Lista de obras -

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

artículo científico publicado en 2016

Advances in understanding erythropoiesis: evolving perspectives

artículo científico publicado en 2016

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

artículo científico publicado en 2014

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

artículo científico publicado en 2015

BCL11A deletions result in fetal hemoglobin persistence and neurodevelopmental alterations

artículo científico publicado en 2015

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

artículo científico publicado en 2018

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

artículo científico publicado en 2016

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

Confounding in ex vivo models of Diamond-Blackfan anemia

artículo científico publicado en 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

artículo científico publicado en 2018

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

artículo científico

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

artículo científico publicado en 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

artículo científico publicado en 2021

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

artículo científico publicado en 2020

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

artículo científico publicado en 2019

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

artículo científico publicado en 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

artículo científico publicado en 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

artículo científico publicado en 2013

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

artículo científico publicado en 2015

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

artículo científico publicado en 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

artículo científico publicado en 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

artículo científico publicado en 2019

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

artículo científico publicado en 2014

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

artículo científico publicado en 2013

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

artículo científico publicado en 2013

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

artículo científico publicado en 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

artículo científico publicado en 2018

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

artículo científico publicado en 2016

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

artículo científico publicado en 2015

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

artículo científico publicado en 2018

Transcriptional States and Chromatin Accessibility Underlying Human Erythropoiesis

artículo científico publicado en 2019

Vimentin DNA methylation predicts survival in breast cancer

artículo científico publicado en 2012

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

artículo científico publicado en 2017

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

artículo científico publicado en 2015

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

artículo científico publicado en 2012

Lista de obras de

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

Advances in understanding erythropoiesis: evolving perspectives

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

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

BCL11A deletions result in fetal hemoglobin persistence and neurodevelopmental alterations

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

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

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

Confounding in ex vivo models of Diamond-Blackfan anemia

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

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

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

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

Functional Selectivity in Cytokine Signaling Revealed Through a Pathogenic EPO Mutation

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

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

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

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

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

Genome-wide enhancer maps link risk variants to disease genes

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

Impaired human hematopoiesis due to a cryptic intronic GATA1 splicing mutation

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

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

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

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

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

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

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

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

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

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

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

Response to letter to the Editor

Ribosome Levels Selectively Regulate Translation and Lineage Commitment in Human Hematopoiesis

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

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

The Genetic Landscape of Diamond-Blackfan Anemia

The Genetic Landscape of Diamond-Blackfan Anemia

The NORAD lncRNA assembles a topoisomerase complex critical for genome stability

Transcriptional States and Chromatin Accessibility Underlying Human Erythropoiesis

Vimentin DNA methylation predicts survival in breast cancer

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

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

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