Mark Chilvers
Overview
Explore the profile of Mark Chilvers including associated specialties, affiliations and a list of published articles.
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24
Citations
275
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0
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Recent Articles
1.
Mastromatteo S, Chen A, Gong J, Lin F, Thiruvahindrapuram B, Sung W, et al.
HGG Adv
. 2022 Nov;
4(1):100156.
PMID: 36386424
Phasing of heterozygous alleles is critical for interpretation of -effects of disease-relevant variation. We sequenced 477 individuals with cystic fibrosis (CF) using linked-read sequencing, which display an average phase block...
2.
Role of transient elastography and APRI in the assessment of pediatric cystic fibrosis liver disease
Woolfson J, Schreiber R, Raveendran S, Chilvers M, Barker C, Guttman O
Can Liver J
. 2022 Aug;
4(1):23-32.
PMID: 35991474
Background: Diagnosis and monitoring of cystic fibrosis liver disease (CFLD) is challenging. Transient elastography (TE) is a rapid, non-invasive method for assessing liver fibrosis. Its role in detecting fibrosis in...
3.
Gong J, He G, Wang C, Bartlett C, Panjwani N, Mastromatteo S, et al.
NPJ Genom Med
. 2022 Apr;
7(1):28.
PMID: 35396391
Over 400 variants in the cystic fibrosis (CF) transmembrane conductance regulator (CFTR) are CF-causing. CFTR modulators target variants to improve lung function, but marked variability in response exists and current...
4.
Sawicki G, Chilvers M, McNamara J, Naehrlich L, Saunders C, Sermet-Gaudelus I, et al.
J Cyst Fibros
. 2022 Feb;
21(4):675-683.
PMID: 35190292
Background: Two previous Phase 3 studies ("parent studies") showed that tezacaftor/ivacaftor was generally safe and efficacious for up to 24 weeks in children 6 through 11 years of age with...
5.
Lin Y, Keenan K, Gong J, Panjwani N, Avolio J, Lin F, et al.
Genet Med
. 2021 Aug;
23(11):2235-2236.
PMID: 34389817
No abstract available.
6.
Hoppe J, Chilvers M, Ratjen F, McNamara J, Owen C, Tian S, et al.
Lancet Respir Med
. 2021 May;
9(9):977-988.
PMID: 33965000
Background: A previous phase 3 study showed that lumacaftor-ivacaftor was generally safe and well tolerated over 24 weeks of treatment in children aged 2-5 years with cystic fibrosis homozygous for...
7.
Lin Y, Keenan K, Gong J, Panjwani N, Avolio J, Lin F, et al.
Genet Med
. 2021 Jan;
23(5):927-933.
PMID: 33500570
Purpose: Cystic fibrosis (CF), caused by pathogenic variants in the CF transmembrane conductance regulator (CFTR), affects multiple organs including the exocrine pancreas, which is a causal contributor to cystic fibrosis-related...
8.
Sinclair G, McMahon V, Schellenberg A, Nelson T, Chilvers M, Vallance H
Int J Neonatal Screen
. 2020 Oct;
6(2):46.
PMID: 33073036
Newborn screening for Cystic Fibrosis has been implemented in most programs worldwide, but the approach used varies, including combinations of immunoreactive trypsinogen (IRT) and CFTR mutation analysis on one or...
9.
Lee M, Yang Hu X, Desai S, Kwong E, Fu J, Flores E, et al.
J Cyst Fibros
. 2020 Sep;
20(1):57-60.
PMID: 32900673
There remains a limited understanding of the factors influencing clinical trial participation for individuals with Cystic Fibrosis (CF). A comprehensive survey was developed to examine the interests, preferences, and barriers/facilitators...
10.
Walker S, Flume P, McNamara J, Solomon M, Chilvers M, Chmiel J, et al.
J Cyst Fibros
. 2019 Jun;
18(5):708-713.
PMID: 31253540
Background: Tezacaftor/ivacaftor is a new treatment option in many regions for patients aged ≥12 years who are homozygous (F/F) or heterozygous for the F508del-CFTR mutation and a residual function (F/RF)...