المؤلفون: Eden V. Haverfield, Edward D. Esplin, Sienna J. Aguilar, Kathryn E. Hatchell, Kelly E. Ormond, Andrea Hanson-Kahn, Paldeep S. Atwal, Sarah Macklin-Mantia, Stephanie Hines, Caron W.-M. Sak, Steven Tucker, Steven B. Bleyl, Peter J. Hulick, Ora K. Gordon, Lea Velsher, Jessica Y. J. Gu, Scott M. Weissman, Teresa Kruisselbrink, Christopher Abel, Michele Kettles, Anne Slavotinek, Bryce A. Mendelsohn, Robert C. Green, Swaroop Aradhya, Robert L. Nussbaum

المصدر: BMC Medicine, Vol 19, Iss 1, Pp 1-10 (2021)

مصطلحات موضوعية: Cardiovascular disorders, Clinical genetics, Hereditary cancer syndromes, Monogenic disorders, Population screening, Proactive genetic screening, Medicine

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1741-7015

URL الوصول: https://doaj.org/article/7ae57346a2ed465d9bdbdfb8577900b2

المؤلفون: Michael A. Thompson, Jennifer J. Godden, Deborah Wham, Antony Ruggeri, Michael P. Mullane, Amanda Wilson, Shamsuddin Virani, Scott M. Weissman, Brenda Ramczyk, Pamela Vanderwall, James L. Weese

المصدر: Journal of Patient-Centered Research and Reviews, Vol 6, Iss 1, Pp 36-45 (2019)

مصطلحات موضوعية: oncology, precision medicine, integrated health system, community, genomics, Medicine

وصف الملف: electronic resource

Relation: https://digitalrepository.aurorahealthcare.org/cgi/viewcontent.cgi?article=1639&context=jpcrr; https://doaj.org/toc/2330-0698

URL الوصول: https://doaj.org/article/1a605aa69b70462c8b16525678273cea

المؤلفون: Eden V. Haverfield, Edward D. Esplin, Sienna J. Aguilar, Kathryn E. Hatchell, Kelly E. Ormond, Andrea Hanson-Kahn, Paldeep S. Atwal, Sarah Macklin-Mantia, Stephanie Hines, Caron W.-M. Sak, Steven Tucker, Steven B. Bleyl, Peter J. Hulick, Ora K. Gordon, Lea Velsher, Jessica Y. J. Gu, Scott M. Weissman, Teresa Kruisselbrink, Christopher Abel, Michele Kettles, Anne Slavotinek, Bryce A. Mendelsohn, Robert C. Green, Swaroop Aradhya, Robert L. Nussbaum

المصدر: BMC Medicine, Vol 19, Iss 1, Pp 1-1 (2021)

مصطلحات موضوعية: Medicine

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1741-7015

URL الوصول: https://doaj.org/article/0c0c1663790f40ce8a666b2757242ff1

المؤلفون: Eden V. Haverfield (11287683), Edward D. Esplin (11287686), Sienna J. Aguilar (11287689), Kathryn E. Hatchell (11287692), Kelly E. Ormond (10515112), Andrea Hanson-Kahn (11287695), Paldeep S. Atwal (8791685), Sarah Macklin-Mantia (11287698), Stephanie Hines (9387319), Caron W.-M. Sak (11287701), Steven Tucker (11287704), Steven B. Bleyl (11287707), Peter J. Hulick (3147177), Ora K. Gordon (11287710), Lea Velsher (5520257), Jessica Y. J. Gu (11287713), Scott M. Weissman (11287716), Teresa Kruisselbrink (11287719), Christopher Abel (11287722), Michele Kettles (11287725), Anne Slavotinek (78604), Bryce A. Mendelsohn (5688410), Robert C. Green (5586524), Swaroop Aradhya (10753866), Robert L. Nussbaum (11287728)

مصطلحات موضوعية: Genetics, Cardiovascular disorders, Clinical genetics, Hereditary cancer syndromes, Monogenic disorders, Population screening, Proactive genetic screening

Relation: https://figshare.com/articles/journal_contribution/Additional_file_1_of_Physician-directed_genetic_screening_to_evaluate_personal_risk_for_medically_actionable_disorders_a_large_multi-center_cohort_study/15184830

الاتاحة: https://doi.org/10.6084/m9.figshare.15184830.v1

المؤلفون: Eden V. Haverfield (11287683), Edward D. Esplin (11287686), Sienna J. Aguilar (11287689), Kathryn E. Hatchell (11287692), Kelly E. Ormond (10515112), Andrea Hanson-Kahn (11287695), Paldeep S. Atwal (8791685), Sarah Macklin-Mantia (11287698), Stephanie Hines (9387319), Caron W.-M. Sak (11287701), Steven Tucker (11287704), Steven B. Bleyl (11287707), Peter J. Hulick (3147177), Ora K. Gordon (11287710), Lea Velsher (5520257), Jessica Y. J. Gu (11287713), Scott M. Weissman (11287716), Teresa Kruisselbrink (11287719), Christopher Abel (11287722), Michele Kettles (11287725), Anne Slavotinek (78604), Bryce A. Mendelsohn (5688410), Robert C. Green (5586524), Swaroop Aradhya (10753866), Robert L. Nussbaum (11287728)

مصطلحات موضوعية: Genetics, Cardiovascular disorders, Clinical genetics, Hereditary cancer syndromes, Monogenic disorders, Population screening, Proactive genetic screening

Relation: https://figshare.com/articles/journal_contribution/Additional_file_2_of_Physician-directed_genetic_screening_to_evaluate_personal_risk_for_medically_actionable_disorders_a_large_multi-center_cohort_study/15184833

الاتاحة: https://doi.org/10.6084/m9.figshare.15184833.v1

المؤلفون: Tiffany T Nguyen Dolphyn, Kelly E Ormond, Scott M Weissman, Helen J Kim, Chloe M Reuter

المصدر: Translational Behavioral Medicine. 13:104-114

مصطلحات موضوعية: Behavioral Neuroscience, Applied Psychology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::70b0a956d46a1f38131de08327181ce8
https://doi.org/10.1093/tbm/ibac083

المؤلفون: Spring, Holter, Michael J, Hall, Heather, Hampel, Kory, Jasperson, Sonia S, Kupfer, Joy, Larsen Haidle, Maureen E, Mork, Selvi, Palaniapppan, Leigha, Senter, Elena M, Stoffel, Scott M, Weissman, Matthew B, Yurgelun

المصدر: Journal of Genetic Counseling. 31:568-583

مصطلحات موضوعية: Counselors, Humans, Genetic Counseling, Microsatellite Instability, Genetic Testing, Americas, MutL Protein Homolog 1, Colorectal Neoplasms, Hereditary Nonpolyposis, Risk Assessment, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4b8f26e1a8f604cefbec098382fafc14
https://doi.org/10.1002/jgc4.1546

المؤلفون: Suzanne M. O'Neill, Min Seon Park, Carmen Williams, Scott M. Weissman, Caitlin Mauer, Kristen J. Vogel Postula

المصدر: Journal of genetic counselingREFERENCES. 30(6)

مصطلحات موضوعية: Counseling, medicine.medical_specialty, Genetic counseling, Genes, BRCA2, Breast Neoplasms, Genetic Counseling, 03 medical and health sciences, 0302 clinical medicine, Breast cancer, medicine, Breast MRI, Humans, Genetic Testing, Curriculum, Genetics (clinical), Genetic testing, Response rate (survey), 0303 health sciences, medicine.diagnostic_test, business.industry, 030305 genetics & heredity, Cancer, medicine.disease, United States, Counselors, 030220 oncology & carcinogenesis, Family medicine, Female, Risk assessment, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6295a60a494c2df44497bf3953e0c062
https://pubmed.ncbi.nlm.nih.gov/34076301

المؤلفون: Brianne Kirkpatrick, Scott M. Weissman, Erica Ramos

المصدر: Current opinion in pediatrics. 31(6)

مصطلحات موضوعية: Adult, Parents, Medical education, medicine.diagnostic_test, business.industry, MEDLINE, Infant, Newborn, Popularity, Pediatrics, 03 medical and health sciences, 0302 clinical medicine, Neonatal Screening, 030225 pediatrics, 030220 oncology & carcinogenesis, Direct-To-Consumer Screening and Testing, Pediatrics, Perinatology and Child Health, medicine, Humans, Genetic Testing, business, Child, Genetic testing

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::df7858f4360d972c713bbd6c159bd359
https://pubmed.ncbi.nlm.nih.gov/31693579

المؤلفون: Scott M. Weissman, Martha Quezado, Katia Nones, Manuel A. R. Ferreira, Florian Grimpen, Sue Healey, Kelly Hamman, Samantha Hansford, Kasmintan A. Schrader, Anne Marie Patch, Itzhak Avital, Daniel L. Worthley, Pardeep Kaurah, Robertson MacKenzie, Juliet D. French, Evangelos Bellos, Jun Li, Kevin P. Rioux, George Chong, Georgia Chenevix-Trench, Leonard Da Silva, Kathleen A. Calzone, Graeme Suthers, Deborah W. Neklason, Andrew D. Clouston, Hilary C. Martin, Paul S. Meltzer, Jone E. Sampson, Kerry Phillips, Oliver F. Bathe, Theo Heller, Nicola K. Poplawski, Stacey L. Edwards, Peter T. Simpson, Alireza Heravi-Moussavi, David G. Huntsman, Janine Senz, Mark Bettington, Jonathan Beesley, Nicci Wayte, Tamsin R M Lannagan, Xiaoqing Chen, Wendy S. Rubinstein, Lyn Schofield, David E. Goldgar, Christopher Koh, Noralane M. Lindor, Lachlan J. M. Coin, Marie Jeanjean, Joshua J. Waterfall, Pavel N. Pichurin, Amanda B. Spurdle, Sylviane Olschwang, John V. Pearson, Udo Rudloff, Fátima Carneiro, Nicola Waddell, Sunil R. Lakhani, Rita A. Busuttil, Susan L. Woods, Anna Newlin, Haran Sivakumaran, Natasha Di Costanzo, Aurélie Fabre, Xiaogang Wen, Geoffrey J. Faulkner, Jason Sang Hun Lee, Robert L. Walker, Cathy Kiraly-Borri, Peter J. Hulick, Marbin Pineda, Sean Davis, Alex Boussioutas, William D. Foulkes, Jacqueline Armstrong

المساهمون: Queensland Institute of Medical Research, Jet Propulsion Laboratory (JPL), NASA-California Institute of Technology (CALTECH), University of Queensland [Brisbane], Génétique Médicale et Génomique Fonctionnelle (GMGF), Institut National de la Santé et de la Recherche Médicale (INSERM)-Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)- Hôpital de la Timone [CHU - APHM] (TIMONE)-Centre National de la Recherche Scientifique (CNRS), Département d'Oncologie [Hôpital Clairval - Marseille], Hôpital Privé Clairval [Marseille], Hôpital Européen [Fondation Ambroise Paré - Marseille], Department of Genomics of Common Disease, Imperial College London, Department of Dermatology, University of Utah School of Medicine [Salt Lake City], Metabolic Unit, Dept Clinical Chemistry, Institute of Molecular Pathology and Immunology of the University of Porto (IPATIMUP) and Medical Fa, Zhejiang University of Technology, Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)- Hôpital de la Timone [CHU - APHM] (TIMONE)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)

المصدر: American Journal of Human Genetics
American Journal of Human Genetics, Elsevier (Cell Press), 2016, 98 (5), pp.830-842. ⟨10.1016/j.ajhg.2016.03.001⟩
American Journal of Human Genetics, 2016, 98 (5), pp.830-842. ⟨10.1016/j.ajhg.2016.03.001⟩

مصطلحات موضوعية: Male, 0301 basic medicine, DNA Copy Number Variations, Genetic Linkage, Adenomatous polyposis coli, Adenomatous Polyposis Coli Protein, Loss of Heterozygosity, Adenocarcinoma, Allelic Imbalance, Article, Familial adenomatous polyposis, Adenomatous Polyps, 03 medical and health sciences, Exon, 0302 clinical medicine, Stomach Neoplasms, [SDV.BBM.GTP]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Genomics [q-bio.GN], Genetics, medicine, Gastric mucosa, Humans, Point Mutation, Genetics(clinical), Exome, Promoter Regions, Genetic, Genetics (clinical), biology, Point mutation, High-Throughput Nucleotide Sequencing, Cancer, Exons, medicine.disease, digestive system diseases, Pedigree, 3. Good health, 030104 developmental biology, medicine.anatomical_structure, Adenomatous Polyposis Coli, Gastric Mucosa, 030220 oncology & carcinogenesis, biology.protein, Cancer research, Female

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0fdd9f9388260e86a9d46ca0872f4fba
https://doi.org/10.1016/j.ajhg.2016.03.001

المؤلفون: Michael P Mullane, Antony Ruggeri, Brenda Ramczyk, Jennifer J Godden, Pamela Vanderwall, James L. Weese, Deborah Wham, Michael A. Thompson, Shamsuddin Virani, Scott M Weissman, Amanda Wilson

المصدر: Journal of Patient-Centered Research and Reviews, Vol 6, Iss 1, Pp 36-45 (2019)

مصطلحات موضوعية: 0301 basic medicine, Oncology, medicine.medical_specialty, precision medicine, lcsh:Medicine, Disease, Review, 03 medical and health sciences, 0302 clinical medicine, Internal medicine, Health care, medicine, genomics, integrated health system, business.industry, Medical record, Potential effect, lcsh:R, General Medicine, Precision medicine, Cancer treatment, 030104 developmental biology, 030220 oncology & carcinogenesis, Informatics, oncology, community, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5119f7b6848ac251f4d7a425acbf84eb
https://europepmc.org/articles/PMC6676755/

المؤلفون: Rachel Nusbaum, Megan L. Marshall, Lauren Yackowski, Lisa R. Susswein, Scott M. Weissman, Kristen J. Vogel Postula, Patricia D. Murphy, Gabi Richard, Jeffrey Bissonnette, Erica M. Vaccari, Wendy K. Chung, Daniel E. Pineda-Alvarez, Jessica K. Booker, Sherri J. Bale, M. Laura Cremona, Rachel T. Klein, Guido D. Pollevick, Zhixiong Xu, Kathleen S. Hruska, Federica Gibellini

المصدر: Genetics in Medicine

مصطلحات موضوعية: Adult, Male, 0301 basic medicine, Oncology, medicine.medical_specialty, Colorectal cancer, MLH1, hereditary breast and ovarian cancer, hereditary cancer panels, 03 medical and health sciences, 0302 clinical medicine, BRCA1/2, Neoplasms, Internal medicine, Prevalence, medicine, Humans, Genetic Predisposition to Disease, Genetic Testing, Original Research Article, Stomach cancer, Germ-Line Mutation, Genetics (clinical), Aged, Genetic testing, next generation sequencing, medicine.diagnostic_test, Genetic heterogeneity, business.industry, High-Throughput Nucleotide Sequencing, Cancer, Sequence Analysis, DNA, Middle Aged, medicine.disease, Penetrance, Lynch syndrome, 030104 developmental biology, 030220 oncology & carcinogenesis, Female, Erratum, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::54513942055a87a6c0069e6fe9baf282
http://europepmc.org/articles/PMC4985612

المؤلفون: Paola Spessotto, Francesco Bucciotti, Peter J. Hulick, Roberto Doliana, Cameron Mroske, Qingshen Gao, Kelly D. Farwell, Brigette Tippin Davis, Alfonso Colombatti, Scott M. Weissman, Alessandra Capuano

المصدر: Human Mutation

مصطلحات موضوعية: 0301 basic medicine, Proband, Male, Pathology, Connective Tissue Disorder, Biopsy, DNA Mutational Analysis, Gene Expression, Mice, EMILIN‐1, Cluster Analysis, Exome, Connective Tissue Diseases, Genetics (clinical), Exome sequencing, Research Articles, connective tissue, Genes, Dominant, Skin, Genetics, Sanger sequencing, Membrane Glycoproteins, High-Throughput Nucleotide Sequencing, Connective tissue disease, Magnetic Resonance Imaging, diagnostic exome sequencing, Pedigree, medicine.anatomical_structure, Phenotype, symbols, Female, Research Article, medicine.medical_specialty, Molecular Sequence Data, Connective tissue, Biology, Cell Line, 03 medical and health sciences, symbols.namesake, autosomal dominant, medicine, Animals, Humans, Amino Acid Sequence, EMILIN1, Computational Biology, medicine.disease, 030104 developmental biology, Mutation, biology.protein, neuropathy, Elastin, Sequence Alignment

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::04d1e9ba6e53f0238f01d713a1dba952
http://europepmc.org/articles/PMC4738430

المؤلفون: Scott M. Weissman, Erica Ramos

المصدر: American journal of medical genetics. Part C, Seminars in medical genetics. 178(1)

مصطلحات موضوعية: 0301 basic medicine, medicine.diagnostic_test, business.industry, Interpretation (philosophy), Genetic counseling, Genetic Carrier Screening, Internet privacy, Genomics, Commit, 030105 genetics & heredity, Pedigree, 03 medical and health sciences, Counselors, Order (exchange), Direct-To-Consumer Screening and Testing, Genetics, Clinical genetic, medicine, Humans, Genetic Testing, Psychology, Raw data, business, Genetics (clinical), Genetic testing

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d7169ab99b1645d250816fadf4227262
https://pubmed.ncbi.nlm.nih.gov/29512889

المؤلفون: Michael A, Thompson, Jennifer J, Godden, Scott M, Weissman, Deborah, Wham, Amanda, Wilson, Antony, Ruggeri, Michael P, Mullane, James L, Weese

المصدر: The American journal of managed care. 23(10 Spec)

مصطلحات موضوعية: Neoplasms, Humans, Precision Medicine, Program Development, Medical Oncology, Community Health Planning

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::19e5b0e355adbcc3e56edb9b54366453
https://pubmed.ncbi.nlm.nih.gov/29087641

المؤلفون: Scott M Weissman, Nicole Gill, Deborah Wham, Kate Zellmer

المصدر: Journal of genetic counseling. 27(2)

مصطلحات موضوعية: 0301 basic medicine, Adult, Medical education, medicine.medical_specialty, Telemedicine, business.industry, Service delivery framework, Genetic counseling, Public health, Genetic Counseling, 030105 genetics & heredity, 03 medical and health sciences, Workflow, Wisconsin, Work (electrical), Pregnancy, Health care, medicine, Medical genetics, Humans, Female, Business, Community Health Services, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6651867b42f5bbee38ccfc4dbda8b2b9
https://pubmed.ncbi.nlm.nih.gov/29204808

المؤلفون: Tomasz Czechura, Katharine Yao, Michael A. Howard, Suzanne B. Coopey, Barbara L. Smith, Mark Sisco, Peter J. Hulick, Erik Liederbach, Rong Tang, David J. Winchester, Scott M. Weissman, Lan Lei

المصدر: Annals of Surgical Oncology. 22:370-376

مصطلحات موضوعية: Adult, Nipple-Sparing Mastectomy, Heterozygote, medicine.medical_specialty, medicine.medical_treatment, Genes, BRCA2, Genes, BRCA1, Breast Neoplasms, Brca1 2 mutation, Surgical oncology, medicine, Humans, skin and connective tissue diseases, Mastectomy, Aged, Retrospective Studies, business.industry, Cancer, Retrospective cohort study, Prophylactic Mastectomy, Middle Aged, medicine.disease, Interim analysis, Surgery, Oncology, Nipples, Mutation, Female, Neoplasm Recurrence, Local, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::459cc64b91bf747ac01d94f314b9f2bc
https://doi.org/10.1245/s10434-014-3883-3

المؤلفون: Mario Javier Pineda, Kristen J. Vogel Postula, Scott M. Weissman, Shelly M. Weiss, Kathryn M. Buchtel, Carmen Williams

المصدر: Journal of genetic counseling. 27(1)

مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, Referral, Attitude of Health Personnel, Genetic counseling, Genetic Counseling, Poly(ADP-ribose) Polymerase Inhibitors, Piperazines, Olaparib, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, medicine, Humans, Genetic Testing, Genetics (clinical), Genetic testing, Gynecology, Ovarian Neoplasms, medicine.diagnostic_test, business.industry, BRCA1 Protein, Public health, Fda approval, Professional-Patient Relations, 030104 developmental biology, chemistry, 030220 oncology & carcinogenesis, Family medicine, PARP inhibitor, Phthalazines, Female, business, Companion diagnostic

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a7cd1fe9a4bcf9795797eaeece91027b
https://pubmed.ncbi.nlm.nih.gov/28780754

المؤلفون: Kathy A. Mangold, Karen L. Kaul, Wendy S. Rubinstein, Scott M. Weissman, Vivien Wang

المصدر: The Journal of Molecular Diagnostics. 12:20-26

مصطلحات موضوعية: Technical Advances, Genes, BRCA2, Genes, BRCA1, Biology, Polymerase Chain Reaction, DNA sequencing, Cell Line, Pathology and Forensic Medicine, law.invention, law, Formaldehyde, Humans, Allele, Polymerase chain reaction, DNA Primers, BRCA2 Protein, Genetics, Paraffin Embedding, BRCA1 Protein, DNA, Microfluidic Analytical Techniques, Amplicon, Molecular biology, Amplicon Size, genomic DNA, Mutation, Molecular Medicine, Primer (molecular biology), Heteroduplex

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::25e3662c055344aaccfc12cf1be12821
https://doi.org/10.2353/jmoldx.2010.090023

المؤلفون: Wendy S, Rubinstein, Scott M, Weissman

المصدر: Nature Clinical Practice Gastroenterology & Hepatology. 5:569-582

مصطلحات موضوعية: Hepatology, Practice Guidelines as Topic, Gastroenterology, Humans, Genetic Counseling, General Medicine, Gastrointestinal Neoplasms

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4aff864146569dc6d5b6a1f7c10b1269
https://doi.org/10.1038/ncpgasthep1235