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Journal Article
Blood, ISSN 0006-4971, 12/2015, Volume 126, Issue 23, pp. 272 - 272
Abstract Congenital dyserythropoietic anemia (CDA) type II is the most frequent type of congenital dyserythropoietic anemia; it is transmitted in an autosomal... 
Journal Article
Blood, ISSN 0006-4971, 12/2015, Volume 126, Issue 23, pp. 1170 - 1170
Abstract Mammalian erythropoiesis during embryogenesis occurs in several distinct stages or "waves" that vary according to timing, site of production, gene... 
Journal Article
by Thompson, Deborah J and Genovese, Giulio and Halvardson, Jonatan and Ulirsch, Jacob C and Wright, Daniel J and Terao, Chikashi and Davidsson, Olafur B and Day, Felix R and Sulem, Patrick and Jiang, Yunxuan and Danielsson, Marcus and Davies, Hanna and Dennis, Joe and Dunlop, Malcolm G and Easton, Douglas F and Fisher, Victoria A and Zink, Florian and Houlston, Richard S and Ingelsson, Martin and Kar, Siddhartha and Kerrison, Nicola D and Kinnersley, Ben and Kristjansson, Ragnar P and Law, Philip J and Li, Rong and Loveday, Chey and Mattisson, Jonas and McCarroll, Steven A and Murakami, Yoshinori and Murray, Anna and Olszewski, Pawel and Rychlicka-Buniowska, Edyta and Scott, Robert A and Thorsteinsdottir, Unnur and Tomlinson, Ian and Moghadam, Behrooz Torabi and Turnbull, Clare and Wareham, Nicholas J and Gudbjartsson, Daniel F and Kamatani, Yoichiro and Hoffmann, Eva R and Jackson, Steve P and Stefansson, Kari and Auton, Adam and Ong, Ken K and Machiela, Mitchell J and Loh, Po-Ru and Dumanski, Jan P and Chanock, Stephen J and Forsberg, Lars A and Perry, John R. B and 23andMe Research Team and Consortium of Investigators of Modifiers of BRCA1/2 and Biobank-based Integrative Omics Study (BIOS) Consortium and The Kidney Cancer GWAS Meta-Analysis Project and The Breast Cancer Association Consortium and The Prostate Cancer Association Group to Investigate Cancer Associated Alterations in the Genome (PRACTICAL) Consortium and eQTLGen Consortium and International Lung Cancer Consortium (INTEGRAL-ILCCO) and The Ovarian Cancer Association Consortium and The Endometrial Cancer Association Consortium and Science for Life Laboratory, SciLifeLab and Medicinska fakulteten and Medicinska och farmaceutiska vetenskapsområdet and Institutionen för immunologi, genetik och patologi and Medicinsk genetik och genomik and Geriatrik and Uppsala universitet and Institutionen för medicinska vetenskaper and Institutionen för folkhälso- och vårdvetenskap
Nature, ISSN 0028-0836, 11/2019, Volume 575, Issue 7784, pp. 652 - 657
Mosaic loss of chromosome Y (LOY) in circulating white blood cells is the most common form of clonal mosaicism1-5, yet our knowledge of the causes and... 
Basic Medicine | Medical Genetics | Medicinsk genetik | Medical and Health Sciences | Medicin och hälsovetenskap | Medicinska och farmaceutiska grundvetenskaper
Journal Article
Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 01/2017, Volume 114, Issue 3, p. E327
  Genetic variants affecting hematopoiesis can influence commonly measured blood cell traits. To identify factors that affect hematopoiesis, we performed... 
Genotype & phenotype | Mutagenesis | Genomics | Cells
Journal Article
eLife, 05/2019, Volume 8
Genome-wide association studies (GWAS) have identified thousands of variants associated with human diseases and traits. However, the majority of... 
Journal Article
Journal of Clinical Investigation, ISSN 0021-9738, 06/2015, Volume 125, Issue 6, pp. 2363 - 2363
A transition from fetal hemoglobin (HbF) to adult hemoglobin (HbA) normally occurs within a few months after birth. Increased production of HbF after this... 
Journal Article
Pain, ISSN 0304-3959, 2/2014, Volume 155, Issue 2, pp. 309 - 321
Debate continues regarding the influence of litigation on pain outcomes after motor vehicle collision (MVC). In this study we enrolled European Americans... 
Journal Article
Journal of Clinical Investigation, ISSN 0021-9738, 07/2015, Volume 125, Issue 7, p. 2369
Transfusion of donor-derived platelets is commonly used for thrombocytopenia, which results from a variety of clinical conditions and relies on a constant... 
Journal Article
Journal of Clinical Investigation, ISSN 0021-9738, 06/2015, Volume 125, Issue 6, pp. 2369 - 2369
Transfusion of donor-derived platelets is commonly used for thrombocytopenia, which results from a variety of clinical conditions and relies on a constant... 
Journal Article
Cold Spring Harbor molecular case studies, 11/2017, Volume 3, Issue 6
Whole-exome sequencing (WES) has been increasingly useful for the diagnosis of patients with rare causes of anemia, particularly when there is an atypical... 
Young Adult | Exome - genetics | alpha-Globins - genetics | Humans | beta-Thalassemia - genetics | Genotype | Male | DNA Copy Number Variations - genetics | Mutation - genetics | Whole Exome Sequencing - methods | beta-Globins - genetics | alpha-Globins - metabolism
Journal Article
Cold Spring Harbor molecular case studies, ISSN 2373-2865, 11/2017, Volume 3, Issue 6, p. a001941
Whole-exome sequencing (WES) has been increasingly useful for the diagnosis of patients with rare causes of anemia, particularly when there is an atypical... 
hypochromic microcytic anemia | reduced beta/alpha synthesis ratio | Research Report | alpha synthesis ratio | reduced beta
Journal Article
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