Publications by authors named "Sioban Keel"

31Publications

Phase 3 Trial of RNAi Therapeutic Givosiran for Acute Intermittent Porphyria.

N Engl J Med 2020 06;382(24):2289-2301

From the Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York (M.B.); Porphyria Center Sweden, Center for Inherited Metabolic Diseases, Karolinska Institutet, Karolinska University Hospital, Stockholm (E.S., P.H., D.V.); the Department of Surgical and Medical Sciences for Children and Adults, Internal Medicine Unit, University of Modena and Reggio Emilia, Modena, Italy (P.V.); Hospital Clínic de Barcelona, Universitat de Barcelona, Barcelona (P.A.P.); King's College London, King's College Hospital, London (D.C.R., P.E.S.); Klinikum Chemnitz, Chemnitz, Germany (U.S.); the Liver Center and Porphyria Center, University of California, San Francisco, San Francisco (D.M.B., B.W.); the Section on Gastroenterology and Hepatology, Wake Forest University-North Carolina Baptist Medical Center, Winston-Salem (H.L.B.); the Department of Hemostatic Disorders and Internal Medicine, Institute of Hematology and Transfusion Medicine, Warsaw, Poland (J.W.); the University of Texas Medical Branch, Galveston (K.E.A.); the University of Utah, Salt Lake City (C. Parker, J.P.); the University of Michigan, Ann Arbor (S.M.S.); the Department of Medicine, Division of Hematology, University of Washington, Seattle (S.B.K.); the Center for Rare Disease and Hemophilia, Taichung Veterans General Hospital, Taichung, Taiwan (J.-D.W.); St. Ivan Rilski University Hospital, Sofia, Bulgaria (A.I.); Porphyria Center Rotterdam, Center for Lysosomal and Metabolic Disease, Department of Internal Medicine, Erasmus Medical Center, University Medical Center Rotterdam, Rotterdam, the Netherlands (J.G.L.); the Department of Medicine, University Hospital of Helsinki, Helsinki, Finland (R.K.); Stadtspital Triemli, Zentrallabor, Zurich, Switzerland (E.M.); Tottori University School of Medicine, Tottori, Japan (Y.H.); Alnylam Pharmaceuticals, Cambridge, MA (C. Penz, J.C., S.L., J.J.K., M.T.S., P.G., A.V., J.B.K., A.R.S.); and the University of Paris and the Laboratory of Excellence GR-Ex, Paris, and Centre de Référence Maladies Rares Porphyries, Assistance Publique-Hôpitaux de Paris, Colombes - all in France (L.G.).

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http://dx.doi.org/10.1056/NEJMoa1913147DOI Listing
June 2020

Small-Molecule PAPD5 Inhibitors Restore Telomerase Activity in Patient Stem Cells.

Cell Stem Cell 2020 06 21;26(6):896-909.e8. Epub 2020 Apr 21.

Division of Hematology/Oncology, Boston Children's Hospital, Boston, MA, USA; Department of Pediatric Oncology, Dana-Farber Cancer Institute, Boston, MA, USA; Harvard Stem Cell Institute, Boston, MA, USA; Department of Pediatrics, Harvard Medical School, Boston, MA, USA; Stem Cell Program, Boston Children's Hospital, Boston, MA, USA; Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA, USA; Harvard Initiative in RNA Medicine, Boston, MA, USA. Electronic address:

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http://dx.doi.org/10.1016/j.stem.2020.03.016DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7275922PMC
June 2020

Bone Marrow Morphology Associated With Germline Mutations in Patients With Familial Platelet Disorder With Associated Myeloid Malignancy.

Pediatr Dev Pathol 2019 Jul-Aug;22(4):315-328. Epub 2019 Jan 2.

9 Division of Hematology Oncology, Boston Children's Hospital, Boston, Massachusetts.

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http://dx.doi.org/10.1177/1093526618822108DOI Listing
January 2020

Transfusion practices and complications in thalassemia.

Transfusion 2018 12 27;58(12):2826-2835. Epub 2018 Sep 27.

Hematology/Oncology, University of California San Francisco Benioff Children's Hospital, Oakland, California.

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http://dx.doi.org/10.1111/trf.14875DOI Listing
December 2018

Acquired RhD mosaicism identifies fibrotic transformation of thrombopoietin receptor-mutated essential thrombocythemia.

Transfusion 2017 09 26;57(9):2136-2139. Epub 2017 Jun 26.

Hematology Branch, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, Maryland.

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http://dx.doi.org/10.1111/trf.14201DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5583005PMC
September 2017

Identifying Inherited and Acquired Genetic Factors Involved in Poor Stem Cell Mobilization and Donor-Derived Malignancy.

Biol Blood Marrow Transplant 2016 11 4;22(11):2100-2103. Epub 2016 Aug 4.

Section of Hematology/Oncology, Department of Medicine, and The University of Chicago Comprehensive Cancer Center, The University of Chicago, Chicago, Illinois; Center for Clinical Cancer Genetics, The University of Chicago, Chicago, Illinois. Electronic address:

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http://dx.doi.org/10.1016/j.bbmt.2016.08.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5592729PMC
November 2016

Ataxia-Pancytopenia Syndrome Is Caused by Missense Mutations in SAMD9L.

Am J Hum Genet 2016 06;98(6):1146-1158

Division of Medical Genetics, University of Washington School of Medicine, Seattle, WA 98195, USA; Geriatric Research, Education, and Clinical Center, Veterans Administration Puget Sound Veterans Health Care Center, Seattle, WA 98108, USA; Division of Psychiatry and Behavioral Sciences, University of Washington School of Medicine, Seattle, WA 98195, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2016.04.009DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4908176PMC
June 2016

Diamond Blackfan Anemia: A Nonclassical Patient With Diagnosis Assisted by Genomic Analysis.

J Pediatr Hematol Oncol 2016 10;38(7):e260-2

*Hematology Unit, Schneider Medical Center of Israel †The Felsenstein Medical Research Center, Sackler Faculty of Medicine, Tel Aviv University, Petach Tikva, Israel Departments of ‡Medicine, Division of Hematology §Medicine, Division of Medical Genetics #Medicine **Genome Sciences §§Pediatrics, University of Washington ††Clinical Research Division, Fred Hutchinson Cancer Research Center ‡‡Department of Pediatric Hematology/Oncology, Seattle Children's Hospital, Seattle, WA ∥Pediatric Onco-Hematology, Regina Margherita Children's Hospital ¶Pediatric Hematology, University of Turin, Turin, Italy.

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http://dx.doi.org/10.1097/MPH.0000000000000587DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5033710PMC
October 2016

Novel germ line DDX41 mutations define families with a lower age of MDS/AML onset and lymphoid malignancies.

Blood 2016 Feb 28;127(8):1017-23. Epub 2015 Dec 28.

Department of Genetics and Molecular Pathology, Centre for Cancer Biology, SA Pathology, Adelaide, SA, Australia; School of Pharmacy and Medical Sciences, Division of Health Sciences, University of South Australia, Adelaide, SA, Australia; School of Medicine, University of Adelaide, Adelaide, SA, Australia; School of Molecular and Biological Sciences, University of Adelaide, Adelaide, SA, Australia; Australian Cancer Research Foundation Cancer Genomics Facility, Centre for Cancer Biology.

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http://dx.doi.org/10.1182/blood-2015-10-676098DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4968341PMC
February 2016

Evidence that the expression of transferrin receptor 1 on erythroid marrow cells mediates hepcidin suppression in the liver.

Exp Hematol 2015 Jun 14;43(6):469-78.e6. Epub 2015 Mar 14.

Division of Hematology, Department of Medicine, University of Washington, Seattle, Washington, USA. Electronic address:

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http://dx.doi.org/10.1016/j.exphem.2015.03.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4771411PMC
June 2015

Germline ETV6 mutations in familial thrombocytopenia and hematologic malignancy.

Nat Genet 2015 Feb 12;47(2):180-5. Epub 2015 Jan 12.

1] Clinical Research Division, Fred Hutchinson Cancer Research Center, Seattle, Washington, USA. [2] Pediatric Hematology/Oncology, Seattle Children's Hospital, Seattle, Washington, USA. [3] Department of Pediatrics, University of Washington, Seattle, Washington, USA.

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http://dx.doi.org/10.1038/ng.3177DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4540357PMC
February 2015

Genomic analysis of bone marrow failure and myelodysplastic syndromes reveals phenotypic and diagnostic complexity.

Haematologica 2015 Jan 19;100(1):42-8. Epub 2014 Sep 19.

Clinical Research Division, Fred Hutchinson Cancer Research Center, Seattle, WA Department of Pediatric Hematology/Oncology, Seattle Children's Hospital, WA Department of Pediatrics, University of Washington, Seattle, WA, USA

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http://dx.doi.org/10.3324/haematol.2014.113456DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4281311PMC
January 2015

The microcytic red cell and the anemia of inflammation.

N Engl J Med 2009 Nov;361(19):1904-6

Division of Hematology, University of Washington, Seattle, USA.

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http://www.nejm.org/doi/abs/10.1056/NEJMcibr0906391
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http://dx.doi.org/10.1056/NEJMcibr0906391DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3741048PMC
November 2009

Alpha-delta platelet storage pool deficiency in three generations.

Platelets 2007 Feb;18(1):1-10

Department of Laboratory Medicine and Pathology, University of Minnesota, Minneapolis, MN 55455, USA.

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http://www.tandfonline.com/doi/full/10.1080/0953710060080017
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http://dx.doi.org/10.1080/09537100600800172DOI Listing
February 2007