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Connection

Co-Authors

This is a "connection" page, showing publications co-authored by Soma Das and Daniela Del Gaudio.
Connection Strength

1.381
  1. Correction: "Congenital hyperinsulinism as the presenting feature of Kabuki syndrome: clinical and molecular characterization of 10 affected individuals". Genet Med. 2019 01; 21(1):262-265.
    View in: PubMed
    Score: 0.172
  2. Targeted exome analysis identifies the genetic basis of disease in over 50% of patients with a wide range of ataxia-related phenotypes. Genet Med. 2019 01; 21(1):195-206.
    View in: PubMed
    Score: 0.166
  3. Molecular characterization of HDAC8 deletions in individuals with atypical Cornelia de Lange syndrome. J Hum Genet. 2018 Mar; 63(3):349-356.
    View in: PubMed
    Score: 0.160
  4. Improved molecular diagnosis of patients with neonatal diabetes using a combined next-generation sequencing and MS-MLPA approach. J Pediatr Endocrinol Metab. 2016 May 01; 29(5):523-31.
    View in: PubMed
    Score: 0.143
  5. A novel mutation in the promoter of RARS2 causes pontocerebellar hypoplasia in two siblings. J Hum Genet. 2015 Jul; 60(7):363-9.
    View in: PubMed
    Score: 0.132
  6. Two novel RAD21 mutations in patients with mild Cornelia de Lange syndrome-like presentation and report of the first familial case. Gene. 2014 Mar 10; 537(2):279-84.
    View in: PubMed
    Score: 0.121
  7. Copy number analysis of NIPBL in a cohort of 510 patients reveals rare copy number variants and a mosaic deletion. Mol Genet Genomic Med. 2014 Mar; 2(2):115-23.
    View in: PubMed
    Score: 0.120
  8. Germline Variants Incidentally Detected via Tumor-Only Genomic Profiling of Patients With Mesothelioma. JAMA Netw Open. 2023 08 01; 6(8):e2327351.
    View in: PubMed
    Score: 0.059
  9. The landscape of reported VUS in multi-gene panel and genomic testing: Time for a change. Genet Med. 2023 Dec; 25(12):100947.
    View in: PubMed
    Score: 0.059
  10. Exome sequencing identifies PD-L2 as a potential predisposition gene for lymphoma. Hematol Oncol. 2022 Aug; 40(3):475-478.
    View in: PubMed
    Score: 0.054
  11. Feasibility and limitations of cultured skin fibroblasts for germline genetic testing in hematologic disorders. Hum Mutat. 2022 07; 43(7):950-962.
    View in: PubMed
    Score: 0.054
  12. Germline variants drive myelodysplastic syndrome in young adults. Leukemia. 2021 08; 35(8):2439-2444.
    View in: PubMed
    Score: 0.050
  13. Telomere biology disorder prevalence and phenotypes in adults with familial hematologic and/or pulmonary presentations. Blood Adv. 2020 10 13; 4(19):4873-4886.
    View in: PubMed
    Score: 0.049
  14. Congenital hyperinsulinism as the presenting feature of Kabuki syndrome: clinical and molecular characterization of 9 affected individuals. Genet Med. 2019 01; 21(1):233-242.
    View in: PubMed
    Score: 0.041
Connection Strength

The connection strength for concepts is the sum of the scores for each matching publication.

Publication scores are based on many factors, including how long ago they were written and whether the person is a first or senior author.