HGU Core Award Apr 12 - MAr 18

Research output

Research output per year 2013 2017 2019

• 47 Article
• 3 Paper
• 3 Review article
• 1 Conference contribution
• 1 More
  • 1 Poster

Research output per year

Research output per year

Search results

• 2019

  ITPase Deficiency Causes a Martsolf-Like Syndrome With a Lethal Infantile Dilated Cardiomyopathy

  Handley, M., Reddy, K., Wills, J., Rosser, E., Kamath, A., Halachev, M., Falkous, G., Williams, D., Cox, P., Meynert, A., Raymond, E., Morrison, H., Brown, S., Allan, E., Aligianis, I., Jackson, A. P., Ramsahoye, B. H., Von Kriegsheim, A., Taylor, R. W., Finch, A. J., & 1 othersFitzPatrick, D. R., 11 Mar 2019, (E-pub ahead of print) In: PLoS Genetics.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  File

• CRISPR screens identify genomic ribonucleotides as a source of PARP-trapping lesions

  Zimmermann, M., Murina, O., Reijns, M. A. M., Agathanggelou, A., Challis, R., Tarnauskaite, Z., Muir, M., Fluteau, A., Aregger, M., McEwan, A., Yuan, W., Clarke, M., Lambros, M. B., Paneesha, S., Moss, P., Chandrashekhar, M., Angers, S., Moffat, J., Brunton, V. G., Hart, T., & 4 othersde Bono, J., Stankovic, T., Jackson, A. P. & Durocher, D., 12 Jan 2019, In: Nature. 559, 7713, p. 285–289 9 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  File

  • Poly ADP Ribose Polymerase 100%
  • Ribonucleotide 100%
  • Lesion 100%
  • Polymerase 100%
  • PARP Inhibitor 36%
• 2018

  BRAF/MAPK and GSK3 signaling converge to control MITF nuclear export

  Ngeow, K. C., Friedrichsen, H. J., Li, L., Zeng, Z., Andrews, S., Volpon, L., Brunsdon, H., Berridge, G., Picaud, S., Fischer, R., Lisle, R., Knapp, S., Filippakopoulos, P., Knowles, H., Steingrimsson, E., Borden, K. L. B., Patton, E. & Goding, C. R., 11 Sept 2018, In: Proceedings of the National Academy of Sciences (PNAS).

  Research output: Contribution to journal › Article › peer-review

  Open Access

  File

• Mutations in TOP3A Cause a Bloom Syndrome-like Disorder

  GOSgene, Martin, C-A., Sarlós, K., Logan, C. V., Thakur, R. S., Parry, D. A., Bizard, A. H., Leitch, A., Cleal, L., Ali, N. S., Al-Owain, M. A., Allen, W., Altmüller, J., Aza-Carmona, M., Barakat, B. A. Y., Barraza-García, J., Begtrup, A., Bogliolo, M., Cho, M. T., Cruz-Rojo, J., & 31 othersDhahrabi, H. A. M., Elcioglu, N. H., Gorman, G. S., Jobling, R., Kesterton, I., Kishita, Y., Kohda, M., Le Quesne Stabej, P., Malallah, A. J., Nürnberg, P., Ohtake, A., Okazaki, Y., Pujol, R., Ramirez, M. J., Revah-Politi, A., Shimura, M., Stevens, P., Taylor, R. W., Turner, L., Williams, H., Wilson, C., Yigit, G., Zahavich, L., Alkuraya, F. S., Surralles, J., Iglesais, A., Murayama, K., Wollnik, B., Dattani, M., Heath, K. E. & Jackson, A. P., 2 Aug 2018, In: American Journal of Human Genetics.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  File

  • Mutation 100%
  • Bloom Syndrome 100%
  • Sister Chromatid Exchange 50%
  • Topoisomerase 50%
  • Growth 50%

• A reassessment of DNA-immunoprecipitation-based genomic profiling

  Lentini, A., Lagerwall, C., Vikingsson, S., Mjoseng, H. K., Douvlataniotis, K., Vogt, H., Green, H., Meehan, R. R., Benson, M. & Nestor, C. E., Jul 2018, In: Nature Methods.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  File

  • DNA 100%
  • Immunoprecipitation 100%
  • DNA Modification 80%
  • Sequencing 60%
  • Antibody 20%

• Defects in Meiotic Recombination Delay Progression Through Pachytene in Tex19.1-/- Mouse Spermatocytes

  Crichton, J., Read, D. & Adams, I. R., 16 Jun 2018, In: Chromosoma.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  File

  • Mouse 100%
  • Pachytene 100%
  • Meiotic Recombination 100%
  • Synapsis 50%
  • Chromosome 50%

• Polε Instability Drives Replication Stress, Abnormal Development, and Tumorigenesis

  Bellelli, R., Borel, V., Logan, C., Svendsen, J., Cox, D. E., Nye, E., Metcalfe, K., O'Connell, S. M., Stamp, G., Flynn, H. R., Snijders, A. P., Lassailly, F., Jackson, A. & Boulton, S. J., 17 May 2018, In: Molecular Cell. 70, 4, p. 707-721.e7

  Research output: Contribution to journal › Article › peer-review

  Open Access

  File

  • Carcinogenesis 100%
  • Instability 100%
  • Drive 100%
  • Developmental Disorder 100%
  • Protein P53 100%

• PRC1 fine-tunes gene repression and activation to safeguard skin development and stem cell specification

  Cohen, I., Zhao, D., Bar, C., Valdes, V. J., Dauber-Decker, K. L., Nguyen, M. B., Nakayama, M., Rendl, M., Bickmore, W., Koseki, H., Zheng, D. & Ezhkova, E., 3 May 2018, In: Cell Stem Cell.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  File

• Mosaic RAS/MAPK variants cause sporadic vascular malformations which respond to targeted therapy

  Al-Olabi, L., Polubothu, S., Dowsett, K., Andrews, K. A., Stadnik, P., Joseph, A. P., Knox, R., Pittman, A., Clark, G., Baird, W., Bulstrode, N., Glover, M., Gordon, K., Hargrave, D., Hudson, S., Jacques, T. S., James, G., Kondolf, H., Kangesu, L., Keppler-Noreuil, K. M., & 26 othersKhan, A., Lindhurst, M. J., Lipson, M., Mansour, S., O'Hara, J., Mahon, C., Mosica, A., Moss, C., Murthy, A., Ong, J., parker, V., Rivière, J-B., Sapp, J. C., Sebire, N. J., Shah, R., Sivakumar, B., Thomas, A., Virasami, A., Waelchli, R., Zeng, Z., Biesecker, L. G., Barnacle, A., Topf, M., Semple, R. K., Patton, E. E. & Kinsler, V. A., 2 Apr 2018, In: Journal of Clinical Investigation. 128, 4, p. 1496-1508 13 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  File

  • Mosaicism 100%
  • Mitogen-Activated Protein Kinase 100%
  • Vascular Anomaly 100%
  • Arteriovenous Malformation 100%
  • Targeted Therapy 100%

• The expanding phenotype of RNU4ATAC pathogenic variants to Lowry Wood syndrome

  Farach, L. S., Little, M. E., Duker, A. L., Logan, C. V., Jackson, A., Hecht, J. T. & Bober, M., Feb 2018, In: The American Journal of Medical Genetics - Part A (AJMG). 176, 2

  Research output: Contribution to journal › Article › peer-review

  • Syndrome 100%
  • Phenotype 100%
  • Microcephaly 66%
  • Dysplasia 50%
  • Bone Dysplasia 33%

• Genome-wide Meta-analysis Unravels Novel Interactions between Magnesium Homeostasis and Metabolic Phenotypes

  Corre, T., Arjona, F. J., Hayward, C., Youhanna, S., de Baaij, J., Belge, H., Nagele, N., Debaix, H., Blanchard, M. G., Traglia, M., Harris, S., Ulivi, S., Rueedi, R., Lamparter, D., Mace, A., Sala, C., Lenarduzzi, S., Ponte, B., Pruijm, M., Ackermann, D., & 21 othersEhret, G., Baptista, D., Polasek, O., Rudan, I., Hurd, T. W., Hastie, N. D., Vitart, V., Waeber, G., Kutalik, Z., Bergmann, S., Vargas-Poussou, R., Konrad, M., Gasparini, P., Deary, I., Starr, J., Toniolo, D., Vollenweider, P., Hoenderop, J. G. J., Bindels, R. J. M., Bochud, M. & Devuyst, O., Jan 2018, In: Journal of the American Society of Nephrology.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  File

  • Magnesium 100%
  • Phenotype 100%
  • Homeostasis 100%
  • Magnesium Urine Level 75%
  • TRPM6 50%
• 2017

  Bidirectional transcription initiation marks accessible chromatin and is not specific to enhancers

  Young, R. S., Kumar, Y., Bickmore, W. A. & Taylor, M. S., 28 Dec 2017, In: Genome Biology. 18, 11 p., 242.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  File

  • Enhancer Region 100%
  • Transcription Initiation 100%
  • Chromatin 100%
  • Transcription 23%
  • Histone Modification 7%

• eHistology image and annotation data from the Kaufman Atlas of Mouse Development

  Baldock, R. A. & Armit, C., 20 Dec 2017, (E-pub ahead of print) In: GigaScience.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  File

  • Annotation 100%
  • Histological Image 50%
  • Standards 50%
  • Automated Analysis 25%
  • De Facto Standard 25%

• A Mechanism of Cohesin-Dependent Loop Extrusion Organizes Zygotic Genome Architecture

  Gassler, J., Brandao, H. B., Imakaev, M., Flyamer, I. M., Ladstatter, S., Bickmore, W., Peters, J-M., Mirny, L. A. & Tachibana, K., 15 Dec 2017, In: EMBO Journal.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  File

• Glucocorticoid receptor binding induces rapid and prolonged large-scale chromatin decompaction at multiple target loci

  Jubb, A. W., Boyle, S., Hume, D. & Bickmore, W., 12 Dec 2017, In: Cell Reports. 21, 11, p. 3022-3031

  Research output: Contribution to journal › Article › peer-review

  Open Access

  File

  • Glucocorticoid Receptor 100%
  • Chromatin 100%
  • Receptor Binding 100%
  • Glucocorticoid 100%
  • Macrophage 50%

• Defining baseline epigenetic landscapes in the rat liver

  Thomson, J., Ottaviano, R., Buesen, R., Moggs, J., Schwarz, M. & Meehan, R., 9 Dec 2017, In: Epigenomics.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  File

• Aberrant ribonucleotide incorporation and multiple deletions in mitochondrial DNA of the murine MPV17 disease model

  Moss, C. F., Dalla Rosa, I., Hunt, L. E., Yasukawa, T., Young, R., Jones, A. W. E., Reddy, K., Desai, R., Virtue, S., Elgar, G., Voshol, P., Taylor, M. S., Holt, I. J., Reijns, M. A. M. & Spinazzola, A., 2 Nov 2017, In: Nucleic Acids Research.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  File

  • Mitochondrial DNA 100%
  • Ribonucleotide 100%
  • Cell Culture 33%
  • Mouse 16%
  • Solid 16%

• RNA polymerase II stalling at pre-mRNA splice sites is enforced by ubiquitination of the catalytic subunit

  Milligan, L., Sayou, C., Tuck, A., Auchynnikava, T., Reid, J. E. A., Alexander, R., Alves, F. D. L., Allshire, R., Spanos, C., Rappsilber, J., Beggs, J. D., Kudla, G. & Tollervey, D., 13 Oct 2017, In: eLIFE. 6, 27 p., e27082.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  File

  • Ubiquitination 100%
  • Enzyme Active Site 100%
  • Messenger RNA 100%
  • RNA Polymerase II 100%
  • RNA Processing 66%

• Expression of Progerin does not result in an increased mutation rate.

  Deniaud, E., Lemaitre, C., Boyle, S. & Bickmore, W., Oct 2017, In: Chromosome Research.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  File

  • Lamin A 100%
  • DNA Damage Response 100%
  • Cells 100%
  • Syndrome 100%
  • DNA Damage 100%

• N6-methyladenosine demethylase FTO targets pre-mRNAs and regulates alternative splicing and 3′-end processing

  Bartosovic, M., Molares, H. C., Gregorova, P., Hrossova, D., Kudla, G. & Vanacova, S., 30 Aug 2017, In: Nucleic Acids Research.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  File

• cGAS surveillance of micronuclei links genome instability to innate immunity

  Mackenzie, K. J., Carroll, P., Martin, C-A., Murina, O., Fluteau, A., Simpson, D. J., Olova, N., Sutcliffe, H., Rainger, J. K., Leitch, A., Osborn, R. T., Wheeler, A. P., Nowotny, M., Gilbert, N., Chandra, T., Reijns, M. A. M. & Jackson, A. P., 24 Aug 2017, In: Nature. 548, 7668, p. 461–465 5 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  File

  • Innate Immunity 100%
  • Synthase 100%
  • Genome Instability 100%
  • Genomic Instability 100%
  • Micronucleus 100%

• Loss of the chromatin modifier Kdm2aa causes BrafV600E-independent spontaneous melanoma in zebrafish

  Scahill, C. M., Digby, Z., Sealy, I. M., Wojciechowska, S., White, R. J., Collins, J. E., Stemple, D. L., Bartke, T., Mathers, M. E., Patton, E. E. & Busch-Nentwich, E. M., 14 Aug 2017, In: PLoS Genetics. 13, 8, p. e1006959

  Research output: Contribution to journal › Article › peer-review

  Open Access

  File

  • Chromatin 100%
  • Zebra Fish 100%
  • Mutant 100%
  • Fish 100%
  • Mutation 50%

• Mobilization of LINE-1 Retrotransposons is Restricted by Tex19.1 in Mouse Embryonic Stem Cells

  Maclennan, M., Garcia-Cañadas, M., Reichmann, J., Khazina, E., Wagner, G., Playfoot, C. J., Salvador-Palomeque, C., Mann, A., Peressini, P., Sanchez, L., Thomas (nee Dobie), K., Read, D., Hung, C-C., Eskeland, R., Meehan, R. R., Weichenrieder, O., García-Pérez, J. L. & Adams, I. R., 14 Aug 2017, In: eLIFE. 6, 32 p., e26152.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Mouse 100%
  • Embryonic Stem Cell 100%
  • Retrotransposon 100%
  • Protein 40%
  • Human 20%

• The conserved sonic hedgehog limb enhancer consists of discrete functional elements that regulate precise spatial expression

  Lettice, L. A., Devenney, P. S., De Angelis, C. & Hill, R. E., 8 Aug 2017, In: Cell Reports. 20, 6, p. 1396-1408 13 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  File

  • Enhancer Region 100%
  • Sonic Hedgehog 100%
  • Binding Site 40%
  • Mouse 20%
  • Repressor 20%

• Tex19.1 Promotes Spo11-Dependent Meiotic Recombination in Mouse Spermatocytes

  Crichton, J., Playfoot, C., Maclennan, M., Read, D., Cooke, H. & Adams, I. R., 14 Jul 2017, In: PLoS Genetics. p. e1006904

  Research output: Contribution to journal › Article › peer-review

  Open Access

  File

  • Mouse 100%
  • Spo11 100%
  • Meiotic Recombination 100%
  • Chromosome 50%
  • Mutation 25%

• Overcoming Intratumoural Heterogeneity for Reproducible Molecular Risk Stratification: A Case Study in Advanced Kidney Cancer

  Lubbock, A., Stewart, G., O'Mahony, F., Laird, A., Mullen, P., O'Donnell, M., Powles, T., Harrison, D. J. & Overton, I., 26 Jun 2017, In: BMC Medicine.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  File

  • Risk Stratification 100%
  • Kidney Cancer 100%
  • Mammalian Target of Rapamycin 100%
  • Nerve Cell Adhesion Molecule 50%
  • Age 50%

• Decoupling of DNA methylation and activity of intergenic LINE-1 promoters in colorectal cancer

  Vafadar-Isfahani, N., Parr, C., McMillan, L. E., Sanner, J., Yeo, Z., Saddington, S., Peacock, O., Cruickshanks, H. A., Meehan, R. R., Lund, J. N. & Tufarelli, C., 3 Jun 2017, In: Epigenetics.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  File

  • Promoter Region 100%
  • DNA Methylation 100%
  • Decoupling 100%
  • Methylation 75%
  • Histone Modification 25%

• Genetic variation and RNA structure regulate microRNA biogenesis

  Fernandez, N., Cordiner, R. A., Young, R. S., Hug, N., Macias, S. & Cáceres, J. F., 3 May 2017, In: Nature Communications. 8, 12 p., 15114.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  File

  • Mutation 100%
  • MicroRNA 100%
  • Biogenesis 100%
  • RNA Structure 100%
  • microRNA 60%

• Psip1/p52 regulates posterior Hoxa genes through activation of lncRNA Hottip

  Pradeepa, M. M., McKenna, F., Taylor, G. C. A., Bengani, H., Grimes, G. R., Wood, A. J., Bhatia, S. & Bickmore, W. A., 6 Apr 2017, In: PLoS Genetics. 13, 4, 18 p., e1006677.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  File

  • Long Noncoding RNA 100%
  • Nested Gene 100%
  • Transcription 28%
  • Regulatory Mechanism 28%
  • Molecule 28%

• KDM3A coordinates actin dynamics with intraflagellar transport to regulate cilia stability

  Yeyati, P. L., Schiller, R., Mali, G., Kasioulis, I., Kawamura, A., Adams, I. R., Playfoot, C., Gilbert, N., van Heyningen, V., Wills, J., von Kriegsheim, A., Finch, A., Sakai, J., Schofield, C. J., Jackson, I. J. & Mill, P., 3 Apr 2017, In: Journal of Cell Biology. 216, 4, p. 999-1013 15 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  File

  • Cilium 100%
  • Dynamics 100%
  • Intraflagellar Transport 100%
  • Actin 100%
  • Mutant 25%

• Mutations in DONSON disrupt replication fork stability and cause microcephalic dwarfism

  Reynolds, J., Bicknell, L. S., Carroll, P., Higgs, M. R., Shaheen, R., Murray, J. E., Papadopoulos, D. K., Leitch, A., Murina, O., Tarnauskaite, Z., Wessel, S. R., Zlatanou, A., Vernet, A., von Kriegsheim, A., Mottram, R. M. A., Logan, C. V., Bye, H., Li, Y., Brean, A., Maddirevula, S., & 41 othersChallis, R. C., Skouloudaki, K., Almoisheer, A., Alsaif, H. S., Amar, A., Prescott, N. J., Bober, M., Duker, A., Faqeih, E., Seidahmed, M. Z., Tala, S. A., Alswaid, A., Ahmed, S., Al-Aama, J. Y., Altmuller, J., Al Balwi, M., Brady, A. F., Chessa, L., Cox, H., Fischetto, R., Heller, R., Henderson, B. D., Hobson, E., Nurnberg, P., Percin, E. F., Peron, A., Spaccini, L., Quigley, A. J., Thakur, S., Wise, C. A., Yoon, G., Alnemer, M., Yigit, G., Taylor, A. M. R., Reijns, M. A. M., Simpson, M. A., Cortez, D., Alkuraya, F. S., Mathew, C. G., Jackson, A. P. & Stewart, G. S., Apr 2017, In: Nature Genetics. 49, 4, p. 537–549 13 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  File

  • Mutation 100%
  • DNA Replication 75%
  • Protein 50%
  • Phenotype 25%
  • Replisome 25%

• Resequencing at scale in neurodevelopmental disorders

  FitzPatrick, D. R., 30 Mar 2017, In: Nature Genetics. 49, 4, p. 488-489 2 p.

  Research output: Contribution to journal › Review article › peer-review

  Open Access

  File

  • Mutation 100%
  • Sample 100%
  • DNA 100%
  • Candidate Gene 100%
  • Spectrum 100%

• Quantitative Shotgun Proteomics Unveils Candidate Novel Esophageal Adenocarcinoma (EAC)-specific Proteins

  O'neill, J. R., Pak, H., Pairo-castineira, E., Save, V., Paterson-brown, S., Nenutil, R., Vojtěšek, B., Overton, I., Scherl, A. & Hupp, T. R., 23 Mar 2017, In: Molecular & Cellular Proteomics (MCP). 16, 6, p. 1138-1150 13 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  File

  • Shotgun Proteomics 100%
  • Esophageal Adenocarcinoma 100%
  • Protein 100%
  • Patient 80%
  • Sample 80%

• The ‘straight mouse’: defining anatomical axes in 3D embryo models

  Armit, C., Hill, B., Venkataraman, S., Mcleod, K., Burger, A. & Baldock, R., 11 Mar 2017, In: Database: The Journal of Biological Databases and Curation. 2017, 1, bax010.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  File

  • Gene Expression 100%
  • Tenidap 66%
  • Mouse Embryo 66%
  • Analysis 66%
  • Fibroblast Growth Factor 33%

• eMouseAtlas:an atlas-based resource for understanding mammalian embryogenesis

  Armit, C., Richardson, L., Venkataraman, S., Graham, L., Burton, N., Hill, B., Yang, Y. & Baldock, R., 1 Mar 2017, In: Developmental Biology.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  File

  • Atlas 100%
  • Embryo Development 100%
  • Gene Expression 100%
  • Database 71%
  • Models 42%

• Prevalence and architecture of de novo mutations in developmental disorders

  Deciphering Developmental Disorders Study, 23 Feb 2017, In: Nature. 542, 7642, p. 433-438 6 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  File

  • Mutation 100%
  • Prevalence 100%
  • Parental Age 28%
  • Nested Gene 28%
  • Birth 14%

• SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome

  Shaw, N. D., Brand, H., Kupchinsky, Z. A., Bengani, H., Plummer, L., Jones, T. I., Erdin, S., Williamson, K. A., Rainger, J., Stortchevoi, A., Samocha, K., Currall, B. B., Dunican, D. S., Collins, R. L., Willer, J. R., Lek, A., Lek, M., Nassan, M., Pereira, S., Kammin, T., & 58 othersLucente, D., Silva, A., Seabra, C. M., Chiang, C., An, Y., Ansari, M., Rainger, J. K., Joss, S., Smith, J. C., Lippincott, M. F., Singh, S. S., Patel, N., Jing, J. W., Law, J. R., Ferraro, N., Verloes, A., Rauch, A., Steindl, K., Zweier, M., Scheer, I., Sato, D., Okamoto, N., Jacobsen, C., Tryggestad, J., Chernausek, S., Schimmenti, L. A., Brasseur, B., Cesaretti, C., García-Ortiz, J. E., Buitrago, T. P., Silva, O. P., Hoffman, J. D., Mühlbauer, W., Ruprecht, K. W., Loeys, B. L., Shino, M., Kaindl, A. M., Cho, C-H., Morton, C. C., Meehan, R. R., van Heyningen, V., Liao, E. C., Balasubramanian, R., Hall, J. E., Seminara, S. B., Macarthur, D., Moore, S. A., Yoshiura, K., Gusella, J. F., Marsh, J. A., Graham Jr, J. M., Lin, A. E., Katsanis, N., Jones, P. L., Crowley Jr, W. F., Davis, E. E., FitzPatrick, D. R. & Talkowski, M. E., Feb 2017, In: Nature Genetics. 49, 2, p. 238-248 11 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  File

  • Mutation 100%
  • Protein 50%
  • Proband 50%
  • Messenger RNA 25%
  • Zebra Fish 25%

• Compound heterozygous variants in NBAS as a cause of atypical osteogenesis imperfecta.

  DDD Study, Jan 2017, In: Bone. 94, p. 65-74 10 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  File

  • Bone Development 100%
  • Bone Fragility 100%
  • Phenotype 60%
  • Body Height 40%
  • Allele 40%

• Repo-Man/PP1 regulates heterochromatin formation in interphase

  de Castro, I. J., Budzak, J., Giacinto, M. L., Ligammari, L., Gokhan, E., Spanos, C., Moralli, D., Richardson, C., de las Heras, J., Salatino, S., Schirmer, E., Ullman, K., Bickmore, W., Green, C., Rappsilber, J., Lamble, S., Goldberg, M. W., Vinciotti, V. & Vagnarelli, P., 2017, In: Nature Communications. 8, 15 p., 14048.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  File

  • Heterochromatin 100%
  • Protein Phosphatase 1 100%
  • Interphase 100%
  • Chromatin 50%
  • Epigenetics 25%
• 2016

  Type I interferon causes thrombotic microangiopathy by a dose-dependent toxic effect on the microvasculature

  Kavanagh, D., McGlasson, S., Jury, A., Williams, J., Scolding, N., Bellamy, C., Gunther, C., Ritchie, D., Gale, D. P., Kanwar, Y. S., Challis, R., Buist, H., Overell, J., Weller, B., Flossmann, O., Blunden, M., Meyer, E. P., Krucker, T., Evans, S. J. W., Campbell, I. L., & 3 othersJackson, A. P., Chandran, S. & Hunt, D. P. J., 15 Dec 2016, In: Blood. 128, 24, p. 2824–2833 10 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  File

  • Toxicity 100%
  • Thrombotic Thrombocytopenic Purpura 100%
  • Microvessel 100%
  • Dose 100%
  • Interferon Type I 100%

• The application of genome-wide 5-hydroxymethylcytosine studies in cancer research

  Thomson, J. P. & Meehan, R. R., 12 Dec 2016, In: Epigenomics.

  Research output: Contribution to journal › Review article › peer-review

  Open Access

  File

  • Cancer Research 100%
  • Malignant Neoplasm 100%
  • 5 Hydroxymethylcytosine 100%
  • 5-Hydroxymethylcytosine 100%
  • Epigenomics 66%

• SBE6, a novel long-range enhancer involved in driving Sonic Hedgehog expression in neural progenitor cells

  Benabdallah, N., Gautier, P., Hekimoglu-Balkan, B., Lettice, L., Bhatia, S. & Bickmore, W. A., 16 Nov 2016, In: Open Biology.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  File

  • Enhancer Region 100%
  • Brain 100%
  • Sonic Hedgehog 100%
  • Gene 62%
  • Gene Expression 37%

• The impact of transposable elements on mammalian development

  Garcia-Perez, J. L., Widmann, T. J. & Adams, I. R., 15 Nov 2016, In: Development. 143, 22, p. 4101-4114 14 p.

  Research output: Contribution to journal › Review article › peer-review

  Open Access

  File

  • Development 100%
  • Transposable Element 100%
  • Mutation 28%
  • Evolution 28%
  • Gene Regulatory Network 28%

• Polycomb enables primitive endoderm lineage priming in embryonic stem cells

  Illingworth, R. S., Hölzenspies, J. J., Roske, F. V., Bickmore, W. A. & Brickman, J. M., 10 Oct 2016, In: eLIFE. 5

  Research output: Contribution to journal › Article › peer-review

  Open Access

  File

  • Tenidap 100%
  • Endoderm 100%
  • Embryonic Stem Cell 100%
  • Transcription 75%
  • Precursor 50%

• Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing

  INTERVAL Study, Sifrim, A., Hitz, M-P., Wilsdon, A., Breckpot, J., Turki, S. H. A., Thienpont, B., McRae, J., Fitzgerald, T. W., Singh, T., Swaminathan, G. J., Prigmore, E., Rajan, D., Abdul-Khaliq, H., Banka, S., Bauer, U. M. M., Bentham, J., Berger, F., Bhattacharya, S., Bu'Lock, F., & 31 othersCanham, N., Colgiu, I-G., Cosgrove, C., Cox, H., Daehnert, I., Daly, A., Danesh, J., Fryer, A., Gewillig, M., Hobson, E., Hoff, K., Homfray, T., Kahlert, A-K., Ketley, A., Kramer, H-H., Lachlan, K., Lampe, A. K., Louw, J. J., Manickara, A. K., Manase, D., McCarthy, K. P., Metcalfe, K., Moore, C., Newbury-Ecob, R., Omer, S. O., Ouwehand, W. H., Park, S-M., Parker, M. J., Pickardt, T., Pollard, M. O. & FitzPatrick, D. R., Sept 2016, In: Nature Genetics. 48, 9, p. 1060-5 6 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  File

  • Exome Sequencing 100%
  • Protein 100%
  • Genetic Architecture 100%
  • Mutation 50%
  • Nested Gene 50%

• Novel gene function revealed by mouse mutagenesis screens for models of age-related disease

  Potter, P. K., Bowl, M. R., Jeyarajan, P., Wisby, L., Blease, A., Goldsworthy, M. E., Simon, M. M., Greenaway, S., Michel, V., Barnard, A., Aguilar, C., Agnew, T., Banks, G., Blake, A., Chessum, L., Dorning, J., Falcone, S., Goosey, L., Harris, S., Haynes, A., & 33 othersHeise, I., Hillier, R., Hough, T., Hoslin, A., Hutchison, M., King, R., Kumar, S., Lad, H. V., Law, G., MacLaren, R. E., Morse, S., Nicol, T., Parker, A., Pickford, K., Sethi, S., Starbuck, B., Stelma, F., Cheeseman, M., Cross, S. H., Foster, R. G., Jackson, I. J., Peirson, S. N., Thakker, R. V., Vincent, T., Scudamore, C., Wells, S., El-Amraoui, A., Petit, C., Acevedo-Arozena, A., Nolan, P. M., Cox, R., Mallon, A-M. & Brown, S. D. M., 18 Aug 2016, (E-pub ahead of print) In: Nature Communications. 7, 12444.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  File

  • Mouse 100%
  • Phenotype 100%
  • Gene Function 100%
  • Age 100%
  • Mutagenesis 100%
• 2014

  Detecting epistasis in human complex traits

  Wei, W-H., Hemani, G. & Haley, C. S., 9 Sept 2014, In: Nature Reviews Genetics. 15, 11, p. 722-733

  Research output: Contribution to journal › Article › peer-review

  • Epistasis 100%
  • Genome-Wide Association Study 40%
  • Single-Nucleotide Polymorphism 40%
  • Human 20%
  • Electric Potential 20%

• Fucci2a: A bicistronic cell cycle reporter that allows Cre mediated tissue specific expression in mice

  Mort, R. L., Ford, M. J., Sakaue-Sawano, A., Lindstrom, N. O., Casadio, A., Douglas, A. T., Keighren, M. A., Hohenstein, P., Miyawaki, A. & Jackson, I. J., 1 Sept 2014, In: Cell Cycle. 13, 17, p. 2681-2696 16 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  File

  • Mouse 100%
  • Cell Cycle 100%
  • Tissues 100%
  • Probe 75%
  • Mouse Model 37%

• Genomic prediction of health traits in humans: demonstrating the value of marker selection.

  Bermingham, M., Pong-Wong, R., Spiliopoulou, A., Hayward, C., Rudan, I., Campbell, H., Wright, A., Wilson, J., Agakov, F., Navarro, P. & Haley, C., 17 Aug 2014.

  Research output: Contribution to conference › Paper › peer-review

  Open Access

  File

  • Body Mass 100%
  • Human 100%
  • Single Nucleotide Polymorphism 100%
  • Accuracy 100%
  • Height 100%

• Combining different sources of information to optimise genomic prediction of complex traits

  Spiliopoulou, A., Nagy, R., Huffman, J. E., Bermingham, M., Hayward, C., Rudan, I., Campbell, H., Wright, A., Wilson, J., Pong-Wong, R., Haley, C., Agakov, F. & Navarro, P., 1 Jun 2014.

  Research output: Contribution to conference › Poster › peer-review

  • Models 100%
  • Genomics 100%
  • Prediction Accuracy 33%
  • Sample 33%
  • Accuracy 33%