Qualitative research of Dup15q syndrome symptoms and impacts to inform disease concept models

Authors

Charlotte DiStefano (ORCID: https://orcid.org/0000-0003-1927-8590)
Tara L. Symonds (ORCID: https://orcid.org/0000-0001-9145-5753)
Lara Sams
Celia Goeldner
Shafali Jeste (ORCID: https://orcid.org/0000-0003-2955-6902)
Guy Calvert
Fiona McDougall
Siobhan Connor-Ahmad (ORCID: https://orcid.org/0000-0002-0748-7865)
Sophie L. Hughes
Eugénie Suter

Institutions

University of Southern California (US)
Roche (Switzerland) (CH)
Children's Hospital of Los Angeles (US)
Genentech
Roche (United Kingdom) (GB)
Dup15q Alliance (US)

Publication Details

Journal: Orphanet Journal of Rare Diseases
Published: 2026-09-29
DOI: https://doi.org/10.1186/s13023-026-04605-x
Primary Topic: Genomic variations and chromosomal abnormalities
Type: article
Field-Weighted Citation Impact: 0.00

Controls

|||

ALL TIME

JAN

FEB

MAR

APR

MAY

JUN

JUL

AUG

SEP

article

Qualitative research of Dup15q syndrome symptoms and impacts to inform disease concept models

Charlotte DiStefano, Tara L. Symonds, Lara Sams, Celia Goeldner et al.

Sep 29, 2026

Orphanet Journal of Rare Diseases

Genomic variations and chromosomal abnormalities

article

Qualitative research of Dup15q syndrome symptoms and impacts to inform disease concept models

Charlotte DiStefano, Tara L. Symonds, Lara Sams, Celia Goeldner, Shafali Jeste, Guy Calvert, Fiona McDougall, Siobhan Connor-Ahmad, Sophie L. Hughes, Eugénie Suter

September 29, 2026article en

Abstract

No abstract available for this paper.

Orphanet Journal of Rare Diseases

University of Southern California (US), Roche (Switzerland) (CH), Children's Hospital of Los Angeles (US), Genentech, Roche (United Kingdom) (GB), Dup15q Alliance (US)

Quality Education

Openalex Percentile: Top 12%

Genomic variations and chromosomal abnormalities

DOI Open Access PDF OpenAlex

AI Navigator

Ask Laika to Summarize, Analyze, and Connect papers live on the map.

Summarize Papers & Methodologies

Extract key findings, datasets, and comparative methods across publications.

Benchmark Rankings & Visual Analytics

Rank top research institutions, authors, funders, topics, and journals by Field-Weighted Citation Impact (FWCI) and paper volume with instant charts.

Connect Distant Disciplines

Bridge topological clusters on the map to find hidden collaborative intersections.

Qualitative research of Dup15q syndrome symptoms and impacts to inform disease concept models — Charlotte DiStefano, Tara L. Symonds, et al. · Orphanet Journal of Rare Diseases (2026) | TGRS Research Map | TGRS