Identification of a frame shift mutation in the CCDC151 gene in a Han-Chinese family with Kartagener syndrome

Bioinformatics and Computational Tools for Next-Generation Sequencing Analysis in Clinical Genetics

(2020) Rute Pereira et al.   Journal of Clinical Medicine

Characterization of CCDC103 expression profiles: further insights in primary ciliary dyskinesia and in human reproduction

(2019) R. Pereira et al.   JOURNAL OF ASSISTED REPRODUCTION AND GENETICS

Truncating mutations in exons 20 and 21 of OFD1 can cause primary ciliary dyskinesia without associated syndromic symptoms

(2019) Zuzanna Bukowy-Bieryllo et al.   JOURNAL OF MEDICAL GENETICS

Clinical and Genetic Analysis of Children with Kartagener Syndrome

(2019) Rute Pereira et al.   Cells

De Novo Mutations in FOXJ1 Result in a Motile Ciliopathy with Hydrocephalus and Randomization of Left/Right Body Asymmetry

(2019) Julia Wallmeier et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Unveiling the genetic etiology of primary ciliary dyskinesia: When standard genetic approach is not enough

(2019) Rute Pereira et al.   Advances in Medical Sciences

Mutations in C11orf70 Cause Primary Ciliary Dyskinesia with Randomization of Left/Right Body Asymmetry Due to Defects of Outer and Inner Dynein Arms

(2018) Inga M. Höben et al.   AMERICAN JOURNAL OF HUMAN GENETICS

C11orf70 Mutations Disrupting the Intraflagellar Transport-Dependent Assembly of Multiple Axonemal Dyneins Cause Primary Ciliary Dyskinesia

(2018) Mahmoud R. Fassad et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Identification of a Novel Keratin 9 Missense Mutation in a Chinese Family with Epidermolytic Palmoplantar Keratoderma

(2018) Heng Xiao et al.   CELLULAR PHYSIOLOGY AND BIOCHEMISTRY

Advances in the Genetics of Primary Ciliary Dyskinesia

(2018) Amjad Horani et al.   CHEST

PINK1 p.K520RfsX3 mutation identified in a Chinese family with early-onset Parkinson’s disease

(2018) Peng Wang et al.   NEUROSCIENCE LETTERS

Whole-Exome Sequencing Identified a Novel Compound Heterozygous Mutation of LRRC6 in a Chinese Primary Ciliary Dyskinesia Patient

(2018) Lv Liu et al.   Biomed Research International

Novel and Recurring Disease-Causing NF1 Variants in Two Chinese Families with Neurofibromatosis Type 1

(2018) Heng Xiao et al.   JOURNAL OF MOLECULAR NEUROSCIENCE

Mutations in Outer Dynein Arm Heavy Chain DNAH9 Cause Motile Cilia Defects and Situs Inversus

(2018) Mahmoud R. Fassad et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Biallelic Mutations in LRRC56, Encoding a Protein Associated with Intraflagellar Transport, Cause Mucociliary Clearance and Laterality Defects

(2018) Serge Bonnefoy et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Whole-exome sequencing identifies a novel CCDC151 mutation, c.325G>T (p.E109X), in a patient with primary ciliary dyskinesia and situs inversus

(2018) Weizhi Zhang et al.   JOURNAL OF HUMAN GENETICS

Diagnosis of Cystic Fibrosis: Consensus Guidelines from the Cystic Fibrosis Foundation

(2017) Philip M. Farrell et al.   JOURNAL OF PEDIATRICS

A homozygous MYO7A mutation associated to Usher syndrome and unilateral auditory neuropathy spectrum disorder

(2017) Hong Xia et al.   Molecular Medicine Reports

A reference human genome dataset of the BGISEQ-500 sequencer

(2017) Jie Huang et al.   GigaScience

TTC25 Deficiency Results in Defects of the Outer Dynein Arm Docking Machinery and Primary Ciliary Dyskinesia with Left-Right Body Asymmetry Randomization

(2016) Julia Wallmeier et al.   AMERICAN JOURNAL OF HUMAN GENETICS

European Respiratory Society guidelines for the diagnosis of primary ciliary dyskinesia

(2016) Jane S. Lucas et al.   EUROPEAN RESPIRATORY JOURNAL

Clinical and genetic analysis of a family with Kartagener syndrome caused by novel DNAH5 mutations

(2016) Xuan Xu et al.   JOURNAL OF ASSISTED REPRODUCTION AND GENETICS

Major regulatory mechanisms involved in sperm motility

(2015) Rute Pereira et al.   ASIAN JOURNAL OF ANDROLOGY

Variation in DNAH1 may contribute to primary ciliary dyskinesia

(2015) Faiqa Imtiaz et al.   BMC Medical Genetics

Kartagener syndrome

(2015) Suat-Jin Lu et al.   Internal and Emergency Medicine

Mutation analysis in patients with total sperm immotility

(2015) Rute Pereira et al.   JOURNAL OF ASSISTED REPRODUCTION AND GENETICS

Genetic analysis of the RAB39B gene in Chinese Han patients with Parkinson's disease

(2015) Lamei Yuan et al.   NEUROBIOLOGY OF AGING

Ultrastructural analysis of five patients with total sperm immotility

(2015) Mário Sousa et al.   ZYGOTE

Genetic basis of human left–right asymmetry disorders

(2015) Hao Deng et al.   EXPERT REVIEWS IN MOLECULAR MEDICINE

CCDC151 Mutations Cause Primary Ciliary Dyskinesia by Disruption of the Outer Dynein Arm Docking Complex Formation

(2014) Rim Hjeij et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Nonsense Mutation in Coiled-Coil Domain Containing 151 Gene (CCDC151) Causes Primary Ciliary Dyskinesia

(2014) Muslim M. Alsaadi et al.   HUMAN MUTATION

Identification of a Premature Termination Mutation in the Proline-Rich Transmembrane Protein 2 Gene in a Chinese Family with Febrile Seizures

(2014) Wen Zheng et al.   MOLECULAR NEUROBIOLOGY

Zebrafish Ciliopathy Screen Plus Human Mutational Analysis Identifies C21orf59 and CCDC65 Defects as Causing Primary Ciliary Dyskinesia

(2013) Christina Austin-Tse et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mutations in SPAG1 Cause Primary Ciliary Dyskinesia Associated with Defective Outer and Inner Dynein Arms

(2013) Michael R. Knowles et al.   AMERICAN JOURNAL OF HUMAN GENETICS

ARMC4 Mutations Cause Primary Ciliary Dyskinesia with Randomization of Left/Right Body Asymmetry

(2013) Rim Hjeij et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mutations in ZMYND10, a Gene Essential for Proper Axonemal Assembly of Inner and Outer Dynein Arms in Humans and Flies, Cause Primary Ciliary Dyskinesia

(2013) Daniel J. Moore et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The coiled-coil domain containing protein CCDC151 is required for the function of IFT-dependent motile cilia in animals

(2013) Julie Jerber et al.   HUMAN MOLECULAR GENETICS

Combined exome and whole-genome sequencing identifies mutations inARMC4as a cause of primary ciliary dyskinesia with defects in the outer dynein arm

(2013) Alexandros Onoufriadis et al.   JOURNAL OF MEDICAL GENETICS

Chlamydomonas ODA10 is a conserved axonemal protein that plays a unique role in outer dynein arm assembly

(2013) Anudariya B. Dean et al.   MOLECULAR BIOLOGY OF THE CELL

DYX1C1 is required for axonemal dynein assembly and ciliary motility

(2013) Aarti Tarkar et al.   NATURE GENETICS

Whole-Exome Capture and Sequencing Identifies HEATR2 Mutation as a Cause of Primary Ciliary Dyskinesia

(2012) Amjad Horani et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Loss-of-Function Mutations in LRRC6 , a Gene Essential for Proper Axonemal Assembly of Inner and Outer Dynein Arms, Cause Primary Ciliary Dyskinesia

(2012) Esther Kott et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Splice-Site Mutations in the Axonemal Outer Dynein Arm Docking Complex Gene CCDC114 Cause Primary Ciliary Dyskinesia

(2012) Alexandros Onoufriadis et al.   AMERICAN JOURNAL OF HUMAN GENETICS

CCDC103 mutations cause primary ciliary dyskinesia by disrupting assembly of ciliary dynein arms

(2012) Jennifer R Panizzi et al.   NATURE GENETICS

Mutations in axonemal dynein assembly factor DNAAF3 cause primary ciliary dyskinesia

(2012) Hannah M Mitchison et al.   NATURE GENETICS

Primary Ciliary Dyskinesia Caused by Homozygous Mutation in DNAL1, Encoding Dynein Light Chain 1

(2011) Masha Mazor et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Twenty-year review of quantitative transmission electron microscopy for the diagnosis of primary ciliary dyskinesia

(2011) A Shoemark et al.   JOURNAL OF CLINICAL PATHOLOGY

Mutations ofDNAH11in patients with primary ciliary dyskinesia with normal ciliary ultrastructure

(2011) Michael R Knowles et al.   THORAX

Fast and accurate long-read alignment with Burrows–Wheeler transform

(2010) Heng Li et al.   BIOINFORMATICS

The coiled-coil domain containing protein CCDC40 is essential for motile cilia function and left-right axis formation

(2010) Anita Becker-Heck et al.   NATURE GENETICS

CCDC39 is required for assembly of inner dynein arms and the dynein regulatory complex and for normal ciliary motility in humans and dogs

(2010) Anne-Christine Merveille et al.   NATURE GENETICS

Deletions and Point Mutations of LRRC50 Cause Primary Ciliary Dyskinesia Due to Dynein Arm Defects

(2009) Niki Tomas Loges et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Fast and accurate short read alignment with Burrows-Wheeler transform

(2009) H. Li et al.   BIOINFORMATICS

A 20-year experience of electron microscopy in the diagnosis of primary ciliary dyskinesia

(2009) J. F. Papon et al.   EUROPEAN RESPIRATORY JOURNAL

Aspiration pneumonia

(2009)   RESPIROLOGY

DNAI2 Mutations Cause Primary Ciliary Dyskinesia with Defects in the Outer Dynein Arm

(2008) Niki Tomas Loges et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Ktu/PF13 is required for cytoplasmic pre-assembly of axonemal dyneins

(2008) Heymut Omran et al.   NATURE