This paper is in the following e-collection/theme issue:

Precision Medicine (75) Precision Medicine and Genetics (48)

Published on in Vol 23, No 3 (2021): March

Preprints (earlier versions) of this paper are available at https://preprints.jmir.org/preprint/21023, first published .
Underrepresentation of Phenotypic Variability of 16p13.11 Microduplication Syndrome Assessed With an Online Self-Phenotyping Tool (Phenotypr): Cohort Study

Underrepresentation of Phenotypic Variability of 16p13.11 Microduplication Syndrome Assessed With an Online Self-Phenotyping Tool (Phenotypr): Cohort Study

Underrepresentation of Phenotypic Variability of 16p13.11 Microduplication Syndrome Assessed With an Online Self-Phenotyping Tool (Phenotypr): Cohort Study

Authors of this article:

Jianqiao Li1, 2 Author Orcid Image ;   Margaret A Hojlo3, 4 Author Orcid Image ;   Sampath Chennuri5 Author Orcid Image ;   Nitin Gujral5 Author Orcid Image ;   Heather L Paterson1, 2 Author Orcid Image ;   Kent A Shefchek6 Author Orcid Image ;   Casie A Genetti1, 2 Author Orcid Image ;   Emily L Cohn5 Author Orcid Image ;   Kara C Sewalk7 Author Orcid Image ;   Emily A Garvey3, 4 Author Orcid Image ;   Elizabeth D Buttermore8 Author Orcid Image ;   Nickesha C Anderson9 Author Orcid Image ;   Alan H Beggs1, 2, 10 Author Orcid Image ;   Pankaj B Agrawal1, 2, 10, 11 Author Orcid Image ;   John S Brownstein5, 10 Author Orcid Image ;   Melissa A Haendel12 Author Orcid Image ;   Ingrid A Holm1, 2, 10 Author Orcid Image ;   Joseph Gonzalez-Heydrich2, 3, 4, 13 Author Orcid Image ;   Catherine A Brownstein1, 2, 4, 10 Author Orcid Image
Article Authors Cited by (3) Tweetations (4) Metrics

Jianqiao Li   1, 2 * , MSc ;   Margaret A Hojlo   3, 4 * , BA ;   Sampath Chennuri   5 , MSc ;   Nitin Gujral   5 , MBA, MSc ;   Heather L Paterson   1, 2 , BSc ;   Kent A Shefchek   6 , MSc ;   Casie A Genetti   1, 2 , MSc ;   Emily L Cohn   5 , MPH ;   Kara C Sewalk   7 , MPH ;   Emily A Garvey   3, 4 , BA ;   Elizabeth D Buttermore   8 , PhD ;   Nickesha C Anderson   9 , PhD ;   Alan H Beggs   1, 2, 10 , PhD ;   Pankaj B Agrawal   1, 2, 10, 11 , MD, MMSc ;   John S Brownstein   5, 10 , PhD ;   Melissa A Haendel   12 , PhD ;   Ingrid A Holm   1, 2, 10 , MD, MPH ;   Joseph Gonzalez-Heydrich   2, 3, 4, 13 * , MD ;   Catherine A Brownstein   1, 2, 4, 10 * , MPH, PhD

1 Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, United States

2 The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA, United States

3 Department of Psychiatry and Behavioral Sciences, Boston Children's Hospital, Boston, MA, United States

4 Tommy Fuss Center for Neuropsychiatric Disease Research, Boston Children's Hospital, Boston, MA, United States

5 Innovation and Digital Health Accelerator, Boston Children’s Hospital, Boston, MA, United States

6 Department of Environmental and Molecular Toxicology, Oregon State University, Corvallis, OR, United States

7 Computational Epidemiology Group, Boston Children’s Hospital, Boston, MA, United States

8 Human Neuron Core, Translational Neuroscience Center, Boston Children’s Hospital, Boston, MA, United States

9 Department of Neurology, Boston Children’s Hospital, Boston, MA, United States

10 Department of Pediatrics, Harvard Medical School, Boston, MA, United States

11 Division of Newborn Medicine, Boston Children’s Hospital and Harvard Medical School, Boston, MA, United States

12 Center for Health Artificial Intelligence, University of Colorado Anschutz, Aurora, CO, United States

13 Department of Psychiatry, Harvard Medical School, Boston, MA, United States

*these authors contributed equally

Corresponding Author: