# Mutations in <i>RSPH1</i> Cause Primary Ciliary Dyskinesia with a Unique Clinical and Ciliary Phenotype

**Type:** Papers  
**Canonical URL:** https://scholariq.org/papers/mutations-in-i-rsph1-i-cause-primary-ciliary-dyskinesia-with-a-unique-clinical/

## Facts

| Field | Value |
| --- | --- |
| Author Names | Michael R. Knowles,Lawrence E. Ostrowski,Margaret W. Leigh,Patrick R. Sears,Stephanie D. Davis,Whitney Wolf,Milan J. Hazucha,Johnny L. Carson,Kenneth N. Olivier,Scott D. Sagel,Margaret Rosenfeld,Thomas W. Ferkol,Sharon Dell,Carlos Milla,Scott H. Randell,Weining Yin,Aruna Sannuti,Hilda Metjian,Peadar G. Noone,Peter J. Noone,Christina A. Olson,Michael V. Patrone,Hong Dang,Hye Seung Lee,Toby W. Hurd,Heon Yung Gee,Edgar A. Otto,Jan Halbritter,Stefan Kohl,Martin Kircher,Jeffrey P. Krischer,Michael J. Bamshad,Deborah A. Nickerson,Friedhelm Hildebrandt,Jay Shendure,Maimoona A. Zariwala |
| Citations | 230 |
| DOI | 10.1164/rccm.201311-2047oc |
| Fields | Medicine |
| Open Access | false |
| OA Status | closed |
| OpenAlex ID | https://openalex.org/W2046119237 |
| PMID | 24568568 |
| Type | article |
| Year | 2014 |

## Paper authors

- [Jan Halbritter](https://scholariq.org/researchers/jan-halbritter/)

## Paper primary topic

- [Cystic Fibrosis Research Advances](https://scholariq.org/topics/cystic-fibrosis-research-advances/)

## Paper topics

- [Cystic Fibrosis Research Advances](https://scholariq.org/topics/cystic-fibrosis-research-advances/)
- [Neonatal Respiratory Health Research](https://scholariq.org/topics/neonatal-respiratory-health-research/)
- [Tracheal and airway disorders](https://scholariq.org/topics/tracheal-and-airway-disorders/)

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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.