1.
Cystic Fibrosis Disease Modifiers: Complex Genetics Defines the Phenotypic Diversity in a Monogenic Disease
by O'Neal, Wanda K
Annual review of genomics and human genetics, 2018-08-31, Vol.19 (1), p.201-222
2.
Identification of genetic variants in CFAP221 as a cause of primary ciliary dyskinesia
by Bustamante-Marin, Ximena M.
Journal of human genetics, 2019-10-21, Vol.65 (2), p.175-180
3.
Genetic defects in ciliary structure and function
by Zariwala, Maimoona A
Annual review of physiology, 2007, Vol.69 (1), p.423-450
4.
Clinical and genetic aspects of primary ciliary dyskinesia/Kartagener syndrome
by Leigh, Margaret W
Genetics in medicine, 2009-07, Vol.11 (7), p.473-487
5.
Mutations of DNAH11 in patients with primary ciliary dyskinesia with normal ciliary ultrastructure
by Knowles, Michael R
Thorax, 2012-05, Vol.67 (5), p.433-441
6.
Deletions and Point Mutations of LRRC50 Cause Primary Ciliary Dyskinesia Due to Dynein Arm Defects
by Loges, Niki Tomas
American journal of human genetics, 2009-12-11, Vol.85 (6), p.883-889
7.
Gene Expression in Transformed Lymphocytes Reveals Variation in Endomembrane and HLA Pathways Modifying Cystic Fibrosis Pulmonary Phenotypes
by O’Neal, Wanda K
American journal of human genetics, 2015-02-05, Vol.96 (2), p.318-328
8.
Author Correction: A human ciliopathy reveals essential functions for NEK10 in airway mucociliary clearance
by Chivukula, Raghu R
Nature medicine, 2020-02, Vol.26 (2), p.300-300
9.
A human ciliopathy reveals essential functions for NEK10 in airway mucociliary clearance
by Chivukula, Raghu R
Nature medicine, 2020-02, Vol.26 (2), p.244-251
10.
Quantification of Population Structure Using Correlated SNPs by Shrinkage Principal Components
by Zou, Fei
Human heredity, 2010-01-01, Vol.70 (1), p.9-22
11.
Next generation massively parallel sequencing of targeted exomes to identify genetic mutations in primary ciliary dyskinesia: implications for application to clinical testing
by Berg, Jonathan S
Genetics in medicine, 2011-03, Vol.13 (3), p.218-229
12.
Cutting edge genetic studies in primary ciliary dyskinesia
by Knowles, Michael R
Thorax, 2012-05, Vol.67 (5), p.464-464
13.
ARMC4 Mutations Cause Primary Ciliary Dyskinesia with Randomization of Left/Right Body Asymmetry
by Hjeij, Rim
American journal of human genetics, 2013-08-08, Vol.93 (2), p.357-367
14.
Whole-Exome Capture and Sequencing Identifies HEATR2 Mutation as a Cause of Primary Ciliary Dyskinesia
by HORANI, Amjad
American journal of human genetics, 2012, Vol.91 (4), p.685-693
15.
Exome Sequencing Identifies Mutations in CCDC114 as a Cause of Primary Ciliary Dyskinesia
by Knowles, Michael R
American journal of human genetics, 2013-01-10, Vol.92 (1), p.99-106
16.
A Heterozygous Mutation Disrupting the SPAG16 Gene Results in Biochemical Instability of Central Apparatus Components of the Human Sperm Axoneme
by ZHIBING ZHANG
Biology of reproduction, 2007-11-01, Vol.77 (5), p.864-871
17.
Threatened and endangered species geography: characteristics of hot spots in the conterminous United States
by Flather, Curtis H
Bioscience, 1998-05-01, Vol.48 (5), p.365
18.
Mutations of DNAH11 in Primary Ciliary Dyskinesia Patients with Normal Ciliary Ultrastructure
by Knowles, Michael R Michael R
Thorax, 2011-12-18, Vol.67 (5), p.433-441
19.
Calcium stone lithoptysis in primary ciliary dyskinesia
by Kennedy, Marcus P
Respiratory medicine, 2006, Vol.101 (1), p.76-83
20.
The I148T CFTR allele occurs on multiple haplotypes: A complex allele is associated with cystic fibrosis
by Rohlfs, Elizabeth M.
Genetics in medicine, 2002-09, Vol.4 (5), p.319-323
