المؤلفون: 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

المصدر: Frontiers in Oncology, Vol 13 (2024)

مصطلحات موضوعية: somatic and germline integration, INT2GRATE, tumor signature profile, germline VUS, Lynch syndrome, Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fonc.2023.1284690/full; https://doaj.org/toc/2234-943X

URL الوصول: https://doaj.org/article/6d8a9b32038a4cdca4bc04f27dba67f4

المؤلفون: Alison Schwartz Levine, Bita Nehoray, Sophie Cahill, Aleck Cervantes, Megan Frone, Christopher Amos, Stephen Gruber, Judy Garber

المصدر: Genetics in Medicine Open, Vol 2, Iss , Pp 100972- (2024)

مصطلحات موضوعية: Genetics, QH426-470, Medicine

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2949774424001183; https://doaj.org/toc/2949-7744

URL الوصول: https://doaj.org/article/434def4328fc48a5a4b6c2594b0426ff

المؤلفون: 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

المصدر: Frontiers in Oncology, Vol 12 (2022)

مصطلحات موضوعية: somatic and germline integration, tumor signature profile, germline VUS, lynch syndrome, paraganglioma, Li-Fraumeni syndrome, Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fonc.2022.942741/full; https://doaj.org/toc/2234-943X

URL الوصول: https://doaj.org/article/16388d6d31534f26bcb25927bd33d184

المؤلفون: 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

المصدر: MethodsX, Vol 9, Iss , Pp 101761- (2022)

مصطلحات موضوعية: Integrated somatic and germline NGS, Germline variant interpretation, Loss of heterozygosity (LOH), Von Hippel-Lindau syndrome, VHL gene, Science

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2215016122001418; https://doaj.org/toc/2215-0161

URL الوصول: https://doaj.org/article/87e8e139773c4bc2a908d6f6e6aedd90

المؤلفون: Danielle K. Manning, Priyanka Shivdasani, Diane R. Koeller, Alison Schwartz, Huma Q. Rana, Judy E. Garber, Neal I. Lindeman, Arezou A. Ghazani

المصدر: Data in Brief, Vol 39, Iss , Pp 107653- (2021)

مصطلحات موضوعية: Matched tumor-germline data, Von Hippel-Lindau, VHL gene, Next generation sequencing, Renal cell carcinoma, Hemangioblastoma, Computer applications to medicine. Medical informatics, R858-859.7, Science (General), Q1-390

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2352340921009288; https://doaj.org/toc/2352-3409

URL الوصول: https://doaj.org/article/2639378a2e4349219113d5d0a39e0357

المؤلفون: Huma Q. Rana, Diane R. Koeller, McKenzie Walker, Busra Unal, Alison Schwartz Levine, Anu Chittenden, Raymond A. Isidro, Connor P. Hayes, Monica D. Manam, Ryan M. Buehler, Danielle K. Manning, Justine A. Barletta, Jason L. Hornick, Judy E. Garber, Arezou A. Ghazani

المصدر: Cancers, Vol 16, Iss 5, p 947 (2024)

مصطلحات موضوعية: INT 2 GRATE Oncology Consortium, somatic and germline integration, INT 2 GRATE, tumor signature profile, germline VUS, hereditary paraganglioma–pheochromocytoma syndromes (HPPGLs), Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282

Relation: https://www.mdpi.com/2072-6694/16/5/947; https://doaj.org/toc/2072-6694; https://doaj.org/article/9ac0d0ed287c4142a6b82ba22a827c2d

الاتاحة: https://doi.org/10.3390/cancers16050947
https://doaj.org/article/9ac0d0ed287c4142a6b82ba22a827c2d

المؤلفون: 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

مصطلحات موضوعية: Cancer, Cancer Cell Biology, Cancer Diagnosis, Cancer Genetics, Cancer Therapy (excl. Chemotherapy and Radiation Therapy), Chemotherapy, Haematological Tumours, Molecular Targets, Radiation Therapy, Solid Tumours, Oncology and Carcinogenesis not elsewhere classified, somatic and germline integration, INT2GRATE, tumor signature profile, germline VUS, Lynch syndrome

Relation: https://figshare.com/articles/dataset/Table_2_Development_and_evaluation_of_INT2GRATE_a_platform_for_comprehensive_assessment_of_the_role_of_germline_variants_informed_by_tumor_signature_profile_in_Lynch_syndrome_xlsx/25071446

الاتاحة: https://doi.org/10.3389/fonc.2023.1284690.s003
https://figshare.com/articles/dataset/Table_2_Development_and_evaluation_of_INT2GRATE_a_platform_for_comprehensive_assessment_of_the_role_of_germline_variants_informed_by_tumor_signature_profile_in_Lynch_syndrome_xlsx/25071446

المؤلفون: Rana, Huma Q., Koeller, Diane R., Walker, McKenzie, Unal, Busra, Levine, Alison Schwartz, Chittenden, Anu, Isidro, Raymond A., Hayes, Connor P., Manam, Monica D., Buehler, Ryan M., Manning, Danielle K., Barletta, Justine A., Hornick, Jason L., Garber, Judy E., Ghazani, Arezou A.

المصدر: Cancers; Mar2024, Vol. 16 Issue 5, p947, 29p

مصطلحات موضوعية: PARAGANGLIOMA, ONCOLOGY, GENETIC variation, GENETIC disorders, ACCURACY, PHEOCHROMOCYTOMA, GENOMES, DISEASE progression

المؤلفون: Sophie Hyman, Jeffrey N. Weitzel, Huma Q. Rana, Samantha Stokes, Judy Garber, Danielle Castillo, Alison Schwartz, Nadine Tung

المصدر: JCO Precision Oncology. :1677-1686

مصطلحات موضوعية: Cancer Research, Oncology, Saliva testing, Somatic cell, Immunology, In patient, Biology, Phenotype, Peripheral blood, Likely pathogenic, Germline

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::44dad8a176fa76e76bf5da830655b2e8
https://doi.org/10.1200/po.21.00278

المؤلفون: Ibrahim Elsharkawi, Marilyn J. Bull, Reem Hasan, Ashley Lamb, Brian G. Skotko, Amy Torres, Vasiliki Patsiogiannis, Karen Donelan, Jawanda Mast, Eric A. Macklin, Ariel Frey-Vogel, Maureen Gallagher, Sandra Baker, Alison Schwartz, Mark Wylie, Sarah Cullen, Melissa Skavlem, Yichuan Grace Hsieh, Brian Chicoine, Karen Sepucha, Stephanie L. Santoro, Stephen Lorenz, Patricia E. Bauer, Greg Estey, Holly A. Parker, Travis Riddell, Lisa Majewski, Lloyd Clarke, Jeanhee Chung

المصدر: Genetics in Medicine. 23:163-173

مصطلحات موضوعية: Down syndrome clinic, Down syndrome, medicine.medical_specialty, business.industry, Health Personnel, Personal Satisfaction, Intervention group, Primary care, medicine.disease, Digital health, law.invention, Primary outcome, Caregivers, Randomized controlled trial, law, Usual care, medicine, Physical therapy, Humans, Down Syndrome, Child, business, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a1d4be92a3c203b883ee5cb431711872
https://doi.org/10.1038/s41436-020-00952-7

المؤلفون: 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

مصطلحات موضوعية: Cancer, Cancer Cell Biology, Cancer Diagnosis, Cancer Genetics, Cancer Therapy (excl. Chemotherapy and Radiation Therapy), Chemotherapy, Haematological Tumours, Molecular Targets, Radiation Therapy, Solid Tumours, Oncology and Carcinogenesis not elsewhere classified, somatic and germline integration, tumor signature profile, germline VUS, lynch syndrome, paraganglioma, Li-Fraumeni syndrome

Relation: https://figshare.com/articles/dataset/Table_2_An_integrated_somatic_and_germline_approach_to_aid_interpretation_of_germline_variants_of_uncertain_significance_in_cancer_susceptibility_genes_docx/20623416

الاتاحة: https://doi.org/10.3389/fonc.2022.942741.s002
https://figshare.com/articles/dataset/Table_2_An_integrated_somatic_and_germline_approach_to_aid_interpretation_of_germline_variants_of_uncertain_significance_in_cancer_susceptibility_genes_docx/20623416

المؤلفون: Rebecca A. Vanderwall, Alison Schwartz, Lindsay Kipnis, Catherine M. Skefos, Samantha M. Stokes, Nizar Bhulani, Michelle Weitz, Rebecca Gelman, Judy E. Garber, Huma Q. Rana

المصدر: Journal of the National Comprehensive Cancer Network : JNCCN. 20(8)

مصطلحات موضوعية: Male, Oncology, Neoplasms, Humans, Female, Genetic Counseling, Genetic Testing, Patient Reported Outcome Measures, Electronics, Middle Aged

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::eec92736a7732f31d46338b40d223976
https://pubmed.ncbi.nlm.nih.gov/35948032

المؤلفون: 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

المصدر: Cancer genetics.

مصطلحات موضوعية: Cancer Research, Microphthalmia-Associated Transcription Factor, Skin Neoplasms, Genetics, Humans, Female, Genetic Predisposition to Disease, Middle Aged, Molecular Biology, Melanoma, Germ-Line Mutation

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5ec90ccbdcd529913dfd7234cb93bf22
https://pubmed.ncbi.nlm.nih.gov/35220194

المؤلفون: Bita Nehoray, Alison Schwartz, Sophie Hyman, Samantha Stokes, Aleck Cervantes, Christopher Amos, Stephen B. Gruber, Judy Ellen Garber

المصدر: Journal of Clinical Oncology. 40:10612-10612

مصطلحات موضوعية: Cancer Research, Oncology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::bf0076b23223eb6d49eb2209feecad48
https://doi.org/10.1200/jco.2022.40.16_suppl.10612

المؤلفون: Sherman Law, Andrew M. Lowy, Judy Garber, Jill E. Stopfer, Catherine C. Lafferty, Nicolette J. Rodriguez, Barbara J. Kenner, Scott H. Nelson, Sapna Syngal, Tara Coffin, Sydney Okumura, Chinedu Ukaegbu, Anirban Maitra, Pamela E. Constantinou, Meghan Underhill-Blazey, Eliana R. Talcove-Berko, Allyson J. Ocean, Alison P. Klein, C. Sloane Furniss, Michael Goggins, Alison Schwartz, Alicia Y. Zhou, Scott M. Lippman, Lisa Madlensky, Hajime Uno, Florencia McAllister, Gloria M. Petersen, Matthew B. Yurgelun

المصدر: Cancer Prev Res (Phila)

مصطلحات موضوعية: Oncology, Adult, Male, Cancer Research, medicine.medical_specialty, endocrine system diseases, Adolescent, PALB2, Disease, Risk Assessment, Article, Young Adult, Germline mutation, CDKN2A, Risk Factors, Pancreatic cancer, Internal medicine, Surveys and Questionnaires, Medicine, Humans, Genetic Predisposition to Disease, Genetic Testing, Family history, Germ-Line Mutation, Genetic testing, Aged, Aged, 80 and over, BRCA2 Protein, medicine.diagnostic_test, Models, Genetic, business.industry, BRCA1 Protein, Cancer, Middle Aged, medicine.disease, digestive system diseases, Telemedicine, Pancreatic Neoplasms, Female, Patient Participation, business, Carcinoma, Pancreatic Ductal

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2ccbfc566b579581fd4640b1d721ba00
https://pubmed.ncbi.nlm.nih.gov/34625409

المؤلفون: Fei Dong, Diane R. Koeller, Danielle K. Manning, Neal I. Lindeman, Judy Garber, Arezou A. Ghazani, Alison Schwartz

المصدر: The American Journal of Case Reports

مصطلحات موضوعية: Male, Genes, APC, Adenomatous polyposis coli, Colorectal cancer, Adenomatous Polyposis Coli Protein, 030204 cardiovascular system & hematology, Germline, 03 medical and health sciences, 0302 clinical medicine, Germline mutation, medicine, Humans, Family history, Carcinoma, Renal Cell, Gene, Germ-Line Mutation, Genetic testing, Aged, 80 and over, Genetics, medicine.diagnostic_test, biology, business.industry, Articles, General Medicine, medicine.disease, Phenotype, Germ Cells, Adenomatous Polyposis Coli, 030220 oncology & carcinogenesis, biology.protein, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::06101021d54bbe2ee0255d734376696b
https://doi.org/10.12659/ajcr.927293

المؤلفون: Amy Torres, Steven Lorenz, Stephanie L. Santoro, Holly A. Parker, Jawanda Mast, Ibrahim Elsharkawi, Eric A. Macklin, Marilyn J. Bull, Brian Chicoine, Reem Hasan, Ashley Lamb, Brian G. Skotko, Sarah Cullen, Karen Sepucha, Yichuan Grace Hsieh, Vasiliki Patsiogiannis, Alison Schwartz, Lloyd Clark, Gregory Estey, Sandra Baker, Melissa Skavlem, Travis Riddell, Ariel Frey-Vogel, Mark Wylie, Maureen Gallagher, Karen Donelan, Patricia E. Bauer, Jeanhee Chung, Lisa Majewski

مصطلحات موضوعية: Health services, Down syndrome, Nursing, business.industry, medicine, Web application, Business, medicine.disease

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::4939cf6b27b88478a124309bf414cb2e
https://doi.org/10.25302/10.2020.ad.150731567

المؤلفون: Lisa Madlensky, Hajime Uno, Florencia McAllister, Matthew B. Yurgelun, Sherman Law, Pamela E. Constantinou, Tara Coffin, Allyson J. Ocean, Meghan L Underhill-Blazey, Alicia Y. Zhou, Jill E. Stopfer, Scott M. Lippman, Nicolette J. Rodriguez, Constance Sloane Furniss, Alison Schwartz, Barbara J. Kenner, Judy Garber, Gloria M. Petersen, Alison P. Klein, Andrew M. Lowy, Michael Goggins, Sydney Okumura, Anirban Maitra, Chinedu Ukaegbu, Sapna Syngal, Scott H. Nelson

المصدر: Cancer Research. 81:PO-013

مصطلحات موضوعية: Cancer Research, medicine.medical_specialty, medicine.diagnostic_test, business.industry, PALB2, Cancer, medicine.disease, Penetrance, Patient advocacy, Distress, Oncology, CDKN2A, Family medicine, medicine, Risk assessment, business, Genetic testing

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::b35dca6da05def19867e8f2bdeba8f84
https://doi.org/10.1158/1538-7445.panca21-po-013

المؤلفون: Tomi L. Toler, Susan Sparks, Jenifer Lavigne, Emily Davidson, Lauren Voelz, Brian G. Skotko, Alison Schwartz, Jordan Lyerly, Al Ozonoff, Priya S. Kishnani, Jose C. Florez, Blythe G. Crissman, Kara Stock-Guild, Angela Lombardo, Kathryn L. Berrier, Nicole Bäumer, Ibrahim Elsharkawi, Christianne Sharr, Sheila Cannon, Mary Ellen McDonough, Kishore Vellody, Campbell Brasington

المصدر: American Journal of Medical Genetics Part A. 173:1539-1545

مصطلحات موضوعية: Adult, Male, 0301 basic medicine, endocrine system, Pediatrics, medicine.medical_specialty, Down syndrome, Adolescent, endocrine system diseases, Population, Thyroid Gland, Specialty, Thyrotropin, 030209 endocrinology & metabolism, Thyroid Function Tests, 030105 genetics & heredity, 03 medical and health sciences, 0302 clinical medicine, Hypothyroidism, Thyroid dysfunction, Genetics, medicine, Humans, In patient, Registries, Medical diagnosis, Child, education, Genetics (clinical), Aged, education.field_of_study, business.industry, Thyroid disease, Infant, Middle Aged, medicine.disease, Thyroid Diseases, Thyroid disorder, Thyroxine, Child, Preschool, Female, Down Syndrome, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d712daf7f56f47d363cc78c90d8e30d5
https://doi.org/10.1002/ajmg.a.38219

المؤلفون: Alison Schwartz, Jeffrey N. Weitzel, Judy Garber, Huma Q. Rana, Danielle Castillo, Samantha Stokes, Sophie Hyman

المصدر: Journal of Clinical Oncology. 39:10501-10501

مصطلحات موضوعية: Cancer Research, Saliva, business.industry, Cancer, medicine.disease, Phenotype, Oncology, Li–Fraumeni syndrome, Immunology, Medicine, Hereditary Cancer, In patient, business, Clinical evaluation, Likely pathogenic

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::80f0236c7521269410d61b0ec0f1244c
https://doi.org/10.1200/jco.2021.39.15_suppl.10501