Betânia Machado Loures
Mesa Neurogenética para o Neurologista Geral - Sala 1
| Artigo | Autor(es) | Referência |
|---|---|---|
| DNA sequencing at 40: past, present and future. | Shendure Jay, Balasubramanian Shankar, Church George M, Gilbert Walter, Rogers Jane, Schloss Jeffery A, Waterston Robert H | Nature. 2017 10; 550(10):345-353. doi: 10.1038/nature24286. pii: . |
| Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. | Richards Sue, Aziz Nazneen, Bale Sherri, Bick David, Das Soma, Gastier-Foster Julie, Grody Wayne W, Hegde Madhuri, Lyon Elaine, Spector Elaine, Voelkerding Karl, Rehm Heidi L, | Genetics in medicine : official journal of the American College of Medical Genetics. 2015 May; 17(May):405-24. doi: 10.1038/gim.2015.30. pii: . |
| The ACMG/AMP reputable source criteria for the interpretation of sequence variants. | Biesecker Leslie G, Harrison Steven M, | Genetics in medicine : official journal of the American College of Medical Genetics. 2018 12; 20(12):1687-1688. doi: 10.1038/gim.2018.42. pii: . |