关注
Karen Raraigh
Karen Raraigh
其他姓名Karen Siklosi
Genetic counselor, Johns Hopkins University
在 jhmi.edu 的电子邮件经过验证
标题
引用次数
引用次数
年份
The future of cystic fibrosis care: a global perspective
SC Bell, MA Mall, H Gutierrez, M Macek, S Madge, JC Davies, PR Burgel, ...
The Lancet Respiratory Medicine 8 (1), 65-124, 2020
8092020
Defining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator gene
PR Sosnay, S Karen R, F Van Goor, K Kaniecki, H Yu, N Sharma, ...
Nature Genetics 45 (10), 1160-7, 2013
6872013
Genome-wide association meta-analysis identifies five modifier loci of lung disease severity in cystic fibrosis
H Corvol, SM Blackman, PY Boëlle, PJ Gallins, RG Pace, JR Stonebraker, ...
Nature communications 6 (1), 8382, 2015
2952015
Residual function of cystic fibrosis mutants predicts response to small molecule CFTR modulators
ST Han, A Rab, MJ Pellicore, EF Davis, AF McCague, TA Evans, AT Joynt, ...
JCI insight 3 (14), 2018
962018
Systematic computational identification of variants that activate exonic and intronic cryptic splice sites
M Lee, P Roos, N Sharma, M Atalar, TA Evans, MJ Pellicore, E Davis, ...
The American Journal of Human Genetics 100 (5), 751-765, 2017
852017
Correlating cystic fibrosis transmembrane conductance regulator function with clinical features to inform precision treatment of cystic fibrosis
AF McCague, KS Raraigh, MJ Pellicore, EF Davis-Marcisak, TA Evans, ...
American journal of respiratory and critical care medicine 199 (9), 1116-1126, 2019
832019
Functional assays are essential for interpretation of missense variants associated with variable expressivity
KS Raraigh, ST Han, E Davis, TA Evans, MJ Pellicore, AF McCague, ...
The American Journal of Human Genetics 102 (6), 1062-1077, 2018
802018
Applying cystic fibrosis transmembrane conductance regulator genetics and CFTR2 data to facilitate diagnoses
PR Sosnay, DB Salinas, TB White, CL Ren, PM Farrell, KS Raraigh, ...
The Journal of Pediatrics 181, S27-S32. e1, 2017
782017
Sources of variation in sweat chloride measurements in cystic fibrosis
JM Collaco, SM Blackman, KS Raraigh, H Corvol, JM Rommens, ...
American journal of respiratory and critical care medicine 194 (11), 1375-1382, 2016
732016
Experimental assessment of splicing variants using expression minigenes and comparison with in silico predictions
N Sharma, PR Sosnay, AS Ramalho, C Douville, A Franca, LB Gottschalk, ...
Human mutation 35 (10), 1249-1259, 2014
672014
Molecular genetics of cystic fibrosis transmembrane conductance regulator: genotype and phenotype
PR Sosnay, KS Raraigh, RL Gibson
Pediatric Clinics 63 (4), 585-598, 2016
652016
Capitalizing on the heterogeneous effects of CFTR nonsense and frameshift variants to inform therapeutic strategy for cystic fibrosis
N Sharma, TA Evans, MJ Pellicore, E Davis, MA Aksit, AF McCague, ...
PLoS genetics 14 (11), e1007723, 2018
542018
Genetic modifiers of cystic fibrosis-related diabetes have extensive overlap with type 2 diabetes and related traits
MA Aksit, RG Pace, B Vecchio-Pagán, H Ling, JM Rommens, PY Boelle, ...
The Journal of Clinical Endocrinology & Metabolism 105 (5), 1401-1415, 2020
492020
Informed consent for exome sequencing research in families with genetic disease: the emerging issue of incidental findings
AL Bergner, J Bollinger, KS Raraigh, C Tichnell, B Murray, CL Blout, ...
American Journal of Medical Genetics Part A 164 (11), 2745-2752, 2014
452014
Loss of carbonic anhydrase XII function in individuals with elevated sweat chloride concentration and pulmonary airway disease
M Lee, B Vecchio-Pagán, N Sharma, A Waheed, X Li, KS Raraigh, ...
Human molecular genetics 25 (10), 1923-1933, 2016
422016
Benign and deleterious cystic fibrosis transmembrane conductance regulator mutations identified by sequencing in positive cystic fibrosis newborn screen children from California
DB Salinas, PR Sosnay, C Azen, S Young, KS Raraigh, TG Keens, ...
PLoS One 11 (5), e0155624, 2016
402016
Development, validation, and implementation of a questionnaire assessing disease knowledge and understanding in adult cystic fibrosis patients
KR Siklosi, CG Gallagher, EF McKone
Journal of Cystic Fibrosis 9 (6), 400-5, 2010
382010
Benign outcome among positive cystic fibrosis newborn screen children with non-CF-causing variants
DB Salinas, PR Sosnay, C Azen, S Young, KS Raraigh, TG Keens, ...
Journal of Cystic Fibrosis 14 (6), 714-719, 2015
372015
Standards of care for CFTR variant-specific therapy (including modulators) for people with cystic fibrosis
KW Southern, C Castellani, E Lammertyn, A Smyth, D VanDevanter, ...
Journal of Cystic Fibrosis 22 (1), 17-30, 2023
342023
Ethnicity impacts the cystic fibrosis diagnosis: a note of caution
B Bosch, D Bilton, P Sosnay, KS Raraigh, DYF Mak, H Ishiguro, ...
Journal of Cystic Fibrosis 16 (4), 488-491, 2017
342017
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