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| 35789471 | 50 Years of the steric-blocking mechanism in vertebrate skeletal muscle: a retrospective. | Journal of Muscle Research and Cell Motility | 2023 |
| 35140396 | Signatures of TOP1 transcription-associated mutagenesis in cancer and germline. | Nature | 2022 |
| 35504971 | Publisher Correction: Signatures of TOP1 transcription-associated mutagenesis in cancer and germline. | Nature | 2022 |
| 35693420 | Novel <i>SIX6</i> mutations cause recessively inherited congenital cataract, microcornea, and corneal opacification with or without coloboma and microphthalmia. | Mol Vis | 2022 |
| 36333305 | Pathogenic variants in SLF2 and SMC5 cause segmented chromosomes and mosaic variegated hyperploidy. | Nat Commun | 2022 |
| 36395119 | An experimental model of contusion injury in humans. | PLoS ONE | 2022 |
| 34481988 | Keratin intermediate filament chains in the European common wall lizard (Podarcis muralis) and a potential keratin filament crosslinker. | Journal of Structural Biology | 2021 |
| 34016138 | Microcephalic osteodysplastic primordial dwarfism type II is associated with global vascular disease. | Orphanet J Rare Dis | 2021 |
| 33577903 | Keratin intermediate filament chains in tuatara (Sphenodon punctatus): A comparison of tuatara and human sequences. | Journal of Structural Biology | 2021 |
| 34275721 | Intragenic copy number variation in mouse epiplakin 1 (Eppk1) and the conservation of the repeat structures in the lower vertebrates. | | 2021 |
| 33920614 | Structures of the ÿ-Keratin Filaments and Keratin Intermediate Filaments in the Epidermal Appendages of Birds and Reptiles (Sauropsids). | Genes | 2021 |
| 33220177 | Mutations in Spliceosomal Genes PPIL1 and PRP17 Cause Neurodegenerative Pontocerebellar Hypoplasia with Microcephaly. | Neuron | 2021 |
| 32800921 | Structure and topology of the linkers in the conserved lepidosaur β-keratin chain with four 34-residue repeats support an interfilament role for the central linker. | Journal of Structural Biology | 2020 |
| 31698074 | Lepidosaur ÿ-keratin chains with four 34-residue repeats: Modelling reveals a potential filament-crosslinking role. | Journal of Structural Biology | 2020 |
| 30773277 | Bi-allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes. | Am J Hum Genet | 2019 |
| 30478443 | Gain-of-function DNMT3A mutations cause microcephalic dwarfism and hypermethylation of Polycomb-regulated regions. | Nat Genet | 2019 |
| 30978459 | Molecular structure of sauropsid β-keratins from tuatara (Sphenodon punctatus). | Journal of Structural Biology | 2019 |
| 31407015 | Promiscuous Dimerization Between the Caenorhabditis elegans IF Proteins and a Hypothesis to Explain How Multiple IFs Persist Over Evolutionary Time. | Journal of Molecular Evolution | 2019 |
| 29797269 | Trichocyte Keratin-Associated Proteins (KAPs). | Advances in Experimental Medicine and Biology | 2018 |
| 30503519 | DNA Polymerase Epsilon Deficiency Causes IMAGe Syndrome with Variable Immunodeficiency. | Am J Hum Genet | 2018 |
| 30057030 | Mutations in TOP3A Cause a Bloom Syndrome-like Disorder. | Am J Hum Genet | 2018 |
| 30248462 | Direct evidence supporting the existence of a helical dislocation in protofilament packing in the intermediate filaments of oxidized trichocyte keratin. | Journal of Structural Biology | 2018 |
| 30290151 | A Recurrent De Novo Heterozygous COG4 Substitution Leads to Saul-Wilson Syndrome, Disrupted Vesicular Trafficking, and Altered Proteoglycan Glycosylation. | Am J Hum Genet | 2018 |
| 30193137 | Mutations in TOP3A Cause a Bloom Syndrome-like Disorder. | Am J Hum Genet | 2018 |
| 29128673 | Biallelic interferon regulatory factor 8 mutation: AÂ complex immunodeficiency syndrome with dendritic cell deficiency, monocytopenia, and immune dysregulation. | Journal of Allergy and Clinical Immunology | 2018 |
| 29543232 | Targeted genetic analysis in a large cohort of familial and sporadic cases of aneurysm or dissection of the thoracic aorta. | Genet Med | 2018 |
| 29797268 | Structural Hierarchy of Trichocyte Keratin Intermediate Filaments. | Advances in Experimental Medicine and Biology | 2018 |
| 28101857 | Fibrous Protein Structures: Hierarchy, History and Heroes. | Sub-Cellular Biochemistry | 2017 |
| 28808844 | Bialellic Mutations in Tetratricopeptide Repeat Domain 7A (TTC7A) Cause Common Variable Immunodeficiency-Like Phenotype with Enteropathy. | Journal of Clinical Immunology | 2017 |
| 28890162 | Intermediate filament structure in fully differentiated (oxidised) trichocyte keratin. | Journal of Structural Biology | 2017 |
| 29100095 | Mutations in GPAA1, Encoding a GPI Transamidase Complex Protein, Cause Developmental Delay, Epilepsy, Cerebellar Atrophy, and Osteopenia. | Am J Hum Genet | 2017 |
| 29163546 | Glucose-6-Phosphatase Catalytic Subunit 3 () Deficiency Associated With Autoinflammatory Complications. | Frontiers in Immunology | 2017 |
| 28063204 | Assembly studies of six intestinal intermediate filament (IF) proteins B2, C1, C2, D1, D2, and E1 in the nematode C. elegans. | Cytoskeleton | 2017 |
| 28101864 | Filamentous Structure of Hard β-Keratins in the Epidermal Appendages of Birds and Reptiles. | Sub-Cellular Biochemistry | 2017 |
| 28101861 | Structural Transition of Trichocyte Keratin Intermediate Filaments During Development in the Hair Follicle. | Sub-Cellular Biochemistry | 2017 |
| 27693231 | Mutations in the pH-Sensing G-protein-Coupled Receptor GPR68 Cause Amelogenesis Imperfecta. | Am J Hum Genet | 2016 |
| 26795474 | Using Data Mining and Computational Approaches to Study Intermediate Filament Structure and Function. | Methods in Enzymology | 2016 |
| 27280866 | De novo mutations in autosomal recessive congenital malformations. | Genetics in Medicine | 2016 |
| 27221134 | Clinical and immunologic phenotype associated with activated phosphoinositide 3-kinase δ syndrome 2: A cohort study. | Journal of Allergy and Clinical Immunology | 2016 |
| 26996948 | Pathogenic Variants in PIGG Cause Intellectual Disability with Seizures and Hypotonia. | Am J Hum Genet | 2016 |
| 27215564 | A Case of SLC29A3 Spectrum Disorder-Unresponsive to Multiple Immunomodulatory Therapies. | Journal of Clinical Immunology | 2016 |
| 27030597 | Familial autoinflammation with neutrophilic dermatosis reveals a regulatory mechanism of pyrin activation. | Science Translational Medicine | 2016 |
| 26560041 | A homozygous STIM1 mutation impairs store-operated calcium entry and natural killer cell effector function without clinical immunodeficiency. | J Allergy Clin Immunol | 2016 |
| 26340985 | Localisation of keratin K78 in the basal layer and first suprabasal layers of stratified epithelia completes expression catalogue of type II keratins and provides new insights into sequential keratin expression. | Cell and Tissue Research | 2016 |
| 27894351 | Characterizing the morbid genome of ciliopathies. | Genome Biol | 2016 |
| 26626625 | Congenital Myasthenic Syndrome Type 19 Is Caused by Mutations in COL13A1, Encoding the Atypical Non-fibrillar Collagen Type XIII α1 Chain. | Am J Hum Genet | 2015 |
| 25928877 | Variability of systemic and oro-dental phenotype in two families with non-lethal Raine syndrome with FAM20C mutations. | BMC Med Genet | 2015 |
| 25794656 | A new case of Fas-associated death domain protein deficiency and update on treatment outcomes. | J Allergy Clin Immunol | 2015 |
| 26515761 | The molecular structure of the silk fibers from Hymenoptera aculeata (bees, wasps, ants). | Journal of Structural Biology | 2015 |
| 26167768 | An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes. | Nat Cell Biol | 2015 |