Julie M Phipps
Overview
Explore the profile of Julie M Phipps including associated specialties, affiliations and a list of published articles.
Author names and details appear as published. Due to indexing inconsistencies, multiple individuals may share a name, and a single author may have variations. MedLuna displays this data as publicly available, without modification or verification
Snapshot
Snapshot
Articles
8
Citations
205
Followers
0
Related Specialties
Related Specialties
Top 10 Co-Authors
Top 10 Co-Authors
Published In
Published In
Affiliations
Affiliations
Soon will be listed here.
Recent Articles
1.
Nicoletti P, Zafer S, Matok L, Irron I, Patrick M, Haklai R, et al.
Genet Med Open
. 2024 Sep;
2.
PMID: 39345948
Purpose: The etiopathogenesis of coronal nonsyndromic craniosynostosis (cNCS), a congenital condition defined by premature fusion of 1 or both coronal sutures, remains largely unknown. Methods: We conducted the largest genome-wide...
2.
Walton I, McCann E, Weber A, Morton J, Noons P, Wilson L, et al.
J Anat
. 2024 May;
245(6):874-878.
PMID: 38760592
The RUNT-related transcription factor RUNX2 plays a critical role in osteoblast differentiation, and alterations to gene dosage cause distinct craniofacial anomalies. Uniquely amongst the RUNT-related family, vertebrate RUNX2 encodes a...
3.
Tooze R, Miller K, Swagemakers S, Calpena E, McGowan S, Boute O, et al.
Genet Med
. 2023 May;
25(9):100883.
PMID: 37154149
Purpose: Studies have previously implicated PRRX1 in craniofacial development, including demonstration of murine Prrx1 expression in the preosteogenic cells of the cranial sutures. We investigated the role of heterozygous missense...
4.
Calpena E, Cuellar A, Bala K, Swagemakers S, Koelling N, McGowan S, et al.
Genet Med
. 2020 Jul;
22(9):1567.
PMID: 32636483
An amendment to this paper has been published and can be accessed via a link at the top of the paper.
5.
Calpena E, Cuellar A, Bala K, Swagemakers S, Koelling N, McGowan S, et al.
Genet Med
. 2020 Jun;
22(9):1498-1506.
PMID: 32499606
Purpose: Enrichment of heterozygous missense and truncating SMAD6 variants was previously reported in nonsyndromic sagittal and metopic synostosis, and interaction of SMAD6 variants with a common polymorphism nearBMP2 (rs1884302) was...
6.
Justice C, Cuellar A, Bala K, Sabourin J, Cunningham M, Crawford K, et al.
Hum Genet
. 2020 Apr;
139(8):1077-1090.
PMID: 32266521
Our previous genome-wide association study (GWAS) for sagittal nonsyndromic craniosynostosis (sNCS) provided important insights into the genetics of midline CS. In this study, we performed a GWAS for a second...
7.
Miller K, Twigg S, McGowan S, Phipps J, Fenwick A, Johnson D, et al.
J Med Genet
. 2016 Nov;
54(4):260-268.
PMID: 27884935
Background: Craniosynostosis, the premature fusion of one or more cranial sutures, occurs in ∼1 in 2250 births, either in isolation or as part of a syndrome. Mutations in at least...
8.
Sharma V, Fenwick A, Brockop M, McGowan S, Goos J, Hoogeboom A, et al.
Nat Genet
. 2013 Jan;
45(3):304-7.
PMID: 23354436
Craniosynostosis, the premature fusion of the cranial sutures, is a heterogeneous disorder with a prevalence of ∼1 in 2,200 (refs. 1,2). A specific genetic etiology can be identified in ∼21%...