Zobrazeno 1 - 10 of 19 pro vyhledávání: '"Jessica B, Mandell"'
2
Data from Contribution of Inherited Mutations in the BRCA2-Interacting Protein PALB2 to Familial Breast Cancer
Autor: Mary-Claire King, John A. Stamatoyannopoulos, Ming K. Lee, Jessica B. Mandell, Sunday Stray, Tom Walsh, Barbara M. Norquist, Silvia Casadei
Inherited mutations in the BRCA2-interacting protein PALB2 are known to be associated with increased risks of developing breast cancer. To evaluate the contribution of PALB2 to familial breast cancer in the United States, we sequenced the coding sequ
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5c3f2bd78517ec4fab64a177cd778733
https://doi.org/10.1158/0008-5472.c.6502781.v1
Zobrazit plný text záznamu
3
CRISPR–Cas9/long-read sequencing approach to identify cryptic mutations in BRCA1 and other tumour suppressor genes
Autor: Tom Walsh, Silvia Casadei, Katherine M. Munson, Mary Eng, Jessica B. Mandell, Mary Claire King, Suleyman Gulsuner
Publikováno v: Journal of Medical Genetics. 58:850-852
Current clinical approaches for mutation discovery are based on short sequence reads (100–300 bp) of exons and flanking splice sites targeted by multigene panels or whole exomes. Short-read sequencing is highly accurate for detection of single nucl
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::41533ba6bc9e544e9affa4cdb6b6cc5c
https://doi.org/10.1136/jmedgenet-2020-107320
Zobrazit plný text záznamu
4
Characterization of splice-altering mutations in inherited predisposition to cancer
Autor: Yael Goldberg, Colin C. Pritchard, Hannah M. Kortbawi, Jessica B. Mandell, Brian H. Shirts, Zheng Tan, Ming K. Lee, Elizabeth M. Swisher, Mary Claire King, Suleyman Gulsuner, Robert O’Connor, Tom Walsh, Silvia Casadei, B. Norquist
Publikováno v: Proc Natl Acad Sci U S A
Mutations responsible for inherited disease may act by disrupting normal transcriptional splicing. Such mutations can be difficult to detect, and their effects difficult to characterize, because many lie deep within exons or introns where they may al
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::832ada019ef8ee74b4a67dd0929723b1
https://doi.org/10.1073/pnas.1915608116
Zobrazit plný text záznamu
5
CRISPR-Cas9/long-read sequencing approach to identify cryptic mutations in
Autor: Tom, Walsh, Silvia, Casadei, Katherine M, Munson, Mary, Eng, Jessica B, Mandell, Suleyman, Gulsuner, Mary-Claire, King
Publikováno v: Journal of medical genetics. 58(12)
Current clinical approaches for mutation discovery are based on short sequence reads (100-300 bp) of exons and flanking splice sites targeted by multigene panels or whole exomes. Short-read sequencing is highly accurate for detection of single nucleo
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::34c614701f6a78baab6212b524cb9f03
https://pubmed.ncbi.nlm.nih.gov/33252245
Zobrazit plný text záznamu
6
Genomic analysis of inherited breast cancer among Palestinian women: Genetic heterogeneity and a founder mutation in TP53
Autor: Ephrat Levy-Lahad, Ming K. Lee, Mary Claire King, Dima Dweik, Lara Kamal, Tamara Jaraysa, Jessica B. Mandell, Mohammad Salahat, Suhair Lolas Hamameh, Tom Walsh, Silvia Casadei, Paul Renbaum, Moein Kanaan, Amal Abu Rayyan, Suleyman Gulsuner
Publikováno v: International Journal of Cancer. 141:750-756
Breast cancer among Palestinian women has lower incidence than in Europe or North America, yet is very frequently familial. We studied genetic causes of this familial clustering in a consecutive hospital-based series of 875 Palestinian patients with
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::17461df1231e46c4afb8c39cf96c3ae3
https://doi.org/10.1002/ijc.30771
Zobrazit plný text záznamu
8
Garrod's fourth inborn error of metabolism solved by the identification of mutations causing pentosuria
Autor: Michael J. MacCoss, Sharon Zeligson, Sarah B. Pierce, Ephrat Levy-Lahad, Sunday M. Stray, Michael S. Bereman, Arno G. Motulsky, Siv Fokstuen, Jessica B. Mandell, Mary Claire King, Ming K. Lee, Cailyn Spurrell
Publikováno v: Proceedings of the National Academy of Sciences. 108:18313-18317
Pentosuria is one of four conditions hypothesized by Archibald Garrod in 1908 to be inborn errors of metabolism. Mutations responsible for the other three conditions (albinism, alkaptonuria, and cystinuria) have been identified, but the mutations res
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::824829bb13021252ba0ebd579dfde4cb
https://doi.org/10.1073/pnas.1115888108
Zobrazit plný text záznamu
9
Functional and genomic approaches reveal an ancient CHEK2 allele associated with breast cancer in the Ashkenazi Jewish population
Autor: Nathan A. Ellis, Stacey Shiovitz, Paul Renbaum, Ming K. Lee, Tom Walsh, Ephrat Levy-Lahad, Avraham Shaag, Khedoudja Nafa, Mary Claire King, Tomas Kirchhoff, Kenneth Offit, Jessica B. Mandell, Piri Welcsh
Publikováno v: ResearcherID
Functional and genomic approaches can be integrated to screen efficiently for pathogenic alleles in founder populations. We applied such approaches to analysis of the cancer-associated cell cycle regulator CHEK2 in the Ashkenazi Jewish population. We
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ac14017fc6903c2603d965948a5e934d
https://doi.org/10.1093/hmg/ddi052
Zobrazit plný text záznamu
10
Genetic counselors: translating genomic science into clinical practice
Autor: Robin L. Bennett, Joan H. Marks, Jessica B. Mandell, Heather Hampel
Publikováno v: Journal of Clinical Investigation. 112:1274-1279
In a time of emerging genetic tests and technologies, genetic counselors are faced with the challenge of translating complex genomic data into information that will aid their client's ability to learn about, understand, make, and cope with decisions
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4afc26fb9c098de391ea0f5585999b93
https://doi.org/10.1172/jci20113
Zobrazit plný text záznamu

Vyhledávací nástroje:

Upřesnit hledání

Omezení vyhledávání
Plný text Recenzováno Digitální knihovna AV ČR
Zdroje