Zobrazeno 1 - 10
of 44
pro vyhledávání: '"Diane R, Koeller"'
Autor:
Raymond A. Isidro, Anu Chittenden, McKenzie Walker, Alison Schwartz, Diane R. Koeller, Connor P. Hayes, Busra Unal, Monica Devi Manam, Ryan M. Buehler, Danielle K. Manning, Lynette M. Sholl, Mark S. Redston, Matthew B. Yurgelun, Huma Q. Rana, Judy E. Garber, Arezou A. Ghazani
Publikováno v:
Frontiers in Oncology, Vol 13 (2024)
The presence of variants of uncertain significance (VUS) in DNA mismatch repair (MMR) genes leads to uncertainty in the clinical management of patients being evaluated for Lynch syndrome (LS). Currently, there is no platform to systematically use tum
Externí odkaz:
https://doaj.org/article/6d8a9b32038a4cdca4bc04f27dba67f4
Autor:
Alison Schwartz, Danielle K. Manning, Diane R. Koeller, Anu Chittenden, Raymond A. Isidro, Connor P. Hayes, Feruza Abraamyan, Monica Devi Manam, Meaghan Dwan, Justine A. Barletta, Lynette M. Sholl, Matthew B. Yurgelun, Huma Q. Rana, Judy E. Garber, Arezou A. Ghazani
Publikováno v:
Frontiers in Oncology, Vol 12 (2022)
Genomic profiles of tumors are often unique and represent characteristic mutational signatures defined by DNA damage or DNA repair response processes. The tumor-derived somatic information has been widely used in therapeutic applications, but it is g
Externí odkaz:
https://doaj.org/article/16388d6d31534f26bcb25927bd33d184
Autor:
Danielle K. Manning, Priyanka Shivdasani, Diane R. Koeller, Alison Schwartz, Huma Q. Rana, Judy E. Garber, Neal I. Lindeman, Arezou A. Ghazani
Publikováno v:
Data in Brief, Vol 39, Iss , Pp 107653- (2021)
Von Hippel-Lindau (VHL) syndrome is a hereditary cancer genetic condition associated with inactivating pathogenic alterations in the VHL tumor suppressor gene located at 3p (short arm of chromosome 3). Classic features of VHL include clear cell renal
Externí odkaz:
https://doaj.org/article/2639378a2e4349219113d5d0a39e0357
Autor:
Diane R. Koeller, Danielle K. Manning, Alison Schwartz, Anu Chittenden, Connor P. Hayes, Feruza Abraamyan, Huma Q. Rana, Neal I. Lindeman, Judy E. Garber, Arezou A. Ghazani
Publikováno v:
MethodsX, Vol 9, Iss , Pp 101761- (2022)
The interpretation of hereditary genetic sequencing variants is often limited due to the absence of functional data and other key evidence to assess the role of variants in disease. Cancer genetics is unique, as two sets of genomic information are of
Externí odkaz:
https://doaj.org/article/87e8e139773c4bc2a908d6f6e6aedd90
Publikováno v:
J Community Genet
Recent genetic research has explored how genetic variants may contribute to gender dysphoria and transgender and gender-diverse (TGD) identities. When investigating communities that have been marginalized, it is important for researchers to incorpora
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::75c9d77ee0c6d104e5ea161397ba4e6a
https://doi.org/10.1007/s12687-021-00554-z
https://doi.org/10.1007/s12687-021-00554-z
Autor:
Whitney, Espinel, Marjan, Champine, Heather, Hampel, Joanne, Jeter, Kevin, Sweet, Robert, Pilarski, Rachel, Pearlman, Kate, Shane, Pamela, Brock, Judith A, Westman, Lindsay, Kipnis, Jilliane, Sotelo, Anu, Chittenden, Samantha, Culver, Jill E, Stopfer, Katherine A, Schneider, Rosalba, Sacca, Diane R, Koeller, Shraddha, Gaonkar, Erica, Vaccari, Sarah, Kane, Scott T, Michalski, Shan, Yang, Sarah M, Nielsen, Sara L, Bristow, Stephen E, Lincoln, Robert L, Nussbaum, Edward D, Esplin
Publikováno v:
Cancers. 14(10)
Consensus guidelines for hereditary breast and ovarian cancer include management recommendations for pathogenic/likely pathogenic (P/LP) variants in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::24cf0bd64bd4582859098cbce772d872
https://pubmed.ncbi.nlm.nih.gov/35626031
https://pubmed.ncbi.nlm.nih.gov/35626031
Publikováno v:
Journal of genetic counseling. 31(5)
Transgender and/or gender non-binary (TGNB) individuals face significant health care disparities, including deficiencies in provider knowledge. To address this knowledge gap for genetic counselors, we developed, implemented, and analyzed an education
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b23be52cee06dfb2928331231eb0197f
https://pubmed.ncbi.nlm.nih.gov/35460542
https://pubmed.ncbi.nlm.nih.gov/35460542
Autor:
Diane R. Koeller, Alison Schwartz, Mia S. DeSimone, Huma Q. Rana, Vanesa Rojas-Rudilla, Eleanor Russell-Goldman, Alvaro C. Laga, Neal I. Lindeman, Judy E. Garber, Arezou A. Ghazani
Publikováno v:
Cancer genetics.
Vulvar melanoma is a rare and aggressive cancer with a poor prognosis. The etiology of mucosal melanoma remains largely uncharacterized and no hereditary risk factors are established for this rare disease. While the germline variant MITF p.E318K conf
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5ec90ccbdcd529913dfd7234cb93bf22
https://pubmed.ncbi.nlm.nih.gov/35220194
https://pubmed.ncbi.nlm.nih.gov/35220194
Autor:
Neal I. Lindeman, Judy Garber, Alison Schwartz, Danielle K. Manning, Priyanka Shivdasani, Diane R. Koeller, Huma Q. Rana, Arezou A. Ghazani
Publikováno v:
Data Brief
Data in Brief, Vol 39, Iss, Pp 107653-(2021)
Data in Brief, Vol 39, Iss, Pp 107653-(2021)
Von Hippel-Lindau (VHL) syndrome is a hereditary cancer genetic condition associated with inactivating pathogenic alterations in the VHL tumor suppressor gene located at 3p (short arm of chromosome 3). Classic features of VHL include clear cell renal
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::47584dbb575547e2c08f982f4d379397
https://doi.org/10.1016/j.dib.2021.107653
https://doi.org/10.1016/j.dib.2021.107653
Autor:
Fei Dong, Diane R. Koeller, Danielle K. Manning, Neal I. Lindeman, Judy Garber, Arezou A. Ghazani, Alison Schwartz
Publikováno v:
The American Journal of Case Reports
Patient: Male, 80-year-old Final Diagnosis: Attenuated APC-associated polyposis Symptoms: Colon polyps • renal carcinoma Medication: — Clinical Procedure: — Specialty: Genetics Objective: Unusual clinical course Background: The diagnoses of ade
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::06101021d54bbe2ee0255d734376696b
https://doi.org/10.12659/ajcr.927293
https://doi.org/10.12659/ajcr.927293