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91 results on '"Augusto, Rendon"'

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1. Copy-number analysis from genome sequencing data of 11,754 rare-disease parent-child trios: A model for identifying autosomal recessive human gene knockouts including a novel gene for autosomal recessive retinopathy

2. Whole-genome sequencing of patients with rare diseases in a national health system.

3. GA4GH: International policies and standards for data sharing across genomic research and healthcare

5. Newborn Screening by Genomic Sequencing: Opportunities and Challenges

6. Late-Onset Autosomal Dominant Macular Degeneration Caused by Deletion of the CRX Gene

7. Platelet function is modified by common sequence variation in megakaryocyte super enhancers

8. HGVA: the Human Genome Variation Archive.

9. Seguridad de la extracción de masas pélvicas por colpotomía en mujeres llevadas a laparoscopia ginecológica en el Hospital de San José de Bogotá, Colombia, 2016

10. 100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care — Preliminary Report

11. Insights for precision healthcare from the 100,000 Genomes Cancer Programme

12. Scaling national and international improvement in virtual gene panel curation via a collaborative approach to discordance resolution

13. SOX11 variants cause a neurodevelopmental disorder with infrequent ocular malformations and hypogonadotropic hypogonadism and with distinct DNA methylation profile

14. Whole genome sequencing for the diagnosis of neurological repeat expansion disorders in the UK: a retrospective diagnostic accuracy and prospective clinical validation study

16. PanelApp crowdsources expert knowledge to establish consensus diagnostic gene panels

17. Author response for 'Biallelic TMEM260 variants cause Truncus Arteriosus, with or without renal defects'

18. Whole genome sequencing identifies multiple loci for critical illness caused by COVID-19

19. Evaluating the performance of a clinical genome sequencing program for diagnosis of rare genetic disease, seen through the lens of craniosynostosis

20. Biallelic variants in PCDHGC4 cause a novel neurodevelopmental syndrome with progressive microcephaly, seizures, and joint anomalies

21. Bayesian Inference Associates Rare KDR Variants with Specific Phenotypes in Pulmonary Arterial Hypertension

22. Pathogenic huntingtin repeat expansions in patients with frontotemporal dementia and amyotrophic lateral sclerosis

23. Whole genome sequencing for diagnosis of neurological repeat expansion disorders

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

25. De novo SOX6 variants cause a neurodevelopmental syndrome associated with ADHD, craniosynostosis, and osteochondromas

26. SARS-CoV-2 susceptibility and COVID-19 disease severity are associated with genetic variants affecting gene expression in a variety of tissues

27. Comparison of methods for competitive tests of pathway analysis.

28. Monocyte gene expression signature of patients with early onset coronary artery disease.

29. Integrating genome-wide genetic variations and monocyte expression data reveals trans-regulated gene modules in humans.

31. Multiple loci are associated with white blood cell phenotypes.

32. Maps of open chromatin guide the functional follow-up of genome-wide association signals: application to hematological traits.

33. Development and validation of a universal blood donor genotyping platform: A multinational prospective study

34. PanelApp crowdsources expert knowledge to establish consensus diagnostic gene panels

35. PyCellBase, an efficient python package for easy retrieval of biological data from heterogeneous sources

36. Maps of open chromatin highlight cell type-restricted patterns of regulatory sequence variation at hematological trait loci

37. G2P: Using machine learning to understand and predict genes causing rare neurological disorders

38. Comparative analysis of neutrophil and monocyte epigenomes

39. A Recurrent De Novo Nonsense Variant in ZSWIM6 Results in Severe Intellectual Disability without Frontonasal or Limb Malformations

40. Missense variants in the X-linked gene PRPS1 cause retinal degeneration in females

41. Familial pseudohyperkalemia in blood donors: a novel mutation with implications for transfusion practice

42. 100,000 genomes project: Integrating whole genome sequencing (WGS) data into clinical practice

43. SMIM1 underlies the Vel blood group and influences red blood cell traits

44. HGVA: the Human Genome Variation Archive

45. Transcription factor and chromatin features predict genes associated with eQTLs

46. Interleukin-6 receptor pathways in coronary heart disease: a collaborative meta-analysis of 82 studies

47. 100,000 Genomes Project: Cancer programme

48. Abstract 434: 100,000 Genomes Project: Cancer program

49. The 100 000 Genomes Project: bringing whole genome sequencing to the NHS

50. Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium

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