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

Precision Medicine (159) Precision Medicine and Genetics (80)

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 (5) 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
  4. Xavier R, Bian W, Alshammari F, Harner M, Dietterich T, Lichtenstein M, Stowe R, Farrell M, Szatkiewicz J, Shaughnessy R, Berg J, Sullivan P, Josiassen R. Delineating lifetime multimorbidity associated with 16p13.11 duplication: A literature review, meta-analysis, and case study. Progress in Neuro-Psychopharmacology and Biological Psychiatry 2025;141:111462 View
  5. Shefchek K, Ziniel S, McMurry J, Brownstein C, Brownstein J, Riggs E, Might M, Smedley D, Clugston A, Beggs A, Paterson H, Robinson P, Vasilevsky N, Holm I, Haendel M. Development of self-phenotyping tools to empower patients and improve diagnostics. eBioMedicine 2025;121:105965 View