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Author Details

Sara M Fitzgerald-Butt
Indiana University School of Medicine
2005
32
15
PMIDPaper TitleJournal TitlePublished Year
36222363A descriptive investigation of clinical practice models used by cardiovascular genetic counselors in North America.J Genet Couns2023
34510635Genetic counseling for congenital heart disease - Practice resource of the National Society of Genetic Counselors.J Genet Couns2022
35737725Exome sequencing in multiplex families with left-sided cardiac defects has high yield for disease gene discovery.PLoS Genet2022
35794442Comparison of willingness and preference for genetic counseling via telemedicine: before vs. during the COVID-19 pandemic.J Community Genet2022
35833929Missense variants in ANKRD11 cause KBG syndrome by impairment of stability or transcriptional activity of the encoded protein.Genet Med2022
34877755Assessing genetic counselors' graduate school education and training in congenital heart defects.J Genet Couns2022
34570930Management of amended variant classification laboratory reports by genetic counselors in the United States and Canada: An exploratory study.J Genet Couns2022
32453731Novel frameshift variant in MYL2 reveals molecular differences between dominant and recessive forms of hypertrophic cardiomyopathy.PLoS Genet2020
30951675The Responsibility to Recontact Research Participants after Reinterpretation of Genetic and Genomic Research Results.Am J Hum Genet2019
31535183Reclassification of Variants of Uncertain Significance in Children with Inherited Arrhythmia Syndromes is Predicted by Clinical Factors.Pediatr Cardiol2019
28653806Assessment of large copy number variants in patients with apparently isolated congenital left-sided cardiac lesions reveals clinically relevant genomic events.Am J Med Genet A2017
28470398Erratum to: At the Heart of the Pregnancy: What Prenatal and Cardiovascular Genetic Counselors Need to Know about Maternal Heart Disease.J Genet Couns2017
28283918At the Heart of the Pregnancy: What Prenatal and Cardiovascular Genetic Counselors Need to Know about Maternal Heart Disease.J Genet Couns2017
28941062A cohort study of multiple families with FBN1 p.R650C variant, ectopia lentis, and low but not absent risk for aortopathy.Am J Med Genet A2017
28948327Abnormal Longitudinal Growth of the Aorta in Children with Familial Bicuspid Aortic Valve.Pediatr Cardiol2017
28535206Clinical exome sequencing reports: current informatics practice and future opportunities.J Am Med Inform Assoc2017
26032340Measuring genetic knowledge: a brief survey instrument for adolescents and adults.Clin Genet2016
27418595Utilization of Whole Exome Sequencing to Identify Causative Mutations in Familial Congenital Heart Disease.Circ Cardiovasc Genet2016
26965164A genome-wide association study of congenital cardiovascular left-sided lesions shows association with a locus on chromosome 20.Hum Mol Genet2016
25797631Lifetime prevalence of sexual intercourse and contraception use at last sex among adolescents and young adults with congenital heart disease.J Adolesc Health2015
25825243Novel familial dilated cardiomyopathy mutation in MYL2 affects the structure and function of myosin regulatory light chain.FEBS J2015
23807615Understanding of informed consent by parents of children enrolled in a genetic biobank.Genet Med2014
25260786Use of a targeted, combinatorial next-generation sequencing approach for the study of bicuspid aortic valve.BMC Med Genomics2014
25256359Genetic knowledge and attitudes of parents of children with congenital heart defects.Am J Med Genet A2014
24796370Rare GATA5 sequence variants identified in individuals with bicuspid aortic valve.Pediatr Res2014
24667040An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge.Genome Biol2014
21290564Association of common variants in ERBB4 with congenital left ventricular outflow tract obstruction defects.Birth Defects Res A Clin Mol Teratol2011
19949785Parental knowledge and attitudes toward hypertrophic cardiomyopathy genetic testing.Pediatr Cardiol2010
19142209Linkage analysis of left ventricular outflow tract malformations (aortic valve stenosis, coarctation of the aorta, and hypoplastic left heart syndrome).Eur J Hum Genet2009
18593716NOTCH1 mutations in individuals with left ventricular outflow tract malformations reduce ligand-induced signaling.Hum Mol Genet2008
17505203Genetic testing in autism: how much is enough?Genet Med2007
15782412Cardiovascular genetics clinics.Am J Med Genet A2005
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Collaborators

Peter White
The Ohio State University
Co-authored papers 6
Jeffrey A Towbin
University of Tennessee Health Science Center
Co-authored papers 5
John W Belmont
Baylor College of Medicine
Co-authored papers 5
Suzanne M Leal
Center for Statistical Genetics, Columbia University Medical Center
Co-authored papers 2
Christian Gilissen
Radboud University Medical Center
Co-authored papers 2
Heidi L Rehm
The Broad Institute of MIT and Harvard
Co-authored papers 2
Neil A Hanchard
Baylor College of Medicine.
Co-authored papers 2
Shaine A Morris
Baylor College of Medicine
Co-authored papers 2
Mahshid S Azamian
Co-authored papers 2
Gail E Herman
12306The Ohio State University
Co-authored papers 2
Stephanie LaHaye
The Institute for Genomic Medicine at Nationwide Children's Hospital
Co-authored papers 2
Seema R Lalani
Co-authored papers 2
Ali N Zaidi
Kravis Children's Hospital
Co-authored papers 2
Ignaty Leshchiner
Broad Institute of Massachusetts Institute of Technology and Harvard
Co-authored papers 1
David M Margulies
Renaissance School of Medicine, Stony Brook University
Co-authored papers 1
Hugh D Allen
Baylor College of Medicine
Co-authored papers 1
Francisco M De La Vega
Stanford University School of Medicine
Co-authored papers 1
Catherine A Brownstein
Harvard Medical School.
Co-authored papers 1
Henri Justino
Rady Children's Hospital
Co-authored papers 1
Christopher R Pierson
Co-authored papers 1
Michael F Murray
Yale School of Medicine
Co-authored papers 1
Anne E Kwitek
Medical College of Wisconsin
Co-authored papers 1
Gustavo Glusman
Institute for Systems Biology
Co-authored papers 1
Barry Moore
Utah Center for Genetic Discovery, University of Utah
Co-authored papers 1
Isaac S Kohane
Harvard Medical School
Co-authored papers 1
Matthew S Lebo
Harvard Medical School, Brigham and Women's Hospital
Co-authored papers 1
Peter Freisinger
Hospital Reutlingen
Co-authored papers 1
Val C Sheffield
Carver College of Medicine, University of Iowa
Co-authored papers 1
Daniel J Penny
Baylor College of Medicine and Texas Children's Hospital.
Co-authored papers 1
Bruce E Bray
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