Louise Christie
Overview
Explore the profile of Louise Christie including associated specialties, affiliations and a list of published articles.
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12
Citations
236
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Recent Articles
1.
Schofield D, Shrestha R, Tan O, Lim K, Rajkumar R, West S, et al.
Int J Environ Res Public Health
. 2024 Mar;
21(3).
PMID: 38541298
Most of the studies on the cost of intellectual disability are limited to a healthcare perspective or cohorts composed of individuals where the etiology of the condition is a mixture...
2.
Leffler M, Christie L, Hackett A, Bennetts B, Goel H, Amor D, et al.
Clin Genet
. 2023 Jan;
103(6):681-687.
PMID: 36688272
The low copy tandem repeat area at Xq28 is prone to recurrent copy number gains, including the K/L mediated duplications of 300 kb size (herein described as the K/L mediated...
3.
Field M, Kumar R, Hackett A, Kayumi S, Shoubridge C, Ewans L, et al.
Hum Mutat
. 2021 Apr;
42(7):835-847.
PMID: 33847015
The pioneering discovery research of X-linked intellectual disability (XLID) genes has benefitted thousands of individuals worldwide; however, approximately 30% of XLID families still remain unresolved. We postulated that noncoding variants...
4.
Wotton T, Wiley V, Bennetts B, Christie L, Wilcken B, Jenkins G, et al.
Int J Neonatal Screen
. 2020 Oct;
4(1):9.
PMID: 33072935
Fragile X syndrome (FXS) is the most prevalent heritable cause of cognitive impairment but is not yet included in a newborn screening (NBS) program within Australia. This paper aims to...
5.
Khayat W, Hackett A, Shaw M, Ilie A, Dudding-Byth T, Kalscheuer V, et al.
Hum Mol Genet
. 2018 Oct;
28(4):598-614.
PMID: 30335141
We report two unrelated families with multigenerational nonsyndromic intellectual disability (ID) segregating with a recurrent de novo missense variant (c.1543C>T:p.Leu515Phe) in the alkali cation/proton exchanger gene SLC9A7 (also commonly referred...
6.
Shaw M, Yap T, Henden L, Bahlo M, Gardner A, Kalscheuer V, et al.
Eur J Med Genet
. 2015 May;
58(6-7):364-8.
PMID: 25934484
Mutations in the L1 Cell Adhesion Molecule (L1CAM) gene (MIM#308840) cause a variety of X-linked recessive neurological disorders collectively called L1 syndrome. Using massively parallel sequencing (MPS) of the X-chromosome...
7.
Delatycki M, Burke J, Christie L, Collins F, Gabbett M, George P, et al.
Twin Res Hum Genet
. 2014 Nov;
17(6):578-83.
PMID: 25431289
Since the discovery in 1989 that mutations in cystic fibrosis transmembrane conductance regulator (CFTR) underlie cystic fibrosis (CF), the most common life shortening genetic disorder in Caucasians, it has been...
8.
Christie L, Wotton T, Bennetts B, Wiley V, Wilcken B, Rogers C, et al.
Am J Med Genet A
. 2013 Jan;
161A(2):301-11.
PMID: 23303663
Although fragile X syndrome (FXS) is the commonest cause of inherited intellectual disability the mean age of diagnosis in Australia is 5.5 years. Newborn screening for FXS can provide an...
9.
Field M, Scheffer I, Gill D, Wilson M, Christie L, Shaw M, et al.
Eur J Hum Genet
. 2012 Feb;
20(7):806-9.
PMID: 22353940
Using a combination of linkage mapping and massively parallel sequencing of the X-chromosome exome, we identified an 18-bp deletion in exon 8 of the oral-facial-digital syndrome type 1 (OFD1) gene...
10.
Ronan A, Fagan K, Christie L, Conroy J, Nowak N, Turner G
BMJ Case Rep
. 2011 Jun;
2009.
PMID: 21686961
A 4.3 Mb duplication of chromosome 21 bands q22.13-q22.2 was diagnosed by interphase fluorescent in situ hybridisation (FISH) in a 31 week gestational age baby with cystic hygroma and hydrops;...