Ravi Silva’s top 4 papers
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See all read (59) →TDP-43 mutations in familial and sporadic amyotrophic lateral sclerosis
Sreedharan J, Blair IP, Tripathi VB, Hu X, Vance C, Rogelj B, Ackerley S, Durnall JC, Williams KL, Buratti E, Baralle F, de Belleroche J, Mitchell JD, Leigh PN, Al-Chalabi A, Miller CC, Nicholson G, Shaw CE.
Science · 2008
Segregation of a missense mutation in the amyloid precursor protein gene with familial Alzheimer's disease
Goate A, Chartier-Harlin MC, Mullan M, Brown J, Crawford F, Fidani L, Giuffra L, Haynes A, Irving N, James L.
Nature · 1991
Coactivator condensation at super-enhancers links phase separation and gene control
Sabari BR, Dall'Agnese A, Boija A, Klein IA, Coffey EL, Shrinivas K, Abraham BJ, Hannett NM, Zamudio AV, Manteiga JC, Li CH, Guo YE, Day DS, Schuijers J, Vasile E, Malik S, Hnisz D, Lee TI, Cisse II, Roeder RG, Sharp PA, Chakraborty AK, Young RA.
Science · 2018
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 S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL, ACMG Laboratory Quality Assurance Committee.
Genet Med · 2015
Role of the microbiota in immunity and inflammation
Belkaid Y, Hand TW.
Cell · 2014
Comprehensive molecular portraits of human breast tumours
Cancer Genome Atlas Network.
Nature · 2012
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