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CIMR publications

2016 publications:

Adams PD et al. Outcome of the first wwPDB/CCDC/D3R ligand validation workshop. Structure 24, 502–508 (2016).

Adams PM et al. Assessment of the genetic variance of late-onset Alzheimer’s disease. Neurobiology of Aging 41, 200.e13-200.e20 (2016).

Adams TE & Huntington JA. Structural transitions during prothrombin activation: on the importance of fragment 2. Biochimie 122, 235–242 (2016).

Al-Lamki RS et al. Tumor necrosis factor receptor 2-signaling in CD133-expressing cells in renal clear cell carcinoma. Oncotarget doi:10.18632/oncotarget.8125 (2016).

Ammann S et al. Mutations in AP3D1 associated with immunodeficiency and seizures define a new type of Hermansky-Pudlak syndrome. Blood 127, 997–1006 (2016).

Arden SD, Tumbarello DA, Butt T, Kendrick-Jones J & Buss F. Loss of cargo binding in the human myosin VI deafness mutant (R1166X) leads to increased actin filament binding. Biochem J. 473, 3307–3319 (2016).

Arno G et al. Mutations in REEP6 cause autosomal-recessive retinitis pigmentosa. Am. J. Hum. Genet. 99, 1305–1315 (2016).

Arno G et al. Reevaluation of the retinal dystrophy due to recessive alleles of RGR with the discovery of a cis-acting mutation in CDHR1. Invest. Ophthalmol. Vis. Sci. 57, 4806–4813 (2016).

Astuti GDN et al. Mutations in AGBL5, encoding α-tubulin deglutamylase, are associated with autosomal recessive retinitis pigmentosa. Invest. Ophthalmol. Vis. Sci. 57, 6180–6187 (2016).

Bacchelli C et al. Mutations in linker for activation of T cells (LAT) lead to a novel form of severe combined immunodeficiency. J. Allergy Clin. Immunol. doi: 10.1016/j.jaci.2016.05.036 (2016).

Baglin TP, Langdown J, Frasson R & Huntington, JA. Discovery and characterization of an antibody directed against exosite I of thrombin. J. Thromb. Haemost. 14, 137–142 (2016).

Barbosa AD & Siniossoglou S. Spatial distribution of lipid droplets during starvation: implications for lipophagy. Commun. Integr. Biol. 9, e1183854 (2016).

Bento CF, Ashkenazi A, Jimenez-Sanchez M & Rubinsztein DC. The Parkinson’s disease-associated genes ATP13A2 and SYT11 regulate autophagy via a common pathway. Nature Commun. 7, 11803 (2016).

Bento CF, Renna M, Ghislat G, Puri C, Ashkenazi A, Vicinanza M & Rubinsztein DC. Mammalian autophagy: how does it work? Annu. Rev. Biochem. 85, 685–713 (2016).

Bianciardi L et al. MECP2 missense mutations outside the canonical MBD and TRD domains in males with intellectual disability. J. Hum. Genet. 61, 95–101 (2016).

Boldt K, Van Reeuwijk J, Lu Q, Koutroumpas K, Nguyen TMT, Texier Y & Ueffing M. An organelle-specific protein landscape identifies novel diseases and molecular mechanisms. Nature Comm. 7, doi:10.1038/ncomms11491 (2016).

Bright NA, Davis LJ & Luzio JP. Endolysosomes are the principal intracellular sites of acid hydrolase activity. Curr. Biol. 26, 2233–2245 (2016).

Burr SP et al. Mitochondrial protein lipoylation and the 2-oxoglutarate dehydrogenase complex controls HIF1α stability in aerobic conditions. Cell Met. (2016).

Burrows N, Cane G, Robson M, Gaude E, Howat WJ, Szlosarek PW & Maxwell PH. Hypoxia-induced nitric oxide production and tumour perfusion is inhibited by pegylated arginine deiminase (ADI-PEG20). Sci. Rep. 6, 22950 (2016).

Cetica V et al. Genetic predisposition to hemophagocytic lymphohistiocytosis: report on 500 patients from the Italian registry. J. Allergy Clin. Immunol. 137, 188–196.e4. doi:10.1016/j.jaci.2015.06.048 (2016).

Chang FC et al. Phenotypic insights into ADCY5-associated disease. Mov. Disord. 31, 1033–1040 (2016).

Connell JW, Allison R & Reid E. Quantitative gait analysis using a motorized treadmill system sensitively detects motor abnormalities in mice expressing ATPase defective spastin. PLoS One 11, e0152413 (2016).

Crisp N et al. Manifesto for a healthy and health-creating society. Lancet doi:10.1016/S0140-6736(16)31801-3 (2016).

Curtis D et al. Practical experience of the application of a weighted burden test to whole exome sequence data for obesity and schizophrenia. Ann. Hum. Genet. 80, 38–49 (2016).

De Franceschi N et al. Selective integrin endocytosis is driven by interactions between the integrin α-chain and AP2. Nature Struct. Mol. Biol. 23, 172–179 (2016).

de la Roche M, Asano Y & Griffiths GM. Origins of the cytolytic synapse. Nature Rev. Immunol. 16, 421–432 (2016).

Dennis MK et al. BLOC-1 and BLOC-3 regulate VAMP7 cycling to and from melanosomes via distinct tubular transport carriers. J. Cell Biol. 214, 293–308 (2016).

Dias C et al. BCL11A haploinsufficiency causes an intellectual disability syndrome and dysregulates transcription. Am. J. Hum. Genet. 99, 253–274 (2016).

Dickens JA et al. The endoplasmic reticulum remains functionally connected by vesicular transport after its fragmentation in cells expressing Z-α1-antitrypsin. FASEB J. 6, doi:10.1096/fj.201600430R (2016).

Dieckmann NMG, Frazer GL, Asano Y, Stinchcombe JC & Griffiths GM. The cytotoxic T lymphocyte immune synapse at a glance. J. Cell Sci. 129, 2881–2886 (2016).

Edgar JR, Manna PT, Nishimura S, Banting G & Robinson MS. Tetherin is an exosomal tether. eLife 5, e17180 (2016).

Felix J et al. Structural basis of GM-CSF and IL-2 sequestration by the viral decoy receptor GIF. Nature Comm. 7, 13228 (2016).

Fra A et al. Polymers of Z α1-antitrypsin are secreted in cell models of disease. Eur. Respir. J. 47, 1005–1009 (2016).

Frazier MN, Davies AK, Voehler M, Kendall AK, Borner GH, Chazin WJ & Jackson LP. Molecular basis for the interaction between AP4 β4 and its accessory protein, tepsin. Traffic 17, 400–415 (2016).

Füllgrabe J, Ghislat G, Cho DH & Rubinsztein DC. Transcriptional regulation of mammalian autophagy at a glance. J. Cell Sci. 129, 3059–3066 (2016).

Gale DP et al. A novel COL4A1 frameshift mutation in familial kidney disease: the importance of the C-terminal NC1 domain of type IV collagen. Nephrol. Dial. Transplant. doi:10.1093/ndt/gfw051 (2016).

Ghani M, Sato C, Kakhki EG, Gibbs JR, Traynor B, St George-Hyslop P & Rogaeva E. Mutation analysis of the MS4A and TREM gene clusters in a case-control Alzheimer’s disease data set. Neurobiol Aging 42, 217. e7-217.e13 (2016).

Golder ZJ & Karet Frankl FE. Extra-renal locations of the a4 subunit of H(+)ATPase. BMC Cell Biol. 17, 27 doi:10.1186/s12860-016-0106-8 (2016).

Greenwood E et al. Temporal proteomic analysis of HIV infection reveals remodeling of the host phosphoproteome by lentiviral Vif variants. eLife 5, e18296 (2016).

Grice GL & Nathan JA. The recognition of ubiquitinated proteins by the proteasome. Cell. Mol. Life Sci. 73, 3497–3506 (2016).

Guerreiro R et al. Genome-wide analysis of genetic correlation in dementia with Lewy bodies, Parkinson’s and Alzheimer’s diseases. Neurobiol Aging 38, 214.e7-214.10 (2016).

Ho Y, Li X, Jamison, S, Harding HP, McKinnon PJ, Ron D & Lin W. PERK activation promotes medulloblastoma tumorigenesis by attenuating premalignant granule cell precursor apoptosis. Am. J. Pathol. 186, 1939–1951 (2016).

Hoare M et al. NOTCH1 mediates a switch between two distinct secretomes during senescence. Nature Cell Biol. 18, 979–992 (2016).

Huang X et al. Molecular mechanism of Z α1-antitrypsin deficiency. J. Biol. Chem. 291, 15674–15686 (2016).

Hull S et al. Nonsyndromic retinal dystrophy due to bi-allelic mutations in the ciliary transport gene IFT140. Invest. Ophthalmol. Vis. Sci. 57, 1053–1062 (2016).

In K, Zaini MA, Müller C, Warren AJ, von Lindern M & Calkhoven CF. Shwachman-Bodian-Diamond syndrome (SBDS) protein deficiency impairs translation re-initiation from C/EBPα and C/EBPβ mRNAs. Nuc. Acid Res. doi:10.1093/nar/gkw005 (2016).

Iotchkova V et al. Discovery and refinement of genetic loci associated with cardiometabolic risk using dense imputation maps. Nature Genet. 48, 1303–1312 (2016).

Itzcovich T, Xi Z, Martinetto H, Chrem-Méndez P, Russo MJ, de Ambrosi B & Surace EI. Analysis of C9orf72 in patients with frontotemporal dementia and amyotrophic lateral sclerosis from Argentina. Neurobiol. Aging 40, 192.e13-192.e15 (2016).

Jimenez-Sanchez M, Licitra F, Underwood BR & Rubinsztein DC. Huntington’s disease: mechanisms of pathogenesis and therapeutic strategies. Cold Spring Harb. Perspect. Med. doi:10.1101/cshperspect.a024240 (2016).

Karniely S, Weekes MP, Antrobus R, Rorbach J, van Haute L, Umrania Y & Sinclair JH. Human cytomegalovirus infection upregulates the mitochondrial transcription and translation machineries. MBio. 7(2), e00029 doi:10.1128/mBio.00029-16 (2016).

Kelly BT, Graham SC & Owen DJ. Using selenomethionyl derivatives to assign sequence in low-resolution structures of the AP2 clathrin adaptor. Acta Crystallogr. D Struct. Biol. 72, 336–345 (2016).

Kendrick-Jones J & Buss F. Editorial overview: myosins in review. Traffic 17, 819–821 (2016).

Khan KN et al. Vitamin A deficiency due to bi-allelic mutation of RBP4: there’s more to it than meets the eye. Ophthalmic Genet. 1–2 doi:10.1080/13816810.2016.1227453 (2016).

Kim JH et al. De novo mutations in SON disrupt RNA splicing of genes essential for brain development and metabolism, causing an intellectual-disability syndrome. Am. J. Hum. Genet. 99, 711–719 (2016).

Klionsky DJ et al. Guidelines for the use and interpretation of assays for monitoring autophagy (3rd edition). Autophagy 12, 1–222 (2016). Erratum in 12, 443 (2016).

Kruppa AJ, Kendrick-Jones J & Buss F. Myosins, actin and autophagy. Traffic 17, 878–890 (2016).

Larkin H, Costantino S, Seaman MN & Lavoie C. Calnuc function in endosomal sorting of lysosomal receptors. Traffic 17, 416–432 (2016).

Laskowski RA et al. Integrating population variation and protein structural analysis to improve clinical interpretation of missense variation: application to the WD40 domain. Hum. Mol. Genet. 25, 927–935 (2016).

Li F et al. Dent disease in Chinese children and findings from heterozygous mothers: phenotypic heterogeneity, fetal growth, and 10 novel mutations. J. Pediatr. 174, 204–210. e1 (2016).

Liu C et al. A secreted WNT-ligand-binding domain of FZD5 generated by a frameshift mutation causes autosomal dominant coloboma. Hum. Mol. Genet. 25, 1382–1391 (2016).

Long J et al. Plasma membrane profiling reveals upregulation of ABCA1 by infected macrophages leading to restriction of mycobacterial growth. Front. Microbiol. 7, 1086 (2016).

Ma L et al. Transient Fcho1/2-Eps15/R-AP-2 nanoclusters prime the AP-2 clathrin adaptor for cargo binding. Dev. Cell 37, 428–443 (2016).

Marciniak SJ et al. New concepts in alpha-1 antitrypsin deficiency disease mechanisms. Ann. Am. Thorac. Soc. 13 Suppl. 4, S289–S296 (2016).

Rintoul RC et al. MesobanK UK: an international mesothelioma bioresource. Thorax 71, 380–382 (2016).

Mardones P, Rubinsztein DC & Hetz C. Mystery solved: trehalose kickstarts autophagy by blocking glucose transport. Sci. Signal. 9, fs2. doi:10.1126/scisignal.aaf1937 (2016).

Martin CA et al. Mutations in genes encoding condensin complex proteins cause microcephaly through decatenation failure at mitosis. Genes Dev. 30, 2158–2172 (2016).

Martin JL, Read RJ & Wakatsuki S. Expanding beyond biological crystallography. Acta Crystallogr. D Struct. Biol. 72, 1 doi:10.1107/S2059798315023761 (2016).

Masters TA, Kendrick-Jones J & Buss F. Calcium gets myosin VI ready for work. Proc. Natl Acad. Sci. USA 113, 2325–2327 (2016).

Masters TA, Kendrick-Jones J & Buss F. Myosins: domain organisation, motor properties, physiological roles and cellular functions. Handb. Exp. Pharmacol. 10.1007/164_2016_29 (2016).

Matheson NJ, Greenwood EJ & Lehner PJ. Manipulation of immunometabolism by HIV – accessories to the crime? Curr. Opin. Virol. 19, 65–70 (2016).

Mauricio RPM, Jeffries CM, Svergun DI & Deane JE. The Shigella virulence factor IcsA relieves N-WASP autoinhibition by displacing the VCA domain. J. Biol. Chem. doi:10.1074/jbc.M116.758003 (2016).

Maxwell PH & Eckardt KU. HIF prolyl hydroxylase inhibitors for the treatment of renal anaemia and beyond. Nature Rev. Nephrol. 12, 157–168 (2016).

McDowell MA et al. Characterisation of Shigella Spa33 and Thermotoga FliM/N reveals a new model for C-ring assembly in T3SS. Mol. Microbiol. 99, 749–766 (2016).

McKerrell T et al. Development and validation of a comprehensive genomic diagnostic tool for myeloid malignancies. Blood 128, e1–e9 (2016).

Mencacci NE et al. De novo mutations in PDE10A cause childhood-onset chorea with bilateral striatal lesions. Am. J. Hum. Genet. 98, 763–771 (2016).

Middleton A et al. Attitudes of nearly 7000 health professionals, genomic researchers and publics toward the return of incidental results from sequencing research. Eur. J. Hum. Genet. 24, 21–29 (2016).

Miyake M et al. Skeletal muscle-specific eukaryotic translation initiation factor 2α phosphorylation controls amino acid metabolism and fibroblast growth factor 21-mediated non-cell-autonomous energy metabolism. FASEB J. 30, 798–812 (2016).

Montecchiani C et al. ALS5/SPG11/KIAA1840 mutations cause autosomal recessive axonal Charcot-Marie-Tooth disease. Brain 139, 73–85 (2016).

Muona M et al. Biallelic variants in UBA5 link dysfunctional UFM1 ubiquitin-like modifier pathway to severe infantile-onset encephalopathy. Am. J. Hum. Genet. 99, 683–694 (2016).

Nahorski MS et al. CCDC88A mutations cause PEHO-like syndrome in humans and mouse. Brain 139, 1036–1044 (2016).

Nolan K, Kattamuri C, Rankin SA, Read RJ, Zorn AM & Thompson TB. Structure of gremlin-2 in complex with GDF5 gives insight into DAN-family-mediated BMP antagonism. Cell Rep. 16, 2077–2086 (2016).

Pavel M & Rubinsztein DC. Mammalian autophagy and the plasma membrane. FEBS J. doi:10.1111/febs.13931 (2016).

Pavel M et al. CCT complex restricts neuropathogenic protein aggregation via autophagy. Nature Comm. 7, 13821 doi:10.1038/ncomms13821 (2016).

Polderdijk SGI, Adams TE, Ivanciu L, Camire RM, Baglin TP & Huntington JA. Design and characterization of an APC-specific serpin for the treatment of haemophilia. Blood doi:10.1182/blood-2016-05-718635 (2016).

Preissler S, Rato C, Perera LA, Saudek V & Ron D. FICD acts bifunctionally to AMPylate and de-AMPylate the endoplasmic reticulum chaperone BiP. Nature Struct. Mol. Biol. doi:10.1038/nsmb.3337 (2016).

Rapiteanu R, Davis LJ, Williamson JC, Timms RT, Luzio PJ & Lehner PJ. A genetic screen identifies a critical role for the WDR81- WDR91 complex in the trafficking and degradation of tetherin. Traffic 17, 940–958 (2016).

Read RJ & McCoy AJ. A log-likelihood-gain intensity target for crystallographic phasing that accounts for experimental error. Acta Crystallogr. D Struct. Biol. 72, 375–387 (2016).

Reijnders MR et al. De novo loss-of-function mutations in USP9X cause a female-specific recognizable syndrome with developmental delay and congenital malformations. Am. J. Hum. Genet. 98, 373–381 (2016).

Renna M & Rubinsztein DC. Macroautophagy without LC3 conjugation? Cell Res. doi:10.1038/cr.2016.143 (2016).

Riazuddin S et al. Exome sequencing of Pakistani consanguineous families identifies 30 novel candidate genes for recessive intellectual disability. Mol. Psychiatry doi: 10.1038/mp.2016.109 (2016).

Robinson CM & Karet Frankl FE. Magnesium lactate in the treatment of Gitelman syndrome: patient-reported outcomes. Nephrol. Dial. Transplant. doi:10.1093/ndt/gfw019 (2016).

Rowe ER et al. Conserved amphipathic helices mediate lipid droplet targeting of perilipins 1-3. J. Biol. Chem. 291, 6664–6678 (2016).

Rubinsztein DC & Orr HT. Diminishing return for mechanistic therapeutics with neurodegenerative disease duration? There may be a point in the course of a neurodegenerative condition where therapeutics targeting disease-causing mechanisms are futile. Bioessays 38, 977–980 (2016).

Rubinsztein DC. Tau toxicity feeds forward in frontotemporal dementia. Nature Med. 22, 24–25 (2016).

Scholz CC et al. FIH regulates cellular metabolism through hydroxylation of the deubiquitinase OTUB1. PLoS Biol. 14, e1002347 (2016).

Schuurs-Hoeijmakers JH et al. Clinical delineation of the PACS1-related syndrome – report on 19 patients. Am. J. Med. Genet. A 170, 670–675 (2016).

Sciacovelli M et al. Fumarate is an epigenetic modifier that elicits epithelial-tomesenchymal transition. Nature 537, 544–547 (2016); correction in 540, 150 (2016).

Sekine Y, Zyryanova A, Crespillo-Casado A, Amin-Wetzel N, Harding HP & Ron D. Paradoxical sensitivity to an integrated stress response blocking mutation in vanishing white matter cells. PLoS One 11, e0166278 (2016).

Shaikh SS et al. A comprehensive functional analysis of NTRK1 missense mutations causing hereditary sensory and autonomic neuropathy type IV (HSAN IV). Hum. Mutat. doi: 10.1002/humu.23123 (2016).

Sifrim A et al. Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing. Nature Genet. 48, 1060–1065 (2016).

Singh T et al. Rare loss-of-function variants in SETD1A are associated with schizophrenia and developmental disorders. Nature Neurosci. 19, 571–577 (2016).

Smogavec M et al. Eight further individuals with intellectual disability and epilepsy carrying bi-allelic CNTNAP2 aberrations allow delineation of the mutational and phenotypic spectrum. J. Med. Genet. doi:10.1136/jmedgenet-2016-103880 (2016).

Sorrell SL, Golder ZJ, Johnstone DB & Karet Frankl FE. Renal peroxiredoxin 6 interacts with anion exchanger 1 and plays a novel role in pH homeostasis. Kidney Int. 89, 105–112 (2016).

Spratley SJ & Deane JE. New therapeutic approaches for Krabbe disease: the potential of pharmacological chaperones. J. Neurosci. Res. 94, 1203–1219 (2016).

Spratley SJ, Hill CH, Viuff AH, Edgar JR, Skjødt K & Deane JE. Molecular mechanisms of disease pathogenesis differ in Krabbe disease variants. Traffic 17, 908–922 (2016).

Stegen S et al. HIF-1α promotes glutamine-mediated redox homeostasis and glycogen-dependent bioenergetics to support postimplantation bone cell survival. Cell Metab. 23, 265–279 (2016).

Streeter A, Menzies FM & Rubinsztein DC. LC3-II tagging and western blotting for monitoring autophagic activity in mammalian cells. Methods Mol. Biol. 1303, 161–170 (2016).

Stritt S et al. A gain-of-function variant in DIAPH1 causes dominant macrothrombocytopenia and hearing loss. Blood 127, 2903–2914 (2016).

Sun J et al. A method for analyzing multiple continuous phenotypes in rare variant association studies allowing for flexible correlations in variant effects. Eur. J. Hum. Genet. 24, 1344–1351 (2016).

Takatani R et al. Analysis of multiple families with single individuals affected by pseudohypoparathyroidism type Ib (PHP1B) reveals only one novel maternally inherited GNAS deletion. J. Bone Miner. Res. 31, 796–805 (2016).

Temprano A et al. Redundant roles of the phosphatidate phosphatase family in triacylglycerol synthesis in human adipocytes. Diabetologia 59, 1985–1994 (2016).

Timms RT et al. Genetic dissection of mammalian ERAD through comparative haploid and CRISPR forward genetic screens. Nature Comm. 7, 11786 (2016).

Timms RT, Tchasovnikarova IA & Lehner PJ. Position-effect variegation revisited: HUSHing up heterochromatin in human cells. Bioessays 38, 333–343 (2016).

Timms RT, Tchasovnikarova IA, Antrobus R, Dougan G & Lehner PJ. ATF7IP-mediated stabilization of the histone methyltransferase SETDB1 is essential for heterochromatin formation by the HUSH complex. Cell Rep. 17, 653–659 (2016).

Traylor M et al. Shared genetic contribution to ischaemic stroke and Alzheimer’s disease. Ann. Neurol. doi:10.1002/ana.24621 (2016).

Turnball ML et al. Role of the B allele of influenza A virus segment 8 in setting mammalian host range and pathogenicity. J. Virol. 90, 9263–9284 (2016).

Turro E et al. A dominant gain-of-function mutation in universal tyrosine kinase SRC causes thrombocytopenia, myelofibrosis, bleeding, and bone pathologies. Sci. Transl. Med. 8, 328ra30 (2016).

Ulbrich L et al. Autism-associated R451C mutation in neuroligin3 leads to activation of the unfolded protein response in a PC12 Tet-On inducible system. Biochem. J. 473, 423–434 (2016).

Vicinanza M & Rubinsztein DC. Mirror image phosphoinositides regulate autophagy. Mol. Cell Oncol. 3, e1019974 (2016).

Weiss MS et al. A critical examination of the recently reported crystal structures of the human SMN protein. Hum. Mol. Genet. doi:10.1093/hmg/ddw298 (2016).

White RR et al. Ubiquitin-dependent modification of skeletal muscle by the parasitic nematode, Trichinella spiralis. PLoS Pathog. 12, e1005977 (2016).

Woods CG. Autonomic neurology. Eur. J. Hum. Genet. 24, 152 (2016).

Wu X et al. Autophagy regulates Notch degradation and modulates stem cell development and neurogenesis. Nature Commun. 7, 10533 (2016).



2015 publications:

Abdulkarim B et al. A missense mutation in PPP1R15B causes a syndrome including diabetes, short stature, and microcephaly. Diabetes 64, 3951–3962 (2015).

Adams TE & Huntington JA. Structural transitions during prothrombin activation: on the importance of fragment 2. Biochimie doi 10.1016/j.biochi.2015.09.013 (2015)

Alberici F, Smith RM, Jones RB, Roberts DM, Willcocks LC, Chaudhry A, Smith KGC & Jayne DRW. Long-term follow-up of patients who received repeat-dose rituximab as maintenance therapy for ANCA-associated vasculitis. Rheumatology 54, 1153–1160 (2015).

Avezov E, Konno T, Zyryanova A, Chen W, Laine R, Crespillo-Casado A & Ron D. Retarded PDI diffusion and a reductive shift in poise of the calcium depleted endoplasmic reticulum. BMC Biol. 13, 2 (2015).

Ba-Abbad R, Arno G, Carss K, Stirrups K, Penkett CJ, Moore AT, Michaelides M, Raymond FL, Webster AR & Holder GE. Mutations in CACNA2D4 cause distinctive retinal dysfunction in humans. Ophthalmology doi:10.1016/j.ophtha.2015.09.045 (2015).

Baglin TP, Langdown J, Frasson R & Huntington JA. Discovery and characterization of an antibody directed against exosite I of thrombin. J. Thromb. Haemost. doi:10.1111/jth.13171 (2015).

Baker K, Astle DE, Scerif G, Barnes J, Smith J, Moffat G & Raymond FL. Epilepsy, cognitive deficits and neuroanatomy in males with ZDHHC9 mutations. Ann. Clin. Transl. Neurol. 2, 559–569 (2015).

Baker K, Gordon SL, Grozeva D, van Kogelenberg M, Roberts NY, Pike M & Raymond FL. Identification of a human synaptotagmin-1 mutation that perturbs synaptic vesicle cycling. J. Clin. Invest. 125, 1670–1678 (2015).

Baker K, Scerif G, Astle DE, Fletcher PC & Raymond FL. Psychopathology and cognitive performance in individuals with membrane-associated guanylate kinase mutations: a functional network phenotyping study. J. Neurodev. Disord. 7, 8 (2015).

Barbosa AD, Savage DB & Siniossoglou S. Lipid droplet-organelle interactions: emerging roles in lipid metabolism. Curr. Opin. Cell Biol. 35, 91–97 (2015).

Barbosa AD, Sembongi H, Su WM, Abreu S, Reggiori F, Carman GM & Siniossoglou S. Lipid partitioning at the nuclear envelope controls membrane biogenesis. Mol. Biol. Cell 26, 3641–3657 (2015).

Behr ER et al. Role of common and rare variants in SCN10A: results from the Brugada syndrome QRS locus gene discovery collaborative study. Cardiovasc Res. 106, 520–529 (2015).

Bell CJ et al. Sustained in vivo signaling by long-lived IL-2 induces prolonged increases of regulatory T cells. J. Autoimmun. 56, 66–80 (2015).

Berry GJ, Frielle C, Luu T, Salzberg AC, Rainbow DB, Wicker LS & Waldner H. Genome-wide transcriptional analyses of islet-specific CD4+ T cells identify Idd9 genes controlling diabetogenic T cell function. J. Immunol. 194, 2654–2663 (2015).

Bianciardi L et al. MECP2 missense mutations outside the canonical MBD and TRD domains in males with intellectual disability. J. Hum. Genet. doi:10.1038/jhg.2015.118 (2015).

Bowes J et al. Dense genotyping of immune-related susceptibility loci reveals new insights into the genetics of psoriatic arthritis. Nature Comm. 6, 6046 (2015).

Bright NA, Wartosch L & Luzio JP. Lysosome fusion in cultured mammalian cells. Meth. Cell Biol. 126, 101–118 (2015).

Bunkóczi G, McCoy AJ, Echols N, Grosse-Kunstleve RW, Adams PD, Holton JM, Read RJ & Terwilliger TC. Macromolecular X-ray structure determination using weak, single-wavelength anomalous data. Nature Meth. 12, 127–130 (2015).

Bunkóczi G, Wallner B & Read RJ. Local error estimates dramatically improve the utility of homology models for solving crystal structures by molecular replacement. Structure 23, 397–406 (2015).

Button RW, Luo S & Rubinsztein DC. Autophagic activity in neuronal cell death. Neuroscience Bulletin 31, 382–394 (2015).

Cano F, Rapiteanu R, Sebastiaan Winkler G & Lehner PJ. A non-proteolytic role for ubiquitin in deadenylation of MHC-I mRNA by the RNA-binding E3-ligase MEX-3C. Nature Comm. 6, 8670 (2015).

Cetica V et al. Homozygous deletion in STXBP2 causative of familial hemophagocytic lymphohistiocytosis type 5 (FHL-5). Pediatric Blood & Cancer 62, S4 (2015).

Cetica V et al. Genetic predisposition to hemophagocytic lymphohistiocytosis: Report on 500 patients from the Italian registry. J. Allergy Clin. Immunol. doi:10.1016/j.jaci.2015.06.048 (2015).

Chambers JE, Dalton LE, Clarke HJ, Malzer E, Dominicus CS, Patel V, Moorhead G, Ron D & Marciniak SJ. Actin dynamics tune the integrated stress response by regulating eukaryotic initiation factor 2α dephosphorylation. Elife 4 doi: 10.7554/eLife.04872 (2015).

Chambers JE, Dalton LE, Subramanian DN, Gooptu B, Balan A, Park SM & Marciniak SJ. Spontaneous pneumothorax can be associated with TGFBR2 mutation. Eur. Respir. J. doi:10.1183/13993003.00952-2015 (2015).

Chaudhry A et al. Phenotypic spectrum associated with PTCHD1 deletions and truncating mutations includes intellectual disability and autism spectrum disorder. Clinical Genet. 88, 224–233 (2015).

Chen R, Rato C, Yan Y, Crespillo-Casado A, Clarke HJ, Harding HP, Marciniak SJ, Read RJ & Ron D. G-actin provides substrate-specificity to eukaryotic initiation factor 2α holophosphatases. Elife 4, doi: 10.7554/eLife.04871. (2015).

Cohen S, Nathan JA & Goldberg AL. Muscle wasting in disease: molecular mechanisms and promising therapies. Nature Rev. Drug Disc. 14, 58–74 (2015).

Cooper NJ, Shtir CJ, Smyth DJ, Guo H, Swafford AD, Zanda M & Todd JA. Detection and correction of artefacts in estimation of rare copy number variants and analysis of rare deletions in type 1 diabetes. Hum. Mol. Genet. 24, 1774–1790 (2015).

Dieckmann NMG, Hackmann Y, Aricò M & Griffiths GM. Munc18-2 is required for syntaxin 11 Localization on the plasma membrane in cytotoxic T-lymphocytes. Traffic doi:10.1111/tra.12337 (2015).

Dopico XC et al. Widespread seasonal gene expression reveals annual differences in human immunity and physiology. Nature Comm. 6, 7000 (2015).

Dunphy SE, Guinan KJ, Chorcora CN, Jayaraman J, Traherne JA, Trowsdale J, Pende D, Middleton D & Gardiner CM. 2DL1, 2DL2 and 2DL3 all contribute to KIR phenotype variability on human NK cells. Genes Immunity 16, 301–310 (2015).

Egan ES, Jiang RH, Moechtar MA, Barteneva NS, Weekes MP, Nobre LV & Duraisingh MT. Malaria. A forward genetic screen identifies erythrocyte CD55 as essential for Plasmodium falciparum invasion. Science 348, 711–714 (2015).

Ejlerskov P et al. Lack of neuronal IFN-β-IFNAR causes Lewy Body- and Parkinson's Disease-like dementia. Cell 163, 324–339 (2015).

Ferreira RC et al. IL-21 production by CD4+ effector T cells and frequency of circulating follicular helper T cells are increased in type 1 diabetes patients. Diabetologia 58, 781–790 (2015).

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Jimenez-Sanchez M, Lam W, Hannus M, Sönnichsen B, Imarisio S, Fleming A & Rubinsztein DC. SiRNA screen identifies QPCT as a druggable target for Huntington's disease. Nature Chemical Biol. 11, 347–354 (2015).

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McKinney EF, Lee JC, Jayne DR, Lyons PA & Smith KG. T-cell exhaustion, co-stimulation and clinical outcome in autoimmunity and infection. Nature 523, 612–616 (2015).

Menzies FM, Fleming A & Rubinsztein DC. Compromised autophagy and neurodegenerative diseases. Nature Rev. Neurosci. 16, 345–357 (2015).

Menzies FM, Garcia-Arencibia M, Imarisio S, O'Sullivan NC, Ricketts T, Kent BA & Rubinsztein DC. Calpain inhibition mediates autophagy-dependent protection against polyglutamine toxicity. Cell Death Diff. 22, 433–444 (2015).

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Moreau K, Puri C & Rubinsztein DC. Methods to analyze SNARE-dependent vesicular fusion events that regulate autophagosome biogenesis. Methods 75, 19–24 (2015).

Moreau P, Moreau K, Segarra A, Tourbiez D, Travers MA, Rubinsztein DC & Renault T. Autophagy plays an important role in protecting Pacific oysters from OsHV-1 and Vibrio aestuarianus infections. Autophagy 11, 516–526 (2015).

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Panagea T, Pincus DH, Grogono D, Jones M, Bryant J, Parkhill J, Floto RA & Gilligan P. Mycobacterium abscessus complex identification with matrix-assisted laser desorption ionization-time of flight mass spectrometry. J. Clin. Microbiol. 53, 2355–2358 (2015).

Park SJ et al. Heterogeneous nuclear ribonucleoprotein A1 post-transcriptionally regulates Drp1 expression in neuroblastoma cells. Biochim. Biophys. Acta 1849, 1423–1431 (2015).

Parkins MD & Floto RA. Emerging bacterial pathogens and changing concepts of bacterial pathogenesis in cystic fibrosis. J. Cyst. Fibros. 14, 293–304 (2015).

Parkinson MD, Piper SC, Bright NA, Evans JL, Boname JM, Bowers K, Lehner PJ & Luzio JP. A non-canonical ESCRT pathway, including histidine domain phosphotyrosine phosphatase (HD-PTP), is used for down-regulation of virally ubiquitinated MHC class I. Biochem J. 471, 79–88 (2015).

Radjabova V et al. TARM1 is a novel leukocyte receptor complex-encoded ITAM receptor that costimulates proinflammatory cytokine secretion by macrophages and neutrophils. J. Immunol. 195, 3149–3159 (2015).

Rainbow DB et al. Epigenetic analysis of regulatory T cells using multiplex bisulfite sequencing. Eur. J. Immunol. doi:10.1002/eji.201545646 (2015).

Rhodes DA, Chen HC, Price AJ, Keeble AH, Davey MS, James LC, Eberl M & Trowsdale J. Activation of human γδ T cells by cytosolic interactions of BTN3A1 with soluble phosphoantigens and the cytoskeletal adaptor periplakin. J. Immunol. 194, 2390–2398 (2015).

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Ritter AT, Asano Y, Stinchcombe JC, Dieckmann NM, Chen BC, Gawden-Bone C & Griffiths GM. Actin depletion initiates events leading to granule secretion at the immunological synapse. Immunity 42, 864–876 (2015).

Robinson MS. Forty years of clathrin-coated vesicles. Traffic doi:10.1111/tra.12335 (2015).

Rovelet-Lecrux A et al. De novo deleterious genetic variations target a biological network centered on Aβ peptide in early-onset Alzheimer disease. Mol. Psychiatry 20, 1046–1056 (2015).

Rubinsztein DC. Cell biology: receptors for selective recycling. Nature 522, 291–292 (2015).

Rubinsztein DC, Bento CF & Deretic V. Therapeutic targeting of autophagy in neurodegenerative and infectious diseases. J. Exp. Med. 212, 979–990 (2015).

Sali A et al. Outcome of the first wwPDB hybrid/integrative methods task force workshop. Structure 23, 1156–1167 (2015).

Schiebler M et al. Functional drug screening reveals anticonvulsants as enhancers of mTOR-independent autophagic killing of Mycobacterium tuberculosis through inositol depletion. EMBO Mol. Med. 7, 127–139 (2015).

Schmidts M et al. TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport. Nature Comm. 6, 7074 (2015).

Sekine Y, Zyryanova A, Crespillo-Casado A, Fischer PM, Harding HP & Ron D. Stress responses. Mutations in a translation initiation factor identify the target of a memory-enhancing compound. Science 348, 1027–1030 (2015).

Shaheen R et al. A founder CEP120 mutation in Jeune asphyxiating thoracic dystrophy expands the role of centriolar proteins in skeletal ciliopathies. Hum. Mol. Genet. 24, 1410–1419 (2015).

Sliwiak J, Dauter Z, Kowiel M, McCoy AJ, Read RJ & Jaskolski M. ANS complex of St John's wort PR-10 protein with 28 copies in the asymmetric unit: a fiendish combination of pseudosymmetry with tetartohedral twinning. Acta Crystallogr. D Biol. Crystallogr. 71, 829–843 (2015).

Sorrell SL, Golder ZJ, Johnstone DB & Karet Frankl FE. Renal peroxiredoxin 6 interacts with anion exchanger 1 and plays a novel role in pH homeostasis. Kidney Int. doi:10.1038/ki.2015.277 (2015).

Stewart AP, Sandford RN, Karet Frankl FE & Edwardson JM. Pathogenic uromodulin mutations result in premature intracellular polymerization. FEBS Lett. 589, 89–93 (2015).

Streeter A, Menzies FM & Rubinsztein DC. LC3-II tagging and western blotting for monitoring autophagic activity in mammalian cells. Methods Mol. Biol. 1303, 161–170 (2016).

Su Y, Al-Lamki RS, Blake-Palmer KG, Best A, Golder ZJ, Zhou A & Karet Frankl FE. Physical and functional links between anion exchanger-1 and sodium pump. J. Am. Soc. Nephrol. 26, 400–409 (2015).

Takatani R et al. Analysis of multiple families with single individuals affected by Pseudohypoparathyroidism Type Ib (PHP1B) reveals only one novel maternally inherited GNAS deletion. J. Bone Miner. Res. doi:10.1002/jbmr.2731 (2015).

Tan L et al. Characterising the association of latency with α(1)-antitrypsin polymerisation using a novel monoclonal antibody. Int. J. Biochem. Cell. Biol. 58, 81–91 (2015).

Tarlinton DM & Smith KG. How many memories does it take to make an SLE flare? Nature Immunol. 16, 685–687 (2015).

Taylor PN et al. Whole-genome sequence-based analysis of thyroid function. Nature Commun. 6, 5681 (2015).

Tchasovnikarova IA, Timms RT, Matheson NJ, Wals K, Antrobus R, Göttgens B & Lehner PJ. Gene silencing. Epigenetic silencing by the HUSH complex mediates position-effect variegation in human cells. Science 348, 1481–1485 (2015).

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Traherne JA, Jiang W, Valdes AM, Hollenbach JA, Jayaraman J, Lane JA, Johnson C, Trowsdale J & Noble JA. KIR haplotypes are associated with late-onset type 1 diabetes in European-American families. Genes Immun. doi:10.1038/gene.2015.44 (2015).

Trowsdale J, Jones DC, Barrow AD & Traherne JA. Surveillance of cell and tissue perturbation by receptors in the LRC. Immunol. Rev. 267, 117–136 (2015).

Tumbarello DA, Manna PT, Allen M, Bycroft M, Arden SD, Kendrick-Jones J & Buss F. The autophagy receptor TAX1BP1 and the molecular motor myosin VI are required for clearance of Salmonella Typhimurium by autophagy. PLoS Pathog. 11, e1005174 (2015).

van den Boomen DJ & Lehner PJ. Identifying the ERAD ubiquitin E3 ligases for viral and cellular targeting of MHC class I. Mol. Immunol. 68, 106–111 (2015).

van 't Wout EF, van Schadewijk A, van Boxtel R, Dalton LE, Clarke HJ, Tommassen J, Marciniak SJ & Hiemstra PS. Virulence factors of Pseudomonas aeruginosa induce both the unfolded protein and integrated stress responses in airway epithelial cells. PLoS Pathog. 11, e1004946 (2015).

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Vicinanza M, Korolchuk VI, Ashkenazi A, Puri C, Menzies FM, Clarke JH & Rubinsztein DC. PI(5)P regulates autophagosome biogenesis. Mol. Cell 57, 219–234 (2015).

Volmer R & Ron D. Lipid-dependent regulation of the unfolded protein response. Curr. Opin Cell Biol. 33, 67-73 (2015).

Vukcevic D et al. Imputation of KIR types from SNP variation data. Am. J. Hum. Genet. 97, 593–607 (2015).

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Wallace C et al. Dissection of a Complex Disease Susceptibility Region Using a Bayesian Stochastic Search Approach to Fine Mapping. PLoS Genet. 11, e1005272 (2015).

Walter K et al. The UK10K project identifies rare variants in health and disease. Nature 526, 82–89 (2015).

Wartosch L, Bright NA & Luzio JP. Quick Guide: lysosomes. Curr. Biol. 25, R315–R316 (2015).

Wartosch L, Günesdogan U, Graham SC & Luzio JP. Recruitment of VPS33A to HOPS by VPS16 is required for lysosome fusion with endosomes and autophagosomes. Traffic 16, 727–742 (2015).

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Wheway G et al. An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes. Nature Cell Biol. 17, 1074–1087 (2015).

Wilkinson GWG, Davison AJ, Tomasec P, Fielding CA, Aicheler R, Murrell I, Seirafian S, Wang ECY, Weekes M, Lehner PJ, Wilkie GS & Stanton RJ. Human cytomegalovirus: taking the strain. Med. Micro. Immunol. 204, 273–284 (2015).

Woods CG, Babiker MO, Horrocks I, Tolmie J & Kurth I. The phenotype of congenital insensitivity to pain due to the NaV1.9 variant p.L811P. Eur. J. Hum. Genet. 23, 561–563 (2015).

Yang JH et al. Natural variation in interleukin-2 sensitivity influences regulatory T-Cell frequency and function in individuals with long-standing type 1 diabetes. Diabetes 64, 3891–3902 (2015).

Zhang Y, Persson S, Hirst J, Robinson MS, van Damme D & Sánchez-Rodríguez C. Change your Tplate, change your fate: plant CME and beyond. Trends Plant Sci. 20, 41-48 (2015).

2014 papers:

Al Turki S, Manickaraj AK, Mercer CL, Gerety SS, Hitz MP, Lindsay S, D'Alessandro LC, Swaminathan GJ, Bentham J, Arndt AK, Low J, Breckpot J, Gewillig M, Thienpont B, Abdul-Khaliq H, Harnack C, Hoff K, Kramer HH, Schubert S, Siebert R, Toka O, Cosgrove C, Watkins H, Lucassen AM, O'Kelly IM, Salmon AP, Bu'lock FA, Granados-Riveron J, Setchfield K, Thornborough C, Brook JD, Mulder B, Klaassen S, Bhattacharya S, Devriendt K, Fitzpatrick DF, UK10KξConsortium, Wilson DI, Mital S, Hurles ME. Rare variants in NR2F2 cause congenital heart defects in humans. Am. J. Hum. Genet. 94, 574-585 (2014).

Ammann JU, Trowsdale J. Development and use of IgM/J-chain fusion proteins for characterization of immunoglobulin superfamily ligand-receptor interactions. Curr. Protoc. Protein Sci. 75, doi: 10.1002/0471140864.ps1924s75 (2014).

Antrobus R, Wakefield JG. Isolation, identification, and validation of microtubule-associated proteins from Drosophila embryos. Methods in Molecular Biology 273-291 (2014).

Arif, S., Leete, P., Nguyen, V., Marks, K., Nor, N. M., Estorninho, M., . . . Peakman, M. Blood and islet phenotypes indicate immunological heterogeneity in type 1 diabetes.. Diabetes, 63(11), 3835-3845 (2014).

Bashirova AA, Martin-Gayo E, Jones DC, Qi Y, Apps R, Gao X, Burke PS, Taylor CJ, Rogich J, Wolinsky S, Bream JH, Duggal P, Hussain S, Martinson J, Weintrob A, Kirk GD, Fellay J, Buchbinder SP, Goedert JJ, Deeks SG, Pereyra F, Trowsdale J, Lichterfeld M, Telenti A, Walker BD, Allen RL, Carrington M, Yu XG. LILRB2 interaction with HLA class I correlates with control of HIV-1 infection. PLoS Genet. 10, e1004196 (2014).

Behrens, M. A., Sendall, T. J., Pedersen, J. S., Kjeldgaard, M., Huntington, J. A., & Jensen, J. K. The shapes of z-a1-antitrypsin polymers in solution support the C-terminal domain-swap mechanism of polymerization.. Biophys J, 107(8), 1905-1912 (2014).

Bell, C. J., Sun, Y., Nowak, U. M., Clark, J., Howlett, S., Pekalski, M. L., . . . Peterson, L. B. Sustained in vivo signaling by long-lived IL-2 induces prolonged increases of regulatory T cells.. J Autoimmun. doi:10.1016/j.jaut.2014.10.002 (2014).

Bennett, D. L., & Woods, C. G. Painful and painless channelopathies. Lancet Neurol, 13(6), 587-599 (2014).

Béziat V, Traherne J, Malmberg JA, Ivarsson MA, Björkström NK, Retière C, Ljunggren HG, Michaëlsson J, Trowsdale J, Malmberg KJ. Tracing dynamic expansion of human NK-cell subsets by high-resolution analysis of KIR repertoires and cellular differentiation. Eur. J. Immunol. 10.1002/eji.201444464 (2014).

Bökers S, Urbat A, Daniel C, Amann K, Smith KG, Espéli M, Nitschke L. Siglec-G deficiency leads to more severe collagen-induced arthritis and earlier onset of lupus-like symptoms in MRL/lpr mice. J. Immunol. 192, 2994-3002 (2014).

Boname, J. M., Bloor, S., Wandel, M. P., Nathan, J. A., Antrobus, R., Dingwell, K. S., . . . Lehner, P. J. Cleavage by signal peptide peptidase is required for the degradation of selected tail-anchored proteins.. J Cell Biol, 205(6), 847-862 (2014).  

Borner GH, Hein MY, Hirst J, Edgar JR, Mann M, Robinson MS. Fractionation Profiling: a fast and versatile approach for mapping vesicle proteomes and protein-protein interactions. Mol. Biol. Cell pii: mbc.E14-07-1198 (2014).

Brandstaetter H, Kruppa AJ, Buss F. Huntingtin is required for ER-to-Golgi transport and for secretory vesicle fusion at the plasma membrane.  Dis Model Mech. 12, 1335-40 (2014).

Bras, J., Guerreiro, R., Darwent, L., Parkkinen, L., Ansorge, O., Escott-Price, V., . . . Hardy, J. Genetic analysis implicates APOE, SNCA and suggests lysosomal dysfunction in the etiology of dementia with Lewy bodies.. Hum Mol Genet, 23(23), 6139-6146 (2014).

Breusegem SY, Seaman MN. Image-based and biochemical assays to investigate endosomal protein sorting. Methods Enzymol. 534, 155-178 (2014).

Breusegem SY, Seaman MN. Genome-wide RNAi Screen Reveals a Role for Multipass Membrane Proteins in Endosome-to-Golgi Retrieval.Cell Rep.Dec 11;9(5):1931-45 (2014).

Buettner F, Moignard V, Göttgens B, Theis FJ. Probabilistic PCA of censored data: accounting for uncertainties in the visualization of high-throughput single-cell qPCR data. Bioinformatics doi: 10.1093/bioinformatics/btu134 (2014).

Bui T-H, Raymond FL, Van den Veyver IB. Current controversies in prenatal diagnosis 2: Should incidental findings arising from prenatal testing always be reported to patients? Prenatal Diagnosis 34, 12-17 (2014).

Burren OS, Guo H, Wallace C. VSEAMS: A pipeline for variant set enrichment analysis using summary GWAS data identifies IKZF3, BATF and ESRRA as key transcription factors in type 1 diabetes. arXiv:1404.4482 (2014).

Calero-Nieto FJ, Ng FS, Wilson NK, Hannah R, Moignard V, Leal-Cervantes AI, Jimenez-Madrid I, Diamanti E, Wernisch L, Göttgens B. Key regulators control distinct transcriptional programmes in blood progenitor and mast cells. EMBO J. 33, 1212-1226 (2014).

Chambers, J. E., & Marciniak, S. J. Cellular Mechanisms of Endoplasmic Reticulum Stress Signaling in Health and Disease. 2. Protein misfolding and ER stress.. Am J Physiol Cell Physiol, 307(8), C657-C670 (2014).

Chan, W. L., Zhou, A., & Read, R. J. Towards engineering hormone-binding globulins as drug delivery agents.. PLoS One, 9(11), e113402 (2014).

Chen, L., Kostadima, M., Martens, J. H., Canu, G., Garcia, S. P., Turro, E., . . . Rendon, A. Transcriptional diversity during lineage commitment of human blood progenitors.. Science, 345(6204), 1251033 (2014).

Clarke HJ, Chambers JE, Liniker E, Marciniak SJ. Endoplasmic Reticulum Stress in Malignancy. Cancer Cell 25, 563-573 (2014).

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