Scott M Blackman
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Explore the profile of Scott M Blackman including associated specialties, affiliations and a list of published articles.
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54
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1422
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Recent Articles
1.
Leonard A, Judware I, Vanscoy L, Paranjape S, Peeler D, Wu M, et al.
Horm Res Paediatr
. 2024 Nov;
:1-6.
PMID: 39602887
Introduction: Cystic fibrosis-related diabetes (CFRD) is linked to worsening pulmonary function and increased mortality in people with cystic fibrosis (CF). Because of this correlation, early recognition of CFRD is important....
2.
Ling H, Raraigh K, Pugh E, Aksit M, Zhang P, Pace R, et al.
Am J Hum Genet
. 2024 Sep;
111(10):2203-2218.
PMID: 39260370
To identify modifier loci underlying variation in body mass index (BMI) in persons with cystic fibrosis (pwCF), we performed a genome-wide association study (GWAS). Utilizing longitudinal height and weight data,...
3.
Sheridan M, Aksit M, Pagel K, Hetrick K, Shultz-Lutwyche H, Myers B, et al.
J Cyst Fibros
. 2024 May;
23(4):707-715.
PMID: 38734509
Background: Cystic fibrosis (CF) is caused by deleterious variants in each CFTR gene. We investigated the utility of whole-gene CFTR sequencing when fewer than two pathogenic or likely pathogenic (P/LP)...
4.
Sun Q, Yang Y, Rosen J, Chen J, Li X, Guan W, et al.
Am J Hum Genet
. 2024 Apr;
111(5):990-995.
PMID: 38636510
Since genotype imputation was introduced, researchers have been relying on the estimated imputation quality from imputation software to perform post-imputation quality control (QC). However, this quality estimate (denoted as Rsq)...
5.
Stonebraker J, Pace R, Gallins P, Dang H, Aksit M, Faino A, et al.
Hepatology
. 2024 Mar;
80(5):1012-1025.
PMID: 38536042
Background And Aims: It is not known why severe cystic fibrosis (CF) liver disease (CFLD) with portal hypertension occurs in only ~7% of people with CF. We aimed to identify...
6.
Putman M, Norris A, Hull R, Rickels M, Sussel L, Blackman S, et al.
Diabetes Care
. 2023 May;
46(6):1112-1123.
PMID: 37125948
Cystic fibrosis (CF) is a recessive disorder arising from mutations in the gene encoding the cystic fibrosis transmembrane conductance regulator (CFTR) protein. CFTR is expressed in numerous tissues, with high...
7.
Putman M, Norris A, Hull R, Rickels M, Sussel L, Blackman S, et al.
Diabetes
. 2023 May;
72(6):677-689.
PMID: 37125945
Cystic fibrosis (CF) is a recessive disorder arising from mutations in the gene encoding the cystic fibrosis transmembrane conductance regulator (CFTR) protein. CFTR is expressed in numerous tissues, with high...
8.
Zhou Y, Gallins P, Pace R, Dang H, Aksit M, Blue E, et al.
Am J Respir Crit Care Med
. 2023 Mar;
207(10):1324-1333.
PMID: 36921087
Lung disease is the major cause of morbidity and mortality in persons with cystic fibrosis (pwCF). Variability in CF lung disease has substantial non-CFTR (CF transmembrane conductance regulator) genetic influence....
9.
Pleiotropic modifiers of age-related diabetes and neonatal intestinal obstruction in cystic fibrosis
Aksit M, Ling H, Pace R, Raraigh K, Onchiri F, Faino A, et al.
Am J Hum Genet
. 2022 Oct;
109(10):1894-1908.
PMID: 36206743
Individuals with cystic fibrosis (CF) develop complications of the gastrointestinal tract influenced by genetic variants outside of CFTR. Cystic fibrosis-related diabetes (CFRD) is a distinct form of diabetes with a...
10.
Sun Q, Yang Y, Rosen J, Jiang M, Chen J, Liu W, et al.
Am J Hum Genet
. 2022 Oct;
109(11):1986-1997.
PMID: 36198314
Whole-genome sequencing (WGS) is the gold standard for fully characterizing genetic variation but is still prohibitively expensive for large samples. To reduce costs, many studies sequence only a subset of...