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Recessive HYDIN Mutations Cause Primary Ciliary Dyskinesia without Randomization of Left-Right Body Asymmetry

American journal of human genetics, 2012-10, Vol.91 (4), p.672-684

2012

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Axonemal structures reveal mechanoregulatory and disease mechanisms

Nature (London), 2023-06, Vol.618 (7965), p.625-633

2023

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Diagnosis and management of primary ciliary dyskinesia

Archives of Disease in Childhood, 2014-09, Vol.99 (9), p.850-856

2014

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Primary ciliary dyskinesia: a big data genomics approach

The lancet respiratory medicine, 2022-05, Vol.10 (5), p.423-425

2022

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

American journal of human genetics, 2013-01, Vol.92 (1), p.88-98

2013

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Topological data analysis reveals genotype-phenotype relationships in primary ciliary dyskinesia

The European respiratory journal, 2021-08, Vol.58 (2), p.2002359

2021

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

American journal of human genetics, 2018-12, Vol.103 (6), p.984-994

2018

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'Don't let it hold you back' - The experience of transition to adulthood in young people with primary ciliary dyskinesia: An interpretative phenomenological analysis

Journal of health psychology, 2024-01, Vol.29 (9), p.13591053231223912-1045

2024

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

American journal of human genetics, 2019-11, Vol.105 (5), p.1030-1039

2019

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Accuracy of Immunofluorescence in the Diagnosis of Primary Ciliary Dyskinesia

American journal of respiratory and critical care medicine, 2017-07, Vol.196 (1), p.94-101

2017

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13 ‘Don’t let it hold you back’: the experience of transition to adulthood in young people with primary ciliary dyskinesia

BMJ open, 2024-03, Vol.14 (Suppl 1), p.A5-A5

2024

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MCIDAS mutations result in a mucociliary clearance disorder with reduced generation of multiple motile cilia

Nature communications, 2014-07, Vol.5 (1), p.4418-4418, Article 4418

2014

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Defective airway intraflagellar transport underlies a combined motile and primary ciliopathy syndrome caused by IFT74 mutations

Human molecular genetics, 2023-10, Vol.32 (21), p.3090-3104

2023

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PCD Detect: enhancing ciliary features through image averaging and classification

American journal of physiology. Lung cellular and molecular physiology, 2020-12, Vol.319 (6), p.L1048-L1060

2020

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

American journal of human genetics, 2018-05, Vol.102 (5), p.956-972

2018

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Higher throughput drug screening for rare respiratory diseases: readthrough therapy in primary ciliary dyskinesia

The European respiratory journal, 2021-10, Vol.58 (4), p.2000455

2021

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Motile cilia defects in diseases other than primary ciliary dyskinesia: The contemporary diagnostic and research role for transmission electron microscopy

Ultrastructural pathology, 2017-11, Vol.41 (6), p.415-427

2017

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Opportunities and Challenges for Molecular Understanding of Ciliopathies-The 100,000 Genomes Project

Frontiers in genetics, 2019-03, Vol.10, p.127

2019

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Targeted NGS gene panel identifies mutations in RSPH1 causing primary ciliary dyskinesia and a common mechanism for ciliary central pair agenesis due to radial spoke defects

Human molecular genetics, 2014-07, Vol.23 (13), p.3362-3374

2014

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

Clinical genetics, 2020-03, Vol.97 (3), p.509-515

2020

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Genome sequencing reveals underdiagnosis of primary ciliary dyskinesia in bronchiectasis

The European respiratory journal, 2022-11, Vol.60 (5), p.2200176

2022

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Combined approaches, including long-read sequencing, address the diagnostic challenge of HYDIN in primary ciliary dyskinesia

European journal of human genetics : EJHG, 2024-04

2024

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CFAP300 mutation causing primary ciliary dyskinesia in Finland

Frontiers in genetics, 2022-09, Vol.13, p.985227-985227

2022

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Glial cells are functionally impaired in juvenile neuronal ceroid lipofuscinosis and detrimental to neurons

Acta neuropathologica communications, 2017-10, Vol.5 (1), p.74-74, Article 74

2017

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Recessive HYDIN Mutations Cause Primary Ciliary Dyskinesia without Randomization of Left-Right Body Asymmetry

Axonemal structures reveal mechanoregulatory and disease mechanisms

Diagnosis and management of primary ciliary dyskinesia

Primary ciliary dyskinesia: a big data genomics approach

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

Topological data analysis reveals genotype-phenotype relationships in primary ciliary dyskinesia

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

'Don't let it hold you back' - The experience of transition to adulthood in young people with primary ciliary dyskinesia: An interpretative phenomenological analysis

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

Accuracy of Immunofluorescence in the Diagnosis of Primary Ciliary Dyskinesia

13 ‘Don’t let it hold you back’: the experience of transition to adulthood in young people with primary ciliary dyskinesia

MCIDAS mutations result in a mucociliary clearance disorder with reduced generation of multiple motile cilia

Defective airway intraflagellar transport underlies a combined motile and primary ciliopathy syndrome caused by IFT74 mutations

PCD Detect: enhancing ciliary features through image averaging and classification

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

Higher throughput drug screening for rare respiratory diseases: readthrough therapy in primary ciliary dyskinesia

Motile cilia defects in diseases other than primary ciliary dyskinesia: The contemporary diagnostic and research role for transmission electron microscopy

Opportunities and Challenges for Molecular Understanding of Ciliopathies-The 100,000 Genomes Project

Targeted NGS gene panel identifies mutations in RSPH1 causing primary ciliary dyskinesia and a common mechanism for ciliary central pair agenesis due to radial spoke defects

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

Genome sequencing reveals underdiagnosis of primary ciliary dyskinesia in bronchiectasis

High prevalence of CCDC103 p.His154Pro mutation causing primary ciliary dyskinesia disrupts protein oligomerisation and is associated with normal diagnostic investigations

Combined approaches, including long-read sequencing, address the diagnostic challenge of HYDIN in primary ciliary dyskinesia

CFAP300 mutation causing primary ciliary dyskinesia in Finland

Glial cells are functionally impaired in juvenile neuronal ceroid lipofuscinosis and detrimental to neurons

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