An exome-first approach to aid in the diagnosis of primary ciliary dyskinesia

A human ciliopathy reveals essential functions for NEK10 in airway mucociliary clearance

(2020) Raghu R. Chivukula et al.   NATURE MEDICINE

The centrosome protein AKNA regulates neurogenesis via microtubule organization

(2019) Germán Camargo Ortega et al.   NATURE

Lessons Learned from Large-Scale, First-Tier Clinical Exome Sequencing in a Highly Consanguineous Population

(2019) Dorota Monies et al.   AMERICAN JOURNAL OF HUMAN GENETICS

AKNA Frameshift Variant in Three Dogs with Recurrent Inflammatory Pulmonary Disease

(2019) Hug et al.   Genes

Primary ciliary dyskinesia gene contribution in Tunisia: Identification of a major Mediterranean allele

(2019) Rahma Mani et al.   HUMAN MUTATION

Identification of Pathogenic Mutations and Investigation of the NOTCH Pathway Activation in Kartagener Syndrome

(2019) Yongjian Yue et al.   Frontiers in Genetics

Clinical and Genetic Analysis of Children with Kartagener Syndrome

(2019) Rute Pereira et al.   Cells

Genotype and phenotype evaluation of patients with primary ciliary dyskinesia: First results from Turkey

(2019) Nagehan Emiralioğlu et al.   PEDIATRIC PULMONOLOGY

Clinical and genetic spectrum in 33 Egyptian families with suspected primary ciliary dyskinesia

(2019) Mahmoud R. Fassad et al.   CLINICAL GENETICS

Diagnosis of Primary Ciliary Dyskinesia. An Official American Thoracic Society Clinical Practice Guideline

(2018) Adam J. Shapiro et al.   AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE

Diagnostic yield of a targeted gene panel in primary ciliary dyskinesia patients

(2018) Tamara Paff et al.   HUMAN MUTATION

Strain-specific differences in brain gene expression in a hydrocephalic mouse model with motile cilia dysfunction

(2018) Casey W. McKenzie et al.   Scientific Reports

The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes

(2017) Dorota Monies et al.   HUMAN GENETICS

Primary Ciliary Dyskinesia: An Update on Clinical Aspects, Genetics, Diagnosis, and Future Treatment Strategies

(2017) Virginia Mirra et al.   Frontiers in Pediatrics

An effective combination of whole-exome sequencing and runs of homozygosity for the diagnosis of primary ciliary dyskinesia in consanguineous families

(2017) Ting Guo et al.   Scientific Reports

Clinical genomics can facilitate countrywide estimation of autosomal recessive disease burden

(2016) Mohamed Abouelhoda et al.   GENETICS IN MEDICINE

ANKS3 is mutated in a family with autosomal recessive laterality defect

(2016) Hanan E. Shamseldin et al.   HUMAN GENETICS

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

(2015) Sue Richards et al.   GENETICS IN MEDICINE

Whole-Exome Sequencing and Targeted Copy Number Analysis in Primary Ciliary Dyskinesia

(2015) Christian R. Marshall et al.   G3-Genes Genomes Genetics

Diagnosis and management of primary ciliary dyskinesia

(2014) J. S. Lucas et al.   ARCHIVES OF DISEASE IN CHILDHOOD

Laterality Defects Other Than Situs Inversus Totalis in Primary Ciliary Dyskinesia

(2014) Adam J Shapiro et al.   CHEST

New point mutation inGolga3causes multiple defects in spermatogenesis

(2013) L. F. Bentson et al.   Andrology

Autozygome maps dispensable DNA and reveals potential selective bias against nullizygosity

(2012) Hanif G. Khalak et al.   GENETICS IN MEDICINE

Coordinate activation of inflammatory gene networks, alveolar destruction and neonatal death in AKNA deficient mice

(2011) Wenbin Ma et al.   CELL RESEARCH