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

Journals

  1. Fidan H, Kerem G, Haliloğlu G, Ütine G, Kiper P. Evaluation of a girl with 16p13.11 microduplication syndrome according to the International Classification of Functioning, Disability and Health Perspectives. Sanamed 2022;17(3):189 View
  2. Sun Y, Li T, Qian X. Biological Role of Nodal Modulator: A Comprehensive Review of the Last Two Decades. DNA and Cell Biology 2022;41(4):336 View
  3. Engwerda A, Frentz B, Rraku E, de Souza N, Swertz M, Plantinga M, Kerstjens-Frederikse W, Ranchor A, van Ravenswaaij-Arts C. Parent-reported phenotype data on chromosome 6 aberrations collected via an online questionnaire: data consistency and data availability. Orphanet Journal of Rare Diseases 2023;18(1) View