Lifton, Richard P.

Genetic studies of body mass index yield new insights for obesity biology

Study, T. L. C., Locke, A. E., The ADIPOGen Consortium, The AGEN-BMI Working Group, The CARDIOGRAMplusC4D Consortium, The CKDGen Consortium, The, G. L. G. C., The, I. C. B. P., The MAGIC Investigators, The MuTHER Consortium, et al. (2015) · Nature

Genetic Associations and EpidemiologyGenetic Mapping and Diversity in Plants and Animals

Cited by 4,534

Autoantibodies against type I IFNs in patients with life-threatening COVID-19

Bastard, P., Rosen, L. B., Zhang, Q., Michailidis, E., Hoffmann, H.-H., Zhang, Y., Dorgham, K., Philippot, Q., Rosain, J., Béziat, V., et al. (2020) · Science

interferon and immune responsesSARS-CoV-2 and COVID-19 Research

Cited by 2,662

Inborn errors of type I IFN immunity in patients with life-threatening COVID-19

Zhang, Q., Bastard, P., Liu, Z., Le Pen, J., Moncada-Velez, M., Chen, J., Ogishi, M., Sabli, I. K. D., Hodeib, S., Korol, C., et al. (2020) · Science

interferon and immune responsesSARS-CoV-2 and COVID-19 Research

Cited by 2,229

De novo mutations revealed by whole-exome sequencing are strongly associated with autism

Sanders, S. J., Murtha, M. T., Gupta, A. R., Murdoch, J. D., Raubeson, M. J., Willsey, A. J., Ercan-Sencicek, A. G., DiLullo, N. M., Parikshak, N. N., Stein, J. L., et al. (2012) · Nature

Autism Spectrum Disorder ResearchGenetics and Neurodevelopmental Disorders

Cited by 2,084

Molecular Mechanisms of Human Hypertension

Lifton, R. P., Gharavi, A. G., & Geller, D. S. (2001) · Cell

Renin-Angiotensin System StudiesBlood Pressure and Hypertension Studies

Cited by 1,686

High Bone Density Due to a Mutation in LDL-Receptor–Related Protein 5

Boyden, L. M., Mao, J., Belsky, J., Mitzner, L., Farhi, A., Mitnick, M. A., Wu, D., Insogna, K., & Lifton, R. P. (2002) · New England Journal of Medicine

Bone Metabolism and DiseasesWnt/β-catenin signaling in development and cancer

Cited by 1,591

New genetic loci link adipose and insulin biology to body fat distribution

The ADIPOGen Consortium, Shungin, D., The CARDIOGRAMplusC4D Consortium, The CKDGen Consortium, The GEFOS Consortium, The GENIE Consortium, The, G. L. G. C., The, I. C. B. P., The International Endogene Consortium, Study, T. L. C., et al. (2015) · Nature

Genetic Associations and EpidemiologyAdipokines, Inflammation, and Metabolic Diseases

Cited by 1,580

Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism

Sanders, S. J., Ercan-Sencicek, A. G., Hus, V., Luo, R., Murtha, M. T., Moreno-De-Luca, D., Chu, S. H., Moreau, M. P., Gupta, A. R., Thomson, S. A., et al. (2011) · Neuron

Genomic variations and chromosomal abnormalitiesWilliams Syndrome Research

Cited by 1,263

Exome sequencing identifies recurrent somatic RAC1 mutations in melanoma

Krauthammer, M., Kong, Y., Ha, B. H., Evans, P., Bacchiocchi, A., McCusker, J. P., Cheng, E., Davis, M. J., Goh, G., Choi, M., et al. (2012) · Nature Genetics

Melanoma and MAPK PathwaysCutaneous Melanoma Detection and Management

Cited by 1,191

A chimaeric llβ-hydroxylase/aldosterone synthase gene causes glucocorticoid-remediable aldosteronism and human hypertension

Lifton, R. P., Dluhy, R. G., Powers, M., Rich, G. M., Cook, S., Ulick, S., & Lalouel, J.-M. (1992) · Nature

Hormonal Regulation and HypertensionAdrenal Hormones and Disorders

Cited by 1,158

Sequence Variants in SLITRK1 Are Associated with Tourette's Syndrome

Abelson, J. F., Kwan, K. Y., O'Roak, B. J., Baek, D. Y., Stillman, A. A., Morgan, T. M., Mathews, C. A., Pauls, D. L., Rašin, M.-R., Gunel, M., et al. (2005) · Science

Obsessive-Compulsive Spectrum DisordersGenetics and Neurodevelopmental Disorders

Cited by 940

De novo mutations in histone-modifying genes in congenital heart disease

Zaidi, S., Choi, M., Wakimoto, H., Ma, L., Jiang, J., Overton, J. D., Romano-Adesman, A., Bjornson, R. D., Breitbart, R. E., Brown, K. K., et al. (2013) · Nature

Congenital heart defects researchGenomics and Rare Diseases

Cited by 934

Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands

Jin, S. C., Homsy, J., Zaidi, S., Lu, Q., Morton, S., DePalma, S. R., Zeng, X., Qi, H., Chang, W., Sierant, M. C., et al. (2017) · Nature Genetics

Congenital heart defects researchGenomics and Rare Diseases

Cited by 875

Rare independent mutations in renal salt handling genes contribute to blood pressure variation

Ji, W., Foo, J. N., O'Roak, B. J., Zhao, H., Larson, M. G., Simon, D. B., Newton-Cheh, C., State, M. W., Levy, D., & Lifton, R. P. (2008) · Nature Genetics

Blood Pressure and Hypertension StudiesGenetic Associations and Epidemiology

Cited by 812

Integrative functional genomic analysis of human brain development and neuropsychiatric risks

Li, M., Santpere, G., Imamura Kawasawa, Y., Evgrafov, O. V., Gulden, F. O., Pochareddy, S., Sunkin, S. M., Li, Z., Shin, Y., Zhu, Y., et al. (2018) · Science

Genetics and Neurodevelopmental DisordersGenomics and Chromatin Dynamics

Cited by 810

Mutations in subunits of the epithelial sodium channel cause salt wasting with hyperkalaemic acidosis, pseudohypoaldosteronism type 1

Chang, S. S., Grunder, S., Hanukoglu, A., Rösler, A., Mathew, P. M., Hanukoglu, I., Schild, L., Lu, Y., Shimkets, R. A., Nelson-Williams, C., et al. (1996) · Nature Genetics

Ion Transport and Channel RegulationIon channel regulation and function

Cited by 808

Impaired HLA Class I Antigen Processing and Presentation as a Mechanism of Acquired Resistance to Immune Checkpoint Inhibitors in Lung Cancer

Gettinger, S., Choi, J., Hastings, K., Truini, A., Datar, I., Sowell, R., Wurtz, A., Dong, W., Cai, G., Melnick, M. A., et al. (2017) · Cancer Discovery

Cancer Immunotherapy and BiomarkersImmunotherapy and Immune Responses

Cited by 787

Vaccine Breakthrough Infections with SARS-CoV-2 Variants

Hacisuleyman, E., Hale, C., Saito, Y., Blachere, N. E., Bergh, M., Conlon, E. G., Schaefer-Babajew, D. J., DaSilva, J., Muecksch, F., Gaebler, C., et al. (2021) · New England Journal of Medicine

SARS-CoV-2 and COVID-19 ResearchCOVID-19 Clinical Research Studies

Cited by 716

Activating mineralocorticoid receptor mutation in hypertension exacerbated by pregnancy

Geller, D. S., Farhi, A., Pinkerton, N., Fradley, M., Moritz, M., Spitzer, A., Meinke, G., Tsai, F. T. F., Sigler, P. B., & Lifton, R. P. (2000) · Science

Hormonal Regulation and HypertensionEstrogen and related hormone effects

Cited by 675

A single-gene cause in 29.5% of cases of steroid-resistant nephrotic syndrome

Sadowski, C. E., Lovric, S., Ashraf, S., Pabst, W. L., Gee, H. Y., Kohl, S., Engelmann, S., Vega-Warner, V., Fang, H., Halbritter, J., et al. (2015) · Journal of the American Society of Nephrology

Renal Diseases and GlomerulopathiesRenal and related cancers

Cited by 651

The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities

Chong, J. X., Buckingham, K. J., Jhangiani, S. N., Boehm, C., Sobreira, N., Smith, J. D., Harrell, T. M., McMillin, M. J., Wiszniewski, W., Gambin, T., et al. (2015) · The American Journal of Human Genetics

Genomics and Rare DiseasesGenetic Associations and Epidemiology

Cited by 643

Somatic and germline CACNA1D calcium channel mutations in aldosterone-producing adenomas and primary aldosteronism

Scholl, U. I., Goh, G., Stölting, G., de Oliveira, R. C., Choi, M., Overton, J. D., Fonseca, A. L., Korah, R., Starker, L. F., Kunstman, J. W., et al. (2013) · Nature Genetics

Hormonal Regulation and HypertensionIon channel regulation and function

Cited by 627

Molecular cytogenetic analysis and resequencing of contactin associated protein-like 2 in autism spectrum disorders

Bakkaloglu, B., O'Roak, B. J., Louvi, A., Gupta, A. R., Abelson, J. F., Morgan, T. M., Chawarska, K., Klin, A., Ercan-Sencicek, A. G., Stillman, A. A., et al. (2008) · The American Journal of Human Genetics

Autism Spectrum Disorder ResearchGenetics and Neurodevelopmental Disorders

Cited by 537

Whole-exome sequencing identifies recessive WDR62 mutations in severe brain malformations

Bilgüvar, K., Öztürk, A. K., Louvi, A., Kwan, K. Y., Choi, M., Tatlı, B., Yalnızoğlu, D., Tüysüz, B., Çağlayan, A. O., Gökben, S., et al. (2010) · Nature

Fetal and Pediatric Neurological DisordersGenetics and Neurodevelopmental Disorders

Cited by 503