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Author Details

Piotr Sliz
The Manton Center for Orphan Disease Research, Boston Children's Hospital
1996
68
32
Andrej Sali (CM4AI)
PMIDPaper TitleJournal TitlePublished Year
37471090Utility of Exome Sequencing for Diagnosis in Unexplained Pediatric-Onset Epilepsy.JAMA Netw Open2023
37621556Toward representative genomic research: the children's rare disease cohorts experience.Ther Adv Rare Dis2023
37544429Rethinking Immunological Risk: A Retrospective Cohort Study of Severe SARS-Cov-2 Infections in Individuals With Congenital Immunodeficiencies.J Allergy Clin Immunol Pract2023
37333367Rethinking immunologic risk: a retrospective cohort study of severe SARS-CoV-2 infections in individuals with congenital immunodeficiencies.medRxiv2023
34677878Congenital X-linked neutropenia with myelodysplasia and somatic tetraploidy due to a germline mutation in SEPT6.Am J Hematol2022
35452593Structural and functional impact by SARS-CoV-2 Omicron spike mutations.Cell Rep2022
36497057Long-Term Characteristics of Human-Derived Biliary Organoids under a Single Continuous Culture Condition.Cells2022
35076175Mendelian etiologies identified with whole exome sequencing in cerebral palsy.Ann Clin Transl Neurol2022
35087509Corrigendum: Molecular Dissection of the Primase and Polymerase Activities of Deep-Sea Phage NrS-1 Primase-Polymerase.Front Microbiol2022
35300986Single-cell transcriptome profile of mouse skin undergoing antigen-driven allergic inflammation recapitulates findings in atopic dermatitis skin lesions.J Allergy Clin Immunol2022
34411431A synonymous coding variant that alters ALAS2 splicing and causes X-linked sideroblastic anemia.Pediatr Blood Cancer2022
34514437A data-driven architecture using natural language processing to improve phenotyping efficiency and accelerate genetic diagnoses of rare disorders.HGG Adv2021
33693820Maternal Iron Deficiency Modulates Placental Transcriptome and Proteome in Mid-Gestation of Mouse Pregnancy.J Nutr2021
33727252Structural impact on SARS-CoV-2 spike protein by D614G substitution.Science2021
34975792Molecular Dissection of the Primase and Polymerase Activities of Deep-Sea Phage NrS-1 Primase-Polymerase.Front Microbiol2021
32427338RiboToolkit: an integrated platform for analysis and annotation of ribosome profiling data to decode mRNA translation at codon resolution.Nucleic Acids Res2020
32060122A nanobody targeting the LIN28:let-7 interaction fragment of TUT4 blocks uridylation of let-7.Proc Natl Acad Sci U S A2020
33083806Structural impact on SARS-CoV-2 spike protein by D614G substitution.bioRxiv2020
32832023Virtual Screening for Ligand Discovery at the Ï¿<sub>1</sub> Receptor.ACS Med Chem Lett2020
32655885Children's rare disease cohorts: an integrative research and clinical genomics initiative.NPJ Genom Med2020
28937848MightyScreen: An Open-Source Visualization Application for Screening Data Analysis.SLAS Discov2018
30232453mRNA circularization by METTL3-eIF3h enhances translation and promotes oncogenesis.Nature2018
29874593Small-Molecule Inhibitors Disrupt let-7 Oligouridylation and Release the Selective Blockade of let-7 Processing by LIN28.Cell Rep2018
30328274In silico Screening and Evaluation of Plasmodium falciparum Protein Kinaseâ¿¿5 (PK5) Inhibitors.ChemMedChem2018
27862010Extension of research data repository system to support direct compute access to biomedical datasets: enhancing Dataverse to support large datasets.Ann N Y Acad Sci2017
28089446STK40 Is a Pseudokinase that Binds the E3 Ubiquitin Ligase COP1.Structure2017
28223502Cryo-EM structure of the replisome reveals multiple interactions coordinating DNA synthesis.Proc Natl Acad Sci U S A2017
28297670LIN28 Zinc Knuckle Domain Is Required and Sufficient to Induce let-7 Oligouridylation.Cell Rep2017
29244735Development of the Precision Link Biobank at Boston Children's Hospital: Challenges and Opportunities.J Pers Med2017
28945502Comparative analysis of LIN28-RNA binding sites identified at single nucleotide resolution.RNA Biol2017
27846380Pulmonary Vasculopathy Associated with FIGF Gene Mutation.Am J Pathol2017
26947396Data publication with the structural biology data grid supports live analysis.Nat Commun2016
27320042LIN28 Regulates Stem Cell Metabolism and Conversion to Primed Pluripotency.Cell Stem Cell2016
25387399Science and technology consortia in U.S. biomedical research: a paradigm shift in response to unsustainable academic growth.Bioessays2015
26583201Pinpointing RNA-Protein Cross-Links with Site-Specific Stable Isotope-Labeled Oligonucleotides.J Am Chem Soc2015
26255770A Biogenesis Step Upstream of Microprocessor Controls miR-17⿼92 Expression.Cell2015
25955101AppCiter: A Web Application for Increasing Rates and Accuracy of Scientific Software Citation.Structure2015
25111632Chemical interrogation of the malaria kinome.Chembiochem2014
25223788Selective microRNA uridylation by Zcchc6 (TUT7) and Zcchc11 (TUT4).Nucleic Acids Res2014
23869002Optimizing peer review of software code.Science2013
24040512Collaboration gets the most out of software.Elife2013
23828134Structural biology computing: Lessons for the biomedical research sciences.Biopolymers2013
22349228A grid-enabled web service for low-resolution crystal structure refinement.Acta Crystallogr D Biol Crystallogr2012
22844236A quick guide to software licensing for the scientist-programmer.PLoS Comput Biol2012
22499926Research priorities. Shining light into black boxes.Science2012
22514186Adapting federated cyberinfrastructure for shared data collection facilities in structural biology.J Synchrotron Radiat2012
22325781Conformational locking upon cooperative assembly of notch transcription complexes.Structure2012
21240259Structure of human O-GlcNAc transferase and its complex with a peptide substrate.Nature2011
22082911A neutral diphosphate mimic crosslinks the active site of human O-GlcNAc transferase.Nat Chem Biol2011
22078496Molecular basis for interaction of let-7 microRNAs with Lin28.Cell2011
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Collaborators

Andrew Morin
Harvard Medical School
Co-authored papers 6
George Q Daley
Boston Children's Hospital, Harvard Medical School
Co-authored papers 5
Catherine A Brownstein
Harvard Medical School.
Co-authored papers 3
Tianshu Xiao
Co-authored papers 3
Andrew C Kruse
Blavatnik Institute, Harvard Medical School
Co-authored papers 3
Yifan Cheng
Quantitative Bioscience Institute, University of California san francisco
Co-authored papers 3
Yongfei Cai
Co-authored papers 3
Bing Chen
Co-authored papers 3
Jon Clardy
Harvard Medical School, Blavatnik Institute
Co-authored papers 2
Alan H Beggs
Broad Institute of MIT and Harvard
Co-authored papers 2
Ian Foster
Argonne National Laboratory
Co-authored papers 2
Susan Kornetsky
Clinical Research Compliance, Boston Children's Hospital
Co-authored papers 2
Jennifer Urban
Co-authored papers 2
Merc?? Crosas
Institute for Quantitative Social Science, Harvard University
Co-authored papers 2
Casie A Genetti
Boston Children's Hospital
Co-authored papers 1
Ashley M Deacon
Accelero Biostructures Inc., USA XPose Therapeutics Inc.
Co-authored papers 1
Sirano Dhe-Paganon
Dana-Farber Cancer Institute
Co-authored papers 1
Mustafa Sahin
Harvard Medical School
Co-authored papers 1
Biju Issac
Co-authored papers 1
Tram Tran
university of california los angeles Santa Monica Medical Center
Co-authored papers 1
Anne O'Donnell-Luria
Broad Institute of MIT and Harvard
Co-authored papers 1
Emily C Tjon
Co-authored papers 1
Sean Crosson
Co-authored papers 1
Hu Li
Co-authored papers 1
Tarjei S Mikkelsen
Harvard University, USA Broad Institute, USA Harvard Stem Cell Institute
Co-authored papers 1
Alicia Casey
Boston Children's Hospital, Harvard Medical School
Co-authored papers 1
Dyann F Wirth
The Broad Institute
Co-authored papers 1
James J Chou
Harvard Medical School
Co-authored papers 1
Jill A Madden
Boston Children's Hospital
Co-authored papers 1
Timothy W Yu
Harvard Medical School
Co-authored papers 1
Release 1.2