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Author Details

Deborah L French
1986
126
40
PMIDPaper TitleJournal TitlePublished Year
37422949Generation of a human Tropomyosin 1 knockout iPSC line.2023
36075864Platelet findings in 22q11.2 deletion syndrome correlate with disease manifestations but do not correlate with GPIb surface expression.Clin Genet2023
37677872Generation of CHOPi-008-B, a euploid iPSC line from a patient with Trisomy 21 and a GATA1 mutation.2023
37906251Synergistic roles of DYRK1A and GATA1 in trisomy 21 megakaryopoiesis.2023
37643495Generation of CHOPe003-A ESC line to study an ACTG2 variant affecting smooth muscle development and function.2023
37572398Generation of CHOPi012-A iPSC line from a patient with visceral myopathy-related chronic intestinal pseudo-obstruction.2023
37149717Mapping PTBP2 binding in human brain identifies SYNGAP1 as a target for therapeutic splice switching.Nat Commun2023
37084616Generation of 2 isogenic clones from a patient with Trisomy 21 and a GATA1 mutation.2023
37205377Generation of a human knockout iPSC line.2023
37003180Generation of three induced Pluripotent Stem Cell lines from individuals with Hypomyelination with Atrophy of Basal Ganglia and Cerebellum caused by a c.745G>A (p.D249N) autosomal dominant mutation in TUBB4A.2023
37433783Gain and loss of function variants in EZH1 disrupt neurogenesis and cause dominant and recessive neurodevelopmental disorders.Nat Commun2023
37425875High density SNP array and reanalysis of genome sequencing uncovers CNVs associated with neurodevelopmental disorders in KOLF2.1J iPSCs.bioRxiv2023
36789546Drug screening identifies tazarotene and bexarotene as therapeutic agents in multiple sulfatase deficiency.2023
37546772Cross-site reproducibility of human cortical organoids reveals consistent cell type composition and architecture.2023
35325615PPARdelta activation induces metabolic and contractile maturation of human pluripotent stem cell-derived cardiomyocytes.Cell Stem Cell2022
35839075Defective RAB31-mediated megakaryocytic early endosomal trafficking of VWF, EGFR, and M6PR in RUNX1 deficiency.Blood Adv2022
35579838Genome Engineering Human ESCs or iPSCs with Cytosine and Adenine Base Editors.Methods in Molecular Biology2022
35925681Relieving DYRK1A repression of MKL1 confers an adult-like phenotype to human infantile megakaryocytes.J Clin Invest2022
36426905Highly Efficient CRISPR/Cas9-Mediated Genome Editing in Human Pluripotent Stem Cells.Current Protocols2022
35977098The use of pluripotent stem cells to generate diagnostic tools for transfusion medicine.Blood2022
34653400Loss of TBX3 enhances pancreatic progenitor generation from human pluripotent stem cells.Stem Cell Reports2021
34019812Study of inherited thrombocytopenia resulting from mutations in ETV6 or RUNX1 using a human pluripotent stem cell model.Stem Cell Reports2021
33569577RUNX-1 haploinsufficiency causes a marked deficiency of megakaryocyte-biased hematopoietic progenitor cells.Blood2021
33560381Restoring RUNX1 deficiency in RUNX1 familial platelet disorder by inhibiting its degradation.Blood Adv2021
33300436Derivation and investigation of the first human cell-based model of Beckwith-Wiedemann syndrome.Epigenetics2021
34397590Modeling genetic platelet disorders with human pluripotent stem cells: mega-progress but wanting more on our plate(let).Current Opinion in Hematology2021
33202304Generation of human control iPSC line CHOPi004-A from juvenile foreskin fibroblast cells.Stem Cell Research2020
31960055A Dual Reporter EndoC-βH1 Human β-Cell Line for Efficient Quantification of Calcium Flux and Insulin Secretion.Endocrinology2020
32408895Tropomyosin 1 genetically constrains in vitro hematopoiesis.BMC Biol2020
32442395A Non-Coding Disease Modifier of Pancreatic Agenesis Identified by Genetic Correction in a Patient-Derived iPSC Line.2020
33768218Mechanistic and Translational Advances Using iPSC-Derived Blood Cells.2020
33316598Generation of a double insulin and somatostatin reporter line, SCSe001-A-3, for the advancement of stem cell-derived pancreatic islets.Stem Cell Research2020
31374199Modeling Monogenic Diabetes using Human ESCs Reveals Developmental and Metabolic Deficiencies Caused by Mutations in HNF1A.2019
31609348Generation of Defined Genomic Modifications Using CRISPR-CAS9 in Human Pluripotent Stem Cells.Journal of Visualized Experiments2019
30358158Highly Efficient CRISPR-Cas9-Mediated Genome Editing in Human Pluripotent Stem Cells.Current Protocols in Stem Cell Biology2019
29884903Mutation-specific signaling profiles and kinase inhibitor sensitivities of juvenile myelomonocytic leukemia revealed by induced pluripotent stem cells.Leukemia2019
30611021Generation of Spinocerebellar Ataxia Type 2 induced pluripotent stem cell lines, CHOPi002-A and CHOPi003-A, from patients with abnormal CAG repeats in the coding region of the ATXN2 gene.Stem Cell Research2019
31036722Infused factor VIII-expressing platelets or megakaryocytes as a novel therapeutic strategy for hemophilia A.Blood advances2019
29289717Exploring the Interaction Between eIF2α Dysregulation, Acute Endoplasmic Reticulum Stress and DYT1 Dystonia in the Mammalian Brain.Neuroscience2018
29889101GATA6 suppression enhances lung specification from human pluripotent stem cells.Journal of Clinical Investigation2018
30096712Generation of a human Juvenile myelomonocytic leukemia iPSC line, CHOPi001-A, with a mutation in CBL.Stem Cell Res2018
28196690GATA6 Plays an Important Role in the Induction of Human Definitive Endoderm, Development of the Pancreas, and Functionality of Pancreatic β Cells.Stem Cell Reports2017
28432223FLI1 level during megakaryopoiesis affects thrombopoiesis and platelet biology.Blood2017
28455282Identifying and enriching platelet-producing human stem cell-derived megakaryocytes using factor V uptake.Blood2017
28982668Induced Pluripotent Stem Cell-Derived Megakaryocytes and Platelets for Disease Modeling and Future Clinical Applications.Arteriosclerosis, Thrombosis, and Vascular Biology2017
26634302CRISPR/Cas9-mediated conversion of human platelet alloantigen allotypes.Blood2016
25630922A Doxycycline-Inducible System for Genetic Correction of iPSC Disease Models.Methods in Molecular Biology2016
27345999Generation of human control iPS cell line CHOPWT10 from healthy adult peripheral blood mononuclear cells.Stem Cell Research2016
27345985Generation of Hermansky Pudlak syndrome type 2 (HPS2) induced pluripotent stem cells (iPSCs).Stem Cell Research2016
27345974Generation of Hermansky-Pudlak Syndrome Type 1 (HPS1) induced pluripotent stem cells (iPSCs).Stem Cell Research2016
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