المؤلفون: Brownstein, CA, Beggs, AH, Homer, N, Merriman, B, Yu, TW, Flannery, KC, DeChene, ET, Towne, MC, Savage, SK, Price, EN, Holm, IA, Luquette, LJ, Lyon, E, Majzoub, J, Neupert, P, McCallie, D, Szolovits, P, Willard, HF, Mendelsohn, NJ, Temme, R, Finkel, RS, Yum, SW, Medne, L, Sunyaev, SR, Adzhubey, I, Cassa, CA, de Bakker, PIW, Duzkale, H, Dworzynski, P, Fairbrother, W, Francioli, L, Funke, BH, Giovanni, MA, Handsaker, RE, Lage, K, Lebo, MS, Lek, M, Leshchiner, I, MacArthur, DG, McLaughlin, HM, Murray, MF, Pers, TH, Polak, PP, Raychaudhuri, S, Rehm, HL, Soemedi, R, Stitziel, NO, Vestecka, S, Supper, J, Gugenmus, C, Klocke, B, Hahn, A, Schubach, M, Menzel, M, Biskup, S, Freisinger, P, Deng, M, Braun, M, Perner, S, Smith, RJH, Andorf, JL, Huang, J, Ryckman, K, Sheffield, VC, Stone, EM, Bair, T, Black-Ziegelbein, EA, Braun, TA, Darbro, B, DeLuca, AP, Kolbe, DL, Scheetz, TE, Shearer, AE, Sompallae, R, Wang, K, Bassuk, AG, Edens, E, Mathews, K, Moore, SA, Shchelochkov, OA, Trapane, P, Bossler, A, Campbell, CA, Heusel, JW, Kwitek, A, Maga, T, Panzer, K, Wassink, T, Van Daele, D, Azaiez, H, Booth, K, Meyer, N, Segal, MM, Williams, MS, Tromp, G, White, P, Corsmeier, D, Fitzgerald-Butt, S, Herman, G, Lamb-Thrush, D, McBride, KL, Newsom, D, Pierson, CR, Rakowsky, AT, Maver, A, Lovrecic, L, Palandacic, A, Peterlin, B, Torkamani, A, Wedell, A, Huss, M, Alexeyenko, A, Lindvall, JM, Magnusson, M, Nilsson, D, Stranneheim, H, Taylan, F, Gilissen, C, Hoischen, A, van Bon, B, Yntema, H, Nelen, M, Zhang, WD, Sager, J, Zhang, L, Blair, K, Kural, D, Cariaso, M, Lennon, GG, Javed, A, Agrawal, S, Ng, PC, Sandhu, KS, Krishna, S, Veeramachaneni, V, Isakov, O, Halperin, E, Friedman, E, Shomron, N, Glusman, G, Roach, JC, Caballero, J, Cox, HC, Mauldin, D, Ament, SA, Rowen, L, Richards, DR, San Lucas, FA, Gonzalez-Garay, ML, Caskey, CT, Bai, Y, Huang, Y, Fang, F, Zhang, Y, Wang, ZY, Barrera, J, Garcia-Lobo, JM, Gonzalez-Lamuno, D, Llorca, J, Rodriguez, MC, Varela, I, Reese, MG, De la Vega, FM, Kiruluta, E, Cargill, M, Hart, RK, Sorenson, JM, Lyon, GJ, Stevenson, DA, Bray, BE, Moore, BM, Eilbeck, K, Yandell, M, Zhao, HY, Hou, L, Chen, XW, Yan, XT, Chen, MJ, Li, C, Yang, C, Gunel, M, Li, PN, Kong, Y, Alexander, AC, Albertyn, ZI, Boycott, KM, Bulman, DE, Gordon, PMK, Innes, AM, Knoppers, BM, Majewski, J, Marshall, CR, Parboosingh, JS, Sawyer, SL, Samuels, ME, Schwartzentruber, J, Kohane, IS, Margulies, DM

المصدر: Genome biology. 15(3):R53

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:129420736

المؤلفون: Chopra, SS, Leshchiner, I, Duzkale, H, McLaughlin, H, Giovanni, M, Zhang, CS, Cassa, CA

المساهمون: Chopra, S.S., Leshchiner, I., Duzkale, H., McLaughlin, H., Giovanni, M., Zhang, C., Cassa, C.A., Yeditepe Üniversitesi, Chopra, SS, Leshchiner, I, Duzkale, H, McLaughlin, H, Giovanni, M, Zhang, CS, Cassa, CA

مصطلحات موضوعية: Malignant lymphoproliferative disorder, CHST11, MIR3922, Skeletal malformation, Inherited lymphoproliferative disorder

URL الوصول: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::747f31523dd923944d98cf63678f7456
https://hdl.handle.net/20.500.11831/1568

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المؤلفون: Ryu J; Molecular Pathology Unit, Krantz Family Center for Cancer Research, Massachusetts General Hospital, Boston, MA, USA.; Department of Biomedical Informatics, Harvard Medical School, Boston, MA, USA.; Gene Regulation Observatory, The Broad Institute of Harvard and MIT, Cambridge, MA, USA., Barkal S; Division of Genetics, Department of Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, MA, USA., Yu T; Division of Genetics, Department of Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, MA, USA., Jankowiak M; Gene Regulation Observatory, The Broad Institute of Harvard and MIT, Cambridge, MA, USA., Zhou Y; School of Chemistry and Molecular Biosciences, University of Queensland, Brisbane, Queensland, Australia.; Computational Biology and Clinical Informatics, Baker Heart and Diabetes Institute, Melbourne, Victoria, Australia., Francoeur M; Division of Genetics, Department of Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, MA, USA., Phan QV; Division of Genetics, Department of Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, MA, USA., Li Z; Molecular Pathology Unit, Krantz Family Center for Cancer Research, Massachusetts General Hospital, Boston, MA, USA.; Gene Regulation Observatory, The Broad Institute of Harvard and MIT, Cambridge, MA, USA., Tognon M; Molecular Pathology Unit, Krantz Family Center for Cancer Research, Massachusetts General Hospital, Boston, MA, USA.; Gene Regulation Observatory, The Broad Institute of Harvard and MIT, Cambridge, MA, USA.; Computer Science Department, University of Verona, Verona, Italy., Brown L; Division of Genetics, Department of Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, MA, USA., Love MI; Department of Genetics, Department of Biostatistics, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA., Bhat V; Division of Genetics, Department of Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, MA, USA., Lettre G; Montreal Heart Institute, Montréal, Quebec, Canada.; Faculté de Médecine, Université de Montréal, Montréal, Quebec, Canada., Ascher DB; School of Chemistry and Molecular Biosciences, University of Queensland, Brisbane, Queensland, Australia.; Computational Biology and Clinical Informatics, Baker Heart and Diabetes Institute, Melbourne, Victoria, Australia., Cassa CA; Division of Genetics, Department of Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, MA, USA. ccassa@bwh.harvard.edu., Sherwood RI; Division of Genetics, Department of Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, MA, USA. rsherwood@bwh.harvard.edu., Pinello L; Molecular Pathology Unit, Krantz Family Center for Cancer Research, Massachusetts General Hospital, Boston, MA, USA. lpinello@mgh.harvard.edu.; Gene Regulation Observatory, The Broad Institute of Harvard and MIT, Cambridge, MA, USA. lpinello@mgh.harvard.edu.; Department of Pathology, Harvard Medical School, Boston, MA, USA. lpinello@mgh.harvard.edu.

المصدر: Nature genetics [Nat Genet] 2024 May; Vol. 56 (5), pp. 925-937. Date of Electronic Publication: 2024 Apr 24.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Nature Pub. Co Country of Publication: United States NLM ID: 9216904 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1546-1718 (Electronic) Linking ISSN: 10614036 NLM ISO Abbreviation: Nat Genet Subsets: MEDLINE

مواضيع طبية MeSH: Gene Editing*/methods , Phenotype* , Genotype* , CRISPR-Cas Systems* , RNA, Guide, CRISPR-Cas Systems*/genetics, Humans ; Bayes Theorem ; Receptors, LDL/genetics ; HEK293 Cells

المؤلفون: Ryu J; Molecular Pathology Unit, Center for Cancer Research, Massachusetts General Hospital, Boston, MA, USA.; Department of Biomedical Informatics, Harvard Medical School, Boston, MA, USA.; Broad Institute of Harvard and MIT, Cambridge, MA, USA., Barkal S; Division of Genetics, Department of Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, MA, USA., Yu T; Division of Genetics, Department of Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, MA, USA., Jankowiak M; Broad Institute of Harvard and MIT, Cambridge, MA, USA., Zhou Y; School of Chemistry and Molecular Biosciences, The University of Queensland, Brisbane, Australia.; Computational Biology and Clinical Informatics, Baker Heart and Diabetes Institute, Melbourne, Victoria, Australia., Francoeur M; Division of Genetics, Department of Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, MA, USA., Phan QV; Division of Genetics, Department of Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, MA, USA., Li Z; Molecular Pathology Unit, Center for Cancer Research, Massachusetts General Hospital, Boston, MA, USA.; Broad Institute of Harvard and MIT, Cambridge, MA, USA., Tognon M; Molecular Pathology Unit, Center for Cancer Research, Massachusetts General Hospital, Boston, MA, USA.; Broad Institute of Harvard and MIT, Cambridge, MA, USA.; Computer Science Department, University of Verona, Verona, Italy., Brown L; Division of Genetics, Department of Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, MA, USA., Love MI; Department of Genetics, Department of Biostatistics, University of North Carolina at Chapel Hill, Chapel Hill, NC., Lettre G; Montreal Heart Institute, Montréal, QC H1T 1C8, Canada.; Faculté de Médecine, Université de Montréal, Montréal, QC H3T 1J4, Canada., Ascher DB; School of Chemistry and Molecular Biosciences, The University of Queensland, Brisbane, Australia.; Computational Biology and Clinical Informatics, Baker Heart and Diabetes Institute, Melbourne, Victoria, Australia., Cassa CA; Division of Genetics, Department of Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, MA, USA., Sherwood RI; Division of Genetics, Department of Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, MA, USA., Pinello L; Molecular Pathology Unit, Center for Cancer Research, Massachusetts General Hospital, Boston, MA, USA.; Broad Institute of Harvard and MIT, Cambridge, MA, USA.; Department of Pathology, Harvard Medical School, Boston, MA, USA.

المصدر: MedRxiv : the preprint server for health sciences [medRxiv] 2023 Sep 10. Date of Electronic Publication: 2023 Sep 10.

نوع المنشور: Preprint

بيانات الدورية: Country of Publication: United States NLM ID: 101767986 Publication Model: Electronic Cited Medium: Internet NLM ISO Abbreviation: medRxiv Subsets: PubMed not MEDLINE

المؤلفون: Fife JD; Division of Genetics, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, USA., Cassa CA; Division of Genetics, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, USA; Harvard Medical School, Boston, MA, USA. Electronic address: cassa@alum.mit.edu.

المصدر: American journal of human genetics [Am J Hum Genet] 2023 Jun 01; Vol. 110 (6), pp. 940-949. Date of Electronic Publication: 2023 May 25.

نوع المنشور: Journal Article; Research Support, N.I.H., Extramural

بيانات الدورية: Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: MEDLINE

مواضيع طبية MeSH: Genetic Predisposition to Disease* , Breast Neoplasms*/genetics , Breast Neoplasms*/pathology, Humans ; Female ; BRCA2 Protein/genetics ; Mutation, Missense ; Sequence Analysis, DNA ; Cohort Studies

المؤلفون: Hamilton MC; Division of Genetics, Department of Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, MA 02115, USA., Fife JD; Division of Genetics, Department of Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, MA 02115, USA., Akinci E; Division of Genetics, Department of Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, MA 02115, USA., Yu T; Division of Genetics, Department of Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, MA 02115, USA., Khowpinitchai B; Division of Genetics, Department of Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, MA 02115, USA., Cha M; Division of Genetics, Department of Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, MA 02115, USA., Barkal S; Division of Genetics, Department of Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, MA 02115, USA., Thi TT; Precision Medicine Research Programme, Cardiovascular Disease Research Programme, and Department of Biochemistry, Yong Loo Lin School of Medicine, National University of Singapore, Singapore, Singapore., Yeo GHT; Department of Electrical Engineering and Computer Science, Massachusetts Institute of Technology, Cambridge, MA 02139, USA.; Department of Biological Engineering, Computer Science and Artificial Intelligence Laboratory, Massachusetts Institute of Technology, Cambridge, MA 02139, USA., Ramos Barroso JP; Division of Genetics, Department of Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, MA 02115, USA., Francoeur MJ; Division of Genetics, Department of Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, MA 02115, USA., Velimirovic M; Division of Genetics, Department of Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, MA 02115, USA., Gifford DK; Department of Electrical Engineering and Computer Science, Massachusetts Institute of Technology, Cambridge, MA 02139, USA.; Department of Biological Engineering, Computer Science and Artificial Intelligence Laboratory, Massachusetts Institute of Technology, Cambridge, MA 02139, USA., Lettre G; Montreal Heart Institute, Montréal, QC H1T 1C8, Canada.; Faculté de Médecine, Université de Montréal, Montréal, QC H3T 1J4, Canada., Yu H; Precision Medicine Research Programme, Cardiovascular Disease Research Programme, and Department of Biochemistry, Yong Loo Lin School of Medicine, National University of Singapore, Singapore, Singapore., Cassa CA; Division of Genetics, Department of Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, MA 02115, USA., Sherwood RI; Division of Genetics, Department of Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, MA 02115, USA.

المصدر: Cell genomics [Cell Genom] 2023 Apr 21; Vol. 3 (5), pp. 100304. Date of Electronic Publication: 2023 Apr 21 (Print Publication: 2023).

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Elsevier, Inc Country of Publication: United States NLM ID: 9918284260106676 Publication Model: eCollection Cited Medium: Internet ISSN: 2666-979X (Electronic) Linking ISSN: 2666979X NLM ISO Abbreviation: Cell Genom Subsets: PubMed not MEDLINE

المؤلفون: Luppino F; Max Planck Institute of Molecular Cell Biology and Genetics, 01307, Dresden, Germany.; Center for Systems Biology Dresden, 01307, Dresden, Germany., Adzhubei IA; Brigham and Women's Hospital Division of Genetics, Harvard Medical School, Boston, MA, 02115, USA.; Department of Biomedical Informatics, Harvard Medical School, Boston, MA, 02115, USA., Cassa CA; Brigham and Women's Hospital Division of Genetics, Harvard Medical School, Boston, MA, 02115, USA. ccassa@bwh.harvard.edu., Toth-Petroczy A; Max Planck Institute of Molecular Cell Biology and Genetics, 01307, Dresden, Germany. toth-petroczy@mpi-cbg.de.; Center for Systems Biology Dresden, 01307, Dresden, Germany. toth-petroczy@mpi-cbg.de.; Cluster of Excellence Physics of Life, TU Dresden, 01062, Dresden, Germany. toth-petroczy@mpi-cbg.de.

المصدر: Nature communications [Nat Commun] 2023 Apr 19; Vol. 14 (1), pp. 2230. Date of Electronic Publication: 2023 Apr 19.

نوع المنشور: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Nature Pub. Group Country of Publication: England NLM ID: 101528555 Publication Model: Electronic Cited Medium: Internet ISSN: 2041-1723 (Electronic) Linking ISSN: 20411723 NLM ISO Abbreviation: Nat Commun Subsets: MEDLINE

مواضيع طبية MeSH: Genomics*/methods , Mutation, Missense*, Humans ; United States ; Genetic Variation ; Genetic Testing/methods

المؤلفون: Yu T; Division of Genetics, Brigham and Women's Hospital, Harvard Medical School, Boston, Massachusetts., Fife JD; Division of Genetics, Brigham and Women's Hospital, Harvard Medical School, Boston, Massachusetts., Adzhubey I; Department of Biomedical Informatics, Blavatnik Institute, Harvard Medical School, Boston, Massachusetts., Sherwood R; Division of Genetics, Brigham and Women's Hospital, Harvard Medical School, Boston, Massachusetts., Cassa CA; Division of Genetics, Brigham and Women's Hospital, Harvard Medical School, Boston, Massachusetts.

المصدر: MedRxiv : the preprint server for health sciences [medRxiv] 2023 Jan 07. Date of Electronic Publication: 2023 Jan 07.

نوع المنشور: Preprint

بيانات الدورية: Country of Publication: United States NLM ID: 101767986 Publication Model: Electronic Cited Medium: Internet NLM ISO Abbreviation: medRxiv Subsets: PubMed not MEDLINE