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Author Details
Full Name
Cecilia Esteves
Affiliation
Harvard Medical School
ORCID
Career Start Year
2011
Papers
9
H Index
6
Expertise
CM4AI Collaborator
PMID
Paper Title
Journal Title
Published Year
37246601
The contribution of mosaicism to genetic diseases and de novo pathogenic variants.
Am J Med Genet A
2023
34009343
Finding commonalities in rare diseases through the undiagnosed diseases network.
J Am Med Inform Assoc
2021
31023376
Sequencing and curation strategies for identifying candidate glioblastoma treatments.
BMC Med Genomics
2019
31375115
Correction to: Sequencing and curation strategies for identifying candidate glioblastoma treatments.
BMC Med Genomics
2019
30304647
Effect of Genetic Diagnosis on Patients with Previously Undiagnosed Disease.
N Engl J Med
2018
30134969
Characteristics of undiagnosed diseases network applicants: implications for referring providers.
BMC Health Serv Res
2018
29375865
Clinical whole exome sequencing from dried blood spot identifies novel genetic defect underlying asparagine synthetase deficiency.
Clin Case Rep
2017
25043231
Prenatal diagnosis of chromothripsis, with nine breaks characterized by karyotyping, FISH, microarray and whole-genome sequencing.
Prenat Diagn
2015
21484844
Using FISH to increase the yield and accuracy of karyotypes from spontaneous abortion specimens.
Prenat Diagn
2011
1 - 9 of 9
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Kimberly H LeBlanc
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John A Boockvar
Lenox Hill Hospital
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