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My major research interest is translation of new knowledge of the genetic causes of disease into diagnostic testing. The goal is to better characterize the spectrum, incidence and genotype-phenotype correlation of mutations associated with disease and to develop clinical testing in those genes with clinical utility. Dr. Weck has been co-investigator of several NIH-funded grants to implement exome/genome sequencing for diagnosis of genetic diseases from prenatal testing to adults, and is a member of the NHGRI Clinical Sequencing Evidence-Generating Research (CSER) consortium. She has been co-investigator of several institutional clinical trials to study the clinical utility of pharmacogenomics guided therapy and of the UNCseq tumor sequencing study to implement genomic sequencing for somatic mutation testing in cancer. Dr. Weck’s laboratory has developed mutation testing for genes associated with primary ciliary dyskinesia, X-linked Alport syndrome, and focal segmental glomerulosclerosis (FSGS). The UNC molecular genetics laboratory is now one of the few laboratories in the country that offers clinical genetic testing for mutations associated with these diseases.
Research Interests
Papers共 171 篇Author StatisticsCo-AuthorSimilar Experts
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Genetics in Medicine Open (2024): 101639
Victoria M. Pratt,Larisa H. Cavallari,Makenzie L. Fulmer,Andrea Gaedigk,Houda Hachad, Yuan Ji,Lisa V. Kalman,Reynold C. Ly,Ann M. Moyer,Stuart A. Scott,Amy J. Turner, Ron H.N. van Schaik,
The Journal of Molecular Diagnostics (2024)
Journal of personalized medicineno. 3 (2024): 234
The Journal of molecular diagnostics : JMDno. 9 (2023): 619-629
Genetics in medicine : official journal of the American College of Medical Geneticsno. 10 (2023): 100915-100915
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CLINICAL PHARMACOLOGY & THERAPEUTICS (2022): S65-S65
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T. Roman, I. Shyu, L. Schultz-Rogers, T. Sneddon,M. Gulley,J. Merker,J. Booker,N. Montgomery,L. Ramkissoon, J. Galeotti,K. Weck
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Laura Schultz-Rogers, Jeremy Ward,Katarzyna Jamieson, Raymond Coakley, Jason Lobo,Jessica Booker,Karen Weck, Nathan Montgomery
Genetics in Medicineno. 3 (2022): S249-S250
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Author Statistics
#Papers: 172
#Citation: 6973
H-Index: 43
G-Index: 82
Sociability: 7
Diversity: 3
Activity: 14
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