# Insights into genetics, human biology and disease gleaned from family based genomic studies

**Type:** Papers  
**Canonical URL:** https://scholariq.org/papers/insights-into-genetics-human-biology-and-disease-gleaned-from-family-based/

## Facts

| Field | Value |
| --- | --- |
| Author Names | Jennifer E. Posey,Anne O’Donnell‐Luria,Jessica X. Chong,Tamar Harel,Shalini N. Jhangiani,Zeynep H. Coban Akdemir,Steven Buyske,Davut Pehli̇van,Claudia M.B. Carvalho,Samantha Baxter,Nara Sobreira,Pengfei Liu,Nan Wu,Jill A. Rosenfeld,Sushant Kumar,Dimitri Avramopoulos,Janson J. White,Kimberly F. Doheny,P. Dane Witmer,Corinne D. Boehm,V. Reid Sutton,Donna M. Muzny,Eric Boerwinkle,Murat Günel,Deborah A. Nickerson,Shrikant Mane,Daniel G. MacArthur,Richard A. Gibbs,Ada Hamosh,Richard P. Lifton,Tara C. Matise,Heidi L. Rehm,Mark Gerstein,Michael J. Bamshad,David Valle,James R. Lupski |
| Citations | 215 |
| DOI | 10.1038/s41436-018-0408-7 |
| Fields | Biochemistry, Genetics and Molecular Biology |
| Open Access | true |
| OA Status | bronze |
| OA URL | https://www.nature.com/articles/s41436-018-0408-7.pdf |
| OpenAlex ID | https://openalex.org/W2911161668 |
| PMID | 30655598 |
| Type | article |
| Year | 2019 |

## Paper authors

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

## Paper primary topic

- [Genomics and Rare Diseases](https://scholariq.org/topics/genomics-and-rare-diseases/)

## Paper topics

- [Genomics and Rare Diseases](https://scholariq.org/topics/genomics-and-rare-diseases/)
- [Genomic variations and chromosomal abnormalities](https://scholariq.org/topics/genomic-variations-and-chromosomal-abnormalities/)
- [Cancer Genomics and Diagnostics](https://scholariq.org/topics/cancer-genomics-and-diagnostics/)

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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.