| Year |
Citation |
Score |
| 2020 |
Pettitt SJ, Frankum JR, Punta M, Lise S, Alexander J, Chen Y, Yap TA, Haider S, Tutt ANJ, Lord CJ. Clinical BRCA1/2 reversion analysis identifies hotspot mutations and predicted neoantigens associated with therapy resistance. Cancer Discovery. PMID 32699032 DOI: 10.1158/2159-8290.Cd-19-1485 |
0.336 |
|
| 2020 |
von Loga K, Woolston A, Punta M, Barber LJ, Griffiths B, Semiannikova M, Spain G, Challoner B, Fenwick K, Simon R, Marx A, Sauter G, Lise S, Matthews N, Gerlinger M. Extreme intratumour heterogeneity and driver evolution in mismatch repair deficient gastro-oesophageal cancer. Nature Communications. 11: 139. PMID 31949146 DOI: 10.1038/S41467-019-13915-7 |
0.352 |
|
| 2019 |
Kleftogiannis D, Punta M, Jayaram A, Sandhu S, Wong SQ, Gasi Tandefelt D, Conteduca V, Wetterskog D, Attard G, Lise S. Identification of single nucleotide variants using position-specific error estimation in deep sequencing data. Bmc Medical Genomics. 12: 115. PMID 31375105 DOI: 10.1186/S12920-019-0557-9 |
0.308 |
|
| 2018 |
Tripathy R, Leca I, van Dijk T, Weiss J, van Bon BW, Sergaki MC, Gstrein T, Breuss M, Tian G, Bahi-Buisson N, Paciorkowski AR, Pagnamenta AT, Wenninger-Weinzierl A, Martinez-Reza MF, Landler L, ... Lise S, et al. Mutations in MAST1 Cause Mega-Corpus-Callosum Syndrome with Cerebellar Hypoplasia and Cortical Malformations. Neuron. PMID 30449657 DOI: 10.1016/J.Neuron.2018.10.044 |
0.316 |
|
| 2018 |
Mansukhani S, Barber LJ, Kleftogiannis D, Moorcraft SY, Davidson M, Woolston A, Proszek PZ, Griffiths B, Fenwick K, Herman B, Matthews N, O'Leary B, Hulkki S, Gonzalez De Castro D, Patel A, ... ... Lise S, et al. Ultra-Sensitive Mutation Detection and Genome-Wide DNA Copy Number Reconstruction by Error-Corrected Circulating Tumor DNA Sequencing. Clinical Chemistry. PMID 30150316 DOI: 10.1373/Clinchem.2018.289629 |
0.324 |
|
| 2017 |
Conti V, Carabalona A, Pallesi-Pocachard E, Leventer RJ, Schaller F, Parrini E, Deparis AA, Watrin F, Buhler E, Novara F, Lise S, Pagnamenta AT, Kini U, Taylor JC, Zuffardi O, et al. A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations. Journal of Visualized Experiments : Jove. PMID 29286390 DOI: 10.3791/53570 |
0.331 |
|
| 2017 |
Davies MN, Barber LJ, Spain G, Lopes F, Loga Kv, Griffiths B, Woolston A, Alpar D, Gomez M, Lipinski KA, Fenwick K, Eltahir Z, Lise S, Agoston EI, Harsanyi L, et al. Abstract 422: Lymph node metastasis evolution drives immune evasion and targeted therapy resistance in gastro-esophageal adenocarcinomas (GEAs) Cancer Research. 77: 422-422. DOI: 10.1158/1538-7445.Am2017-422 |
0.302 |
|
| 2016 |
Hastings R, de Villiers C, Hooper C, Ormondroyd L, Pagnamenta A, Lise S, Salatino S, Knight SJ, Taylor JC, Thomson KL, Arnold L, Chatziefthimiou SD, Konarev PV, Wilmanns M, Ehler E, et al. Combination of Whole Genome Sequencing, Linkage and Functional Studies Implicates a Missense Mutation in Titin as a Cause of Autosomal Dominant Cardiomyopathy with Features of Left Ventricular Non-Compaction. Circulation. Cardiovascular Genetics. PMID 27625337 DOI: 10.1161/Circgenetics.116.001431 |
0.351 |
|
| 2016 |
Piret SE, Gorvin CM, Trinh A, Taylor J, Lise S, Taylor JC, Ebeling PR, Thakker RV. Autosomal dominant osteopetrosis associated with renal tubular acidosis is due to a CLCN7 mutation. American Journal of Medical Genetics. Part A. PMID 27540713 DOI: 10.1002/Ajmg.A.37755 |
0.312 |
|
| 2016 |
Hellner K, Miranda F, Fotso Chedom D, Herrero-Gonzalez S, Hayden DM, Tearle R, Artibani M, KaramiNejadRanjbar M, Williams R, Gaitskell K, Elorbany S, Xu R, Laios A, Buiga P, Ahmed K, ... ... Lise S, et al. Premalignant SOX2 overexpression in the fallopian tubes of ovarian cancer patients: Discovery and validation studies. Ebiomedicine. PMID 27492892 DOI: 10.1016/J.Ebiom.2016.06.048 |
0.369 |
|
| 2016 |
Lange L, Pagnamenta AT, Lise S, Clasper S, Stewart H, Akha ES, Quaghebeur G, Knight SJ, Keays DA, Taylor JC, Kini U. A de novo frameshift in HNRNPK causing a Kabuki-like syndrome with nodular heterotopia. Clinical Genetics. PMID 26954065 DOI: 10.1111/Cge.12773 |
0.321 |
|
| 2015 |
Taylor JC, Martin HC, Lise S, Broxholme J, Cazier JB, Rimmer A, Kanapin A, Lunter G, Fiddy S, Allan C, Aricescu AR, Attar M, Babbs C, Becq J, Beeson D, et al. Factors influencing success of clinical genome sequencing across a broad spectrum of disorders. Nature Genetics. 47: 717-26. PMID 25985138 DOI: 10.1038/Ng.3304 |
0.32 |
|
| 2013 |
Conti V, Carabalona A, Pallesi-Pocachard E, Parrini E, Leventer RJ, Buhler E, McGillivray G, Michel FJ, Striano P, Mei D, Watrin F, Lise S, Pagnamenta AT, Taylor JC, Kini U, et al. Periventricular heterotopia in 6q terminal deletion syndrome: role of the C6orf70 gene. Brain : a Journal of Neurology. 136: 3378-94. PMID 24056535 DOI: 10.1093/Brain/Awt249 |
0.327 |
|
| 2013 |
Németh AH, Kwasniewska AC, Lise S, Parolin Schnekenberg R, Becker EB, Bera KD, Shanks ME, Gregory L, Buck D, Zameel Cader M, Talbot K, de Silva R, Fletcher N, Hastings R, Jayawant S, et al. Next generation sequencing for molecular diagnosis of neurological disorders using ataxias as a model. Brain : a Journal of Neurology. 136: 3106-18. PMID 24030952 DOI: 10.1093/Brain/Awt236 |
0.355 |
|
| 2013 |
Shanks ME, Downes SM, Copley RR, Lise S, Broxholme J, Hudspith KA, Kwasniewska A, Davies WI, Hankins MW, Packham ER, Clouston P, Seller A, Wilkie AO, Taylor JC, Ragoussis J, et al. Next-generation sequencing (NGS) as a diagnostic tool for retinal degeneration reveals a much higher detection rate in early-onset disease. European Journal of Human Genetics : Ejhg. 21: 274-80. PMID 22968130 DOI: 10.1038/Ejhg.2012.172 |
0.353 |
|
| 2012 |
Lise S, Clarkson Y, Perkins E, Kwasniewska A, Sadighi Akha E, Schnekenberg RP, Suminaite D, Hope J, Baker I, Gregory L, Green A, Allan C, Lamble S, Jayawant S, Quaghebeur G, et al. Recessive mutations in SPTBN2 implicate β-III spectrin in both cognitive and motor development. Plos Genetics. 8: e1003074. PMID 23236289 DOI: 10.1371/Journal.Pgen.1003074 |
0.303 |
|
| 2012 |
Davies WI, Downes SM, Fu JK, Shanks ME, Copley RR, Lise S, Ramsden SC, Black GC, Gibson K, Foster RG, Hankins MW, Németh AH. Next-generation sequencing in health-care delivery: lessons from the functional analysis of rhodopsin. Genetics in Medicine : Official Journal of the American College of Medical Genetics. 14: 891-9. PMID 22791210 DOI: 10.1038/Gim.2012.73 |
0.322 |
|
| 2012 |
Pagnamenta AT, Lise S, Harrison V, Stewart H, Jayawant S, Quaghebeur G, Deng AT, Murphy VE, Sadighi Akha E, Rimmer A, Mathieson I, Knight SJ, Kini U, Taylor JC, Keays DA. Exome sequencing can detect pathogenic mosaic mutations present at low allele frequencies. Journal of Human Genetics. 57: 70-2. PMID 22129557 DOI: 10.1038/Jhg.2011.128 |
0.361 |
|
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