# Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy

**Type:** Papers  
**Canonical URL:** https://scholariq.org/papers/exome-sequence-analysis-suggests-that-genetic-burden-contributes-to-phenotypic/

## Facts

| Field | Value |
| --- | --- |
| Author Names | Claudia Gonzaga‐Jauregui,Tamar Harel,Tomasz Gambin,Maria Kousi,Laurie B. Griffin,Ludmila Francescatto,Burçak Özeş,Ender Karaca,Shalini N. Jhangiani,Matthew N. Bainbridge,Kim Lawson,Davut Pehli̇van,Yuji Okamoto,Marjorie Withers,Pedro Mancías,Anne Slavotinek,Pamela J. Reitnauer,Meryem Tuba Goksungur,Michael E. Shy,Thomas O. Crawford,Michel Koenig,Jason R. Willer,Brittany N. Flores,Igor Pediaditrakis,Önder Us,Wojciech Wiszniewski,Yeşim Parman,Anthony Antonellis,Donna M. Muzny,Nicholas Katsanis,Esra Battaloglu,Eric Boerwinkle,Richard A. Gibbs,James R. Lupski |
| Citations | 249 |
| DOI | 10.1016/j.celrep.2015.07.023 |
| Fields | Neuroscience |
| Open Access | true |
| OA Status | gold |
| OA URL | http://www.cell.com/article/S2211124715007639/pdf |
| OpenAlex ID | https://openalex.org/W1654401488 |
| PMID | 26257172 |
| Type | article |
| Year | 2015 |

## Paper authors

- [Davut Pehli̇van](https://scholariq.org/researchers/davut-pehlivan/)

## Paper primary topic

- [Hereditary Neurological Disorders](https://scholariq.org/topics/hereditary-neurological-disorders/)

## Paper topics

- [Hereditary Neurological Disorders](https://scholariq.org/topics/hereditary-neurological-disorders/)
- [Neurological diseases and metabolism](https://scholariq.org/topics/neurological-diseases-and-metabolism/)
- [Genetic Neurodegenerative Diseases](https://scholariq.org/topics/genetic-neurodegenerative-diseases/)

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Source: ScholarIQ — public research metadata, principally OpenAlex. See https://scholariq.org/sources/ for provenance and https://scholariq.org/methodology/ for what these figures mean.