-
Sergouniotis, PI, Chakarova, C, Murphy, C, Becker, M, Lenassi, E, Arno, G, Lek, M, MacArthur, DG, Consortium, U-E, Bhattacharya, SS, et al.
Biallelic Variants in TTLL5, Encoding a Tubulin Glutamylase, Cause Retinal Dystrophy.
American Journal of Human Genetics
94(5)
:
760 -769
2014
view publication
-
MacArthur, DG, Manolio, TA, Dimmock, DP, Rehm, HL, Shendure, J, Abecasis, GR, Adams, DR, Altman, RB, Antonarakis, SE, Ashley, EA, et al.
Guidelines for investigating causality of sequence variants in human disease.
Nature
508(7497)
:
469 -476
2014
view publication
-
Williams, AL, Jacobs, SBR, Moreno-Macías, H, Huerta-Chagoya, A, Churchhouse, C, Márquez-Luna, C, García-Ortíz, H, José Gómez-Vázquez, M, Burtt, NP, Aguilar-Salinas, CA, et al.
Sequence variants in SLC16A11 are a common risk factor for type 2 diabetes in Mexico.
Nature
506(7486)
:
97 -101
2014
view publication
-
Lek, M, MacArthur, D.
The Challenge of Next Generation Sequencing in the Context of Neuromuscular Diseases..
Journal of Neuromuscular Diseases
1(2)
:
135 -149
2014
view publication
-
Brownstein, CA, Beggs, AH, Homer, N, Merriman, B, Yu, TW, Flannery, KC, DeChene, ET, Towne, MC, Savage, SK, Price, EN, et al.
An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge.
Genome Biology
15(3)
:
r53
2014
view publication