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Paper Details

Prospective, phenotype-driven selection of critically ill neonates for rapid exome sequencing is associated with high diagnostic yield.
Genet Med
80
2020
congenital malformations, critically, critically ill, disease genes, hypotonia, metabolic, patient, patients, seizures
Author NameAffiliation
Jill A MaddenBoston Children's Hospital
Jill A MaddenThe Manton Center for Orphan Disease Research, Boston Children's Hospital
Monica H WojcikBoston Children's Hospital
Monica H WojcikHarvard Medical School
Monica H WojcikBroad Institute of MIT and Harvard
Monica H WojcikThe Manton Center for Orphan Disease Research, Boston Children's Hospital
Monica H WojcikBoston Children's Hospital
Casie A GenettiBoston Children's Hospital
Casie A GenettiThe Manton Center for Orphan Disease Research, Boston Children's Hospital
Alan H BeggsBoston Children's Hospital
Alan H BeggsHarvard Medical School
Alan H BeggsThe Manton Center for Orphan Disease Research, Boston Children's Hospital
Pankaj B AgrawalBoston Children's Hospital
Pankaj B AgrawalHarvard Medical School
Pankaj B AgrawalThe Manton Center for Orphan Disease Research, Boston Children's Hospital
Pankaj B AgrawalBoston Children's Hospital
Timothy W YuBoston Children's Hospital
Timothy W YuHarvard Medical School
Timothy W YuBroad Institute of MIT and Harvard
Timothy W YuThe Manton Center for Orphan Disease Research, Boston Children's Hospital
Timothy W YuBoston Children's Hospital
Timothy W YuHarvard Medical School
Timothy W YuBroad Institute of MIT and Harvard
Timothy W YuThe Manton Center for Orphan Disease Research, Boston Children's Hospital
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