1,127 results on '"Scott, Hamish S"'
Search Results
2. Germline genetic variants that predispose to myeloproliferative neoplasms and hereditary myeloproliferative phenotypes
3. Germ line ERG haploinsufficiency defines a new syndrome with cytopenia and hematological malignancy predisposition
4. TP53 mutation variant allele frequency of ≥10% is associated with poor prognosis in therapy-related myeloid neoplasms
5. Introme accurately predicts the impact of coding and noncoding variants on gene splicing, with clinical applications
6. Integrated multi-omics for rapid rare disease diagnosis on a national scale
7. Critically unwell infants and children with mitochondrial disorders diagnosed by ultrarapid genomic sequencing
8. Somatic mutational landscape of hereditary hematopoietic malignancies caused by germline variants in RUNX1, GATA2, and DDX41
9. Author Correction: Genomic autopsy to identify underlying causes of pregnancy loss and perinatal death
10. A Prox1 enhancer represses haematopoiesis in the lymphatic vasculature
11. Genomic autopsy to identify underlying causes of pregnancy loss and perinatal death
12. Hereditary platelet disorders associated with germ line variants in RUNX1, ETV6, and ANKRD26
13. Discovery of novel predisposing coding and noncoding variants in familial Hodgkin lymphoma
14. Variable expressivity in a four-generation ACDMPV family with a non-coding hypermorphic SNV in trans to the frameshifting FOXF1 variant
15. Allogeneic hematopoietic stem cell transplant outcomes in adults with inherited myeloid malignancies
16. Novel modes of MPL activation in triple-negative myeloproliferative neoplasms
17. Clinical updates and surveillance recommendations for DNA replication-repair deficiency syndromes in children and young adults
18. Genomic subtyping and therapeutic targeting of acute erythroleukemia
19. Increased Prevalence of Germline Pathogenic CHEK2 Variants in Individuals With Pituitary Adenomas.
20. IDH-mutant myeloid neoplasms are associated with seronegative rheumatoid arthritis and innate immune activation
21. Increased prevalence of germline pathogenic CHEK2 variants in individuals with pituitary adenomas
22. Targeted gene panels identify a high frequency of pathogenic germline variants in patients diagnosed with a hematological malignancy and at least one other independent cancer
23. Increased Prevalence of Germline Pathogenic CHEK2Variants in Individuals With Pituitary Adenomas
24. Germ line ERG haploinsufficiency defines a new syndrome with cytopenia and hematological malignancy predisposition
25. Unravelling Facets of MECOM-Associated Syndrome: Somatic Genetic Rescue, Clonal Hematopoiesis and Phenotype Expansion
26. Clinical Updates and Surveillance Recommendations for DNA Replication Repair Deficiency Syndromes in Children and Young Adults
27. IDH-mutant myeloid neoplasms are associated with seronegative rheumatoid arthritis and innate immune activation
28. Detecting missed diagnoses of spinal muscular atrophy in genome, exome, and panel sequencing datasets
29. Compound heterozygous variants in LAMC3 in association with posterior periventricular nodular heterotopia
30. Aberrant RAG-mediated recombination contributes to multiple structural rearrangements in lymphoid blast crisis of chronic myeloid leukemia
31. The mutational burden of therapy-related myeloid neoplasms is similar to primary myelodysplastic syndrome but has a distinctive distribution
32. The Genomic Landscape of Sporadic Prolactinomas
33. PAM variants in patients with thyrotrophinomas, cyclical Cushing’s disease and prolactinomas
34. ERG Is a New Predisposition Gene for Bone Marrow Failure and Hematological Malignancy
35. Identification of monogenic diabetes in an Australian cohort using the Exeter maturity-onset diabetes of the young (MODY) probability calculator and next-generation sequencing gene panel testing
36. Unraveling facets of MECOM-associated syndrome: somatic genetic rescue, clonal hematopoiesis, and phenotype expansion
37. Integrative genomic analysis reveals cancer-associated mutations at diagnosis of CML in patients with high-risk disease
38. Expression Profiling of Notch Signalling Pathway and Gamma-Secretase Activity in the Brain of Ts1Cje Mouse Model of Down Syndrome
39. Meiotic and Epigenetic Defects in Dnmt3L-Knockout Mouse Spermatogenesis
40. MyoD-family inhibitor proteins act as auxiliary subunits of Piezo channels
41. Transcription factor genetics and biology in predisposition to bone marrow failure and hematological malignancy
42. Two monogenic disorders masquerading as one: severe congenital neutropenia with monocytosis and non-syndromic sensorineural hearing loss
43. A putative role for the aryl hydrocarbon receptor (AHR) gene in a patient with cyclical Cushing’s disease
44. Impact of additional genetic abnormalities at diagnosis of chronic myeloid leukemia for first-line imatinib-treated patients receiving proactive treatment intervention
45. Australian Genomics: Outcomes of a 5-year national program to accelerate the integration of genomics in healthcare
46. Identification and targeted management of a neurodegenerative disorder caused by biallelic mutations in SLC5A6
47. Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort
48. Seronegative Rheumatoid Arthritis and Innate Immune Activation is Frequent in Myeloid Neoplasms with Isocitrate Dehydrogenase 1/2 Mutations
49. TP53 mutation in therapy-related myeloid neoplasm defines a distinct molecular subtype
50. Additional file 3 of Introme accurately predicts the impact of coding and noncoding variants on gene splicing, with clinical applications
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