Amy R Shikany

发表

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

S. Fitzgerald-Butt, L. Meyers, B. Helm, 2021, Journal of genetic counseling.

A Comprehensive Clinical Genetics Approach to Critical Congenital Heart Disease in Infancy.

R. Hinton, B. Landis, S. Ware, 2020, The Journal of pediatrics.

Left ventricular outflow tract obstruction: Uptake of familial cardiac screening and parental knowledge from a single tertiary care center

P. Khoury, E. Miller, Ashley Parrott, 2019, Journal of genetic counseling.

Comparison of Evolution of Aortic Root Dilation and Ghent Criteria in Preadolescents and Adolescents with and without Marfan Syndrome.

Lisa J. Martin, Justin T. Tretter, K. Weaver, 2020, The Journal of pediatrics.

Persistent left superior vena cava: an overlooked feature of CHARGE syndrome?

R. Hinton, S. Ware, P. Goldenberg, 2015 .

Prevalence of Genetic Diagnoses in a Cohort With Valvar Pulmonary Stenosis

B. Gelb, P. White, J. Cnota, 2022, Circulation. Genomic and precision medicine.

Using deep learning and electronic health records to detect Noonan syndrome in pediatric patients.

Yizhao Ni, Ge Zhang, Jing Chen, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

The MAP3K7 gene: Further delineation of clinical characteristics and genotype/phenotype correlations

B. V. van Bon, L. Bird, M. Tartaglia, 2022, Human mutation.

Investigation of de novo variation in pediatric cardiomyopathy

A. Lorts, C. Villa, P. Khoury, 2020, American journal of medical genetics. Part C, Seminars in medical genetics.

Prevalence of Noonan spectrum disorders in a pediatric population with valvar pulmonary stenosis

J. Cnota, V. Pilipenko, K. Weaver, 2018, Congenital heart disease.

Genetic Testing in Pediatric Left Ventricular Noncompaction

R. Hinton, S. Ware, R. Ittenbach, 2017, Circulation. Cardiovascular genetics.

Twins With Progressive Thoracic Aortic Aneurysm, Recurrent Dissection and ACTA2 Mutation

R. Hinton, B. Landis, S. Ware, 2014, Pediatrics.

Exome Sequencing Identifies Candidate Genetic Modifiers of Syndromic and Familial Thoracic Aortic Aneurysm Severity

A. Jegga, T. Foroud, R. Hinton, 2017, Journal of Cardiovascular Translational Research.

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

S. Fitzgerald-Butt, H. Tandri, A. Morales, 2017, Journal of Genetic Counseling.

Medically actionable comorbidities in adults with Costello syndrome

K. Gripp, D. Stabley, D. Doyle, 2020, American journal of medical genetics. Part A.

Clinical Stratification of Pediatric Patients with Idiopathic Thoracic Aortic Aneurysm.

Lisa J. Martin, R. Hinton, B. Landis, 2015, The Journal of pediatrics.

Retrospective comparison of parent‐reported genetics knowledge, empowerment, and familial uptake of cardiac screening between parents who received genetic counseling by a certified genetic counselor and those who did not: A single US academic medical center study

V. Pilipenko, Justin T. Tretter, K. Weaver, 2022, Journal of genetic counseling.

Rotational Position of the Aortic Root is Associated with Increased Aortic Dimensions in Marfan and Loeys–Dietz Syndrome

T. Alsaied, Justin T. Tretter, Nicole M Brown, 2021, Pediatric Cardiology.

Clinically relevant variants identified in thoracic aortic aneurysm patients by research exome sequencing

R. Hinton, B. Landis, S. Ware, 2016, American Journal of Medical Genetics. Part A.

Natural history of aortic root dilation through young adulthood in a hypermobile Ehlers–Danlos syndrome cohort

Lisa J. Martin, D. Neilson, K. Weaver, 2017, American journal of medical genetics. Part A.

Uptake of Screening and Recurrence of Bicuspid Aortic Valve and Thoracic Aortic Aneurysm Among At-Risk Siblings of Pediatric Probands.

Lisa J. Martin, J. Cnota, Justin T. Tretter, 2021, The Journal of pediatrics.

Clinically relevant variants identified in thoracic aortic aneurysm patients by research exome sequencing

R. Hinton, B. Landis, S. Ware, 2016, American journal of medical genetics. Part A.

Involvement of MAP3K7 in FMD2 and CSCF, delineation of genotype/phenotype correlations.

L. Bird, M. Tartaglia, Y. Elgersma, 2021 .