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Esteves, Cecilia
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1

The Undiagnosed Diseases Network: Characteristics of solvab..:

Mulvihill, John J. ; Findley, Laura ; Ni, Weihong...
Genetics in Medicine.  , 2024
Link: https://doi.org/10.1016/..
 
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2

O44: Genome sequencing as a first-tier prenatal diagnostic ..:

Jobanputra, Vaidehi ; Giordano, Jessica ; Pervola, Josie...
Genetics in Medicine Open.  2 (2024)  - p. 101663 , 2024
Link: https://doi.org/10.1016/..
 
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3

P780: Improving peripartum health is an unappreciated advan..:

Giordano, Jessica ; Pervola, Josie ; Wilson, Ashley...
Genetics in Medicine Open.  2 (2024)  - p. 101688 , 2024
Link: https://doi.org/10.1016/..
 
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4

86 Genome sequencing as a first-tier prenatal diagnostic te..:

Jobanputra, Vaidehi ; Giordano, Jessica L. ; Pervola, Josie...
American Journal of Obstetrics and Gynecology.  230 (2024)  1 - p. S64 , 2024
Link: https://doi.org/10.1016/..
 
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5

The contribution of mosaicism to genetic diseases and de no..:

Tinker, Rory J. ; Bastarache, Lisa ; Ezell, Kimberly...
American Journal of Medical Genetics Part A.  191 (2023)  10 - p. 2482-2492 , 2023
Link: https://doi.org/10.1002/..
 
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6

P328: The contribution of mosaicism to genetic diseases and..:

Tinker, Rory ; Bastarache, Lisa ; Ezell, Kimberly...
Genetics in Medicine Open.  1 (2023)  1 - p. 100356 , 2023
Link: https://doi.org/10.1016/..
 
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7

Clinical sites of the Undiagnosed Diseases Network: unique ..:

Schoch, Kelly ; Esteves, Cecilia ; Bican, Anna...
Genetics in Medicine.  23 (2021)  2 - p. 259-271 , 2021
Link: https://doi.org/10.1038/..
 
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8

Finding commonalities in rare diseases through the undiagno..:

Yates, Josephine ; Gutiérrez-Sacristán, Alba ; Jouhet, Vianney...
Journal of the American Medical Informatics Association.  28 (2021)  8 - p. 1694-1702 , 2021
Link: https://doi.org/10.1093/..
 
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9

Commonalities across computational workflows for uncovering..:

Kobren, Shilpa Nadimpalli ; Baldridge, Dustin ; Velinder, Matt...
Genetics in Medicine.  23 (2021)  6 - p. 1075-1085 , 2021
Link: https://doi.org/10.1038/..
 
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10

Sequencing and curation strategies for identifying candidat..:

Frank, Mayu O. ; Koyama, Takahiko ; Rhrissorrakrai, Kahn...
BMC Medical Genomics.  12 (2019)  1 - p. , 2019
Link: https://doi.org/10.1186/..
 
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11

Correction to: Sequencing and curation strategies for ident..:

Frank, Mayu O. ; Koyama, Takahiko ; Rhrissorrakrai, Kahn...
BMC Medical Genomics.  12 (2019)  1 - p. , 2019
Link: https://doi.org/10.1186/..
 
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12

Characteristics of undiagnosed diseases network applicants:..:

Undiagnosed Diseases Network ; Walley, Nicole M. ; Pena, Loren D. M....
BMC Health Services Research.  18 (2018)  1 - p. , 2018
Link: https://doi.org/10.1186/..
 
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13

Clinical whole exome sequencing from dried blood spot ident..:

Abhyankar, Avinash ; Lamendola‐Essel, Michelle ; Brennan, Kelly...
Clinical Case Reports.  6 (2017)  1 - p. 200-205 , 2017
Link: https://doi.org/10.1002/..
 
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14

Using FISH to increase the yield and accuracy of karyotypes..:

Jobanputra, Vaidehi ; Esteves, Cecilia ; Sobrino, Antonio...
Prenatal Diagnosis.  31 (2011)  8 - p. 755-759 , 2011
Link: https://doi.org/10.1002/..
 
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15

A novel DPH5-related diphthamide-deficiency syndrome causin..:

Shankar, Suma P ; Grimsrud, Kristin ; Lanoue, Louise...
qt9kg2s7vk.  , 2022
Link: https://escholarship.org..
 
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