–Driven Echocardiographic Data Pipeline: Findings From a Large Learning Health System

NOTCH1 mutations in individuals with left ventricular outflow tract malformations reduce ligand-induced signaling

ChatGPT and Artificial Intelligence in Hospital Level Research: Potential, Precautions, and Prospects

Genetic knowledge and attitudes of parents of children with congenital heart defects

Lifetime Prevalence of Sexual Intercourse and Contraception Use at Last Sex Among Adolescents and Young Adults With Congenital Heart Disease

Exome sequencing in multiplex families with left-sided cardiac defects has high yield for disease gene discovery

Understanding of informed consent by parents of children enrolled in a genetic biobank

Comparison of willingness and preference for genetic counseling via telemedicine: before vs. during the COVID-19 pandemic

The role of breathing techniques in the management of asthma: a systematic review

At the Heart of the Pregnancy: What Prenatal and Cardiovascular Genetic Counselors Need to Know about Maternal Heart Disease

Novel frameshift variant in MYL2 reveals molecular differences between dominant and recessive forms of hypertrophic cardiomyopathy

Association of common variants in ERBB4 with congenital left ventricular outflow tract obstruction defects

A genome-wide association study of congenital cardiovascular left-sided lesions shows association with a locus on chromosome 20

Utilization of Whole Exome Sequencing to Identify Causative Mutations in Familial Congenital Heart Disease

Linkage analysis of left ventricular outflow tract malformations (aortic valve stenosis, coarctation of the aorta, and hypoplastic left heart syndrome)

Erratum to: At the Heart of the Pregnancy: What Prenatal and Cardiovascular Genetic Counselors Need to Know about Maternal Heart Disease

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