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Paper Details

Underrepresentation of Phenotypic Variability of 16p13.11 Microduplication Syndrome Assessed With an Online Self-Phenotyping Tool (Phenotypr): Cohort Study.
J Med Internet Res
2
2021
16p13, BACKGROUND 16p13, Children, Participants, anxiety, asthma, chromosome 16p13, genetic disorders, immunological disorders, participants, patient, patients, person, rare
Biological Variation, Population, Cohort Studies, DNA Copy Number Variations, Family, Humans, Phenotype
Author NameAffiliation
Margaret A HojloBoston Children's Hospital
Margaret A HojloTommy Fuss Center for Neuropsychiatric Disease Research, Boston Children's Hospital
Sampath ChennuriBoston Children's Hospital
Nitin GujralBoston Children's Hospital
Heather L PatersonBoston Children's Hospital
Heather L PatersonThe Manton Center for Orphan Disease Research, Boston Children's Hospital
Kent ShefchekOregon State University
Kent ShefchekOregon State University
Casie A GenettiBoston Children's Hospital
Casie A GenettiThe Manton Center for Orphan Disease Research, Boston Children's Hospital
Emily L CohnBoston Children's Hospital
Kara SewalkBoston Children's Hospital
Emily A GarveyBoston Children's Hospital
Emily A GarveyTommy Fuss Center for Neuropsychiatric Disease Research, Boston Children's Hospital
Elizabeth D ButtermoreBoston Children's Hospital
Nickesha C AndersonBoston Children's Hospital
Alan H BeggsBoston Children's Hospital
Alan H BeggsThe Manton Center for Orphan Disease Research, Boston Children's Hospital
Alan H BeggsHarvard Medical School
Pankaj B AgrawalBoston Children's Hospital
Pankaj B AgrawalThe Manton Center for Orphan Disease Research, Boston Children's Hospital
Pankaj B AgrawalHarvard Medical School
Pankaj B AgrawalBoston Children's Hospital and Harvard Medical School
John S BrownsteinBoston Children's Hospital
John S BrownsteinHarvard Medical School
Melissa A HaendelCenter for Health Artificial Intelligence, University of Colorado Anschutz
Melissa A HaendelCenter for Health Artificial Intelligence, University of Colorado Anschutz
Ingrid A HolmBoston Children's Hospital
Ingrid A HolmHarvard Medical School
Ingrid A HolmThe Manton Center for Orphan Disease Research, Boston Children's Hospital
Ingrid A HolmBoston Children's Hospital
Ingrid A HolmThe Manton Center for Orphan Disease Research, Boston Children's Hospital
Ingrid A HolmHarvard Medical School
Joseph Gonzalez-HeydrichThe Manton Center for Orphan Disease Research, Boston Children's Hospital
Joseph Gonzalez-HeydrichBoston Children's Hospital
Joseph Gonzalez-HeydrichTommy Fuss Center for Neuropsychiatric Disease Research, Boston Children's Hospital
Joseph Gonzalez-HeydrichHarvard Medical School
Catherine A BrownsteinBoston Children's Hospital
Catherine A BrownsteinThe Manton Center for Orphan Disease Research, Boston Children's Hospital
Catherine A BrownsteinTommy Fuss Center for Neuropsychiatric Disease Research, Boston Children's Hospital
Catherine A BrownsteinHarvard Medical School
Catherine A BrownsteinBoston Children's Hospital
Catherine A BrownsteinThe Manton Center for Orphan Disease Research, Boston Children's Hospital
Catherine A BrownsteinTommy Fuss Center for Neuropsychiatric Disease Research, Boston Children's Hospital
Catherine A BrownsteinHarvard Medical School
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