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List of works by Jacob C Ulirsch

A novel pathogenic mutation in RPL11 identified in a patient diagnosed with diamond Blackfan anemia as a young adult

scientific article published on 17 August 2016

Advances in understanding erythropoiesis: evolving perspectives

scientific article published on 5 February 2016

Altered chromatin occupancy of master regulators underlies evolutionary divergence in the transcriptional landscape of erythroid differentiation

scientific article published on 18 December 2014

Association of Epidemiologic Factors and Genetic Variants Influencing Hypothalamic-Pituitary-Adrenocortical Axis Function With Postconcussive Symptoms After Minor Motor Vehicle Collision

scientific article

BCL11A deletions result in fetal hemoglobin persistence and neurodevelopmental alterations

scientific article

Common α-globin variants modify hematologic and other clinical phenotypes in sickle cell trait and disease.

scientific article published on 28 March 2018

Comprehensive population-based genome sequencing provides insight into hematopoietic regulatory mechanisms

scientific article published on 28 December 2016

Comprehensive population-based genome sequencing provides insight into hematopoietic regulatory mechanisms

Confounding in ex vivo models of Diamond-Blackfan anemia

scientific article published on 14 June 2017

Control of human hemoglobin switching by LIN28B-mediated regulation of BCL11A translation

scientific article published on 20 January 2020

Detecting genome-wide directional effects of transcription factor binding on polygenic disease risk

Detecting genome-wide directional effects of transcription factor binding on polygenic disease risk

scientific article published on 03 September 2018

Developmentally-faithful and effective human erythropoiesis in immunodeficient and Kit mutant mice

scientific article published on 31 May 2017

Exome sequencing results in successful diagnosis and treatment of a severe congenital anemia

scientific article published on July 2016

Functional Selectivity in Cytokine Signaling Revealed Through a Pathogenic EPO Mutation

scientific journal article

Functional characterization of T2D-associated SNP effects on baseline and ER stress-responsive β cell transcriptional activation

scientific article published on 02 September 2021

Functionally informed fine-mapping and polygenic localization of complex trait heritability

scientific article published on 16 November 2020

Gene-centric functional dissection of human genetic variation uncovers regulators of hematopoiesis

Gene-centric functional dissection of human genetic variation uncovers regulators of hematopoiesis

scientific article published on 09 May 2019

Genome-wide association study follow-up identifies cyclin A2 as a regulator of the transition through cytokinesis during terminal erythropoiesis

scientific article published on 5 February 2015

Genome-wide enhancer maps link risk variants to disease genes

scientific article published on 07 April 2021

HRI coordinates translation necessary for protein homeostasis and mitochondrial function in erythropoiesis

scientific article published on 29 April 2019

Impaired human hematopoiesis due to a cryptic intronic GATA1 splicing mutation

scientific article published on 26 March 2019

Incidence and predictors of neck and widespread pain after motor vehicle collision among US litigants and nonlitigants

scientific article published on 18 October 2013

Inducible Gata1 suppression expands megakaryocyte-erythroid progenitors from embryonic stem cells

scientific article

Insight into GATA1 transcriptional activity through interrogation of cis elements disrupted in human erythroid disorders

scientific article published on 4 April 2016

Interrogation of human hematopoiesis at single-cell and single-variant resolution

scholarly article published 28 January 2018

Interrogation of human hematopoiesis at single-cell and single-variant resolution

scientific article published on 11 March 2019

Iron and Heme Coordinate Erythropoiesis through HRI-Mediated Regulation of Protein Translation and Gene Expression

article

Lineage Tracing in Humans Enabled by Mitochondrial Mutations and Single-Cell Genomics

scientific article published on 28 February 2019

No man is an island: living in a disadvantaged neighborhood influences chronic pain development after motor vehicle collision

scientific article

Pain and somatic symptoms are sequelae of sexual assault: results of a prospective longitudinal study

scientific article

Polymorphisms in the glucocorticoid receptor co-chaperone FKBP5 predict persistent musculoskeletal pain after traumatic stress exposure

scientific article

Prioritizing disease and trait causal variants at the TNFAIP3 locus using functional and genomic features

scientific article published on 06 March 2020

Response to letter to the Editor

scientific article published on 21 April 2014

Ribosome Levels Selectively Regulate Translation and Lineage Commitment in Human Hematopoiesis

scientific article published on 9 March 2018

Systematic Functional Dissection of Common Genetic Variation Affecting Red Blood Cell Traits

scientific article

Targeted Application of Human Genetic Variation Can Improve Red Blood Cell Production from Stem Cells

scientific article

The Genetic Landscape of Diamond-Blackfan Anemia

scientific article published on 29 November 2018

The Genetic Landscape of Diamond-Blackfan Anemia

The NORAD lncRNA assembles a topoisomerase complex critical for genome stability

scientific article published in Nature

Transcriptional States and Chromatin Accessibility Underlying Human Erythropoiesis

scientific article published on 01 June 2019

Vimentin DNA methylation predicts survival in breast cancer

scientific article

Whole-exome sequencing identifies an α-globin cluster triplication resulting in increased clinical severity of β-thalassemia

scientific article published on 30 June 2017

X-linked macrocytic dyserythropoietic anemia in females with an ALAS2 mutation

scientific article

μ-Opioid receptor gene A118G polymorphism predicts pain recovery after sexual assault

scientific article

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