Colin McKerlie
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Explore the profile of Colin McKerlie including associated specialties, affiliations and a list of published articles.
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90
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3064
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Recent Articles
1.
Vo P, Imai-Leonard D, Yang B, Briere A, Shao A, Casanova M, et al.
BMC Genomics
. 2025 Jan;
26(1):48.
PMID: 39833678
Purpose: Corneal dysmorphologies (CDs) are typically classified as either regressive degenerative corneal dystrophies (CDtrs) or defective growth and differentiation-driven corneal dysplasias (CDyps). Both eye disorders have multifactorial etiologies. While previous...
2.
Elrick H, Peterson K, Willis B, Lanza D, Acar E, Ryder E, et al.
Sci Rep
. 2024 Sep;
14(1):22626.
PMID: 39349521
The International Mouse Phenotyping Consortium (IMPC) systematically produces and phenotypes mouse lines with presumptive null mutations to provide insight into gene function. The IMPC now uses the programmable RNA-guided nuclease...
3.
Spielmann N, Miller G, Oprea T, Hsu C, Fobo G, Frishman G, et al.
Nat Cardiovasc Res
. 2024 Aug;
1(2):157-173.
PMID: 39195995
Clinical presentation of congenital heart disease is heterogeneous, making identification of the disease-causing genes and their genetic pathways and mechanisms of action challenging. By using in vivo electrocardiography, transthoracic echocardiography...
4.
Maddirevula S, Shagrani M, Ji A, Horne C, Young S, Mather L, et al.
Genet Med
. 2024 Aug;
26(11):101231.
PMID: 39132680
Purpose: Pediatric cholestasis is the phenotypic expression of clinically and genetically heterogeneous disorders of bile acid synthesis and flow. Although a growing number of monogenic causes of pediatric cholestasis have...
5.
Michaud S, Petrosova H, Sinclair N, Kinnear A, Jackson A, McGuire J, et al.
Commun Biol
. 2024 Jan;
7(1):6.
PMID: 38168632
Mouse is the mammalian model of choice to study human health and disease due to its size, ease of breeding and the natural occurrence of conditions mimicking human pathology. Here...
6.
Zhang Y, Barupal D, Fan S, Gao B, Zhu C, Flenniken A, et al.
Metabolites
. 2023 Aug;
13(8).
PMID: 37623890
Although metabolic alterations are observed in many monogenic and complex genetic disorders, the impact of most mammalian genes on cellular metabolism remains unknown. Understanding the effect of mouse gene dysfunction...
7.
Ruberte J, Schofield P, Sundberg J, Rodriguez-Baeza A, Carretero A, McKerlie C
Mamm Genome
. 2023 Jul;
34(3):389-407.
PMID: 37421464
The laboratory mouse is the foremost mammalian model used for studying human diseases and is closely anatomically related to humans. Whilst knowledge about human anatomy has been collected throughout the...
8.
Oestereicher M, Wotton J, Ayabe S, Bou About G, Cheng T, Choi J, et al.
Mamm Genome
. 2023 Jun;
34(2):180-199.
PMID: 37294348
Reference ranges provide a powerful tool for diagnostic decision-making in clinical medicine and are enormously valuable for understanding normality in pre-clinical scientific research that uses in vivo models. As yet,...
9.
Chee J, Lanoue L, Clary D, Higgins K, Bower L, Flenniken A, et al.
BMC Biol
. 2023 Feb;
21(1):22.
PMID: 36737727
Background: Microphthalmia, anophthalmia, and coloboma (MAC) spectrum disease encompasses a group of eye malformations which play a role in childhood visual impairment. Although the predominant cause of eye malformations is...
10.
Higgins K, Moore B, Berberovic Z, Adissu H, Eskandarian M, Flenniken A, et al.
Sci Rep
. 2022 Dec;
12(1):20791.
PMID: 36456625
We searched a database of single-gene knockout (KO) mice produced by the International Mouse Phenotyping Consortium (IMPC) to identify candidate ciliopathy genes. We first screened for phenotypes in mouse lines...