Zobrazeno 1 - 10
of 21
pro vyhledávání: '"Madhuri R, Hegde"'
Autor:
Lora J. H. Bean, Madhuri R. Hegde
Publikováno v:
Genome Medicine, Vol 9, Iss 1, Pp 1-3 (2017)
Abstract Clinical genetics laboratories have recently adopted guidelines for the interpretation of sequence variants set by the American College of Medical Genetics (ACMG) and Association for Molecular Pathology (AMP). The use of in silico algorithms
Externí odkaz:
https://doaj.org/article/bad6672e95cd4878915f738dd743f7d8
Autor:
Arupa Ganguly, Matthew J. Ferber, Madhuri R Hegde, Patti Krautscheid, Rondell P. Graham, Suma P. Shankar, Rong Mao
Publikováno v:
Genetics in Medicine. 23:1807-1817
Colorectal cancer (CRC) is the fourth most frequently diagnosed cancer and 30% of all cases of CRC are believed to have a familial component and up to one-third of these (10%) are hereditary. Pathogenic germline variants in multiple genes have been a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::2500b570bf06ba11df6650f2e3159146
https://doi.org/10.1038/s41436-021-01207-9
https://doi.org/10.1038/s41436-021-01207-9
Autor:
Joseph J. Shen, Johannes Koch, Lonneke de Boer, Saskia B. Wortmann, Leo A. J. Kluijtmans, Christin D. Collins, Marleen C. D. G. Huigen, Clara D.M. van Karnebeek, Madhuri R Hegde, Robin van der Lee, Stephanie Ross
Publikováno v:
Genetics in Medicine, 23, 3, pp. 581-585
Genetics in Medicine, 23, 581-585
Genetics in medicine, 23(3), 581-585. Lippincott Williams and Wilkins
Genetics in Medicine, 23, 581-585
Genetics in medicine, 23(3), 581-585. Lippincott Williams and Wilkins
Contains fulltext : 231549.pdf (Publisher’s version ) (Closed access) PURPOSE: The 2015 American College of Medical Genetics and Genomics/Association for Molecular Pathology (ACMG/AMP) guidelines for the interpretation of sequence variants provide
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c4c7b5dfc2de50bbdb453a20f799c094
https://doi.org/10.1038/s41436-020-00996-9
https://doi.org/10.1038/s41436-020-00996-9
Autor:
Hunter H Giles, Megan E Garlapow, Julie M. Eggington, Elaine Lyon, Iain D. Kerr, Christine M. Stanley, Madhuri R Hegde
Publikováno v:
Annual review of genomics and human genetics. 22
Clinical genetic variant classification science is a growing subspecialty of clinical genetics and genomics. The field's continued improvement is essential for the success of precision medicine in both germline (hereditary) and somatic (oncology) con
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fa0c3dfc215382db6c70be7d5a527fe3
https://pubmed.ncbi.nlm.nih.gov/33900788
https://pubmed.ncbi.nlm.nih.gov/33900788
Autor:
Joseph J, Shen, Saskia B, Wortmann, Leo A J, Kluijtmans, Christin D, Collins, Robin, van der Lee, Clara D M, van Karnebeek, Madhuri R, Hegde
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics. 23(4)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::9a450f29097e4aa06ff25c460faead0a
https://pubmed.ncbi.nlm.nih.gov/33154565
https://pubmed.ncbi.nlm.nih.gov/33154565
Autor:
Madhu Bala Singla, Amit D Chaudhari, Pradnya S Gaitonde, Rashna S Dastur, Ashish G Bhutada, Satish V Khadilkar, Madhuri R Hegde
Publikováno v:
MusclenerveREFERENCES. 63(2)
Background GNE myopathy is widely regarded as a distal myopathy. Involvement of proximal musculature in this condition has not been systematically studied. Methods The phenotype of genetically confirmed patients with GNE myopathy was analyzed. Fourte
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6ee7aac6105575914a9dd0d2480198ba
https://pubmed.ncbi.nlm.nih.gov/33197058
https://pubmed.ncbi.nlm.nih.gov/33197058
Autor:
Alka, Chaubey, Suresh, Shenoy, Abhinav, Mathur, Zeqiang, Ma, C Alexander, Valencia, Babi R, Reddy Nallamilli, Edward, Szekeres, Leah, Stansberry, Ruby, Liu, Madhuri R, Hegde
Publikováno v:
The Journal of molecular diagnostics : JMD. 22(6)
DNA copy number variants (CNVs) account for approximately 300 Mb of sequence variation in the normal human genome. Significant numbers of pathogenic CNVs contribute toward human genetic disorders. Recent studies suggest a higher diagnostic and clinic
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::27e54c50a605ec2c40dcd5376ab2a977
https://pubmed.ncbi.nlm.nih.gov/32344035
https://pubmed.ncbi.nlm.nih.gov/32344035
Autor:
Leo A. J. Kluijtmans, Saskia B. Wortmann, Clara D.M. van Karnebeek, Robin van der Lee, Madhuri R Hegde, Joseph J. Shen, Christin D. Collins
Publikováno v:
Genetics in Medicine
Genetics in medicine, 23(4), 793-794. Lippincott Williams and Wilkins
Genetics in medicine, 23(4), 793-794. Lippincott Williams and Wilkins
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1fe91d7237e56d2be4a0b31925f8788e
https://doi.org/10.1038/s41436-020-01055-z
https://doi.org/10.1038/s41436-020-01055-z
Autor:
Jennifer G Mulle, Viren C Patel, Stephen T Warren, Madhuri R Hegde, David J Cutler, Michael E Zwick
Publikováno v:
PLoS ONE, Vol 5, Iss 3, p e9921 (2010)
DNA-based microarrays are increasingly central to biomedical research. Selecting oligonucleotide sequences that will behave consistently across experiments is essential to the design, production and performance of DNA microarrays. Here our aim was to
Externí odkaz:
https://doaj.org/article/950a3e8da7c14970a7d32d3d60bd308e
Autor:
Zeqiang Ma, Jesse Slone, Taosheng Huang, Rachel Brockhage, Madhuri R Hegde, C Alexander Valencia
Publikováno v:
Journal of Genetics and Genomics. 45:333-335
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fcccf2284ef765c05521b6ad4941906b
https://doi.org/10.1016/j.jgg.2018.06.001
https://doi.org/10.1016/j.jgg.2018.06.001