Phenotypic Expansion is the systematic broadening of the recognized clinical manifestations associated with a specific genetic disorder, distinguished by the identification of new signs or symptoms that extend the established disease phenotype beyond its previously defined boundaries.
103
Publications
6.4K
Citations
1.2K
Authors
476
Institutions
Publications per year
2017–2026
40
Parents
Publications
103
A Retrotransposon-Mediated Gene Duplication Underlies Morphological Variation of Tomato Fruit
Han Xiao, Ning Jiang, Erin Schaffner et al. · Science · 2008 · 649 citations
Phenotypic expansion illuminates multilocus pathogenic variation
Ender Karaca, Jennifer E. Posey, Zeynep Coban‐Akdemir et al. · Genetics in Medicine · 2018 · 152 citations · Full text
1–5 of 103
Authors
1.2K
- JR
7
h-index
- JE
5
h-index
- ZC
5
h-index
- RA
5
h-index
- SN
5
h-index
1–5 of 1.2K
Institutions
476
Baylor College of Medicine
Houston, United States
11 h-index
112 publications
9.3K citations
Centre National de la Recherche Scientifique
Paris, France
7 h-index
16 publications
1K citations
Texas Children's Hospital
Houston, United States
7 h-index
25 publications
1.8K citations
Baylor Genetics
Houston, United States
7 h-index
54 publications
5K citations
National Institutes of Health
Bethesda, United States
7 h-index
72 publications
4.8K citations
Harvard University
Cambridge, United States
5 h-index
37 publications
1.9K citations
University of Oxford
Oxford, United Kingdom
5 h-index
13 publications
821 citations
Inserm
Paris, France
4 h-index
14 publications
494 citations
1–8 of 476
Venues
- American Journal of Medical Genetics Part A
9 publications · 430 citations
9
h-index
- Proceedings of the National Academy of Sciences
PNAS · 3 publications · 612 citations
3
h-index
- The Journal of Immunology
JI · 3 publications · 145 citations
3
h-index
- Science
2 publications · 743 citations
2
h-index
- European Journal of Human Genetics
EJHG · 2 publications · 63 citations
2
h-index
1–5