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Mellisa Dixon

Mutations in Radial Spoke Head Protein Genes RSPH9 and RSPH4A Cause Primary Ciliary Dyskinesia with Central-Microtubular-Pair Abnormalities
2009 · Victoria H. Castleman, Leila Romio, et al. · The American Journal of Human Genetics · 355
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X-linked primary ciliary dyskinesia due to mutations in the cytoplasmic axonemal dynein assembly factor PIH1D3
2017 · Chiara Olcese, Mitali P. Patel, et al. · Nature Communications · 148
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Accuracy of Immunofluorescence in the Diagnosis of Primary Ciliary Dyskinesia
2017 · Amelia Shoemark, Emily Frost, et al. · American Journal of Respiratory and Critical Care Medicine · 133
Mutations in Outer Dynein Arm Heavy Chain DNAH9 Cause Motile Cilia Defects and Situs Inversus
2018 · Mahmoud R. Fassad, Amelia Shoemark, et al. · The American Journal of Human Genetics · 130
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Clinical utility of NGS diagnosis and disease stratification in a multiethnic primary ciliary dyskinesia cohort
2019 · Mahmoud R. Fassad, Mitali P. Patel, et al. · Journal of Medical Genetics · 90
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
2014 · Alexandros Onoufriadis, Amelia Shoemark, et al. · Human Molecular Genetics · 90
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High prevalence of CCDC103 p.His154Pro mutation causing primary ciliary dyskinesia disrupts protein oligomerisation and is associated with normal diagnostic investigations
2017 · Amelia Shoemark, Eduardo Moya, et al. · Thorax · 88
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Risk factors for situs defects and congenital heart disease in primary ciliary dyskinesia
2018 · Sunayna Best, Amelia Shoemark, et al. · Thorax · 80
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C11orf70 Mutations Disrupting the Intraflagellar Transport-Dependent Assembly of Multiple Axonemal Dyneins Cause Primary Ciliary Dyskinesia
2018 · Mahmoud R. Fassad, Amelia Shoemark, et al. · The American Journal of Human Genetics · 70
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Primary ciliary dyskinesia with normal ultrastructure: three-dimensional tomography detects absence of DNAH11
2018 · Amelia Shoemark, Thomas Burgoyne, et al. · European Respiratory Journal · 59
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Bardet Biedl Syndrome
2014 · Amelia Shoemark, Mellisa Dixon, et al. · CHEST Journal · 29
Characterizing the ultrastructure of primary ciliary dyskinesia transposition defect using electron tomography
2014 · Thomas Burgoyne, Amy Lewis, et al. · Cytoskeleton · 28
Secondary defects detected by transmission electron microscopy in primary ciliary dyskinesia diagnostics
2017 · Mellisa Dixon, Amelia Shoemark · Ultrastructural Pathology · 23
Generation of a Three-Dimensional Ultrastructural Model of Human Respiratory Cilia
2012 · Thomas Burgoyne, Mellisa Dixon, et al. · American Journal of Respiratory Cell and Molecular Biology · 22
Use of electron tomography to confirm the diagnosis of primary ciliary dyskinesia
2017 · Amelia Shoemark, Thomas Burgoyne, et al. · 4
A high prevalence CCDC103 p.His154Pro mutation causing primary ciliary dyskinesia is associated with normal diagnostic investigations
2017 · Amelia Shoemark, Eduardo Moya, et al. · 3
C11orf70 mutations causing primary ciliary dyskinesia disrupt a conserved step in the intraflagellar transport-dependent assembly of multiple axonemal dyneins
2017 · Mahmoud R. Fassad, Amelia Shoemark, et al. · bioRxiv (Cold Spring Harbor Laboratory) · 1
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The Study Of Primary Ciliary Dyskinesia In Difficult Cases Using Electron Tomography
2010 · Thomas Burgoyne, Mellisa Dixon, et al. · 1
Heterotaxy Is Associated with Previously Unrecognised Ciliary Defects Independent of Primary Ciliary Dyskinesia
2026 · Laura Venditto, Mathieu Bottier, et al. · medRxiv
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Multimodal diagnostic evaluation in PCD patients without genetic confirmation
2025 · Rhiannon Mclellan, Mellisa Dixon, et al.
Accuracy of immunofluorescence testing in the diagnosis of Primary Ciliary Dyskinesia (PCD): a six-year review at a specialist referral center
2025 · Mathieu Bottier, Mellisa Dixon, et al.
Motile cilia structure and function in patients with mutations in the outer dynein arm heavy chain DNAH9
2018 · Amelia Shoemark, Mahmoud R Fassad, et al.
A Comparison Between Chlamydomonas Flagella And Human Cilia By Electron Tomography
2010 · Thomas Burgoyne, Mellisa Dixon, et al.
Works count: 24
Citation count: 1,354
H-index: 14
I10-index: 14
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