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H. Mitchison · SciRah

Researcher profile · Semantic Scholar

H. Mitchison

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H. Mitchison — researcher profile on SciRah

h-index: 54
Works: 134
Citations: 9,842

Most-cited papers

The UK10K project identifies rare variants in health and disease
Klaudia Walter, Josine L. Min, Jie Huang, L. Crooks +238 more
2015Nature1,070 citations Open access
Semantic Scholar
Primary ciliary dyskinesia: current state of the art
A. Bush, R. Chodhari, N. Collins, F. Copeland +8 more
2007Archives of Disease in Childhood360 citations Open access
Semantic Scholar
Mutations in radial spoke head protein genes RSPH9 and RSPH4A cause primary ciliary dyskinesia with central-microtubular-pair abnormalities.
Victoria H. Castleman, L. Romio, R. Chodhari, R. Hirst +20 more
2009American Journal of Human Genetics341 citations Open access
Semantic Scholar
Recessive HYDIN mutations cause primary ciliary dyskinesia without randomization of left-right body asymmetry.
H. Olbrich, M. Schmidts, C. Werner, A. Onoufriadis +17 more
2012American Journal of Human Genetics296 citations Open access
Semantic Scholar
Diagnosis and management of primary ciliary dyskinesia
J. Lucas, A. Burgess, H. Mitchison, E. Moya +2 more
2014Archives of Disease in Childhood292 citations Open access
Semantic Scholar
Mutations in axonemal dynein assembly factor DNAAF3 cause primary ciliary dyskinesia
H. Mitchison, M. Schmidts, N. Loges, Judy Freshour +12 more
2012Nature Genetics282 citations Open access
Semantic Scholar
DYX1C1 is required for axonemal dynein assembly and ciliary motility
Aarti Tarkar, N. Loges, Christopher E. Slagle, Richard Francis +42 more
2013Nature Genetics277 citations Open access
Semantic Scholar
MCIDAS mutations result in a mucociliary clearance disorder with reduced generation of multiple motile cilia
M. Boon, J. Wallmeier, Lina Ma, N. Loges +23 more
2014Nature Communications250 citations Open access
Semantic Scholar
CCDC103 mutations cause primary ciliary dyskinesia by disrupting assembly of ciliary dynein arms
J. Panizzi, A. Becker-Heck, Victoria H. Castleman, D. A. Al-Mutairi +23 more
2012Nature Genetics250 citations Open access
Semantic Scholar
DNAI2 mutations cause primary ciliary dyskinesia with defects in the outer dynein arm.
N. Loges, H. Olbrich, Lale Fenske, H. Mussaffi +18 more
2008American Journal of Human Genetics243 citations Open access
Semantic Scholar
An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes
G. Wheway, M. Schmidts, D. A. Mans, K. Szymanska +72 more
2015Nature Cell Biology240 citations Open access
Semantic Scholar
Defects in the IFT-B component IFT172 cause Jeune and Mainzer-Saldino syndromes in humans.
J. Halbritter, A. Bizet, M. Schmidts, Jonathan D. Porath +45 more
2013American Journal of Human Genetics223 citations Open access
Semantic Scholar
Sperm defects in primary ciliary dyskinesia and related causes of male infertility
A. Sironen, A. Shoemark, Mitali P. Patel, M. Loebinger +1 more
2019Cellular and Molecular Life Sciences204 citations Open access
Semantic Scholar
Splice-site mutations in the axonemal outer dynein arm docking complex gene CCDC114 cause primary ciliary dyskinesia.
A. Onoufriadis, T. Paff, Dinu Antony, A. Shoemark +14 more
2013American Journal of Human Genetics193 citations Open access
Semantic Scholar
De Novo Mutations in FOXJ1 Result in a Motile Ciliopathy with Hydrocephalus and Randomization of Left/Right Body Asymmetry.
J. Wallmeier, Diana Frank, A. Shoemark, Tabea Nöthe-Menchen +26 more
2019American Journal of Human Genetics189 citations Open access
Semantic Scholar
CCDC151 Mutations Cause Primary Ciliary Dyskinesia by Disruption of the Outer Dynein Arm Docking Complex Formation
R. Hjeij, A. Onoufriadis, C. Watson, Christopher E. Slagle +31 more
2014American Journal of Human Genetics158 citations Open access
Semantic Scholar
Motile cilia and airway disease.
M. Legendre, L. Zaragosi, H. Mitchison
2020Seminars in Cell and Developmental Biology146 citations Open access
Semantic Scholar
X-linked primary ciliary dyskinesia due to mutations in the cytoplasmic axonemal dynein assembly factor PIH1D3
C. Olcese, Mitali P. Patel, A. Shoemark, S. Kiviluoto +43 more
2017Nature Communications141 citations Open access
Semantic Scholar
Axonemal structures reveal mechanoregulatory and disease mechanisms
T. Walton, M. Gui, S. Velkova, M. Fassad +7 more
2023Nature137 citations Open access
Semantic Scholar
Exome sequencing identifies DYNC2H1 mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement
M. Schmidts, H. Arts, E. Bongers, Z. Yap +30 more
2013Journal of Medical Genetics135 citations Open access
Semantic Scholar
Corrigendum: TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport
M. Schmidts, Yu-Qing Hou, Claudio R. Cortés, D. A. Mans +23 more
2016Nature Communications133 citations Open access
Semantic Scholar
Short-rib polydactyly and Jeune syndromes are caused by mutations in WDR60.
A. McInerney-Leo, M. Schmidts, Claudio R. Cortés, P. Leo +13 more
2013American Journal of Human Genetics126 citations Open access
Semantic Scholar
Mutations in the gene encoding IFT dynein complex component WDR34 cause Jeune asphyxiating thoracic dystrophy.
M. Schmidts, J. Vodopiutz, S. Christou-Savina, Claudio R. Cortés +30 more
2013American Journal of Human Genetics125 citations Open access
Semantic Scholar
Progress towards understanding disease mechanisms in small vertebrate models of neuronal ceroid lipofuscinosis.
J. Cooper, C. Russell, H. Mitchison
2006Biochimica et Biophysica Acta113 citations Open access
Semantic Scholar
Accuracy of Immunofluorescence in the Diagnosis of Primary Ciliary Dyskinesia
A. Shoemark, E. Frost, M. Dixon, S. Ollosson +7 more
2017American Journal of Respiratory and Critical Care Medicine111 citations Open access
Semantic Scholar
Mutations in Outer Dynein Arm Heavy Chain DNAH9 Cause Motile Cilia Defects and Situs Inversus.
M. Fassad, A. Shoemark, M. Legendre, R. Hirst +23 more
2018American Journal of Human Genetics110 citations Open access
Semantic Scholar
Combined exome and whole-genome sequencing identifies mutations in ARMC4 as a cause of primary ciliary dyskinesia with defects in the outer dynein arm
A. Onoufriadis, A. Shoemark, M. Munye, C. James +16 more
2013Journal of Medical Genetics96 citations Open access
Semantic Scholar
Opportunities and Challenges for Molecular Understanding of Ciliopathies–The 100,000 Genomes Project
G. Wheway, H. Mitchison
2019Frontiers in Genetics87 citations Open access
Semantic Scholar
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
A. Onoufriadis, A. Shoemark, M. Schmidts, Mitali P. Patel +19 more
2014Human Molecular Genetics87 citations Open access
Semantic Scholar
Topological data analysis reveals genotype–phenotype relationships in primary ciliary dyskinesia
A. Shoemark, B. Rubbo, M. Legendre, M. Fassad +26 more
2021European Respiratory Journal86 citations Open access
Semantic Scholar
A high prevalence CCDC103 p.His154Pro mutation causing primary ciliary dyskinesia disrupts protein oligomerisation and is associated with normal diagnostic investigations
A. Shoemark, E. Moya, R. Hirst, Mitali P. Patel +33 more
2017Thorax81 citations Open access
Semantic Scholar
Clinical utility of NGS diagnosis and disease stratification in a multiethnic primary ciliary dyskinesia cohort
M. Fassad, Mitali P. Patel, A. Shoemark, T. Cullup +33 more
2019Journal of Medical Genetics79 citations Open access
Semantic Scholar
A founder CEP120 mutation in Jeune asphyxiating thoracic dystrophy expands the role of centriolar proteins in skeletal ciliopathies
R. Shaheen, M. Schmidts, E. Faqeih, A. Hashem +10 more
2014Human Molecular Genetics74 citations Open access
Semantic Scholar
Risk factors for situs defects and congenital heart disease in primary ciliary dyskinesia
Sunayna K. Best, A. Shoemark, B. Rubbo, Mitali P. Patel +24 more
2018Thorax67 citations Open access
Semantic Scholar
C11orf70 Mutations Disrupting the Intraflagellar Transport-Dependent Assembly of Multiple Axonemal Dyneins Cause Primary Ciliary Dyskinesia.
M. Fassad, A. Shoemark, P. Le Borgne, F. Koll +14 more
2018American Journal of Human Genetics65 citations Open access
Semantic Scholar
Glial cells are functionally impaired in juvenile neuronal ceroid lipofuscinosis and detrimental to neurons
L. Parviainen, S. Dihanich, G. Anderson, Andrew M. S. Wong +9 more
2017Acta Neuropathologica Communications65 citations Open access
Semantic Scholar
HEATR2 Plays a Conserved Role in Assembly of the Ciliary Motile Apparatus
C. Diggle, D. J. Moore, G. Mali, P. zur Lage +20 more
2014PLoS Genetics63 citations Open access
Semantic Scholar
Cell biology: How cilia beat
T. Mitchison, H. Mitchison
2010Nature63 citations Open access
Semantic Scholar
Identification of a wide spectrum of ciliary gene mutations in nonsyndromic biliary atresia patients implicates ciliary dysfunction as a novel disease mechanism
Wai-Yee Lam, C. S. Tang, Man-Ting So, Hai-Shu Yue +15 more
2021EBioMedicine62 citations Open access
Semantic Scholar
Rare Variant Analysis of Human and Rodent Obesity Genes in Individuals with Severe Childhood Obesity
A. Hendricks, E. Bochukova, G. Marenne, J. Keogh +266 more
2017Scientific Reports61 citations Open access
Semantic Scholar
Genome sequencing reveals underdiagnosis of primary ciliary dyskinesia in bronchiectasis
A. Shoemark, Helen Griffin, G. Wheway, C. Hogg +9 more
2022European Respiratory Journal57 citations Open access
Semantic Scholar
TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport
M. Schmidts, Yu-Qing Hou, Claudio R. Cortés, D. A. Mans +183 more
2015Nature Communications55 citations Open access
Semantic Scholar
Primary ciliary dyskinesia with normal ultrastructure: three-dimensional tomography detects absence of DNAH11
A. Shoemark, T. Burgoyne, Robert Kwan, M. Dixon +12 more
2018European Respiratory Journal54 citations Open access
Semantic Scholar
Photoreceptor phagosome processing defects and disturbed autophagy in retinal pigment epithelium of Cln3Δex1-6 mice modelling juvenile neuronal ceroid lipofuscinosis (Batten disease)
Silène T. Wavre-Shapton, Alessandra A. Calvi, M. Turmaine, M. Seabra +3 more
2015Human Molecular Genetics38 citations Open access
Semantic Scholar
Transcript and in silico analysis of CLN3 in juvenile neuronal ceroid lipofuscinosis and associated mouse models.
Chun‐Hung Chan, H. Mitchison, D. Pearce
2008Human Molecular Genetics38 citations Open access
Semantic Scholar
DNAAF1 links heart laterality with the AAA+ ATPase RUVBL1 and ciliary intraflagellar transport
V. Hartill, G. van de Hoek, Mitali P. Patel, Rosie B Little +24 more
2017Human Molecular Genetics33 citations Open access
Semantic Scholar
Hydrocephalus and diffuse choroid plexus hyperplasia in primary ciliary dyskinesia-related MCIDAS mutation
E. Robson, L. Dixon, L. Causon, W. Dawes +11 more
2020Neurology: Genetics30 citations Open access
Semantic Scholar
Clinical and genetic spectrum in 33 Egyptian families with suspected primary ciliary dyskinesia
M. Fassad, W. Shoman, H. Morsy, Mitali P. Patel +6 more
2020Clinical Genetics29 citations Open access
Semantic Scholar
Higher throughput drug screening for rare respiratory diseases: readthrough therapy in primary ciliary dyskinesia
D. Lee, D. Cardinale, E. Nigro, C. Butler +17 more
2021European Respiratory Journal26 citations Open access
Semantic Scholar
The Palestinian primary ciliary dyskinesia population: first results of the diagnostic and genetic spectrum
Nisreen Rumman, M. Fassad, C. Driessens, P. Goggin +21 more
2023ERJ Open Research20 citations Open access
Semantic Scholar

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