-
Merkle, FT, Ghosh, S, Genovese, G, Handsaker, RE, Kashin, S, Meyer, D, Karczewski, KJ, O’Dushlaine, C, Pato, C, Pato, M, et al.
Whole-genome analysis of human embryonic stem cells enables rational line selection based on genetic variation.
Cell Stem Cell
29(3)
:
472 -486.e7
2022
view publication
-
Richardson, E, Krishnan, N, Stafford, F, Yeates, L, Nowak, N, McGaughran, J, Wildschutt, J, Smith, J, Turner, C, Kevin, L, et al.
The Elusive Hearts Study: Seeking Genetic Diagnoses in Gene-elusive Cases of Rare Monogenic Cardiovascular Diseases.
Heart Lung and Circulation
31:
s17
2022
view publication
-
Butters, A, Do, J, Stafford, F, Krishnan, N, Brown, J, Hespe, S, Richardson, E, Bagnall, R, Bhaskaran, A, Burns, C, et al.
NSW HEARTS: The NSW Inherited Cardiomyopathy Cohort Study protocol.
Heart Lung and Circulation
31:
s4
2022
view publication
-
Lappalainen, T, MacArthur, DG.
From variant to function in human disease genetics.
Science
373(6562)
:
1464 -1468
2021
view publication
-
Gudmundsson, S, Karczewski, KJ, Francioli, LC, Tiao, G, Cummings, BB, Alföldi, J, Wang, Q, Collins, RL, Laricchia, KM, Ganna, A, et al.
Addendum: The mutational constraint spectrum quantified from variation in 141,456 humans.
Nature
597(7874)
:
e3 -e4
2021
view publication