Edwin P Kirk
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Explore the profile of Edwin P Kirk including associated specialties, affiliations and a list of published articles.
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Articles
105
Citations
2357
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Recent Articles
1.
Delatycki M, Kirk E, Laing N
N Engl J Med
. 2025 Feb;
392(9):930.
PMID: 40009814
No abstract available.
2.
Freeman L, Archibald A, Dive L, Delatycki M, Kirk E, Laing N, et al.
Eur J Hum Genet
. 2024 Nov;
33(2):194-198.
PMID: 39587355
Reproductive genetic carrier screening (RGCS) provides information about people's chance of having children with certain genetic conditions, to inform reproductive decision making. RGCS at population scale requires a robust and...
3.
Kirk E, Delatycki M, Archibald A, Tutty E, Caruana J, Halliday J, et al.
N Engl J Med
. 2024 Nov;
391(20):1877-1889.
PMID: 39565987
Background: Genomic sequencing technology allows for identification of reproductive couples with an increased chance, as compared with that in the general population, of having a child with an autosomal recessive...
4.
Chung C, Bournazos A, Chan L, Sarkozy V, Lawson J, Kennedy S, et al.
Mol Genet Genomic Med
. 2024 Oct;
12(10):e70017.
PMID: 39352229
Methods: We describe the phenotypes in an Australian TSC NMI group (n = 18) and a molecular testing strategy implementable in a diagnostic laboratory. Massively parallel sequencing (MPS) of the...
5.
Goh S, Thiyagarajan L, Dudding-Byth T, Pinese M, Kirk E
Genet Med
. 2024 Aug;
27(1):101227.
PMID: 39092588
Purpose: Many copy-number variants (CNVs) are reported to cause a variety of neurodevelopmental disabilities including intellectual disability, developmental delay, autism, and other phenotypes with incomplete penetrance. Therefore, not all individuals...
6.
Davidson S, Shibata Y, Collard S, Zheng H, Kong K, Sun J, et al.
J Exp Med
. 2024 Apr;
221(6).
PMID: 38630025
OTU deubiquitinase with linear linkage specificity (OTULIN) regulates inflammation and cell death by deubiquitinating linear ubiquitin chains generated by the linear ubiquitin chain assembly complex (LUBAC). Biallelic loss-of-function mutations causes...
7.
Dias K, Shrestha R, Schofield D, Evans C, OHeir E, Zhu Y, et al.
Genet Med
. 2024 Jan;
26(5):101076.
PMID: 38258669
Purpose: Genome sequencing (GS)-specific diagnostic rates in prospective tightly ascertained exome sequencing (ES)-negative intellectual disability (ID) cohorts have not been reported extensively. Methods: ES, GS, epigenetic signatures, and long-read sequencing...
8.
Hall H, Parry D, Halachev M, Williamson K, Donnelly K, Campos Parada J, et al.
J Med Genet
. 2023 Dec;
61(3):250-261.
PMID: 38050128
Background: Classic aniridia is a highly penetrant autosomal dominant disorder characterised by congenital absence of the iris, foveal hypoplasia, optic disc anomalies and progressive opacification of the cornea. >90% of...
9.
Freeman L, Bristowe L, Kirk E, Delatycki M, Scully J
J Genet Couns
. 2023 Aug;
33(3):566-577.
PMID: 37533186
Many commercial reproductive genetic carrier screening (RGCS) panels include genes associated with non-syndromic hearing loss (NSHL), however little is known about the general acceptability of their inclusion. Although some couples...
10.
Davidson J, Russell J, Martinez N, Mowat D, Jones K, Kirk E, et al.
Genes (Basel)
. 2023 Jul;
14(7).
PMID: 37510307
Background: Current carrier screening methods do not identify a proportion of carriers that may have children affected by spinal muscular atrophy (SMA). Additional genetic data is essential to inform accurate...