Lifton, Richard P.

Exome sequencing links mutations in PARN and RTEL1 with familial pulmonary fibrosis and telomere shortening

Stuart, B. D., Choi, J., Zaidi, S., Xing, C., Holohan, B., Chen, R., Choi, M., Dharwadkar, P., Torres, F., Girod, C. E., et al. (2015) · Nature Genetics

Interstitial Lung Diseases and Idiopathic Pulmonary FibrosisTelomeres, Telomerase, and Senescence

Cited by 469

Apolipoprotein C3 gene variants in nonalcoholic fatty liver disease

Petersen, K. F., Dufour, S., Hariri, A., Nelson-Williams, C., Foo, J. N., Zhang, X.-M., Dziura, J., Lifton, R. P., & Shulman, G. I. (2010) · New England Journal of Medicine

Liver Disease Diagnosis and TreatmentLipid metabolism and disorders

Cited by 428

Mutations in the mineralocorticoid receptor gene cause autosomal dominant pseudohypoaldosteronism type I

Geller, D. S., Rodriguez-Soriano, J., Boado, A. V., Schifter, S., Bayer, M., Chang, S. S., & Lifton, R. P. (1998) · Nature Genetics

Hormonal Regulation and HypertensionIon Transport and Channel Regulation

Cited by 417

A novel form of human mendelian hypertension featuring nonglucocorticoid-remediable aldosteronism

Geller, D. S., Zhang, J., Wisgerhof, M. V., Shackleton, C., Kashgarian, M., & Lifton, R. P. (2008) · The Journal of Clinical Endocrinology & Metabolism

Hormonal Regulation and HypertensionRenin-Angiotensin System Studies

Cited by 296

Increased Frequency of De Novo Copy Number Variants in Congenital Heart Disease by Integrative Analysis of Single Nucleotide Polymorphism Array and Exome Sequence Data

Glessner, J. T., Bick, A. G., Ito, K., Homsy, J. G., Rodriguez-Murillo, L., Fromer, M., Mazaika, E., Vardarajan, B., Italia, M., Leipzig, J., et al. (2014) · Circulation Research

Genomic variations and chromosomal abnormalitiesCongenital heart defects research

Cited by 268

Molecular and cellular reorganization of neural circuits in the human lineage

Sousa, A. M. M., Zhu, Y., Raghanti, M. A., Kitchen, R. R., Onorati, M., Tebbenkamp, A. T. N., Stutz, B., Meyer, K. A., Li, M., Kawasawa, Y. I., et al. (2017) · Science

Single-cell and spatial transcriptomicsNeurogenesis and neuroplasticity mechanisms

Cited by 253

Modeling non-syndromic autism and the impact of TRPC6 disruption in human neurons

Griesi-Oliveira, K., Acab, A., Gupta, A. R., Sunaga, D. Y., Chailangkarn, T., Nicol, X., Nunez, Y., Walker, M. F., Murdoch, J. D., Sanders, S. J., et al. (2015) · Molecular Psychiatry

Genetics and Neurodevelopmental DisordersAutism Spectrum Disorder Research

Cited by 236

Isolated polycystic liver disease genes define effectors of polycystin-1 function

Besse, W., Dong, K., Choi, J., Punia, S., Fedeles, S. V., Choi, M., Gallagher, A.-R., Huang, E. B., Gulati, A., Knight, J., et al. (2017) · Journal of Clinical Investigation

Genetic and Kidney Cyst DiseasesCystic Fibrosis Research Advances

Cited by 203

Comprehensive re-sequencing of adrenal aldosterone producing lesions reveal three somatic mutations near the KCNJ5 potassium channel selectivity filter

Åkerström, T., Crona, J., Delgado Verdugo, A., Starker, L. F., Cupisti, K., Willenberg, H. S., Knoefel, W. T., Saeger, W., Feller, A., Ip, J., et al. (2012) · PLoS ONE

Hormonal Regulation and HypertensionAdrenal and Paraganglionic Tumors

Cited by 188

Glucocorticoid-remediable aldosteronism

Dluhy, R. G., & Lifton, R. P. (1999) · The Journal of Clinical Endocrinology & Metabolism

Hormonal Regulation and HypertensionAdrenal Hormones and Disorders

Cited by 74

Association of Damaging Variants in Genes With Increased Cancer Risk Among Patients With Congenital Heart Disease

Morton, S. U., Shimamura, A., Newburger, P. E., Opotowsky, A. R., Quiat, D., Pereira, A. C., Jin, S. C., Gurvitz, M., Brueckner, M., Chung, W. K., et al. (2021) · JAMA Cardiology

Congenital Heart Disease StudiesGenomics and Rare Diseases

Cited by 62

Systems Analysis Implicates WAVE2 Complex in the Pathogenesis of Developmental Left-Sided Obstructive Heart Defects

Edwards, J. J., Rouillard, A. D., Fernandez, N. F., Wang, Z., Lachmann, A., Shankaran, S. S., Bisgrove, B. W., Demarest, B., Turan, N., Srivastava, D., et al. (2020) · JACC: Basic to Translational Science

Congenital heart defects researchCardiomyopathy and Myosin Studies

Cited by 27

Inherited Disorders of Renal Salt Homeostasis

Scholl, U. I., & Lifton, R. P. (2013) · Seldin and Giebisch's The Kidney

Ion Transport and Channel RegulationRenin-Angiotensin System Studies

Cited by 10

LRRC23 truncation impairs radial spoke 3 head assembly and sperm motility underlying male infertility

Hwang, J. Y., Chai, P., Nawaz, S., Choi, J., Lopez-Giraldez, F., Hussain, S., Bilguvar, K., Mane, S., Lifton, R. P., Ahmad, W., et al. (2023) · eLife

Sperm and Testicular FunctionGenetic and Kidney Cyst Diseases

Cited by 9

AXIN1 mutations in nonsyndromic craniosynostosis

Timberlake, A. T., Hemal, K., Gustafson, J. A., Hao, L. T., Valenzuela, I., Slavotinek, A., Cunningham, M. L., Kahle, K. T., Lifton, R. P., & Persing, J. A. (2024) · Journal of Neurosurgery: Pediatrics

Craniofacial Disorders and TreatmentsGenomics and Rare Diseases

Cited by 3

LRRC23 truncation impairs radial spoke 3 head assembly and sperm motility underlying male infertility

Hwang, J. Y., Chai, P., Nawaz, S., Choi, J., Lopez-Giraldez, F., Hussain, S., Bilguvar, K., Mane, S., Lifton, R. P., Ahmad, W., et al. (2023) · eLife

Sperm and Testicular FunctionGenetic and Kidney Cyst Diseases

Cited by 2