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Richard P. Lifton
Richard P. Lifton
在 rockefeller.edu 的电子邮件经过验证 - 首页
标题
引用次数
引用次数
年份
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
46952015
Molecular basis of human hypertension: role of angiotensinogen
X Jeunemaitre, F Soubrier, YV Kotelevtsev, RP Lifton, CS Williams, ...
Cell 71 (1), 169-180, 1992
25781992
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
25182020
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
23442012
Molecular mechanisms of human hypertension
RP Lifton, AG Gharavi, DS Geller
Cell 104 (4), 545-556, 2001
22562001
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
21792020
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
19612002
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
18362009
Human hypertension caused by mutations in WNK kinases
FH Wilson, S Disse-Nicodeme, KA Choate, K Ishikawa, ...
Science 293 (5532), 1107-1112, 2001
16612001
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
16312015
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
15741994
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
14832011
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
14511992
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
14171996
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
13461999
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
13292012
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
12242005
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
10971996
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
10862011
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
10191997
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