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Gaia Andreoletti, PhD

Title(s)Postdoctoral Scholar, Computational Health Scienc
SchoolSchool of Medicine
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    Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Researchers can login to make corrections and additions, or contact us for help. to make corrections and additions.
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    Altmetrics Details PMC Citations indicate the number of times the publication was cited by articles in PubMed Central, and the Altmetric score represents citations in news articles and social media. (Note that publications are often cited in additional ways that are not shown here.) Fields are based on how the National Library of Medicine (NLM) classifies the publication's journal and might not represent the specific topic of the publication. Translation tags are based on the publication type and the MeSH terms NLM assigns to the publication. Some publications (especially newer ones and publications not in PubMed) might not yet be assigned Field or Translation tags.) Click a Field or Translation tag to filter the publications.
    1. Assessment of predicted enzymatic activity of a-N-acetylglucosaminidase variants of unknown significance for CAGI 2016. Hum Mutat. 2019 09; 40(9):1519-1529. Clark WT, Kasak L, Bakolitsa C, Hu Z, Andreoletti G, Babbi G, Bromberg Y, Casadio R, Dunbrack R, Folkman L, Ford CT, Jones D, Katsonis P, Kundu K, Lichtarge O, Martelli PL, Mooney SD, Nodzak C, Pal LR, Radivojac P, Savojardo C, Shi X, Zhou Y, Uppal A, Xu Q, Yin Y, Pejaver V, Wang M, Wei L, Moult J, Yu GK, Brenner SE, LeBowitz JH. PMID: 31342580.
      View in: PubMed   Mentions: 1     Fields:    Translation:Humans
    2. Reports from the fifth edition of CAGI: The Critical Assessment of Genome Interpretation. Hum Mutat. 2019 09; 40(9):1197-1201. Andreoletti G, Pal LR, Moult J, Brenner SE. PMID: 31334884.
      View in: PubMed   Mentions: 3     Fields:    Translation:Humans
    3. Assessing the performance of in silico methods for predicting the pathogenicity of variants in the gene CHEK2, among Hispanic females with breast cancer. Hum Mutat. 2019 09; 40(9):1612-1622. Voskanian A, Katsonis P, Lichtarge O, Pejaver V, Radivojac P, Mooney SD, Capriotti E, Bromberg Y, Wang Y, Miller M, Martelli PL, Savojardo C, Babbi G, Casadio R, Cao Y, Sun Y, Shen Y, Garg A, Pal D, Yu Y, Huff CD, Tavtigian SV, Young E, Neuhausen SL, Ziv E, Pal LR, Andreoletti G, Brenner SE, Kann MG. PMID: 31241222.
      View in: PubMed   Mentions: 2     Fields:    Translation:Humans
    4. Performance of computational methods for the evaluation of pericentriolar material 1 missense variants in CAGI-5. Hum Mutat. 2019 09; 40(9):1474-1485. Monzon AM, Carraro M, Chiricosta L, Reggiani F, Han J, Ozturk K, Wang Y, Miller M, Bromberg Y, Capriotti E, Savojardo C, Babbi G, Martelli PL, Casadio R, Katsonis P, Lichtarge O, Carter H, Kousi M, Katsanis N, Andreoletti G, Moult J, Brenner SE, Ferrari C, Leonardi E, Tosatto SCE. PMID: 31260570.
      View in: PubMed   Mentions: 1     Fields:    Translation:Humans
    5. VIPdb, a genetic Variant Impact Predictor Database. Hum Mutat. 2019 09; 40(9):1202-1214. Hu Z, Yu C, Furutsuki M, Andreoletti G, Ly M, Hoskins R, Adhikari AN, Brenner SE. PMID: 31283070.
      View in: PubMed   Mentions: 2     Fields:    Translation:HumansCells
    6. Evaluating the predictions of the protein stability change upon single amino acid substitutions for the FXN CAGI5 challenge. Hum Mutat. 2019 09; 40(9):1392-1399. Savojardo C, Petrosino M, Babbi G, Bovo S, Corbi-Verge C, Casadio R, Fariselli P, Folkman L, Garg A, Karimi M, Katsonis P, Kim PM, Lichtarge O, Martelli PL, Pasquo A, Pal D, Shen Y, Strokach AV, Turina P, Zhou Y, Andreoletti G, Brenner SE, Chiaraluce R, Consalvi V, Capriotti E. PMID: 31209948.
      View in: PubMed   Mentions: 2     Fields:    Translation:HumansCells
    7. Assessment of patient clinical descriptions and pathogenic variants from gene panel sequences in the CAGI-5 intellectual disability challenge. Hum Mutat. 2019 09; 40(9):1330-1345. Carraro M, Monzon AM, Chiricosta L, Reggiani F, Aspromonte MC, Bellini M, Pagel K, Jiang Y, Radivojac P, Kundu K, Pal LR, Yin Y, Limongelli I, Andreoletti G, Moult J, Wilson SJ, Katsonis P, Lichtarge O, Chen J, Wang Y, Hu Z, Brenner SE, Ferrari C, Murgia A, Tosatto SCE, Leonardi E. PMID: 31144778.
      View in: PubMed   Mentions: 1     Fields:    Translation:Humans
    8. Familial Ebstein Anomaly: Whole Exome Sequencing Identifies Novel Phenotype Associated With FLNA. Circ Cardiovasc Genet. 2017 Dec; 10(6). Mercer CL, Andreoletti G, Carroll A, Salmon AP, Temple IK, Ennis S. PMID: 29237676.
      View in: PubMed   Mentions: 1     Fields:    Translation:HumansCells
    9. Reports from CAGI: The Critical Assessment of Genome Interpretation. Hum Mutat. 2017 09; 38(9):1039-1041. Hoskins RA, Repo S, Barsky D, Andreoletti G, Moult J, Brenner SE. PMID: 28817245.
      View in: PubMed   Mentions: 9     Fields:    Translation:Humans
    10. Unexpected Findings in a Child with Atypical Hemolytic Uremic Syndrome: An Example of How Genomics Is Changing the Clinical Diagnostic Paradigm. Front Pediatr. 2017; 5:113. Seaby EG, Gilbert RD, Andreoletti G, Pengelly RJ, Mercer C, Hunt D, Ennis S. PMID: 28589114.
      View in: PubMed   Mentions:
    11. Exome Analysis of Rare and Common Variants within the NOD Signaling Pathway. Sci Rep. 2017 04 19; 7:46454. Andreoletti G, Shakhnovich V, Christenson K, Coelho T, Haggarty R, Afzal NA, Batra A, Petersen BS, Mort M, Beattie RM, Ennis S. PMID: 28422189.
      View in: PubMed   Mentions: 2     Fields:    Translation:HumansCells
    12. ADCY5-related dyskinesia presenting as familial myoclonus-dystonia. Neurogenetics. 2017 Apr; 18(2):111-117. Douglas AG, Andreoletti G, Talbot K, Hammans SR, Singh J, Whitney A, Ennis S, Foulds NC. PMID: 28229249.
      View in: PubMed   Mentions: 6     Fields:    Translation:Humans
    13. De novo and rare mutations in the HSPA1L heat shock gene associated with inflammatory bowel disease. Genome Med. 2017 01 26; 9(1):8. Takahashi S, Andreoletti G, Chen R, Munehira Y, Batra A, Afzal NA, Beattie RM, Bernstein JA, Ennis S, Snyder M. PMID: 28126021.
      View in: PubMed   Mentions: 2     Fields:    Translation:HumansCells
    14. AMMECR1: a single point mutation causes developmental delay, midface hypoplasia and elliptocytosis. J Med Genet. 2017 04; 54(4):269-277. Andreoletti G, Seaby EG, Dewing JM, O'Kelly I, Lachlan K, Gilbert RD, Ennis S. PMID: 27811305.
      View in: PubMed   Mentions: 2     Fields:    Translation:HumansCells
    15. Genes implicated in thiopurine-induced toxicity: Comparing TPMT enzyme activity with clinical phenotype and exome data in a paediatric IBD cohort. Sci Rep. 2016 10 05; 6:34658. Coelho T, Andreoletti G, Ashton JJ, Batra A, Afzal NA, Gao Y, Williams AP, Beattie RM, Ennis S. PMID: 27703193.
      View in: PubMed   Mentions: 4     Fields:    Translation:HumansCTClinical Trials
    16. Identification of Variants in Genes Associated with Single-gene Inflammatory Bowel Disease by Whole-exome Sequencing. Inflamm Bowel Dis. 2016 10; 22(10):2317-27. Ashton JJ, Andreoletti G, Coelho T, Haggarty R, Batra A, Afzal NA, Beattie RM, Ennis S. PMID: 27537055.
      View in: PubMed   Mentions: 9     Fields:    Translation:Humans
    17. Progressive myoclonic epilepsy with Fanconi syndrome. JRSM Open. 2016 Jun; 7(6):2054270415623145. Seaby EG, Gilbert RD, Pengelly RJ, Andreoletti G, Clarke A, Ennis S. PMID: 27293772.
      View in: PubMed   Mentions:
    18. Exome analysis of patients with concurrent pediatric inflammatory bowel disease and autoimmune disease. Inflamm Bowel Dis. 2015 Jun; 21(6):1229-36. Andreoletti G, Ashton JJ, Coelho T, Willis C, Haggarty R, Gibson J, Holloway J, Batra A, Afzal NA, Beattie RM, Ennis S. PMID: 25895113.
      View in: PubMed   Mentions: 6     Fields:    Translation:Humans
    19. Erratum to: a SNP profiling panel for sample tracking in whole-exome sequencing studies. Genome Med. 2015; 7(1):44. Pengelly RJ, Gibson J, Andreoletti G, Collins A, Mattocks CJ, Ennis S. PMID: 25949530.
      View in: PubMed   Mentions: 1     Fields:    
    20. Immuno-genomic profiling of patients with inflammatory bowel disease: a systematic review of genetic and functional in vivo studies of implicated genes. Inflamm Bowel Dis. 2014 Oct; 20(10):1813-9. Coelho T, Andreoletti G, Ashton JJ, Pengelly RJ, Gao Y, RamaKrishnan A, Batra A, Beattie RM, Williams AP, Ennis S. PMID: 25171511.
      View in: PubMed   Mentions: 2     Fields:    Translation:Humans
    21. A SNP profiling panel for sample tracking in whole-exome sequencing studies. Genome Med. 2013; 5(9):89. Pengelly RJ, Gibson J, Andreoletti G, Collins A, Mattocks CJ, Ennis S. PMID: 24070238.
      View in: PubMed   Mentions: 24     Fields:    
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