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Author Details

Jessica Giordano
Columbia University Irving Medical Center
2015
24
10
PMIDPaper TitleJournal TitlePublished Year
37953324The Human Phenotype Ontology in 2024: phenotypes around the world.Nucleic Acids Res2024
36209938Should we offer prenatal exome sequencing for intrauterine growth restriction or short long bones? A systematic review and meta-analysis.Am J Obstet Gynecol2023
37595579Systematic evaluation of genome sequencing for the diagnostic assessment of autism spectrum disorder and fetal structural anomalies.Am J Hum Genet2023
36959127Investigation into the genetics of fetal congenital lymphatic anomalies.Prenat Diagn2023
36745127Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort.Genet Med2023
35078725Diagnostic sequencing to support genetically stratified medicine in a tertiary care setting.Genet Med2022
35411553Fetal central nervous system anomalies: When should we offer exome sequencing?Prenat Diagn2022
35476893Information is power: The experiences, attitudes and needs of individuals who chose to have prenatal genomic sequencing for fetal anomalies.Prenat Diagn2022
35579625Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort.Genet Med2022
36403095Prenatal phenotyping of fetal tubulinopathies: A multicenter retrospective case series.Prenat Diagn2022
35872606Prenatal phenotyping: A community effort to enhance the Human Phenotype Ontology.Am J Med Genet C Semin Med Genet2022
34757671Clinical genetic counselor experience in the adoption of telehealth in the United States and Canada during the COVID-19 pandemic.J Genet Couns2021
33791682TMEM218 dysfunction causes ciliopathies, including Joubert and Meckel syndromes.HGG Adv2021
33847422Fetal hydrops and the Incremental yield of Next-generation sequencing over standard prenatal Diagnostic testing (FIND) study: prospective cohort study and meta-analysis.Ultrasound Obstet Gynecol2021
33734519COVID contingencies: Early epicenter experiences of different genetics clinics at a New York City institution inform emergency adaptation strategies.J Genet Couns2021
32786180Causal Genetic Variants in Stillbirth.N Engl J Med2020
30712878Whole-exome sequencing in the evaluation of fetal structural anomalies: a prospective cohort study.Lancet2019
31687260Phenotypic Variation between Monochorionic Diamniotic Twins with Coffin-Siris Syndrome.J Pediatr Genet2019
29330883Genotype-phenotype correlations in individuals with pathogenic RERE variants.Hum Mutat2018
30035818Parental perceptions of prenatal whole exome sequencing (PPPWES) study.Prenat Diagn2018
29375865Clinical whole exome sequencing from dried blood spot identifies novel genetic defect underlying asparagine synthetase deficiency.Clin Case Rep2017
27362553Tay-Sachs Carrier Screening by Enzyme and Molecular Analyses in the New York City Minority Population.Genet Test Mol Biomarkers2016
26259055Availability of Outpatient Rehabilitation Services for Children After Traumatic Brain Injury: Differences by Language and Insurance Status.Am J Phys Med Rehabil2016
26135064Developing a Family-Centered Care Model for Critical Care After Pediatric Traumatic Brain Injury.Pediatr Crit Care Med2015
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Collaborators

Columbia University
Co-authored papers 17
UCL Institute of Child Health and Great Ormond Street NHS Foundation Trust
Co-authored papers 3
University of California San Francisco
Co-authored papers 3
Vagelos College of Physicians and Surgeons, Columbia University
Co-authored papers 3
Institute for Genomic Medicine, Columbia University Irving Medical Center
Co-authored papers 3
Armand Trousseau Hospital, Sorbonne University
Co-authored papers 2
Center for the Science of Therapeutics, Broad Institute of MIT and Harvard
Co-authored papers 2
Institute de Pathologie et de Genetique ASBL
Co-authored papers 2
University of Washington
Co-authored papers 2
Institute of Medical and Molecular Genetics
Co-authored papers 2
Critical Path Institute
Co-authored papers 2
DOE Joint Genome Institute, Lawrence Berkeley National Laboratory
Co-authored papers 2
Boston Children's Hospital, Harvard Medical School
Co-authored papers 2
Co-authored papers 2
Institute of Medical Genetics and Applied Genomics, University of Tuebingen
Co-authored papers 2
Massachusetts General Hospital
Co-authored papers 2
Radboud University Medical Center
Co-authored papers 2
University of Washington
Co-authored papers 2
American Medical Informatics Association, Oregon Health and Science University, Oregon State University, University of Colorado Anschutz Medical Campus, University of North Carolina at Chapel Hill, University of Wisconsin-Madison
Co-authored papers 2
University of Colorado Anschutz Medical Campus
Co-authored papers 2
University of Washington
Co-authored papers 2
Co-authored papers 1
Co-authored papers 1
Donders Institute for Brain, Radboud University Medical Center
Co-authored papers 1
McGill University, Canada Shriners Hospital for Children-Canada
Co-authored papers 1
Co-authored papers 1
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Harvard Medical School
Co-authored papers 1
Dalhousie University
Co-authored papers 1
University of Washington
Co-authored papers 1