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Julia Platt

Explore the profile of Julia Platt including associated specialties, affiliations and a list of published articles. Areas
Snapshot
Articles 17
Citations 443
Followers 0
Related Specialties
Genetics
Cardiology & Vascular Diseases
Science
Top 10 Co-Authors
Gregory M Enns
Rachel Cox
Mariella Simon
Matteo Vatta
Douglas C Wallace
Jonathan A Bernstein
Wendy K Chung
Kyla Dunn
Colleen Caleshu
Kara S Motonaga
Published In
J Genet Couns
Genet Med
Circ Genom Precis Med
Proc Natl Acad Sci U S A
Mitochondrion
Affiliations
Soon will be listed here.
Recent Articles
1.
Treatment patterns and healthcare resource utilization in ruxolitinib-treated patients with myelofibrosis with and without anemia: a real-world analysis
Liu T, Fillbrunn M, Zhang S, Chen J, Li W, Platt J, et al.
Ann Hematol . 2025 Mar; PMID: 40069437
Anemia affects many patients with myelofibrosis and is associated with poor prognosis. The Janus kinase inhibitor ruxolitinib is often used in myelofibrosis but may cause or worsen anemia. Using healthcare...
2.
Analysis of financial barriers experienced by prospective genetic counseling students
Lee D, Platt J, Flodman P, Singh K, Quintero-Rivera F
Genet Med . 2024 Jun; 26(11):101175. PMID: 38850131
Purpose: High costs of applying to genetic counseling graduate programs (GCGPs) are likely a barrier to workforce diversification. We sought to determine application costs and assess differences between individuals of...
3.
Mono- and Biallelic Protein-Truncating Variants in Alpha-Actinin 2 Cause Cardiomyopathy Through Distinct Mechanisms
Lindholm M, Jimenez-Morales D, Zhu H, Seo K, Amar D, Zhao C, et al.
Circ Genom Precis Med . 2021 Nov; 14(6):e003419. PMID: 34802252
Background: ACTN2 (alpha-actinin 2) anchors actin within cardiac sarcomeres. The mechanisms linking mutations to myocardial disease phenotypes are unknown. Here, we characterize patients with novel mutations to reveal insights into...
4.
An assessment of the role of vinculin loss of function variants in inherited cardiomyopathy
Hawley M, Almontashiri N, Biesecker L, Berger N, Chung W, Garcia J, et al.
Hum Mutat . 2020 Jun; 41(9):1577-1587. PMID: 32516855
The ACMG/AMP variant classification framework was intended for highly penetrant Mendelian conditions. While it is appreciated that clinically relevant variants exhibit a wide spectrum of penetrance, accurately assessing and expressing...
5.
Summary report of the 2019 Diversity and Inclusion Task Force of the National Society of Genetic Counselors
Channaoui N, Khan A, Wiesman C, Bui K, Cunningham M, Brown K, et al.
J Genet Couns . 2020 Apr; 29(2):192-201. PMID: 32227531
The size and reach of the genetic counseling profession have expanded on a global scale since the 1970s. Despite this growth, the profession of genetic counseling has remained demographically homogenous....
6.
Variant Interpretation for Dilated Cardiomyopathy: Refinement of the American College of Medical Genetics and Genomics/ClinGen Guidelines for the DCM Precision Medicine Study
Morales A, Kinnamon D, Jordan E, Platt J, Vatta M, Dorschner M, et al.
Circ Genom Precis Med . 2020 Mar; 13(2):e002480. PMID: 32160020
Background: The hypothesis of the Dilated Cardiomyopathy Precision Medicine Study is that most dilated cardiomyopathy has a genetic basis. The study returns results to probands and, when indicated, to relatives....
7.
Broad Genetic Testing in a Clinical Setting Uncovers a High Prevalence of Titin Loss-of-Function Variants in Very Early Onset Atrial Fibrillation
Goodyer W, Dunn K, Caleshu C, Jackson M, Wylie J, Moscarello T, et al.
Circ Genom Precis Med . 2019 Oct; 12(11):e002713. PMID: 31638414
No abstract available.
8.
A Person-Centered Approach to Cardiovascular Genetic Testing
Platt J
Cold Spring Harb Perspect Med . 2019 Oct; 10(7). PMID: 31570390
Cardiovascular genetic counselors provide guidance to people facing the reality or prospect of inherited cardiovascular conditions. Key activities in this role include discussing clinical cardiac screening for at-risk family members...
9.
Clinical Characteristics of the N215S Variant and Implications for the Diagnosis and Management of Nonclassic Fabry Disease
Reuter C, Platt J
Circ Cardiovasc Genet . 2017 Oct; 10(5). PMID: 29018007
No abstract available.
10.
De novo truncating variants in the AHDC1 gene encoding the AT-hook DNA-binding motif-containing protein 1 are associated with intellectual disability and developmental delay
Yang H, Douglas G, Monaghan K, Retterer K, Cho M, Escobar L, et al.
Cold Spring Harb Mol Case Stud . 2016 May; 1(1):a000562. PMID: 27148574
Whole-exome sequencing (WES) represents a significant breakthrough in clinical genetics, and identifies a genetic etiology in up to 30% of cases of intellectual disability (ID). Using WES, we identified seven...