Ivan Macciocca
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Explore the profile of Ivan Macciocca including associated specialties, affiliations and a list of published articles.
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40
Citations
1007
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0
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Recent Articles
1.
Austin R, Brown J, Casauria S, Madelli E, Mattiske T, Boughtwood T, et al.
Genet Med Open
. 2024 Dec;
2:101842.
PMID: 39669597
Purpose: The Australian Genomics Cardiovascular Disorders Flagship was a national multidisciplinary collaboration. It aimed to investigate the feasibility of genome sequencing (GS) and functional genomics to resolve variants of uncertain...
2.
Martyn M, Lee L, Jan A, Tytherleigh R, Lynch F, Mighton C, et al.
Genet Med
. 2024 Nov;
27(2):101327.
PMID: 39548854
Purpose: Families of children in pediatric acute care who are offered ultrarapid genomic sequencing are making complex decisions during a high-stress period. To reduce complexity for families and clinicians, we...
3.
McCorkell G, Nisselle A, Halton D, Bouffler S, Patel C, Christodoulou J, et al.
Genet Med
. 2024 Aug;
26(10):101224.
PMID: 39092589
Purpose: To develop and evaluate a scalable national program to build confidence, competence and capability in the use of rapid genomic testing (rGT) in the acute pediatric setting. Methods: We...
4.
Downie L, Bouffler S, Amor D, Christodoulou J, Yeung A, Horton A, et al.
Genet Med
. 2024 Jan;
26(5):101077.
PMID: 38275146
Purpose: Gene selection for genomic newborn screening (gNBS) underpins the validity, acceptability, and ethical application of this technology. Existing gNBS gene lists are highly variable despite being based on shared...
5.
Singer E, Crowe J, Holliday M, Isbister J, Lal S, Nowak N, et al.
NPJ Genom Med
. 2023 Oct;
8(1):29.
PMID: 37821546
There is an incomplete understanding of the burden of splice-disrupting variants in definitively associated inherited heart disease genes and whether these genes can amplify from blood RNA to support functional...
6.
Chang Y, Wacker J, Ingles J, Macciocca I, King I, Semsarian C, et al.
J Med Genet
. 2023 Sep;
61(2):171-175.
PMID: 37657916
encodes a cardiac transcription factor that is associated with atrial septal defects. Recent studies implicate loss-of-function variants with left ventricular non-compaction cardiomyopathy (LVNC), although clinical and genetic data in families...
7.
Bouffler S, Lee L, Lynch F, Martyn M, Lynch E, Macciocca I, et al.
BMJ Open
. 2023 Jun;
13(6):e072999.
PMID: 37270192
Introduction: As routine genomic testing expands, so too does the opportunity to look for additional health information unrelated to the original reason for testing, termed additional findings (AF). Analysis for...
8.
Bagnall R, Singer E, Wacker J, Nowak N, Ingles J, King I, et al.
Circ Genom Precis Med
. 2022 Oct;
15(6):e003686.
PMID: 36252119
Background: The causes of cardiomyopathy in children are less well described than in adults. We evaluated the clinical diagnoses and genetic causes of childhood cardiomyopathy and outcomes of cascade genetic...
9.
Lynch F, Lewis S, Macciocca I, Craig J
J Dev Orig Health Dis
. 2021 Oct;
13(4):424-430.
PMID: 34658324
Epigenetics is likely to play a role in the mediation of the effects of genes and environment in risk for many non-communicable diseases (NCDs). The Developmental Origins of Health and...
10.
Lynch F, Lewis S, Macciocca I, Craig J
J Dev Orig Health Dis
. 2021 Sep;
13(4):431-440.
PMID: 34503601
The field of epigenetics is currently one of the most rapidly expanding in biology and has resulted in increasing public interest in its applications to human health. Epigenetics provides a...