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Author Details
Full Name
Jessica Giordano
Affiliation
Columbia University Irving Medical Center
ORCID
Career Start Year
2015
Papers
24
H Index
10
Expertise
CM4AI Collaborator
PMID
Paper Title
Journal Title
Published Year
37953324
The Human Phenotype Ontology in 2024: phenotypes around the world.
Nucleic Acids Res
2024
36209938
Should we offer prenatal exome sequencing for intrauterine growth restriction or short long bones? A systematic review and meta-analysis.
Am J Obstet Gynecol
2023
37595579
Systematic evaluation of genome sequencing for the diagnostic assessment of autism spectrum disorder and fetal structural anomalies.
Am J Hum Genet
2023
36959127
Investigation into the genetics of fetal congenital lymphatic anomalies.
Prenat Diagn
2023
36745127
Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort.
Genet Med
2023
35078725
Diagnostic sequencing to support genetically stratified medicine in a tertiary care setting.
Genet Med
2022
35411553
Fetal central nervous system anomalies: When should we offer exome sequencing?
Prenat Diagn
2022
35476893
Information is power: The experiences, attitudes and needs of individuals who chose to have prenatal genomic sequencing for fetal anomalies.
Prenat Diagn
2022
35579625
Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort.
Genet Med
2022
36403095
Prenatal phenotyping of fetal tubulinopathies: A multicenter retrospective case series.
Prenat Diagn
2022
35872606
Prenatal phenotyping: A community effort to enhance the Human Phenotype Ontology.
Am J Med Genet C Semin Med Genet
2022
34757671
Clinical genetic counselor experience in the adoption of telehealth in the United States and Canada during the COVID-19 pandemic.
J Genet Couns
2021
33791682
TMEM218 dysfunction causes ciliopathies, including Joubert and Meckel syndromes.
HGG Adv
2021
33847422
Fetal hydrops and the Incremental yield of Next-generation sequencing over standard prenatal Diagnostic testing (FIND) study: prospective cohort study and meta-analysis.
Ultrasound Obstet Gynecol
2021
33734519
COVID contingencies: Early epicenter experiences of different genetics clinics at a New York City institution inform emergency adaptation strategies.
J Genet Couns
2021
32786180
Causal Genetic Variants in Stillbirth.
N Engl J Med
2020
30712878
Whole-exome sequencing in the evaluation of fetal structural anomalies: a prospective cohort study.
Lancet
2019
31687260
Phenotypic Variation between Monochorionic Diamniotic Twins with Coffin-Siris Syndrome.
J Pediatr Genet
2019
29330883
Genotype-phenotype correlations in individuals with pathogenic RERE variants.
Hum Mutat
2018
30035818
Parental perceptions of prenatal whole exome sequencing (PPPWES) study.
Prenat Diagn
2018
29375865
Clinical whole exome sequencing from dried blood spot identifies novel genetic defect underlying asparagine synthetase deficiency.
Clin Case Rep
2017
27362553
Tay-Sachs Carrier Screening by Enzyme and Molecular Analyses in the New York City Minority Population.
Genet Test Mol Biomarkers
2016
26259055
Availability of Outpatient Rehabilitation Services for Children After Traumatic Brain Injury: Differences by Language and Insurance Status.
Am J Phys Med Rehabil
2016
26135064
Developing a Family-Centered Care Model for Critical Care After Pediatric Traumatic Brain Injury.
Pediatr Crit Care Med
2015
1 - 24 of 24
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