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Refinado por: assunto: Multidisciplinary Sciences remover
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1
Mutational signature in colorectal cancer caused by genotoxic pks + E. coli
Mutational signature in colorectal cancer caused by genotoxic pks + E. coli
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Mutational signature in colorectal cancer caused by genotoxic pks + E. coli

Pleguezuelos-Manzano, Cayetano ; Puschhof, Jens ; Rosendahl Huber, Axel ; van Hoeck, Arne ; Wood, Henry M ; Nomburg, Jason ; Gurjao, Carino ; Manders, Freek ; Dalmasso, Guillaume ; Stege, Paul B ; Paganelli, Fernanda L ; Geurts, Maarten H ; Beumer, Joep ; Mizutani, Tomohiro ; Miao, Yi ; van der Linden, Reinier ; van der Elst, Stefan ; Garcia, K Christopher ; Top, Janetta ; Willems, Rob J L ; Giannakis, Marios ; Bonnet, Richard ; Quirke, Phil ; Meyerson, Matthew ; Cuppen, Edwin ; van Boxtel, Ruben ; Clevers, Hans

Nature (London), 2020-04, Vol.580 (7802), p.269-273 [Periódico revisado por pares]

England: Nature Publishing Group

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2
Substitution mutational signatures in whole-genome-sequenced cancers in the UK population
Substitution mutational signatures in whole-genome-sequenced cancers in the UK population
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Substitution mutational signatures in whole-genome-sequenced cancers in the UK population

Degasperi, Andrea ; Zou, Xueqing ; Amarante, Tauanne Dias ; Martinez-Martinez, Andrea ; Koh, Gene Ching Chiek ; Dias, João M L ; Heskin, Laura ; Chmelova, Lucia ; Rinaldi, Giuseppe ; Wang, Valerie Ya Wen ; Nanda, Arjun S ; Bernstein, Aaron ; Momen, Sophie E ; Young, Jamie ; Perez-Gil, Daniel ; Memari, Yasin ; Badja, Cherif ; Shooter, Scott ; Czarnecki, Jan ; Brown, Matthew A ; Davies, Helen R ; Nik-Zainal, Serena

Science (American Association for the Advancement of Science), 2022-04, Vol.376 (6591) [Periódico revisado por pares]

United States: The American Association for the Advancement of Science

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3
Nuclear-mitochondrial DNA segments resemble paternally inherited mitochondrial DNA in humans
Nuclear-mitochondrial DNA segments resemble paternally inherited mitochondrial DNA in humans
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Nuclear-mitochondrial DNA segments resemble paternally inherited mitochondrial DNA in humans

Wei, Wei ; Pagnamenta, Alistair T ; Gleadall, Nicholas ; Sanchis-Juan, Alba ; Stephens, Jonathan ; Broxholme, John ; Tuna, Salih ; Odhams, Christopher A ; Fratter, Carl ; Turro, Ernest ; Caulfield, Mark J ; Taylor, Jenny C ; Rahman, Shamima ; Chinnery, Patrick F

Nature communications, 2020-04, Vol.11 (1), p.1740-1740, Article 1740 [Periódico revisado por pares]

England: Nature Publishing Group

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4
Comparison of in silico strategies to prioritize rare genomic variants impacting RNA splicing for the diagnosis of genomic disorders
Comparison of in silico strategies to prioritize rare genomic variants impacting RNA splicing for the diagnosis of genomic disorders
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Comparison of in silico strategies to prioritize rare genomic variants impacting RNA splicing for the diagnosis of genomic disorders

Rowlands, Charlie ; Thomas, Huw B ; Lord, Jenny ; Wai, Htoo A ; Arno, Gavin ; Beaman, Glenda ; Sergouniotis, Panagiotis ; Gomes-Silva, Beatriz ; Campbell, Christopher ; Gossan, Nicole ; Hardcastle, Claire ; Webb, Kevin ; O'Callaghan, Christopher ; Hirst, Robert A ; Ramsden, Simon ; Jones, Elizabeth ; Clayton-Smith, Jill ; Webster, Andrew R ; Douglas, Andrew G L ; O'Keefe, Raymond T ; Newman, William G ; Baralle, Diana ; Black, Graeme C M ; Ellingford, Jamie M

Scientific reports, 2021-10, Vol.11 (1), p.20607-20607, Article 20607 [Periódico revisado por pares]

England: Nature Publishing Group

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5
The inner junction protein CFAP20 functions in motile and non-motile cilia and is critical for vision
The inner junction protein CFAP20 functions in motile and non-motile cilia and is critical for vision
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The inner junction protein CFAP20 functions in motile and non-motile cilia and is critical for vision

Chrystal, Paul W ; Lambacher, Nils J ; Doucette, Lance P ; Bellingham, James ; Schiff, Elena R ; Noel, Nicole C L ; Li, Chunmei ; Tsiropoulou, Sofia ; Casey, Geoffrey A ; Zhai, Yi ; Nadolski, Nathan J ; Majumder, Mohammed H ; Tagoe, Julia ; D'Esposito, Fabiana ; Cordeiro, Maria Francesca ; Downes, Susan ; Clayton-Smith, Jill ; Ellingford, Jamie ; Mahroo, Omar A ; Hocking, Jennifer C ; Cheetham, Michael E ; Webster, Andrew R ; Jansen, Gert ; Blacque, Oliver E ; Allison, W Ted ; Au, Ping Yee Billie ; MacDonald, Ian M ; Arno, Gavin ; Leroux, Michel R

Nature communications, 2022-11, Vol.13 (1), p.6595-6595, Article 6595 [Periódico revisado por pares]

England: Nature Publishing Group

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6
Gain and loss of function variants in EZH1 disrupt neurogenesis and cause dominant and recessive neurodevelopmental disorders
Gain and loss of function variants in EZH1 disrupt neurogenesis and cause dominant and recessive neurodevelopmental disorders
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Gain and loss of function variants in EZH1 disrupt neurogenesis and cause dominant and recessive neurodevelopmental disorders

Gracia-Diaz, Carolina ; Zhou, Yijing ; Yang, Qian ; Maroofian, Reza ; Espana-Bonilla, Paula ; Lee, Chul-Hwan ; Zhang, Shuo ; Padilla, Natàlia ; Fueyo, Raquel ; Waxman, Elisa A ; Lei, Sunyimeng ; Otrimski, Garrett ; Li, Dong ; Sheppard, Sarah E ; Mark, Paul ; Harr, Margaret H ; Hakonarson, Hakon ; Rodan, Lance ; Jackson, Adam ; Vasudevan, Pradeep ; Powel, Corrina ; Mohammed, Shehla ; Maddirevula, Sateesh ; Alzaidan, Hamad ; Faqeih, Eissa A ; Efthymiou, Stephanie ; Turchetti, Valentina ; Rahman, Fatima ; Maqbool, Shazia ; Salpietro, Vincenzo ; Ibrahim, Shahnaz H ; di Rosa, Gabriella ; Houlden, Henry ; Alharbi, Maha Nasser ; Al-Sannaa, Nouriya Abbas ; Bauer, Peter ; Zifarelli, Giovanni ; Estaras, Conchi ; Hurst, Anna C E ; Thompson, Michelle L ; Chassevent, Anna ; Smith-Hicks, Constance L ; de la Cruz, Xavier ; Holtz, Alexander M ; Elloumi, Houda Zghal ; Hajianpour, M J ; Rieubland, Claudine ; Braun, Dominique ; Banka, Siddharth ; French, Deborah L ; Heller, Elizabeth A ; Saade, Murielle ; Song, Hongjun ; Ming, Guo-Li ; Alkuraya, Fowzan S ; Agrawal, Pankaj B ; Reinberg, Danny ; Bhoj, Elizabeth J ; Martínez-Balbás, Marian A ; Akizu, Naiara

Nature communications, 2023-07, Vol.14 (1), p.4109-4109, Article 4109 [Periódico revisado por pares]

England: Nature Publishing Group

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7
Specialist multidisciplinary input maximises rare disease diagnoses from whole genome sequencing
Specialist multidisciplinary input maximises rare disease diagnoses from whole genome sequencing
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Specialist multidisciplinary input maximises rare disease diagnoses from whole genome sequencing

Macken, William L ; Falabella, Micol ; McKittrick, Caroline ; Pizzamiglio, Chiara ; Ellmers, Rebecca ; Eggleton, Kelly ; Woodward, Cathy E ; Patel, Yogen ; Labrum, Robyn ; Phadke, Rahul ; Reilly, Mary M ; DeVile, Catherine ; Sarkozy, Anna ; Footitt, Emma ; Davison, James ; Rahman, Shamima ; Houlden, Henry ; Bugiardini, Enrico ; Quinlivan, Rosaline ; Hanna, Michael G ; Vandrovcova, Jana ; Pitceathly, Robert D S

Nature communications, 2022-11, Vol.13 (1), p.6324-6324, Article 6324 [Periódico revisado por pares]

England: Nature Publishing Group

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8
Genotype-phenotype correlations for COL4A3-COL4A5 variants resulting in Gly substitutions in Alport syndrome
Genotype-phenotype correlations for COL4A3-COL4A5 variants resulting in Gly substitutions in Alport syndrome
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Genotype-phenotype correlations for COL4A3-COL4A5 variants resulting in Gly substitutions in Alport syndrome

Gibson, Joel T ; Huang, Mary ; Shenelli Croos Dabrera, Marina ; Shukla, Krushnam ; Rothe, Hansjörg ; Hilbert, Pascale ; Deltas, Constantinos ; Storey, Helen ; Lipska-Ziętkiewicz, Beata S ; Chan, Melanie M Y ; Sadeghi-Alavijeh, Omid ; Gale, Daniel P ; Cerkauskaite, Agne ; Savige, Judy

Scientific reports, 2022-02, Vol.12 (1), p.2722-13, Article 2722 [Periódico revisado por pares]

England: Nature Publishing Group

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9
A genotype-to-phenotype approach suggests under-reporting of single nucleotide variants in nephrocystin-1 (NPHP1) related disease (UK 100,000 Genomes Project)
A genotype-to-phenotype approach suggests under-reporting of single nucleotide variants in nephrocystin-1 (NPHP1) related disease (UK 100,000 Genomes Project)
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A genotype-to-phenotype approach suggests under-reporting of single nucleotide variants in nephrocystin-1 (NPHP1) related disease (UK 100,000 Genomes Project)

Leggatt, Gary ; Cheng, Guo ; Narain, Sumit ; Briseño-Roa, Luis ; Annereau, Jean-Philippe ; Gast, Christine ; Gilbert, Rodney D ; Ennis, Sarah

Scientific reports, 2023-06, Vol.13 (1), p.9369-12, Article 9369 [Periódico revisado por pares]

England: Nature Publishing Group

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10
Application of ensemble clustering and survival tree analysis for identifying prognostic clinicogenomic features in patients with colorectal cancer from the 100,000 Genomes Project
Application of ensemble clustering and survival tree analysis for identifying prognostic clinicogenomic features in patients with colorectal cancer from the 100,000 Genomes Project
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Application of ensemble clustering and survival tree analysis for identifying prognostic clinicogenomic features in patients with colorectal cancer from the 100,000 Genomes Project

Wei, Yuguo ; Papachristou, Nikolaos ; Mueller, Stefanie ; Chang, Wai Hoong ; Lai, Alvina G

BMC research notes, 2021-10, Vol.14 (1), p.385-385, Article 385 [Periódico revisado por pares]

England: BioMed Central Ltd

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Assunto 

  1. Humans  (11)
  2. Genomes  (8)
  3. Genomics  (5)
  4. Mutation  (5)
  5. Cancer  (4)
  6. Male  (4)
  7. Whole Genome Sequencing  (4)
  8. Pathogenicity  (3)
  9. Deoxyribonucleic Acid  (3)
  10. Diagnosis  (3)
  11. Female  (3)
  12. Kidney Diseases  (3)
  13. Algorithms  (3)
  14. Kidneys  (3)
  15. Dna  (3)
  16. Pathogens  (3)
  17. Gene Sequencing  (3)
  18. Mais opções open sub menu

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