Author details

Full Name

Jacob C Ulirsch

Affiliation

ORCID

Career Start Year

2013

Papers

H Index

Expertise

CM4AI Collaborator

PMID	Paper Title	Journal Title	Published Year
38036779	Improving fine-mapping by modeling infinitesimal effects.	Nat Genet	2024
37443254	Leveraging polygenic enrichments of gene features to predict genes underlying complex traits and diseases.	Nat Genet	2023
37586368	RNA polymerase II pausing temporally coordinates cell cycle progression and erythroid differentiation.	Dev Cell	2023
36653562	FinnGen provides genetic insights from a well-phenotyped isolated population.	Nature	2023
36829046	Author Correction: FinnGen provides genetic insights from a well-phenotyped isolated population.	Nature	2023
36945604	RNA Polymerase II pausing temporally coordinates cell cycle progression and erythroid differentiation.	medRxiv	2023
37066341	Systematic visualisation of molecular QTLs reveals variant mechanisms at GWAS loci.	bioRxiv	2023
35030251	Congenital anemia reveals distinct targeting mechanisms for master transcription factor GATA1.	Blood	2022
34475398	Functional characterization of T2D-associated SNP effects on baseline and ER stress-responsive Î² cell transcriptional activation.	Nat Commun	2021
33462486	Tractor uses local ancestry to enable the inclusion of admixed individuals in GWAS and to boost power.	Nat Genet	2021
33828297	Genome-wide enhancer maps link risk variants to disease genes.	Nature	2021
34326544	Direct characterization of cis-regulatory elements and functional dissection of complex genetic associations using HCR-FlowFISH.	Nat Genet	2021
34497403	Author Correction: Direct characterization of cis-regulatory elements and functional dissection of complex genetic associations using HCR-FlowFISH.	Nat Genet	2021
33199916	Functionally informed fine-mapping and polygenic localization of complex trait heritability.	Nat Genet	2020
32144282	Prioritizing disease and trait causal variants at the TNFAIP3 locus using functional and genomic features.	Nat Commun	2020
31959994	Control of human hemoglobin switching by LIN28B-mediated regulation of BCL11A translation.	Nat Genet	2020
30827679	Lineage Tracing in Humans Enabled by Mitochondrial Mutations and Single-Cell Genomics.	Cell	2019
31748747	Genetic predisposition to mosaic Y chromosome loss in blood.	Nature	2019
31189107	Transcriptional States and Chromatin Accessibility Underlying Human Erythropoiesis.	Cell Rep	2019
31033440	HRI coordinates translation necessary for protein homeostasis and mitochondrial function in erythropoiesis.	eLife	2019
30914438	Impaired human hematopoiesis due to a cryptic intronic <i>GATA1</i> splicing mutation.	J Exp Med	2019
30858613	Interrogation of human hematopoiesis at single-cell and single-variant resolution.	Nat Genet	2019
31070582	Gene-centric functional dissection of human genetic variation uncovers regulators of hematopoiesis.	Elife	2019
30735661	The Genetic Landscape of Diamond-Blackfan Anemia.	Am J Hum Genet	2019
29590102	Common Î±-globin variants modify hematologic and other clinical phenotypes in sickle cell trait and disease.	PLoS Genet	2018
30503522	The Genetic Landscape of Diamond-Blackfan Anemia.	Am J Hum Genet	2018
30150775	The NORAD lncRNA assembles a topoisomerase complex critical for genome stability.	Nature	2018
30279576	Publisher Correction: The NORAD lncRNA assembles a topoisomerase complex critical for genome stability.	Nature	2018
30177862	Detecting genome-wide directional effects of transcription factor binding on polygenic disease risk.	Nat Genet	2018
29551269	Ribosome Levels Selectively Regulate Translation and Lineage Commitment in Human Hematopoiesis.	Cell	2018
28031487	Comprehensive population-based genome sequencing provides insight into hematopoietic regulatory mechanisms.	Proc Natl Acad Sci U S A	2017
28667000	Whole-exome sequencing identifies an Î±-globin cluster triplication resulting in increased clinical severity of Î²-thalassemia.	Cold Spring Harbor molecular case studies	2017
28615220	Confounding in ex vivo models of Diamond-Blackfan anemia.	Blood	2017
28568895	Developmentally-faithful and effective human erythropoiesis in immunodeficient and Kit mutant mice.	American Journal of Hematology	2017
28283061	Functional Selectivity in Cytokine Signaling Revealed Through a Pathogenic EPO Mutation.	Cell	2017
27667165	A novel pathogenic mutation in RPL11 identified in a patient diagnosed with diamond Blackfan anemia as a young adult.	Blood Cells, Molecules, and Diseases	2016
26846448	Advances in understanding erythropoiesis: evolving perspectives.	British Journal of Haematology	2016
27044088	Insight into GATA1 transcriptional activity through interrogation of cis elements disrupted in human erythroid disorders.	Proceedings of the National Academy of Sciences of the United States of America	2016
27259154	Systematic Functional Dissection of Common Genetic Variation Affecting Red Blood Cell Traits.	Cell	2016
26607381	Targeted Application of Human Genetic Variation Can Improve Red Blood Cell Production from Stem Cells.	Cell Stem Cell	2016
26588823	Association of Epidemiologic Factors and Genetic Variants Influencing Hypothalamic-Pituitary-Adrenocortical Axis Function With Postconcussive Symptoms After Minor Motor Vehicle Collision.	Psychosom Med	2016
27551681	Exome sequencing results in successful diagnosis and treatment of a severe congenital anemia.	Cold Spring Harb Mol Case Stud	2016
25938782	BCL11A deletions result in fetal hemoglobin persistence and neurodevelopmental alterations.	J Clin Invest	2015
25705881	X-linked macrocytic dyserythropoietic anemia in females with an ALAS2 mutation.	J Clin Invest	2015
25615569	Genome-wide association study follow-up identifies cyclin A2 as a regulator of the transition through cytokinesis during terminal erythropoiesis.	American Journal of Hematology	2015
25961454	Inducible Gata1 suppression expands megakaryocyte-erythroid progenitors from embryonic stem cells.	Journal of Clinical Investigation	2015
25107859	No man is an island: living in a disadvantaged neighborhood influences chronic pain development after motor vehicle collision.	Pain	2014
25521328	Altered chromatin occupancy of master regulators underlies evolutionary divergence in the transcriptional landscape of erythroid differentiation.	PLoS Genet	2014
24145211	Incidence and predictors of neck and widespread pain after motor vehicle collision among US litigants and nonlitigants.	Pain	2014
24019249	Pain and somatic symptoms are sequelae of sexual assault: results of a prospective longitudinal study.	Eur J Pain	2014