| Genetic studies of body mass index yield new insights for obesity biology AE Locke, B Kahali, SI Berndt, AE Justice, TH Pers, FR Day, C Powell, ... Nature 518 (7538), 197-206, 2015 | 4455 | 2015 |
| Molecular basis of human hypertension: role of angiotensinogen X Jeunemaitre, F Soubrier, YV Kotelevtsev, RP Lifton, CS Williams, ... Cell 71 (1), 169-180, 1992 | 2546 | 1992 |
| Autoantibodies against type I IFNs in patients with life-threatening COVID-19 P Bastard, LB Rosen, Q Zhang, E Michailidis, HH Hoffmann, Y Zhang, ... Science 370 (6515), eabd4585, 2020 | 2284 | 2020 |
| De novo mutations revealed by whole-exome sequencing are strongly associated with autism SJ Sanders, MT Murtha, AR Gupta, JD Murdoch, MJ Raubeson, ... Nature 485 (7397), 237-241, 2012 | 2283 | 2012 |
| Molecular mechanisms of human hypertension RP Lifton, AG Gharavi, DS Geller Cell 104 (4), 545-556, 2001 | 2187 | 2001 |
| Inborn errors of type I IFN immunity in patients with life-threatening COVID-19 Q Zhang, P Bastard, Z Liu, J Le Pen, M Moncada-Velez, J Chen, M Ogishi, ... Science 370 (6515), eabd4570, 2020 | 2002 | 2020 |
| High bone density due to a mutation in LDL-receptor–related protein 5 LM Boyden, J Mao, J Belsky, L Mitzner, A Farhi, MA Mitnick, D Wu, ... New England Journal of Medicine 346 (20), 1513-1521, 2002 | 1921 | 2002 |
| Genetic diagnosis by whole exome capture and massively parallel DNA sequencing M Choi, UI Scholl, W Ji, T Liu, IR Tikhonova, P Zumbo, A Nayir, ... Proceedings of the National Academy of Sciences 106 (45), 19096-19101, 2009 | 1767 | 2009 |
| Human hypertension caused by mutations in WNK kinases FH Wilson, S Disse-Nicodeme, KA Choate, K Ishikawa, ... Science 293 (5532), 1107-1112, 2001 | 1597 | 2001 |
| Liddle's syndrome: heritable human hypertension caused by mutations in the β subunit of the epithelial sodium channel RA Shimkets, DG Warnock, CM Bositis, C Nelson-Williams, JH Hansson, ... Cell 79 (3), 407-414, 1994 | 1528 | 1994 |
| New genetic loci link adipose and insulin biology to body fat distribution D Shungin, TW Winkler, DC Croteau-Chonka, T Ferreira, AE Locke, ... Nature 518 (7538), 187-196, 2015 | 1526 | 2015 |
| Multiple recurrent de novo CNVs, including duplications of the 7q11. 23 Williams syndrome region, are strongly associated with autism SJ Sanders, AG Ercan-Sencicek, V Hus, R Luo, MT Murtha, ... Neuron 70 (5), 863-885, 2011 | 1447 | 2011 |
| A chimaeric llβ-hydroxylase/aldosterone synthase gene causes glucocorticoid-remediable aldosteronism and human hypertension RP Lifton, RG Dluhy, M Powers, GM Rich, S Cook, S Ulick, JM Lalouel Nature 355 (6357), 262-265, 1992 | 1408 | 1992 |
| Gitelman's variant of Barter's syndrome, inherited hypokalaemic alkalosis, is caused by mutations in the thiazide-sensitive Na–Cl cotransporter DB Simon, C Nelson-Williams, M Johnson Bia, D Ellison, FE Karet, ... Nature genetics 12 (1), 24-30, 1996 | 1367 | 1996 |
| Exome sequencing identifies recurrent somatic RAC1 mutations in melanoma M Krauthammer, Y Kong, BH Ha, P Evans, A Bacchiocchi, JP McCusker, ... Nature genetics 44 (9), 1006-1014, 2012 | 1297 | 2012 |
| Paracellin-1, a renal tight junction protein required for paracellular Mg2+ resorption DB Simon, Y Lu, KA Choate, H Velazquez, E Al-Sabban, M Praga, ... Science 285 (5424), 103-106, 1999 | 1291 | 1999 |
| Sequence Variants in SLITRK1 Are Associated with Tourette's Syndrome JF Abelson, KY Kwan, BJ O'Roak, DY Baek, AA Stillman, TM Morgan, ... Science 310 (5746), 317-320, 2005 | 1153 | 2005 |
| K+ channel mutations in adrenal aldosterone-producing adenomas and hereditary hypertension M Choi, UI Scholl, P Yue, P Björklund, B Zhao, C Nelson-Williams, W Ji, ... Science 331 (6018), 768-772, 2011 | 1045 | 2011 |
| Bartter's syndrome, hypokalaemic alkalosis with hypercalciuria, is caused by mutations in the Na–K–2CI cotransporter NKCC2 DB Simon, FE Karet, JM Hamdan, AD Pietro, SA Sanjad, RP Lifton Nature genetics 13 (2), 183-188, 1996 | 1039 | 1996 |
| Mutations in the chloride channel gene, CLCNKB, cause Bartter's syndrome type III DB Simon, RS Bindra, TA Mansfield, C Nelson-Williams, E Mendonca, ... Nature genetics 17 (2), 171-178, 1997 | 982 | 1997 |
