Matilda Haas
Overview
Explore the profile of Matilda Haas including associated specialties, affiliations and a list of published articles.
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14
Citations
223
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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.
Rius R, Compton A, Baker N, Balasubramaniam S, Best S, Bhattacharya K, et al.
Genet Med
. 2024 Sep;
27(1):101271.
PMID: 39305161
Purpose: Families living with mitochondrial diseases (MD) often endure prolonged diagnostic journeys and invasive testing, yet many remain without a molecular diagnosis. The Australian Genomics Mitochondrial Flagship, comprising clinicians, diagnostic,...
3.
Mallawaarachchi A, Biros E, Harris T, Bennetts B, Boughtwood T, Elliott J, et al.
Hum Genomics
. 2024 Aug;
18(1):88.
PMID: 39154021
The KidGen Collaborative's Policy Implementation Workshop 2023 celebrated the 10th anniversary of Australia's first kidney genetics clinic in Brisbane. This event marked the establishment of a national network now comprising...
4.
Oliva A, Kaphle A, Reguant R, Sng L, Twine N, Malakar Y, et al.
Gigascience
. 2024 Jun;
13.
PMID: 38837943
Genomic information is increasingly used to inform medical treatments and manage future disease risks. However, any personal and societal gains must be carefully balanced against the risk to individuals contributing...
5.
White S, Haas M, Laginha K, Laurendet K, Gaff C, Vears D, et al.
Genet Med
. 2023 Jul;
25(11):100936.
PMID: 37454281
Genome sequencing can generate findings beyond the initial test indication that may be relevant to a patient or research participant's health. In the decade since the American College of Medical...
6.
Stark Z, Boughtwood T, Haas M, Braithwaite J, Gaff C, Goranitis I, et al.
Am J Hum Genet
. 2023 Mar;
110(3):419-426.
PMID: 36868206
Australian Genomics is a national collaborative partnership of more than 100 organizations piloting a whole-of-system approach to integrating genomics into healthcare, based on federation principles. In the first five years...
7.
Baltaci O, Pedersen M, Sherry T, Handley A, Snieckute G, Cao W, et al.
iScience
. 2022 Feb;
25(2):103791.
PMID: 35146399
Coordinated expression of cell adhesion and signaling molecules is crucial for brain development. Here, we report that the transforming growth factor β (TGF-β) type I receptor SMA-6 (small-6) acts independently...
8.
Prictor M, Lewis M, Newson A, Haas M, Baba S, Kim H, et al.
J Empir Res Hum Res Ethics
. 2019 Nov;
15(3):175-186.
PMID: 31729900
Dynamic consent (DC) is an approach to consent that enables people, through an interactive digital interface, to make granular decisions about their ongoing participation. This approach has been explored within...
9.
Li S, Qu Z, Haas M, Ngo L, Heo Y, Kang H, et al.
Sci Rep
. 2016 Jul;
6:29514.
PMID: 27404227
Copy number variations to chromosome 21 (HSA21) cause intellectual disability and Down Syndrome, but our understanding of the HSA21 genetic factors which contribute to fetal brain development remains incomplete. Here,...
10.
Xu X, Jaehne E, Greenberg Z, McCarthy P, Saleh E, Parish C, et al.
Sci Rep
. 2015 Jul;
5:12434.
PMID: 26207352
Sequencing and expression analyses implicate 14-3-3ζ as a genetic risk factor for neurodevelopmental disorders such as schizophrenia and autism. In support of this notion, we recently found that 14-3-3ζ(-/-) mice...