| Year |
Citation |
Score |
| 2023 |
Zhao S, Mekbib KY, van der Ent MA, Allington G, Prendergast A, Chau JE, Smith H, Shohfi J, Ocken J, Duran D, Furey CG, Hao LT, Duy PQ, Reeves BC, Zhang J, ... ... Lifton RP, et al. Mutation of key signaling regulators of cerebrovascular development in vein of Galen malformations. Nature Communications. 14: 7452. PMID 37978175 DOI: 10.1038/s41467-023-43062-z |
0.547 |
|
| 2023 |
Kiryluk K, Sanchez-Rodriguez E, Zhou XJ, Zanoni F, Liu L, Mladkova N, Khan A, Marasa M, Zhang JY, Balderes O, Sanna-Cherchi S, Bomback AS, Canetta PA, Appel GB, Radhakrishnan J, ... ... Lifton RP, et al. Genome-wide association analyses define pathogenic signaling pathways and prioritize drug targets for IgA nephropathy. Nature Genetics. PMID 37337107 DOI: 10.1038/s41588-023-01422-x |
0.465 |
|
| 2023 |
Khoshkhoo S, Wang Y, Chahine Y, Erson-Omay EZ, Robert SM, Kiziltug E, Damisah EC, Nelson-Williams C, Zhu G, Kong W, Huang AY, Stronge E, Phillips HW, Chhouk BH, Bizzotto S, ... ... Lifton RP, et al. Contribution of Somatic Ras/Raf/Mitogen-Activated Protein Kinase Variants in the Hippocampus in Drug-Resistant Mesial Temporal Lobe Epilepsy. Jama Neurology. PMID 37126322 DOI: 10.1001/jamaneurol.2023.0473 |
0.458 |
|
| 2023 |
Timberlake AT, McGee S, Allington G, Kiziltug E, Wolfe EM, Stiegler AL, Boggon TJ, Sanyoura M, Morrow M, Wenger TL, Fernandes EM, Caluseriu O, Persing JA, Jin SC, Lifton RP, et al. De novo variants implicate chromatin modification, transcriptional regulation, and retinoic acid signaling in syndromic craniosynostosis. American Journal of Human Genetics. PMID 37086723 DOI: 10.1016/j.ajhg.2023.03.017 |
0.543 |
|
| 2023 |
Singh AK, Viviano S, Allington G, McGee S, Kiziltug E, Mekbib KY, Shohfi JP, Duy PQ, DeSpenza T, Furey CG, Reeves BC, Smith H, Ma S, Sousa AMM, Cherskov A, ... ... Lifton RP, et al. A novel -mutant BAFopathy implicates epigenetic dysregulation of neural progenitors in hydrocephalus. Medrxiv : the Preprint Server For Health Sciences. PMID 36993720 DOI: 10.1101/2023.03.19.23287455 |
0.489 |
|
| 2023 |
Zhao S, Mekbib KY, van der Ent MA, Allington G, Prendergast A, Chau JE, Smith H, Shohfi J, Ocken J, Duran D, Furey CG, Le HT, Duy PQ, Reeves BC, Zhang J, ... ... Lifton RP, et al. Genetic dysregulation of an endothelial Ras signaling network in vein of Galen malformations. Biorxiv : the Preprint Server For Biology. PMID 36993588 DOI: 10.1101/2023.03.18.532837 |
0.502 |
|
| 2023 |
Kundishora AJ, Allington G, McGee S, Mekbib KY, Gainullin V, Timberlake AT, Nelson-Williams C, Kiziltug E, Smith H, Ocken J, Shohfi J, Allocco A, Duy PQ, Elsamadicy AA, Dong W, ... ... Lifton RP, et al. Multiomic analyses implicate a neurodevelopmental program in the pathogenesis of cerebral arachnoid cysts. Nature Medicine. PMID 36879130 DOI: 10.1038/s41591-023-02238-2 |
0.496 |
|
| 2023 |
Robert SM, Reeves BC, Kiziltug E, Duy PQ, Karimy JK, Mansuri MS, Marlier A, Allington G, Greenberg ABW, DeSpenza T, Singh AK, Zeng X, Mekbib KY, Kundishora AJ, Nelson-Williams C, ... ... Lifton RP, et al. The choroid plexus links innate immunity to CSF dysregulation in hydrocephalus. Cell. 186: 764-785.e21. PMID 36803604 DOI: 10.1016/j.cell.2023.01.017 |
0.593 |
|
| 2022 |
Klämbt V, Buerger F, Wang C, Naert T, Richter K, Nauth T, Weiss AC, Sieckmann T, Lai E, Connaughton D, Seltzsam S, Mann N, Majmundar A, Wu CH, Onuchic-Whitford A, ... ... Lifton RP, et al. Genetic Variants in ARHGEF6 Cause Congenital Anomalies of the Kidneys and Urinary Tract in Humans, Mice, and Frogs. Journal of the American Society of Nephrology : Jasn. PMID 36414417 DOI: 10.1681/ASN.2022010050 |
0.323 |
|
| 2022 |
Gauhar Z, Tejwani L, Abdullah U, Saeed S, Shafique S, Badshah M, Choi J, Dong W, Nelson-Williams C, Lifton RP, Lim J, Raja GK. A Novel Missense Mutation in Co-Segregates with Cerebellar Ataxia in a Consanguineous Pakistani Family. Cells. 11. PMID 36231052 DOI: 10.3390/cells11193090 |
0.383 |
|
| 2022 |
Timberlake AT, Kiziltug E, Jin SC, Nelson-Williams C, Loring E, Allocco A, Marlier A, Banka S, Stuart H, Passos-Buenos MR, Rosa R, Rogatto SR, Tonne E, Stiegler AL, Boggon TJ, ... ... Lifton RP, et al. De novo mutations in the BMP signaling pathway in lambdoid craniosynostosis. Human Genetics. PMID 35997807 DOI: 10.1007/s00439-022-02477-2 |
0.61 |
|
| 2022 |
Duy PQ, Timberlake AT, Lifton RP, Kahle KT. Molecular genetics of human developmental neurocranial anomalies: towards "precision surgery". Cerebral Cortex (New York, N.Y. : 1991). PMID 35739418 DOI: 10.1093/cercor/bhac249 |
0.509 |
|
| 2022 |
Duy PQ, Weise SC, Marini C, Li XJ, Liang D, Dahl PJ, Ma S, Spajic A, Dong W, Juusola J, Kiziltug E, Kundishora AJ, Koundal S, Pedram MZ, Torres-Fernández LA, ... ... Lifton RP, et al. Impaired neurogenesis alters brain biomechanics in a neuroprogenitor-based genetic subtype of congenital hydrocephalus. Nature Neuroscience. PMID 35379995 DOI: 10.1038/s41593-022-01043-3 |
0.517 |
|
| 2021 |
Barak T, Ristori E, Ercan-Sencicek AG, Miyagishima DF, Nelson-Williams C, Dong W, Jin SC, Prendergast A, Armero W, Henegariu O, Erson-Omay EZ, Harmancı AS, Guy M, Gültekin B, Kilic D, ... ... Lifton RP, et al. PPIL4 is essential for brain angiogenesis and implicated in intracranial aneurysms in humans. Nature Medicine. 27: 2165-2175. PMID 34887573 DOI: 10.1038/s41591-021-01572-7 |
0.575 |
|
| 2021 |
Sun Q, Burgren NM, Cheraghlou S, Paller AS, Larralde M, Bercovitch L, Levinsohn J, Ren I, Hu RH, Zhou J, Zaki T, Fan R, Tian C, Saraceni C, Nelson-Williams CJ, ... ... Lifton RP, et al. The Genomic and Phenotypic Landscape of Ichthyosis: An Analysis of 1000 Kindreds. Jama Dermatology. PMID 34851365 DOI: 10.1001/jamadermatol.2021.4242 |
0.79 |
|
| 2021 |
Kundishora AJ, Peters ST, Pinard A, Duran D, Panchagnula S, Barak T, Miyagishima DF, Dong W, Smith H, Ocken J, Dunbar A, Nelson-Williams C, Haider S, Walker RL, Li B, ... ... Lifton RP, et al. DIAPH1 Variants in Non-East Asian Patients With Sporadic Moyamoya Disease. Jama Neurology. PMID 34125151 DOI: 10.1001/jamaneurol.2021.1681 |
0.497 |
|
| 2021 |
Mao Y, Schneider R, van der Ven PFM, Assent M, Lohanadan K, Klämbt V, Buerger F, Kitzler TM, Deutsch K, Nakayama M, Majmundar AJ, Mann N, Hermle T, Onuchic-Whitford AC, Zhou W, ... ... Lifton RP, et al. Recessive Mutations in as a Candidate of Monogenic Nephrotic Syndrome. Kidney International Reports. 6: 472-483. PMID 33615072 DOI: 10.1016/j.ekir.2020.10.040 |
0.342 |
|
| 2021 |
Weng PL, Majmundar AJ, Khan K, Lim TY, Shril S, Jin G, Musgrove J, Wang M, Ahram DF, Aggarwal VS, Bier LE, Heinzen EL, Onuchic-Whitford AC, Mann N, Buerger F, ... ... Lifton RP, et al. De novo TRIM8 variants impair its protein localization to nuclear bodies and cause developmental delay, epilepsy, and focal segmental glomerulosclerosis. American Journal of Human Genetics. PMID 33508234 DOI: 10.1016/j.ajhg.2021.01.008 |
0.305 |
|
| 2020 |
Dong W, Jin SC, Allocco A, Zeng X, Sheth AH, Panchagnula S, Castonguay A, Lorenzo LÉ, Islam B, Brindle G, Bachand K, Hu J, Sularz A, Gaillard J, Choi J, ... ... Lifton RP, et al. Exome Sequencing Implicates Impaired GABA Signaling and Neuronal Ion Transport in Trigeminal Neuralgia. Iscience. 23: 101552. PMID 33083721 DOI: 10.1016/J.Isci.2020.101552 |
0.563 |
|
| 2020 |
Jin SC, Dong W, Kundishora AJ, Panchagnula S, Moreno-De-Luca A, Furey CG, Allocco AA, Walker RL, Nelson-Williams C, Smith H, Dunbar A, Conine S, Lu Q, Zeng X, Sierant MC, ... ... Lifton RP, et al. Exome sequencing implicates genetic disruption of prenatal neuro-gliogenesis in sporadic congenital hydrocephalus. Nature Medicine. PMID 33077954 DOI: 10.1038/s41591-020-1090-2 |
0.688 |
|
| 2020 |
Elfert KA, Geller DS, Nelson-Williams C, Lifton RP, Al-Malki H, Nauman A. Late-Onset Bartter Syndrome Type II Due to a Homozygous Mutation in KCNJ1 Gene: A Case Report and Literature Review. The American Journal of Case Reports. 21: e924527. PMID 32997650 DOI: 10.12659/AJCR.924527 |
0.341 |
|
| 2020 |
Jin SC, Lewis SA, Bakhtiari S, Zeng X, Sierant MC, Shetty S, Nordlie SM, Elie A, Corbett MA, Norton BY, van Eyk CL, Haider S, Guida BS, Magee H, Liu J, ... ... Lifton RP, et al. Mutations disrupting neuritogenesis genes confer risk for cerebral palsy. Nature Genetics. PMID 32989326 DOI: 10.1038/s41588-020-0695-1 |
0.345 |
|
| 2020 |
Connaughton DM, Dai R, Owen DJ, Marquez J, Mann N, Graham-Paquin AL, Nakayama M, Coyaud E, Laurent EMN, St-Germain JR, Blok LS, Vino A, Klämbt V, Deutsch K, Wu CW, ... ... Lifton RP, et al. Mutations of the Transcriptional Corepressor ZMYM2 Cause Syndromic Urinary Tract Malformations. American Journal of Human Genetics. PMID 32891193 DOI: 10.1016/J.Ajhg.2020.08.013 |
0.486 |
|
| 2020 |
Kerner G, Bouaziz M, Cobat A, Bigio B, Timberlake AT, Bustamante J, Lifton RP, Casanova JL, Abel L. A genome-wide case-only test for the detection of digenic inheritance in human exomes. Proceedings of the National Academy of Sciences of the United States of America. 117: 19367-19375. PMID 32719112 DOI: 10.1073/Pnas.1920650117 |
0.327 |
|
| 2020 |
Boyden LM, Zhou J, Hu R, Zaki T, Loring E, Scott J, Traupe H, Paller AS, Lifton RP, Choate KA. Mutations in ASPRV1 Cause Dominantly Inherited Ichthyosis. American Journal of Human Genetics. PMID 32516568 DOI: 10.1016/J.Ajhg.2020.05.013 |
0.833 |
|
| 2020 |
Edwards JJ, Rouillard AD, Fernandez NF, Wang Z, Lachmann A, Shankaran SS, Bisgrove BW, Demarest B, Turan N, Srivastava D, Bernstein D, Deanfield J, Giardini A, Porter G, Kim R, ... ... Lifton RP, et al. Systems Analysis Implicates WAVE2 Complex in the Pathogenesis of Developmental Left-Sided Obstructive Heart Defects. Jacc. Basic to Translational Science. 5: 376-386. PMID 32368696 DOI: 10.1016/J.Jacbts.2020.01.012 |
0.319 |
|
| 2020 |
Hsieh A, Morton SU, Willcox JAL, Gorham JM, Tai AC, Qi H, DePalma S, McKean D, Griffin E, Manheimer KB, Bernstein D, Kim RW, Newburger JW, Porter GA, Srivastava D, ... ... Lifton RP, et al. EM-mosaic detects mosaic point mutations that contribute to congenital heart disease. Genome Medicine. 12: 42. PMID 32349777 DOI: 10.1186/S13073-020-00738-1 |
0.403 |
|
| 2020 |
Boyden L, Atzmony L, Zhou J, Lim Y, Hu R, Lifton R, Choate K. 294 Recessive mutations in AP1B1 cause ichthyosis, deafness, and blindness Journal of Investigative Dermatology. 140. DOI: 10.1016/J.Jid.2020.03.300 |
0.823 |
|
| 2019 |
Jobst-Schwan T, Klämbt V, Tarsio M, Heneghan JF, Majmundar AJ, Shril S, Buerger F, Ottlewski I, Shmukler BE, Topaloglu R, Hashmi S, Hafeez F, Emma F, Greco M, Laube GF, ... ... Lifton RP, et al. Whole exome sequencing identified ATP6V1C2 as a novel candidate gene for recessive distal renal tubular acidosis. Kidney International. PMID 31959358 DOI: 10.1016/J.Kint.2019.09.026 |
0.431 |
|
| 2019 |
Kampf LL, Schneider R, Gerstner L, Thünauer R, Chen M, Helmstädter M, Amar A, Onuchic-Whitford AC, Loza Munarriz R, Berdeli A, Müller D, Schrezenmeier E, Budde K, Mane S, Laricchia KM, ... ... Lifton RP, et al. Mutations Implicate RAB11-Dependent Vesicular Trafficking in the Pathogenesis of Nephrotic Syndrome. Journal of the American Society of Nephrology : Jasn. PMID 31732614 DOI: 10.1681/Asn.2019040414 |
0.475 |
|
| 2019 |
Mann N, Kause F, Henze EK, Gharpure A, Shril S, Connaughton DM, Nakayama M, Klämbt V, Majmundar AJ, Wu CW, Kolvenbach CM, Dai R, Chen J, van der Ven AT, Ityel H, ... ... Lifton RP, et al. CAKUT and Autonomic Dysfunction Caused by Acetylcholine Receptor Mutations. American Journal of Human Genetics. PMID 31708116 DOI: 10.1016/J.Ajhg.2019.10.004 |
0.448 |
|
| 2019 |
Boyden LM, Atzmony L, Hamilton C, Zhou J, Lim YH, Hu R, Pappas J, Rabin R, Ekstien J, Hirsch Y, Prendiville J, Lifton RP, Ferguson S, Choate KA. Recessive Mutations in AP1B1 Cause Ichthyosis, Deafness, and Photophobia. American Journal of Human Genetics. PMID 31630788 DOI: 10.1016/J.Ajhg.2019.09.021 |
0.813 |
|
| 2019 |
Zammataro L, Lopez S, Bellone S, Pettinella F, Bonazzoli E, Perrone E, Zhao S, Menderes G, Altwerger G, Han C, Zeybek B, Bianchi A, Manzano A, Manara P, Cocco E, ... ... Lifton RP, et al. Whole-exome sequencing of cervical carcinomas identifies activating ERBB2 and PIK3CA mutations as targets for combination therapy. Proceedings of the National Academy of Sciences of the United States of America. PMID 31624127 DOI: 10.1073/Pnas.1911385116 |
0.375 |
|
| 2019 |
Allocco AA, Jin SC, Duy PQ, Furey CG, Zeng X, Dong W, Nelson-Williams C, Karimy JK, DeSpenza T, Hao LT, Reeves B, Haider S, Gunel M, Lifton RP, Kahle KT. Recessive Inheritance of Congenital Hydrocephalus With Other Structural Brain Abnormalities Caused by Compound Heterozygous Mutations in . Frontiers in Cellular Neuroscience. 13: 425. PMID 31616254 DOI: 10.3389/Fncel.2019.00425 |
0.615 |
|
| 2019 |
Watanabe M, Zhang J, Mansuri MS, Duan J, Karimy JK, Delpire E, Alper SL, Lifton RP, Fukuda A, Kahle KT. Developmentally regulated KCC2 phosphorylation is essential for dynamic GABA-mediated inhibition and survival. Science Signaling. 12. PMID 31615901 DOI: 10.1126/Scisignal.Aaw9315 |
0.638 |
|
| 2019 |
Ververis A, Dajani R, Koutsou P, Aloqaily A, Nelson-Williams C, Loring E, Arafat A, Mubaidin AF, Horany K, Bader MB, Al-Baho Y, Ali B, Muhtaseb A, DeSpenza T, Al-Qudah AA, ... ... Lifton R, et al. Distal hereditary motor neuronopathy of the Jerash type is caused by a novel c.500A>T missense mutation. Journal of Medical Genetics. PMID 31511340 DOI: 10.1136/Jmedgenet-2019-106108 |
0.394 |
|
| 2019 |
Dong W, Baldwin C, Choi J, Milunsky JM, Zhang J, Bilguvar K, Lifton RP, Milunsky A. Identification of a Dominant MYH11 Causal Variant in Chronic Intestinal Pseudo-Obstruction: Results of Whole-Exome Sequencing. Clinical Genetics. PMID 31389005 DOI: 10.1111/Cge.13617 |
0.399 |
|
| 2019 |
Esteghamat F, Broughton JS, Smith E, Cardone R, Tyagi T, Guerra M, Szabó A, Ugwu N, Mani MV, Azari B, Kayingo G, Chung S, Fathzadeh M, Weiss E, Bender J, ... ... Lifton RP, et al. CELA2A mutations predispose to early-onset atherosclerosis and metabolic syndrome and affect plasma insulin and platelet activation. Nature Genetics. PMID 31358993 DOI: 10.1038/S41588-019-0470-3 |
0.371 |
|
| 2019 |
Wang M, Chun J, Genovese G, Knob AU, Benjamin A, Wilkins MS, Friedman DJ, Appel GB, Lifton RP, Mane S, Pollak MR. Contributions of Rare Gene Variants to Familial and Sporadic FSGS. Journal of the American Society of Nephrology : Jasn. PMID 31308072 DOI: 10.1681/Asn.2019020152 |
0.361 |
|
| 2019 |
Timberlake AT, Jin SC, Nelson-Williams C, Wu R, Furey CG, Islam B, Haider S, Loring E, Galm A, Steinbacher DM, Larysz D, Staffenberg DA, Flores RL, Rodriguez ED, ... ... Lifton RP, et al. Mutations in and previously unimplicated genes of the BMP, Wnt, and Hedgehog pathways in syndromic craniosynostosis. Proceedings of the National Academy of Sciences of the United States of America. PMID 31292255 DOI: 10.1073/Pnas.1902041116 |
0.478 |
|
| 2019 |
Robson A, Makova SZ, Barish S, Zaidi S, Mehta S, Drozd J, Jin SC, Gelb BD, Seidman CE, Chung WK, Lifton RP, Khokha MK, Brueckner M. Histone H2B monoubiquitination regulates heart development via epigenetic control of cilia motility. Proceedings of the National Academy of Sciences of the United States of America. PMID 31235600 DOI: 10.1073/Pnas.1808341116 |
0.374 |
|
| 2019 |
Kitzler TM, Schneider R, Kohl S, Kolvenbach CM, Connaughton DM, Dai R, Mann N, Nakayama M, Majmundar AJ, Wu CW, Kari JA, El Desoky SM, Senguttuvan P, Bogdanovic R, Stajic N, ... ... Lifton RP, et al. COL4A1 mutations as a potential novel cause of autosomal dominant CAKUT in humans. Human Genetics. PMID 31230195 DOI: 10.1007/S00439-019-02042-4 |
0.501 |
|
| 2019 |
Connaughton DM, Kennedy C, Shril S, Mann N, Murray SL, Williams PA, Conlon E, Nakayama M, van der Ven AT, Ityel H, Kause F, Kolvenbach CM, Dai R, Vivante A, Braun DA, ... ... Lifton RP, et al. Monogenic causes of chronic kidney disease in adults. Kidney International. PMID 30773290 DOI: 10.1016/J.Kint.2018.10.031 |
0.319 |
|
| 2019 |
Ishizawa K, Wang Q, Li J, Yamazaki O, Tamura Y, Fujigaki Y, Uchida S, Lifton RP, Shibata S. Calcineurin dephosphorylates Kelch-like 3, reversing phosphorylation by angiotensin II and regulating renal electrolyte handling. Proceedings of the National Academy of Sciences of the United States of America. PMID 30718414 DOI: 10.1073/Pnas.1817281116 |
0.328 |
|
| 2019 |
Posey JE, O'Donnell-Luria AH, Chong JX, Harel T, Jhangiani SN, Coban Akdemir ZH, Buyske S, Pehlivan D, Carvalho CMB, Baxter S, Sobreira N, Liu P, Wu N, Rosenfeld JA, Kumar S, ... ... Lifton RP, et al. Insights into genetics, human biology and disease gleaned from family based genomic studies. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 30655598 DOI: 10.1038/S41436-018-0408-7 |
0.387 |
|
| 2019 |
Mann N, Braun DA, Amann K, Tan W, Shril S, Connaughton DM, Nakayama M, Schneider R, Kitzler TM, van der Ven AT, Chen J, Ityel H, Vivante A, Majmundar AJ, Daga A, ... ... Lifton RP, et al. Whole-Exome Sequencing Enables a Precision Medicine Approach for Kidney Transplant Recipients. Journal of the American Society of Nephrology : Jasn. PMID 30655312 DOI: 10.1681/Asn.2018060575 |
0.304 |
|
| 2019 |
Choi YJ, Halbritter J, Braun DA, Schueler M, Schapiro D, Rim JH, Nandadasa S, Choi WI, Widmeier E, Shril S, Körber F, Sethi SK, Lifton RP, Beck BB, Apte SS, et al. Mutations of ADAMTS9 Cause Nephronophthisis-Related Ciliopathy. American Journal of Human Genetics. 104: 45-54. PMID 30609407 DOI: 10.1016/J.Ajhg.2018.11.003 |
0.466 |
|
| 2019 |
Kundishora A, Zeng X, Duran D, Allocco AA, Choi J, Jin SC, Conine SB, Nelson-Williams C, Gaillard J, Furey CG, Timberlake AT, Mansuri M, Sorscher M, Klein J, Lu Q, ... ... Lifton RP, et al. Exome Sequencing Defines the Molecular Pathogenesis of Vein of Galen Malformation Neurosurgery. 66. DOI: 10.1093/Neuros/Nyz310_341 |
0.656 |
|
| 2019 |
Allocco AA, Jin SC, Dong W, Zeng X, Conine SB, Furey CG, Date PP, Gaillard J, Nelson-Williams C, Dunbar A, DeSpenza T, Deniz E, Khokha MK, Lifton RP, Kahle KT. Exome Sequencing Implicates SWI/SNF Chromatin Remodeling Genes in Human Congenital Hydrocephalus Neurosurgery. 66. DOI: 10.1093/Neuros/Nyz310_133 |
0.58 |
|
| 2018 |
Li C, Bonazzoli E, Bellone S, Choi J, Dong W, Menderes G, Altwerger G, Han C, Manzano A, Bianchi A, Pettinella F, Manara P, Lopez S, Yadav G, Riccio F, ... ... Lifton RP, et al. Mutational landscape of primary, metastatic, and recurrent ovarian cancer reveals c-MYC gains as potential target for BET inhibitors. Proceedings of the National Academy of Sciences of the United States of America. PMID 30584090 DOI: 10.1073/Pnas.1814027116 |
0.375 |
|
| 2018 |
Duran D, Zeng X, Jin SC, Choi J, Nelson-Williams C, Yatsula B, Gaillard J, Furey CG, Lu Q, Timberlake AT, Dong W, Sorscher MA, Loring E, Klein J, Allocco A, ... ... Lifton RP, et al. Mutations in Chromatin Modifier and Ephrin Signaling Genes in Vein of Galen Malformation. Neuron. PMID 30578106 DOI: 10.1016/J.Neuron.2018.11.041 |
0.727 |
|
| 2018 |
Meyers N, Nelson-Williams C, Malaga-Dieguez L, Kaufmann H, Loring E, Knight J, Lifton RP, Trachtman H. Hypokalemia Associated With a Claudin 10 Mutation: A Case Report. American Journal of Kidney Diseases : the Official Journal of the National Kidney Foundation. PMID 30482581 DOI: 10.1053/J.Ajkd.2018.08.015 |
0.48 |
|
| 2018 |
Duchatelet S, Boyden LM, Ishida-Yamamoto A, Zhou J, Guibbal L, Hu R, Lim YH, Bole-Feysot C, Nitschké P, Santos-Simarro F, de Lucas R, Milstone LM, Gildenstern V, Helfrich YR, Attardi LD, ... Lifton RP, et al. Mutations in PERP cause dominant and recessive keratoderma. The Journal of Investigative Dermatology. PMID 30321533 DOI: 10.1016/J.Jid.2018.08.026 |
0.831 |
|
| 2018 |
Furey CG, Zeng X, Dong W, Jin SC, Choi J, Timberlake AT, Dunbar AM, Allocco AA, Günel M, Lifton RP, Kahle KT. Human genetics and molecular mechanisms of congenital hydrocephalus. World Neurosurgery. PMID 30205212 DOI: 10.1016/J.Wneu.2018.09.018 |
0.523 |
|
| 2018 |
Braun DA, Lovric S, Schapiro D, Schneider R, Marquez J, Asif M, Hussain MS, Daga A, Widmeier E, Rao J, Ashraf S, Tan W, Lusk CP, Kolb A, Jobst-Schwan T, ... ... Lifton RP, et al. Mutations in multiple components of the nuclear pore complex cause nephrotic syndrome. The Journal of Clinical Investigation. PMID 30179222 DOI: 10.1172/Jci98688 |
0.493 |
|
| 2018 |
van der Ven AT, Connaughton DM, Ityel H, Mann N, Nakayama M, Chen J, Vivante A, Hwang DY, Schulz J, Braun DA, Schmidt JM, Schapiro D, Schneider R, Warejko JK, Daga A, ... ... Lifton RP, et al. Whole-Exome Sequencing Identifies Causative Mutations in Families with Congenital Anomalies of the Kidney and Urinary Tract. Journal of the American Society of Nephrology : Jasn. PMID 30143558 DOI: 10.1681/Asn.2017121265 |
0.415 |
|
| 2018 |
Dong W, Nicolson NG, Choi J, Barbieri AL, Kunstman JW, Azar SA, Knight J, Bilguvar K, Mane SM, Lifton RP, Korah R, Carling T. Clonal Evolution Analysis of Paired Anaplastic and Well-Differentiated Thyroid Carcinomas Reveals Shared Common Ancestor. Genes, Chromosomes & Cancer. PMID 30136351 DOI: 10.1002/Gcc.22678 |
0.318 |
|
| 2018 |
Willsey AJ, Morris MT, Wang S, Willsey HR, Sun N, Teerikorpi N, Baum TB, Cagney G, Bender KJ, Desai TA, Srivastava D, Davis GW, Doudna J, Chang E, Sohal V, ... ... Lifton RP, et al. The Psychiatric Cell Map Initiative: A Convergent Systems Biological Approach to Illuminating Key Molecular Pathways in Neuropsychiatric Disorders. Cell. 174: 505-520. PMID 30053424 DOI: 10.1016/J.Cell.2018.06.016 |
0.785 |
|
| 2018 |
Timberlake AT, Wu R, Nelson-Williams C, Furey CG, Hildebrand KI, Elton SW, Wood JS, Persing JA, Lifton RP. Co-occurrence of frameshift mutations in and in a child with complex craniosynostosis. Human Genome Variation. 5: 14. PMID 30038786 DOI: 10.1038/S41439-018-0014-X |
0.479 |
|
| 2018 |
Furey CG, Choi J, Jin SC, Zeng X, Timberlake AT, Nelson-Williams C, Mansuri MS, Lu Q, Duran D, Panchagnula S, Allocco A, Karimy JK, Khanna A, Gaillard JR, DeSpenza T, ... ... Lifton RP, et al. De Novo Mutation in Genes Regulating Neural Stem Cell Fate in Human Congenital Hydrocephalus. Neuron. PMID 29983323 DOI: 10.1016/J.Neuron.2018.06.019 |
0.575 |
|
| 2018 |
Hermle T, Schneider R, Schapiro D, Braun DA, van der Ven AT, Warejko JK, Daga A, Widmeier E, Nakayama M, Jobst-Schwan T, Majmundar AJ, Ashraf S, Rao J, Finn LS, Tasic V, ... ... Lifton RP, et al. and Mutations Implicate RAB5 Regulation in Nephrotic Syndrome. Journal of the American Society of Nephrology : Jasn. PMID 29959197 DOI: 10.1681/Asn.2017121312 |
0.421 |
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| 2018 |
Murillo-de-Ozores AR, Rodriguez-Gama A, Bazua-Valenti S, Leyva-Rios K, Vazquez N, Pacheco-Alvarez D, De-La-Rosa-Velazquez IA, Wengi A, Stone KL, Zhang J, Loffing J, Lifton RP, Yang CL, Ellison D, Gamba G, et al. C-terminally truncated, kidney-specific variants of the WNK4 kinase lack several sites that regulate its activity. The Journal of Biological Chemistry. PMID 29921588 DOI: 10.1074/Jbc.Ra118.003037 |
0.334 |
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| 2018 |
Ashraf S, Kudo H, Rao J, Kikuchi A, Widmeier E, Lawson JA, Tan W, Hermle T, Warejko JK, Shril S, Airik M, Jobst-Schwan T, Lovric S, Braun DA, Gee HY, ... ... Lifton RP, et al. Mutations in six nephrosis genes delineate a pathogenic pathway amenable to treatment. Nature Communications. 9: 1960. PMID 29773874 DOI: 10.1038/S41467-018-04193-W |
0.443 |
|
| 2018 |
Kadara H, Choi M, Zhang J, Parra ER, Rodriguez-Canales J, Gaffney SG, Zhao Z, Behrens C, Fujimoto J, Chow C, Yoo Y, Kalhor N, Moran C, Rimm D, Swisher S, ... ... Lifton RP, et al. Whole-exome sequencing and immune profiling of early-stage lung adenocarcinoma with fully annotated clinical follow-up. Annals of Oncology : Official Journal of the European Society For Medical Oncology. 29: 1072. PMID 29688333 DOI: 10.1093/Annonc/Mdx062 |
0.445 |
|
| 2018 |
Braun DA, Warejko JK, Ashraf S, Tan W, Daga A, Schneider R, Hermle T, Jobst-Schwan T, Widmeier E, Majmundar AJ, Nakayama M, Schapiro D, Rao J, Schmidt JM, Hoogstraten CA, ... ... Lifton RP, et al. Genetic variants in the LAMA5 gene in pediatric nephrotic syndrome. Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association. PMID 29534211 DOI: 10.1093/Ndt/Gfy028 |
0.447 |
|
| 2018 |
Warejko JK, Schueler M, Vivante A, Tan W, Daga A, Lawson JA, Braun DA, Shril S, Amann K, Somers MJG, Rodig NM, Baum MA, Daouk G, Traum AZ, Kim HB, ... ... Lifton RP, et al. Whole Exome Sequencing Reveals a Monogenic Cause of Disease in ≈43% of 35 Families With Midaortic Syndrome. Hypertension (Dallas, Tex. : 1979). PMID 29483232 DOI: 10.1161/Hypertensionaha.117.10296 |
0.447 |
|
| 2018 |
Craiglow BG, Boyden LM, Hu R, Virtanen M, Su J, Rodriguez G, McCarthy C, Luna P, Larralde M, Humphrey S, Holland KE, Hogeling M, Hidalgo-Matlock B, Ferrari B, Fernandez-Faith E, ... ... Lifton RP, et al. A Spectrum Including Features of Psoriasis and Pityriasis Rubra Pilaris. Journal of the American Academy of Dermatology. PMID 29477734 DOI: 10.1016/J.Jaad.2018.02.034 |
0.809 |
|
| 2018 |
Manheimer KB, Richter F, Edelmann LJ, D'Souza SL, Shi L, Shen Y, Homsy J, Boskovski MT, Tai AC, Gorham J, Yasso C, Goldmuntz E, Brueckner M, Lifton RP, Chung WK, et al. Robust identification of mosaic variants in congenital heart disease. Human Genetics. PMID 29417219 DOI: 10.1007/S00439-018-1871-6 |
0.402 |
|
| 2018 |
Scholl UI, Stölting G, Schewe J, Thiel A, Tan H, Nelson-Williams C, Vichot AA, Jin SC, Loring E, Untiet V, Yoo T, Choi J, Xu S, Wu A, Kirchner M, ... ... Lifton RP, et al. CLCN2 chloride channel mutations in familial hyperaldosteronism type II. Nature Genetics. PMID 29403011 DOI: 10.1038/S41588-018-0048-5 |
0.561 |
|
| 2018 |
van der Ven AT, Kobbe B, Kohl S, Shril S, Pogoda HM, Imhof T, Ityel H, Vivante A, Chen J, Hwang DY, Connaughton DM, Mann N, Widmeier E, Taglienti M, Schmidt JM, ... ... Lifton RP, et al. A homozygous missense variant in VWA2, encoding an interactor of the Fraser-complex, in a patient with vesicoureteral reflux. Plos One. 13: e0191224. PMID 29351342 DOI: 10.1371/Journal.Pone.0191224 |
0.481 |
|
| 2018 |
Furey CG, Jin SC, Timberlake AT, Choi J, Zeng X, Nelson-Williams C, Mansuri M, Lu Q, Duran D, Panchagnula S, Alloco A, Karimy JK, Gaillard J, Khanna A, Butler W, ... ... Lifton RP, et al. 125 De Novo Mutations in Genes Regulating Neural Stem Cell Fate in Human Congenital Hydrocephalus Neurosurgery. 65: 88-89. DOI: 10.1093/Neuros/Nyy303.125 |
0.594 |
|
| 2018 |
Boyden L, Vincent N, Zhou J, Hu R, Paller A, Lifton R, Baserga S, Choate K. 799 Exome, genome, and cDNA sequencing reveal KDSR mutations cause two forms of ichthyosis and identify retinoids as pathogenesis-directed therapy Journal of Investigative Dermatology. 138: S136. DOI: 10.1016/J.Jid.2018.03.809 |
0.806 |
|
| 2017 |
Sanna-Cherchi S, Khan K, Westland R, Krithivasan P, Fievet L, Rasouly HM, Ionita-Laza I, Capone VP, Fasel DA, Kiryluk K, Kamalakaran S, Bodria M, Otto EA, Sampson MG, Gillies CE, ... ... Lifton RP, et al. Exome-wide Association Study Identifies GREB1L Mutations in Congenital Kidney Malformations. American Journal of Human Genetics. 101: 1034. PMID 29220675 DOI: 10.1016/j.ajhg.2017.11.003 |
0.351 |
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| 2017 |
Sousa AMM, Zhu Y, Raghanti MA, Kitchen RR, Onorati M, Tebbenkamp ATN, Stutz B, Meyer KA, Li M, Kawasawa YI, Liu F, Perez RG, Mele M, Carvalho T, Skarica M, ... ... Lifton RP, et al. Molecular and cellular reorganization of neural circuits in the human lineage. Science (New York, N.Y.). 358: 1027-1032. PMID 29170230 DOI: 10.1126/Science.Aan3456 |
0.686 |
|
| 2017 |
Warejko JK, Tan W, Daga A, Schapiro D, Lawson JA, Shril S, Lovric S, Ashraf S, Rao J, Hermle T, Jobst-Schwan T, Widmeier E, Majmundar AJ, Schneider R, Gee HY, ... ... Lifton RP, et al. Whole Exome Sequencing of Patients with Steroid-Resistant Nephrotic Syndrome. Clinical Journal of the American Society of Nephrology : Cjasn. PMID 29127259 DOI: 10.2215/Cjn.04120417 |
0.345 |
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| 2017 |
Sanna-Cherchi S, Khan K, Westland R, Krithivasan P, Fievet L, Rasouly HM, Ionita-Laza I, Capone VP, Fasel DA, Kiryluk K, Kamalakaran S, Bodria M, Otto EA, Sampson MG, Gillies CE, ... ... Lifton RP, et al. Exome-wide Association Study Identifies GREB1L Mutations in Congenital Kidney Malformations. American Journal of Human Genetics. 101: 789-802. PMID 29100090 DOI: 10.1016/J.Ajhg.2017.09.018 |
0.451 |
|
| 2017 |
Rao J, Ashraf S, Tan W, van der Ven AT, Gee HY, Braun DA, Fehér K, George SP, Esmaeilniakooshkghazi A, Choi WI, Jobst-Schwan T, Schneider R, Schmidt JM, Widmeier E, Warejko JK, ... ... Lifton RP, et al. Advillin acts upstream of phospholipase C ϵ1 in steroid-resistant nephrotic syndrome. The Journal of Clinical Investigation. PMID 29058690 DOI: 10.1172/Jci94138 |
0.392 |
|
| 2017 |
Jin SC, Homsy J, Zaidi S, Lu Q, Morton S, DePalma SR, Zeng X, Qi H, Chang W, Sierant MC, Hung WC, Haider S, Zhang J, Knight J, Bjornson RD, ... ... Lifton RP, et al. Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands. Nature Genetics. PMID 28991257 DOI: 10.1038/Ng.3970 |
0.679 |
|
| 2017 |
Daga A, Majmundar AJ, Braun DA, Gee HY, Lawson JA, Shril S, Jobst-Schwan T, Vivante A, Schapiro D, Tan W, Warejko JK, Widmeier E, Nelson CP, Fathy HM, Gucev Z, ... ... Lifton RP, et al. Whole exome sequencing frequently detects a monogenic cause in early onset nephrolithiasis and nephrocalcinosis. Kidney International. PMID 28893421 DOI: 10.1016/J.Kint.2017.06.025 |
0.436 |
|
| 2017 |
Besse W, Dong K, Choi J, Punia S, Fedeles SV, Choi M, Gallagher AR, Huang EB, Gulati A, Knight J, Mane S, Tahvanainen E, Tahvanainen P, Sanna-Cherchi S, Lifton RP, et al. Isolated polycystic liver disease genes define effectors of polycystin-1 function. The Journal of Clinical Investigation. 127: 3558. PMID 28862642 DOI: 10.1172/Jci96729 |
0.47 |
|
| 2017 |
Timberlake AT, Furey CG, Choi J, Nelson-Williams C, Loring E, Galm A, Kahle KT, Steinbacher DM, Larysz D, Persing JA, Lifton RP. De novo mutations in inhibitors of Wnt, BMP, and Ras/ERK signaling pathways in non-syndromic midline craniosynostosis. Proceedings of the National Academy of Sciences of the United States of America. PMID 28808027 DOI: 10.1073/Pnas.1709255114 |
0.662 |
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| 2017 |
Braun DA, Rao J, Mollet G, Schapiro D, Daugeron MC, Tan W, Gribouval O, Boyer O, Revy P, Jobst-Schwan T, Schmidt JM, Lawson JA, Schanze D, Ashraf S, Ullmann JFP, ... ... Lifton RP, et al. Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly. Nature Genetics. PMID 28805828 DOI: 10.1038/Ng.3933 |
0.472 |
|
| 2017 |
Vivante A, Ityel H, Pode-Shakked B, Chen J, Shril S, van der Ven AT, Mann N, Schmidt JM, Segel R, Aran A, Zeharia A, Staretz-Chacham O, Bar-Yosef O, Raas-Rothschild A, Landau YE, ... Lifton RP, et al. Exome sequencing in Jewish and Arab patients with rhabdomyolysis reveals single-gene etiology in 43% of cases. Pediatric Nephrology (Berlin, Germany). PMID 28779239 DOI: 10.1007/S00467-017-3755-8 |
0.395 |
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| 2017 |
Scholl UI, Abriola L, Zhang C, Reimer EN, Plummer M, Kazmierczak BI, Zhang J, Hoyer D, Merkel JS, Wang W, Lifton RP. Macrolides selectively inhibit mutant KCNJ5 potassium channels that cause aldosterone-producing adenoma. The Journal of Clinical Investigation. PMID 28604387 DOI: 10.1172/Jci91733 |
0.385 |
|
| 2017 |
Boyden LM, Vincent NG, Zhou J, Hu R, Craiglow BG, Bayliss SJ, Rosman IS, Lucky AW, Diaz LA, Goldsmith LA, Paller AS, Lifton RP, Baserga SJ, Choate KA. Mutations in KDSR Cause Recessive Progressive Symmetric Erythrokeratoderma. American Journal of Human Genetics. 100: 978-984. PMID 28575652 DOI: 10.1016/J.Ajhg.2017.05.003 |
0.828 |
|
| 2017 |
Boyden LM, Craiglow BG, Hu RH, Zhou J, Browning J, Eichenfield L, Lim YL, Luu M, Randolph LM, Ginarte M, Fachal L, Rodriguez-Pazos L, Vega A, Kramer D, Yosipovitch G, ... ... Lifton RP, et al. Phenotypic Spectrum of Autosomal Recessive Congenital Ichthyosis Due to PNPLA1 Mutation. The British Journal of Dermatology. PMID 28403545 DOI: 10.1111/Bjd.15570 |
0.823 |
|
| 2017 |
Vivante A, Mann N, Yonath H, Weiss AC, Getwan M, Kaminski MM, Bohnenpoll T, Teyssier C, Chen J, Shril S, van der Ven AT, Ityel H, Schmidt JM, Widmeier E, Bauer SB, ... ... Lifton RP, et al. A Dominant Mutation in Nuclear Receptor Interacting Protein 1 Causes Urinary Tract Malformations via Dysregulation of Retinoic Acid Signaling. Journal of the American Society of Nephrology : Jasn. PMID 28381549 DOI: 10.1681/Asn.2016060694 |
0.408 |
|
| 2017 |
Besse W, Dong K, Choi J, Punia S, Fedeles SV, Choi M, Gallagher AR, Huang EB, Gulati A, Knight J, Mane S, Tahvanainen E, Tahvanainen P, Sanna-Cherchi S, Lifton RP, et al. Isolated polycystic liver disease genes define effectors of polycystin-1 function. The Journal of Clinical Investigation. PMID 28375157 DOI: 10.1172/Jci90129 |
0.6 |
|
| 2017 |
Kadara H, Choi M, Zhang J, Parra ER, Rodriguez-Canales J, Gaffney SG, Zhao Z, Behrens C, Fujimoto J, Chow C, Yoo Y, Kalhor N, Moran C, Rimm D, Swisher S, ... ... Lifton RP, et al. Whole-exome sequencing and immune profiling of early-stage lung adenocarcinoma with fully annotated clinical follow-up. Annals of Oncology : Official Journal of the European Society For Medical Oncology. PMID 28368511 DOI: 10.1093/annonc/mdx062 |
0.371 |
|
| 2017 |
Choi M, Kadara H, Zhang J, Parra ER, Rodriguez-Canales J, Gaffney SG, Zhao Z, Behrens C, Fujimoto J, Chow C, Kim K, Kalhor N, Moran C, Rimm D, Swisher S, ... ... Lifton RP, et al. Mutation profiles in early-stage lung squamous cell carcinoma with clinical follow-up and correlation with markers of immune function. Annals of Oncology : Official Journal of the European Society For Medical Oncology. 28: 83-89. PMID 28177435 DOI: 10.1093/Annonc/Mdw437 |
0.59 |
|
| 2017 |
Lovric S, Goncalves S, Gee HY, Oskouian B, Srinivas H, Choi WI, Shril S, Ashraf S, Tan W, Rao J, Airik M, Schapiro D, Braun DA, Sadowski CE, Widmeier E, ... ... Lifton RP, et al. Mutations in sphingosine-1-phosphase lyase cause nephrosis with ichthyosis and adrenal insufficiency. The Journal of Clinical Investigation. PMID 28165339 DOI: 10.1172/Jci89626 |
0.503 |
|
| 2017 |
Lopez-Rivera E, Liu YP, Verbitsky M, Anderson BR, Capone VP, Otto EA, Yan Z, Mitrotti A, Martino J, Steers NJ, Fasel DA, Vukojevic K, Deng R, Racedo SE, Liu Q, ... ... Lifton RP, et al. Genetic Drivers of Kidney Defects in the DiGeorge Syndrome. The New England Journal of Medicine. PMID 28121514 DOI: 10.1056/Nejmoa1609009 |
0.391 |
|
| 2017 |
Castañeda-Bueno M, Arroyo JP, Zhang J, Puthumana J, Yarborough O, Shibata S, Rojas-Vega L, Gamba G, Rinehart J, Lifton RP. Phosphorylation by PKC and PKA regulate the kinase activity and downstream signaling of WNK4. Proceedings of the National Academy of Sciences of the United States of America. PMID 28096417 DOI: 10.1073/Pnas.1620315114 |
0.765 |
|
| 2017 |
Furey CG, Choi J, Duran D, Timberlake AT, Zeng X, Nelson-Williams C, Khanna A, Iskandar B, Butler W, Heuer GG, Bayri Y, Sahin Y, Limbrick DD, Warf BC, Duncan CC, ... ... Lifton RP, et al. 102 Exome Sequencing Identifies Novel Molecular Determinants of Human Congenital Hydrocephalus Neurosurgery. 64: 220-220. DOI: 10.1093/Neuros/Nyx417.102 |
0.59 |
|
| 2017 |
Hastings K, Choi J, Wurtz A, Walther Z, Cai G, Oliva I, Zhao Z, Gaffney S, Iamarino A, Zhao S, Bi M, Goldberg S, Chiang A, Liu Z, Townsend J, ... ... Lifton R, et al. MA16.02 Mutational Landscape of TKI Naïve and Resistant EGFR Mutant Lung Adenocarcinomas Journal of Thoracic Oncology. 12: S435. DOI: 10.1016/J.Jtho.2016.11.507 |
0.336 |
|
| 2016 |
Duran D, Jin SC, DeSpenza T, Nelson-Williams C, Cogal AG, Abrash EW, Harris PC, Lieske JC, Shimshak SJ, Mane S, Bilguvar K, DiLuna ML, Günel M, Lifton RP, Kahle KT. Digenic mutations of human OCRL paralogs in Dent's disease type 2 associated with Chiari I malformation. Human Genome Variation. 3: 16042. PMID 28018608 DOI: 10.1038/Hgv.2016.42 |
0.661 |
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| 2016 |
Ishizawa K, Xu N, Loffing J, Lifton RP, Fujita T, Uchida S, Shibata S. Potassium depletion stimulates Na-Cl cotransporter via phosphorylation and inactivation of the ubiquitin ligase Kelch-like 3. Biochemical and Biophysical Research Communications. 480: 745-751. PMID 27942049 DOI: 10.1016/J.Bbrc.2016.10.127 |
0.318 |
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| 2016 |
Zhao S, Bellone S, Lopez S, Thakral D, Schwab C, English DP, Black J, Cocco E, Choi J, Zammataro L, Predolini F, Bonazzoli E, Bi M, Buza N, Hui P, ... ... Lifton RP, et al. Mutational landscape of uterine and ovarian carcinosarcomas implicates histone genes in epithelial-mesenchymal transition. Proceedings of the National Academy of Sciences of the United States of America. 113: 12238-12243. PMID 27791010 DOI: 10.1073/Pnas.1614120113 |
0.588 |
|
| 2016 |
Li N, Subrahmanyan L, Smith E, Yu X, Zaidi S, Choi M, Mane S, Nelson-Williams C, Behjati M, Kazemi M, Hashemi M, Fathzadeh M, Narayanan A, Tian L, Montazeri F, ... ... Lifton RP, et al. Mutations in the Histone Modifier PRDM6 Are Associated with Isolated Nonsyndromic Patent Ductus Arteriosus. American Journal of Human Genetics. 99: 1000. PMID 27716515 DOI: 10.1016/J.Ajhg.2016.09.003 |
0.554 |
|
| 2016 |
Kadara H, Choi M, Zhang J, Cuentas EP, Canales JR, Gaffney SG, Zhao Z, Behrens C, Fujimoto J, Chow C, Yoo Y, Kalhor N, Moran C, Rimm D, Swisher S, ... ... Lifton RP, et al. Whole-exome sequencing and immune profiling of early-stage lung adenocarcinoma with fully annotated clinical follow-up. Annals of Oncology : Official Journal of the European Society For Medical Oncology. PMID 27687306 DOI: 10.1093/Annonc/Mdw436 |
0.462 |
|
| 2016 |
McKean DM, Homsy J, Wakimoto H, Patel N, Gorham J, DePalma SR, Ware JS, Zaidi S, Ma W, Patel N, Lifton RP, Chung WK, Kim R, Shen Y, Brueckner M, et al. Loss of RNA expression and allele-specific expression associated with congenital heart disease. Nature Communications. 7: 12824. PMID 27670201 DOI: 10.1038/Ncomms12824 |
0.336 |
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| 2016 |
Timberlake AT, Choi J, Zaidi S, Lu Q, Nelson-Williams C, Brooks ED, Bilguvar K, Tikhonova I, Mane S, Yang JF, Sawh-Martinez R, Persing S, Zellner EG, Loring E, Chuang C, ... ... Lifton RP, et al. Two locus inheritance of non-syndromic midline craniosynostosis via rare SMAD6 and common BMP2 alleles. Elife. 5. PMID 27606499 DOI: 10.7554/Elife.20125 |
0.474 |
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| 2016 |
Zhao B, Lu Q, Cheng Y, Belcher JM, Siew ED, Leaf DE, Body SC, Fox AA, Waikar SW, Collard CD, Thiessen-Philbrook H, Ikizler TA, Ware LB, Edelstein CL, Garg AX, ... ... Lifton RP, et al. A Genome-Wide Association Study to Identify Single Nucleotide Polymorphisms for Acute Kidney Injury. American Journal of Respiratory and Critical Care Medicine. PMID 27576016 DOI: 10.1164/Rccm.201603-0518Oc |
0.459 |
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| 2016 |
Rubinstein JC, Brown TC, Christison-Lagay ER, Zhang Y, Kunstman JW, Juhlin CC, Nelson-Williams C, Goh G, Quinn CE, Callender GG, Udelsman R, Lifton RP, Korah R, Carling T. Shifting patterns of genomic variation in the somatic evolution of papillary thyroid carcinoma. Bmc Cancer. 16: 646. PMID 27538953 DOI: 10.1186/S12885-016-2665-7 |
0.687 |
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| 2016 |
Santin AD, Bellone S, Buza N, Choi J, Schwartz PE, Schlessinger J, Lifton RP. Regression of chemotherapy-resistant Polymerase epsilon (POLE) ultra-mutated and MSH6 hyper-mutated endometrial tumors with nivolumab. Clinical Cancer Research : An Official Journal of the American Association For Cancer Research. PMID 27486176 DOI: 10.1158/1078-0432.Ccr-16-1031 |
0.349 |
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| 2016 |
Adam R, Spier I, Zhao B, Kloth M, Marquez J, Hinrichsen I, Kirfel J, Tafazzoli A, Horpaopan S, Uhlhaas S, Stienen D, Friedrichs N, Altmüller J, Laner A, Holzapfel S, ... ... Lifton RP, et al. Exome Sequencing Identifies Biallelic MSH3 Germline Mutations as a Recessive Subtype of Colorectal Adenomatous Polyposis. American Journal of Human Genetics. PMID 27476653 DOI: 10.1016/J.Ajhg.2016.06.015 |
0.469 |
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| 2016 |
Madeo M, Stewart M, Sun Y, Sahir N, Wiethoff S, Chandrasekar I, Yarrow A, Rosenfeld JA, Yang Y, Cordeiro D, McCormick EM, Muraresku CC, Jepperson TN, McBeth LJ, Seidahmed MZ, ... ... Lifton R, et al. Loss-of-Function Mutations in FRRS1L Lead to an Epileptic-Dyskinetic Encephalopathy. American Journal of Human Genetics. PMID 27236917 DOI: 10.1016/J.Ajhg.2016.04.008 |
0.343 |
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| 2016 |
Li N, Subrahmanyan L, Smith E, Yu X, Zaidi S, Choi M, Mane S, Nelson-Williams C, Bahjati M, Kazemi M, Hashemi M, Fathzadeh M, Narayanan A, Tian L, Montazeri F, ... ... Lifton RP, et al. Mutations in the Histone Modifier PRDM6 Are Associated with Isolated Nonsyndromic Patent Ductus Arteriosus. American Journal of Human Genetics. PMID 27181681 DOI: 10.1016/J.Ajhg.2016.03.022 |
0.602 |
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| 2016 |
Priest JR, Osoegawa K, Mohammed N, Nanda V, Kundu R, Schultz K, Lammer EJ, Girirajan S, Scheetz T, Waggott D, Haddad F, Reddy S, Bernstein D, Burns T, Steimle JD, ... ... Lifton RP, et al. De Novo and Rare Variants at Multiple Loci Support the Oligogenic Origins of Atrioventricular Septal Heart Defects. Plos Genetics. 12: e1005963. PMID 27058611 DOI: 10.1371/Journal.Pgen.1005963 |
0.43 |
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| 2016 |
Hedberg ML, Goh G, Chiosea SI, Bauman JE, Freilino ML, Zeng Y, Wang L, Diergaarde BB, Gooding WE, Lui VW, Herbst RS, Lifton RP, Grandis JR. Genetic landscape of metastatic and recurrent head and neck squamous cell carcinoma. The Journal of Clinical Investigation. 126: 1606. PMID 27035818 DOI: 10.1172/Jci86862 |
0.689 |
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| 2016 |
Gee HY, Sadowski CE, Aggarwal PK, Porath JD, Yakulov TA, Schueler M, Lovric S, Ashraf S, Braun DA, Halbritter J, Fang H, Airik R, Vega-Warner V, Cho KJ, Chan TA, ... ... Lifton RP, et al. FAT1 mutations cause a glomerulotubular nephropathy. Nature Communications. 7: 10822. PMID 26905694 DOI: 10.1038/Ncomms10822 |
0.391 |
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| 2016 |
Braun DA, Sadowski CE, Kohl S, Lovric S, Astrinidis SA, Pabst WL, Gee HY, Ashraf S, Lawson JA, Shril S, Airik M, Tan W, Schapiro D, Rao J, Choi WI, ... ... Lifton RP, et al. Mutations in nuclear pore genes NUP93, NUP205 and XPO5 cause steroid-resistant nephrotic syndrome. Nature Genetics. PMID 26878725 DOI: 10.1038/Ng.3512 |
0.438 |
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| 2016 |
Vilarinho S, Sari S, Yilmaz G, Stiegler AL, Boggon TJ, Jain D, Akyol G, Dalgic B, Günel M, Lifton RP. Recurrent Recessive Mutation in DGUOK Causes Idiopathic Non-Cirrhotic Portal Hypertension. Hepatology (Baltimore, Md.). PMID 26874653 DOI: 10.1002/Hep.28499 |
0.448 |
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| 2016 |
Bi M, Zhao S, Said JW, Merino MJ, Adeniran AJ, Xie Z, Nawaf CB, Choi J, Belldegrun AS, Pantuck AJ, Kluger HM, Bilgüvar K, Lifton RP, Shuch B. Genomic characterization of sarcomatoid transformation in clear cell renal cell carcinoma. Proceedings of the National Academy of Sciences of the United States of America. PMID 26864202 DOI: 10.1200/Jco.2016.34.2_Suppl.509 |
0.394 |
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| 2016 |
Zhao ZM, Zhao B, Bai Y, Iamarino A, Gaffney SG, Schlessinger J, Lifton RP, Rimm DL, Townsend JP. Early and multiple origins of metastatic lineages within primary tumors. Proceedings of the National Academy of Sciences of the United States of America. PMID 26858460 DOI: 10.1073/Pnas.1525677113 |
0.337 |
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| 2016 |
Spier I, Kerick M, Drichel D, Horpaopan S, Altmüller J, Laner A, Holzapfel S, Peters S, Adam R, Zhao B, Becker T, Lifton RP, Holinski-Feder E, Perner S, Thiele H, et al. Exome sequencing identifies potential novel candidate genes in patients with unexplained colorectal adenomatous polyposis. Familial Cancer. PMID 26780541 DOI: 10.1007/S10689-016-9870-Z |
0.443 |
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| 2016 |
Timberlake AT, Choi J, Zaidi S, Lu Q, Nelson-Williams C, Brooks ED, Bilguvar K, Tikhonova I, Mane S, Yang JF, Sawh-Martinez R, Persing S, Zellner EG, Loring E, Chuang C, ... ... Lifton RP, et al. Author response: Two locus inheritance of non-syndromic midline craniosynostosis via rare SMAD6 and common BMP2 alleles Elife. DOI: 10.7554/Elife.20125.029 |
0.329 |
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| 2016 |
Menderes G, Zhao S, Schwab C, Lopez S, Black J, Bellone S, Silasi D, Ratner E, Azodi M, Litkouhi B, Schwartz PE, Schlessinger J, Lifton RP, Santin A. Mutational landscape of uterine and ovarian carcinosarcomas. Journal of Clinical Oncology. 34: 5589-5589. DOI: 10.1200/Jco.2016.34.15_Suppl.5589 |
0.357 |
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| 2016 |
Kadara H, Choi M, Zhang J, Cuentas EP, Canales JR, Gaffney S, Zhao Z, Behrens C, Fujimoto J, Chow C, Kalhor N, Moran C, Rimm D, Swisher SG, Gibbons DL, ... ... Lifton R, et al. Abstract 89: Whole-exome sequencing and immune profiling of early-stage lung adenocarcinoma Cancer Research. 76: 89-89. DOI: 10.1158/1538-7445.Am2016-89 |
0.539 |
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| 2016 |
Choi M, Kadara H, Zhang J, Cuentas EP, Canales JR, Gaffney SG, Zhao Z, Behrens C, Fujimoto J, Chow C, Kalhor N, Moran C, Rimm D, Swisher S, Gibbons DL, ... ... Lifton R, et al. Abstract 142: Mutation and immune profiles in early-stage lung squamous cell carcinoma Cancer Research. 76: 142-142. DOI: 10.1158/1538-7445.Am2016-142 |
0.583 |
|
| 2016 |
Menderes G, Zhao S, Schwab CL, Lopez S, Black JD, Cocco E, Bellone S, Silasi D, Ratner E, Azodi M, Litkouhi B, Schwartz PE, Schlossinger J, Lifton R, Santin A. Abstract 135: Mutational landscape of uterine and ovarian carcinosarcomas reveals new recurrently-mutated histone core genes as drivers of epithelial-mesenchymal transition Cancer Research. 76: 135-135. DOI: 10.1158/1538-7445.Am2016-135 |
0.437 |
|
| 2016 |
Lu Y, Mirza H, Hu R, Zhou J, Crumrine D, Elias P, Lifton R, Choate K. 351 Epidermal fragility in Keratin 10 ichthyosis with confetti mutation results from loss of keratin 1-desmoplakin interaction Journal of Investigative Dermatology. 136: S62. DOI: 10.1016/J.Jid.2016.02.383 |
0.646 |
|
| 2015 |
Mishra-Gorur K, Çağlayan AO, Schaffer AE, Chabu C, Henegariu O, Vonhoff F, Akgümüş GT, Nishimura S, Han W, Tu S, Baran B, Gümüş H, Dilber C, Zaki MS, Hossni HAA, ... ... Lifton RP, et al. Mutations in KATNB1 Cause Complex Cerebral Malformations by Disrupting Asymmetrically Dividing Neural Progenitors. Neuron. 85: 228. PMID 29654772 DOI: 10.1016/J.Neuron.2014.12.046 |
0.388 |
|
| 2015 |
Homsy J, Zaidi S, Shen Y, Ware JS, Samocha KE, Karczewski KJ, DePalma SR, McKean D, Wakimoto H, Gorham J, Jin SC, Deanfield J, Giardini A, Porter GA, Kim R, ... ... Lifton RP, et al. De novo mutations in congenital heart disease with neurodevelopmental and other congenital anomalies. Science (New York, N.Y.). 350: 1262-6. PMID 26785492 DOI: 10.1126/Science.Aac9396 |
0.669 |
|
| 2015 |
Walker S, Wang C, Walradt T, Hong BS, Tanner JR, Levinsohn JL, Goh G, Subtil A, Lessin SR, Heymann WR, Vonderheid EC, King BA, Lifton RP, Choi J. Identification of a gain-of-function STAT3 mutation (p.Y640F) in lymphocytic variant hypereosinophilic syndrome. Blood. PMID 26702067 DOI: 10.1016/J.Jid.2016.02.051 |
0.746 |
|
| 2015 |
Goh G, Walradt T, Markarov V, Blom A, Riaz N, Doumani R, Stafstrom K, Moshiri A, Yelistratova L, Levinsohn J, Chan TA, Nghiem P, Lifton RP, Choi J. Mutational landscape of MCPyV-positive and MCPyV-negative merkel cell carcinomas with implications for immunotherapy. Oncotarget. PMID 26655088 DOI: 10.18632/Oncotarget.6494 |
0.747 |
|
| 2015 |
Hedberg ML, Goh G, Chiosea SI, Bauman JE, Freilino ML, Zeng Y, Wang L, Diergaarde BB, Gooding WE, Lui VW, Herbst RS, Lifton RP, Grandis JR. Genetic landscape of metastatic and recurrent head and neck squamous cell carcinoma. The Journal of Clinical Investigation. PMID 26619122 DOI: 10.1172/Jci82066 |
0.658 |
|
| 2015 |
Spier I, Drichel D, Kerick M, Kirfel J, Horpaopan S, Laner A, Holzapfel S, Peters S, Adam R, Zhao B, Becker T, Lifton RP, Perner S, Hoffmann P, Kristiansen G, et al. Low-level APC mutational mosaicism is the underlying cause in a substantial fraction of unexplained colorectal adenomatous polyposis cases. Journal of Medical Genetics. PMID 26613750 DOI: 10.1136/Jmedgenet-2015-103468 |
0.47 |
|
| 2015 |
Boyden LM, Kam CY, Hernández-Martín A, Zhou J, Craiglow BG, Sidbury R, Mathes EF, Maguiness SM, Crumrine DA, Williams ML, Hu R, Lifton RP, Elias PM, Green KJ, Choate KA. Dominant de novo DSP mutations cause erythrokeratodermia-cardiomyopathy syndrome. Human Molecular Genetics. PMID 26604139 DOI: 10.1093/Hmg/Ddv481 |
0.826 |
|
| 2015 |
Ment LR, Ådén U, Bauer CR, Bada HS, Carlo WA, Kaiser JR, Lin A, Cotten CM, Murray J, Page G, Hallman M, Lifton RP, Zhang H. Genes and environment in neonatal intraventricular hemorrhage. Seminars in Perinatology. PMID 26516117 DOI: 10.1053/J.Semperi.2015.09.006 |
0.307 |
|
| 2015 |
Braun DA, Schueler M, Halbritter J, Gee HY, Porath JD, Lawson JA, Airik R, Shril S, Allen SJ, Stein D, Al Kindy A, Beck BB, Cengiz N, Moorani KN, Ozaltin F, ... ... Lifton RP, et al. Whole exome sequencing identifies causative mutations in the majority of consanguineous or familial cases with childhood-onset increased renal echogenicity. Kidney International. PMID 26489029 DOI: 10.1038/Ki.2015.317 |
0.439 |
|
| 2015 |
Stenman A, Juhlin CC, Haglund F, Brown TC, Clark VE, Svahn F, Bilguvar K, Goh G, Korah R, Lifton RP, Carling T. Absence of KMT2D/MLL2 mutations in abdominal paraganglioma. Clinical Endocrinology. PMID 26303934 DOI: 10.1111/Cen.12884 |
0.747 |
|
| 2015 |
Perrault I, Halbritter J, Porath JD, Gérard X, Braun DA, Gee HY, Fathy HM, Saunier S, Cormier-Daire V, Thomas S, Attié-Bitach T, Boddaert N, Taschner M, Schueler M, Lorentzen E, ... Lifton RP, et al. IFT81, encoding an IFT-B core protein, as a very rare cause of a ciliopathy phenotype. Journal of Medical Genetics. 52: 657-65. PMID 26275418 DOI: 10.1136/Jmedgenet-2014-102838 |
0.338 |
|
| 2015 |
Scholl UI, Healy JM, Thiel A, Fonseca AL, Brown TC, Kunstman JW, Horne MJ, Dietrich D, Riemer J, Kücükköylü S, Reimer EN, Reis AC, Goh G, Kristiansen G, Mahajan A, ... ... Lifton RP, et al. Novel somatic mutations in primary hyperaldosteronism are related to the clinical, radiological and pathological phenotype. Clinical Endocrinology. PMID 26252618 DOI: 10.1111/Cen.12873 |
0.756 |
|
| 2015 |
Vivante A, Kleppa MJ, Schulz J, Kohl S, Sharma A, Chen J, Shril S, Hwang DY, Weiss AC, Kaminski MM, Shukrun R, Kemper MJ, Lehnhardt A, Beetz R, Sanna-Cherchi S, ... ... Lifton RP, et al. Mutations in TBX18 Cause Dominant Urinary Tract Malformations via Transcriptional Dysregulation of Ureter Development. American Journal of Human Genetics. PMID 26235987 DOI: 10.1016/J.Ajhg.2015.07.001 |
0.454 |
|
| 2015 |
Krauthammer M, Kong Y, Bacchiocchi A, Evans P, Pornputtapong N, Wu C, McCusker JP, Ma S, Cheng E, Straub R, Serin M, Bosenberg M, Ariyan S, Narayan D, Sznol M, ... ... Lifton RP, et al. Exome sequencing identifies recurrent mutations in NF1 and RASopathy genes in sun-exposed melanomas. Nature Genetics. PMID 26214590 DOI: 10.1038/Ng.3361 |
0.425 |
|
| 2015 |
Choi J, Goh G, Walradt T, Hong BS, Bunick CG, Chen K, Bjornson RD, Maman Y, Wang T, Tordoff J, Carlson K, Overton JD, Liu KJ, Lewis JM, Devine L, ... ... Lifton RP, et al. Genomic landscape of cutaneous T cell lymphoma. Nature Genetics. PMID 26192916 DOI: 10.1038/Ng.3356 |
0.712 |
|
| 2015 |
Chong JX, Buckingham KJ, Jhangiani SN, Boehm C, Sobreira N, Smith JD, Harrell TM, McMillin MJ, Wiszniewski W, Gambin T, Coban Akdemir ZH, Doheny K, Scott AF, Avramopoulos D, Chakravarti A, ... ... Lifton RP, et al. The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities. American Journal of Human Genetics. 97: 199-215. PMID 26166479 DOI: 10.1016/J.Ajhg.2015.06.009 |
0.409 |
|
| 2015 |
Santin AD, Bellone S, Centritto F, Schlessinger J, Lifton R. Improved survival of patients with hypermutation in uterine serous carcinoma. Gynecologic Oncology Reports. 12: 3-4. PMID 26076146 DOI: 10.1016/J.Gore.2015.01.005 |
0.381 |
|
| 2015 |
Juhlin CC, Stenman A, Haglund F, Clark VE, Brown TC, Baranoski J, Bilguvar K, Goh G, Welander J, Svahn F, Rubinstein JC, Caramuta S, Yasuno K, Günel M, Bäckdahl M, ... ... Lifton RP, et al. Whole-exome sequencing defines the mutational landscape of pheochromocytoma and identifies KMT2D as a recurrently mutated gene. Genes, Chromosomes & Cancer. 54: 542-54. PMID 26032282 DOI: 10.1002/Gcc.22267 |
0.772 |
|
| 2015 |
Hwang DY, Kohl S, Fan X, Vivante A, Chan S, Dworschak GC, Schulz J, van Eerde AM, Hilger AC, Gee HY, Pennimpede T, Herrmann BG, van de Hoek G, Renkema KY, Schell C, ... ... Lifton RP, et al. Mutations of the SLIT2-ROBO2 pathway genes SLIT2 and SRGAP1 confer risk for congenital anomalies of the kidney and urinary tract. Human Genetics. 134: 905-16. PMID 26026792 DOI: 10.1007/S00439-015-1570-5 |
0.492 |
|
| 2015 |
Gee HY, Zhang F, Ashraf S, Kohl S, Sadowski CE, Vega-Warner V, Zhou W, Lovric S, Fang H, Nettleton M, Zhu JY, Hoefele J, Weber LT, Podracka L, Boor A, ... ... Lifton RP, et al. KANK deficiency leads to podocyte dysfunction and nephrotic syndrome. The Journal of Clinical Investigation. 125: 2375-84. PMID 25961457 DOI: 10.1172/Jci79504 |
0.337 |
|
| 2015 |
Scholl UI, Stölting G, Nelson-Williams C, Vichot AA, Choi M, Loring E, Prasad ML, Goh G, Carling T, Juhlin CC, Quack I, Rump LC, Thiel A, Lande M, Frazier BG, ... ... Lifton RP, et al. Recurrent gain of function mutation in calcium channel CACNA1H causes early-onset hypertension with primary aldosteronism. Elife. 4: e06315. PMID 25907736 DOI: 10.7554/Elife.06315 |
0.791 |
|
| 2015 |
Mele C, Lemaire M, Iatropoulos P, Piras R, Bresin E, Bettoni S, Bick D, Helbling D, Veith R, Valoti E, Donadelli R, Murer L, Neunhäuserer M, Breno M, Frémeaux-Bacchi V, ... Lifton R, et al. Characterization of a New DGKE Intronic Mutation in Genetically Unsolved Cases of Familial Atypical Hemolytic Uremic Syndrome. Clinical Journal of the American Society of Nephrology : Cjasn. 10: 1011-9. PMID 25854283 DOI: 10.2215/Cjn.08520814 |
0.749 |
|
| 2015 |
Stuart BD, Choi J, Zaidi S, Xing C, Holohan B, Chen R, Choi M, Dharwadkar P, Torres F, Girod CE, Weissler J, Fitzgerald J, Kershaw C, Klesney-Tait J, Mageto Y, ... ... Lifton RP, et al. Exome sequencing links mutations in PARN and RTEL1 with familial pulmonary fibrosis and telomere shortening. Nature Genetics. 47: 512-7. PMID 25848748 DOI: 10.1038/Ng.3278 |
0.573 |
|
| 2015 |
Lin DH, Yue P, Yarborough O, Scholl UI, Giebisch G, Lifton RP, Rinehart J, Wang WH. Src-family protein tyrosine kinase phosphorylates WNK4 and modulates its inhibitory effect on KCNJ1 (ROMK). Proceedings of the National Academy of Sciences of the United States of America. 112: 4495-500. PMID 25805816 DOI: 10.1073/Pnas.1503437112 |
0.785 |
|
| 2015 |
Cromer MK, Choi M, Nelson-Williams C, Fonseca AL, Kunstman JW, Korah RM, Overton JD, Mane S, Kenney B, Malchoff CD, Stalberg P, Akerström G, Westin G, Hellman P, Carling T, ... ... Lifton RP, et al. Neomorphic effects of recurrent somatic mutations in Yin Yang 1 in insulin-producing adenomas. Proceedings of the National Academy of Sciences of the United States of America. 112: 4062-7. PMID 25787250 DOI: 10.1073/Pnas.1503696112 |
0.562 |
|
| 2015 |
Choate KA, Lu Y, Zhou J, Elias PM, Zaidi S, Paller AS, Farhi A, Nelson-Williams C, Crumrine D, Milstone LM, Lifton RP. Frequent somatic reversion of KRT1 mutations in ichthyosis with confetti. The Journal of Clinical Investigation. 125: 1703-7. PMID 25774499 DOI: 10.1172/Jci64415 |
0.68 |
|
| 2015 |
Walker WE, Kurscheid S, Joshi S, Lopez CA, Goh G, Choi M, Barakat L, Francis J, Fisher A, Kozal M, Zapata H, Shaw A, Lifton R, Sutton RE, Fikrig E. Increased Levels of Macrophage Inflammatory Proteins Result in Resistance to R5-Tropic HIV-1 in a Subset of Elite Controllers. Journal of Virology. 89: 5502-14. PMID 25740989 DOI: 10.1128/Jvi.00118-15 |
0.705 |
|
| 2015 |
Locke AE, Kahali B, Berndt SI, Justice AE, Pers TH, Day FR, Powell C, Vedantam S, Buchkovich ML, Yang J, Croteau-Chonka DC, Esko T, Fall T, Ferreira T, Gustafsson S, ... ... Lifton RP, et al. Genetic studies of body mass index yield new insights for obesity biology. Nature. 518: 197-206. PMID 25673413 DOI: 10.1038/Nature14177 |
0.461 |
|
| 2015 |
Shungin D, Winkler TW, Croteau-Chonka DC, Ferreira T, Locke AE, Mägi R, Strawbridge RJ, Pers TH, Fischer K, Justice AE, Workalemahu T, Wu JM, Buchkovich ML, Heard-Costa NL, Roman TS, ... ... Lifton RP, et al. New genetic loci link adipose and insulin biology to body fat distribution. Nature. 518: 187-96. PMID 25673412 DOI: 10.1038/Nature14132 |
0.475 |
|
| 2015 |
Kunstman JW, Juhlin CC, Goh G, Brown TC, Stenman A, Healy JM, Rubinstein JC, Choi M, Kiss N, Nelson-Williams C, Mane S, Rimm DL, Prasad ML, Höög A, Zedenius J, ... ... Lifton RP, et al. Characterization of the mutational landscape of anaplastic thyroid cancer via whole-exome sequencing. Human Molecular Genetics. 24: 2318-29. PMID 25576899 DOI: 10.1093/Hmg/Ddu749 |
0.79 |
|
| 2015 |
Schueler M, Braun DA, Chandrasekar G, Gee HY, Klasson TD, Halbritter J, Bieder A, Porath JD, Airik R, Zhou W, LoTurco JJ, Che A, Otto EA, Böckenhauer D, Sebire NJ, ... ... Lifton RP, et al. DCDC2 mutations cause a renal-hepatic ciliopathy by disrupting Wnt signaling. American Journal of Human Genetics. 96: 81-92. PMID 25557784 DOI: 10.1016/J.Ajhg.2014.12.002 |
0.405 |
|
| 2015 |
Spier I, Holzapfel S, Altmüller J, Zhao B, Horpaopan S, Vogt S, Chen S, Morak M, Raeder S, Kayser K, Stienen D, Adam R, Nürnberg P, Plotz G, Holinski-Feder E, ... Lifton RP, et al. Frequency and phenotypic spectrum of germline mutations in POLE and seven other polymerase genes in 266 patients with colorectal adenomas and carcinomas. International Journal of Cancer. Journal International Du Cancer. 137: 320-31. PMID 25529843 DOI: 10.1002/Ijc.29396 |
0.445 |
|
| 2015 |
Juhlin CC, Goh G, Healy JM, Fonseca AL, Scholl UI, Stenman A, Kunstman JW, Brown TC, Overton JD, Mane SM, Nelson-Williams C, Bäckdahl M, Suttorp AC, Haase M, Choi M, ... ... Lifton RP, et al. Whole-exome sequencing characterizes the landscape of somatic mutations and copy number alterations in adrenocortical carcinoma. The Journal of Clinical Endocrinology and Metabolism. 100: E493-502. PMID 25490274 DOI: 10.1210/Jc.2014-3282 |
0.766 |
|
| 2015 |
Boyden LM, Craiglow BG, Zhou J, Hu R, Loring EC, Morel KD, Lauren CT, Lifton RP, Bilguvar K, Paller AS, Choate KA. Dominant De Novo Mutations in GJA1 Cause Erythrokeratodermia Variabilis et Progressiva, without Features of Oculodentodigital Dysplasia. The Journal of Investigative Dermatology. 135: 1540-7. PMID 25398053 DOI: 10.1038/Jid.2014.485 |
0.825 |
|
| 2015 |
Sadowski CE, Lovric S, Ashraf S, Pabst WL, Gee HY, Kohl S, Engelmann S, Vega-Warner V, Fang H, Halbritter J, Somers MJ, Tan W, Shril S, Fessi I, Lifton RP, et al. A single-gene cause in 29.5% of cases of steroid-resistant nephrotic syndrome. Journal of the American Society of Nephrology : Jasn. 26: 1279-89. PMID 25349199 DOI: 10.1681/Asn.2014050489 |
0.416 |
|
| 2015 |
Scholl UI, Stölting G, Nelson-Williams C, Vichot AA, Choi M, Loring E, Prasad ML, Goh G, Carling T, Juhlin CC, Quack I, Rump LC, Thiel A, Lande M, Frazier BG, ... ... Lifton RP, et al. Author response: Recurrent gain of function mutation in calcium channel CACNA1H causes early-onset hypertension with primary aldosteronism Elife. DOI: 10.7554/Elife.06315.019 |
0.753 |
|
| 2015 |
Perrault I, Halbritter J, Porath J, Gerard X, Braun D, Gee H, Fathy H, Saunier S, Cormier-Daire V, Thomas S, Attié-Bitach T, Boddaert N, Taschner M, Schueler M, Lorentzen E, ... Lifton R, et al. Mutations of IFT81, encoding an IFT-B core protein, as a rare cause of a ciliopathy Cilia. 4. DOI: 10.1186/2046-2530-4-S1-P7 |
0.424 |
|
| 2015 |
Jiang T, Shi W, Symmans WF, Li C, Platt J, Lau R, Wali VB, Lifton R, Pusztai L, Hatzis C. Abstract PD3-2: Broad exonic DNA diversity is associated with resistance to taxane-FAC chemotherapy in triple negative breast cancer Cancer Research. 75. DOI: 10.1158/1538-7445.Sabcs14-Pd3-2 |
0.421 |
|
| 2015 |
Homsy J, Zaidi S, Shen Y, Ware JS, Samocha KE, Karczewski KJ, DePalma SR, McKean D, Wakimoto H, Gorham J, Jin SC, Deanfield J, Giardini A, Porter GA, Kim R, ... ... Lifton RP, et al. De novo mutations in congenital heart disease with neurodevelopmental and other congenital anomalies Science. 350: 1262-1266. DOI: 10.1126/science.aac9396 |
0.633 |
|
| 2015 |
Krauthammer M, Kong Y, Bacchiocchi A, Evans P, Pornputtapong N, Wu C, McCusker JP, Ma S, Cheng E, Straub R, Serin M, Bosenberg M, Ariyan S, Narayan D, Sznol M, ... ... Lifton RP, et al. Exome sequencing identifies recurrent mutations in NF1 and RASopathy genes in sun-exposed melanomas Nature Genetics. DOI: 10.1038/ng.3361 |
0.3 |
|
| 2014 |
Mishra-Gorur K, Ça?layan AO, Schaffer AE, Chabu C, Henegariu O, Vonhoff F, Akgümü? GT, Nishimura S, Han W, Tu S, Baran B, Gümü? H, Dilber C, Zaki MS, Hossni HA, ... ... Lifton RP, et al. Mutations in KATNB1 cause complex cerebral malformations by disrupting asymmetrically dividing neural progenitors. Neuron. 84: 1226-39. PMID 25521378 DOI: 10.1016/J.Neuron.2014.12.014 |
0.423 |
|
| 2014 |
Griesi-Oliveira K, Acab A, Gupta AR, Sunaga DY, Chailangkarn T, Nicol X, Nunez Y, Walker MF, Murdoch JD, Sanders SJ, Fernandez TV, Ji W, Lifton RP, Vadasz E, Dietrich A, et al. Modeling non-syndromic autism and the impact of TRPC6 disruption in human neurons. Molecular Psychiatry. PMID 25385366 DOI: 10.1038/Mp.2014.141 |
0.81 |
|
| 2014 |
Shibata S, Arroyo JP, Castañeda-Bueno M, Puthumana J, Zhang J, Uchida S, Stone KL, Lam TT, Lifton RP. Angiotensin II signaling via protein kinase C phosphorylates Kelch-like 3, preventing WNK4 degradation. Proceedings of the National Academy of Sciences of the United States of America. 111: 15556-61. PMID 25313067 DOI: 10.1073/Pnas.1418342111 |
0.378 |
|
| 2014 |
Kiryluk K, Li Y, Scolari F, Sanna-Cherchi S, Choi M, Verbitsky M, Fasel D, Lata S, Prakash S, Shapiro S, Fischman C, Snyder HJ, Appel G, Izzi C, Viola BF, ... ... Lifton RP, et al. Discovery of new risk loci for IgA nephropathy implicates genes involved in immunity against intestinal pathogens. Nature Genetics. 46: 1187-96. PMID 25305756 DOI: 10.1038/Ng.3118 |
0.509 |
|
| 2014 |
Romberg N, Al Moussawi K, Nelson-Williams C, Stiegler AL, Loring E, Choi M, Overton J, Meffre E, Khokha MK, Huttner AJ, West B, Podoltsev NA, Boggon TJ, Kazmierczak BI, Lifton RP. Mutation of NLRC4 causes a syndrome of enterocolitis and autoinflammation. Nature Genetics. 46: 1135-9. PMID 25217960 DOI: 10.1038/Ng.3066 |
0.571 |
|
| 2014 |
Glessner JT, Bick AG, Ito K, Homsy JG, Rodriguez-Murillo L, Fromer M, Mazaika E, Vardarajan B, Italia M, Leipzig J, DePalma SR, Golhar R, Sanders SJ, Yamrom B, Ronemus M, ... ... Lifton R, et al. Increased frequency of de novo copy number variants in congenital heart disease by integrative analysis of single nucleotide polymorphism array and exome sequence data. Circulation Research. 115: 884-96. PMID 25205790 DOI: 10.1161/Circresaha.115.304458 |
0.779 |
|
| 2014 |
Zhang C, Wang L, Zhang J, Su XT, Lin DH, Scholl UI, Giebisch G, Lifton RP, Wang WH. KCNJ10 determines the expression of the apical Na-Cl cotransporter (NCC) in the early distal convoluted tubule (DCT1). Proceedings of the National Academy of Sciences of the United States of America. 111: 11864-9. PMID 25071208 DOI: 10.1073/Pnas.1411705111 |
0.339 |
|
| 2014 |
Vilarinho S, Choi M, Jain D, Malhotra A, Kulkarni S, Pashankar D, Phatak U, Patel M, Bale A, Mane S, Lifton RP, Mistry PK. Individual exome analysis in diagnosis and management of paediatric liver failure of indeterminate aetiology. Journal of Hepatology. 61: 1056-63. PMID 25016221 DOI: 10.1016/J.Jhep.2014.06.038 |
0.455 |
|
| 2014 |
Gupta AR, Pirruccello M, Cheng F, Kang HJ, Fernandez TV, Baskin JM, Choi M, Liu L, Ercan-Sencicek AG, Murdoch JD, Klei L, Neale BM, Franjic D, Daly MJ, Lifton RP, et al. Rare deleterious mutations of the gene EFR3A in autism spectrum disorders. Molecular Autism. 5: 31. PMID 24860643 DOI: 10.1186/2040-2392-5-31 |
0.818 |
|
| 2014 |
Keramati AR, Fathzadeh M, Go GW, Singh R, Choi M, Faramarzi S, Mane S, Kasaei M, Sarajzadeh-Fard K, Hwa J, Kidd KK, Babaee Bigi MA, Malekzadeh R, Hosseinian A, Babaei M, ... Lifton RP, et al. A form of the metabolic syndrome associated with mutations in DYRK1B. The New England Journal of Medicine. 370: 1909-19. PMID 24827035 DOI: 10.1056/Nejmoa1301824 |
0.574 |
|
| 2014 |
Goh G, Scholl UI, Healy JM, Choi M, Prasad ML, Nelson-Williams C, Kunstman JW, Kuntsman JW, Korah R, Suttorp AC, Dietrich D, Haase M, Willenberg HS, Stålberg P, Hellman P, ... ... Lifton RP, et al. Recurrent activating mutation in PRKACA in cortisol-producing adrenal tumors. Nature Genetics. 46: 613-7. PMID 24747643 DOI: 10.1038/Ng.2956 |
0.779 |
|
| 2014 |
Westland R, Bodria M, Carrea A, Lata S, Scolari F, Fremeaux-Bacchi V, D'Agati VD, Lifton RP, Gharavi AG, Ghiggeri GM, Sanna-Cherchi S. Phenotypic expansion of DGKE-associated diseases. Journal of the American Society of Nephrology : Jasn. 25: 1408-14. PMID 24511134 DOI: 10.1681/Asn.2013080886 |
0.464 |
|
| 2014 |
Zhao S, Choi M, Heuck C, Mane S, Barlogie B, Lifton RP, Dhodapkar MV. Serial exome analysis of disease progression in premalignant gammopathies. Leukemia. 28: 1548-52. PMID 24496302 DOI: 10.1038/Leu.2014.59 |
0.597 |
|
| 2014 |
Ment LR, Adén U, Lin A, Kwon SH, Choi M, Hallman M, Lifton RP, Zhang H, Bauer CR. Gene-environment interactions in severe intraventricular hemorrhage of preterm neonates. Pediatric Research. 75: 241-50. PMID 24192699 DOI: 10.1038/Pr.2013.195 |
0.522 |
|
| 2014 |
Levinsohn JL, Teng J, Craiglow BG, Loring EC, Burrow TA, Mane SS, Overton JD, Lifton RP, McNiff JM, Lucky AW, Choate KA. Somatic HRAS p.G12S mutation causes woolly hair and epidermal nevi. The Journal of Investigative Dermatology. 134: 1149-52. PMID 24129065 DOI: 10.1038/Jid.2013.430 |
0.665 |
|
| 2014 |
Lim YH, Ovejero D, Sugarman JS, Deklotz CM, Maruri A, Eichenfield LF, Kelley PK, Jüppner H, Gottschalk M, Tifft CJ, Gafni RI, Boyce AM, Cowen EW, Bhattacharyya N, Guthrie LC, ... ... Lifton RP, et al. Multilineage somatic activating mutations in HRAS and NRAS cause mosaic cutaneous and skeletal lesions, elevated FGF23 and hypophosphatemia. Human Molecular Genetics. 23: 397-407. PMID 24006476 DOI: 10.1093/Hmg/Ddt429 |
0.633 |
|
| 2014 |
Hedberg ML, Goh G, Freilino M, Zeng Y, Lui VW, Herbst RS, Lifton RP, Grandis JR. Abstract 985: The mutational landscape of LN metastasis and recurrence in HNSCC Cancer Research. 74: 985-985. DOI: 10.1158/1538-7445.Am2014-985 |
0.727 |
|
| 2014 |
Goh G, Scholl UI, Healy JM, Choi M, Prasad ML, Nelson-Williams C, Kuntsman JW, Korah R, Suttorp A, Dietrich D, Haase M, Willenberg HS, Stålberg P, Hellman P, Åkerström G, ... ... Lifton RP, et al. Corrigendum: Recurrent activating mutation in PRKACA in cortisol-producing adrenal tumors Nature Genetics. 46: 759-759. DOI: 10.1038/Ng0714-759B |
0.756 |
|
| 2014 |
Vilarinho S, Overton J, Carvajal D, Rimm DL, Lifton RP. Su1894 Exome Sequencing of Formalin Fixed Paraffin Embedded Pancreatic Ductal Adenocarcinoma Samples Expands Mutational Landscape and Identifies Hypermutator Phenotype Gastroenterology. 146: S-495. DOI: 10.1016/S0016-5085(14)61783-2 |
0.407 |
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| 2013 |
Ashraf S, Gee HY, Woerner S, Xie LX, Vega-Warner V, Lovric S, Fang H, Song X, Cattran DC, Avila-Casado C, Paterson AD, Nitschké P, Bole-Feysot C, Cochat P, Esteve-Rudd J, ... ... Lifton RP, et al. ADCK4 mutations promote steroid-resistant nephrotic syndrome through CoQ10 biosynthesis disruption. The Journal of Clinical Investigation. 123: 5179-89. PMID 24270420 DOI: 10.1172/Jci69000 |
0.636 |
|
| 2013 |
Scholl UI, Goh G, Stölting G, de Oliveira RC, Choi M, Overton JD, Fonseca AL, Korah R, Starker LF, Kunstman JW, Prasad ML, Hartung EA, Mauras N, Benson MR, Brady T, ... ... Lifton RP, et al. Somatic and germline CACNA1D calcium channel mutations in aldosterone-producing adenomas and primary aldosteronism. Nature Genetics. 45: 1050-4. PMID 23913001 DOI: 10.1038/Ng.2695 |
0.77 |
|
| 2013 |
Adén U, Lin A, Carlo W, Leviton A, Murray JC, Hallman M, Lifton RP, Zhang H, Ment LR. Candidate gene analysis: severe intraventricular hemorrhage in inborn preterm neonates. The Journal of Pediatrics. 163: 1503-6.e1. PMID 23896193 DOI: 10.1016/J.Jpeds.2013.06.025 |
0.32 |
|
| 2013 |
Sanna-Cherchi S, Sampogna RV, Papeta N, Burgess KE, Nees SN, Perry BJ, Choi M, Bodria M, Liu Y, Weng PL, Lozanovski VJ, Verbitsky M, Lugani F, Sterken R, Paragas N, ... ... Lifton RP, et al. Mutations in DSTYK and dominant urinary tract malformations. The New England Journal of Medicine. 369: 621-9. PMID 23862974 DOI: 10.1056/NEJMoa1214479 |
0.757 |
|
| 2013 |
Zaidi S, Choi M, Wakimoto H, Ma L, Jiang J, Overton JD, Romano-Adesman A, Bjornson RD, Breitbart RE, Brown KK, Carriero NJ, Cheung YH, Deanfield J, DePalma S, Fakhro KA, ... ... Lifton RP, et al. De novo mutations in histone-modifying genes in congenital heart disease. Nature. 498: 220-3. PMID 23665959 DOI: 10.1038/Nature12141 |
0.826 |
|
| 2013 |
Zhang W, Hui KY, Gusev A, Warner N, Ng SM, Ferguson J, Choi M, Burberry A, Abraham C, Mayer L, Desnick RJ, Cardinale CJ, Hakonarson H, Waterman M, Chowers Y, ... ... Lifton RP, et al. Extended haplotype association study in Crohn's disease identifies a novel, Ashkenazi Jewish-specific missense mutation in the NF-κB pathway gene, HEATR3. Genes and Immunity. 14: 310-6. PMID 23615072 DOI: 10.1038/Gene.2013.19 |
0.52 |
|
| 2013 |
Shibata S, Zhang J, Puthumana J, Stone KL, Lifton RP. Kelch-like 3 and Cullin 3 regulate electrolyte homeostasis via ubiquitination and degradation of WNK4. Proceedings of the National Academy of Sciences of the United States of America. 110: 7838-43. PMID 23576762 DOI: 10.1073/Pnas.1304592110 |
0.46 |
|
| 2013 |
Lemaire M, Frémeaux-Bacchi V, Schaefer F, Choi M, Tang WH, Le Quintrec M, Fakhouri F, Taque S, Nobili F, Martinez F, Ji W, Overton JD, Mane SM, Nürnberg G, Altmüller J, ... ... Lifton RP, et al. Recessive mutations in DGKE cause atypical hemolytic-uremic syndrome. Nature Genetics. 45: 531-6. PMID 23542698 DOI: 10.1038/Ng.2590 |
0.786 |
|
| 2013 |
Wells EK, Yarborough O, Lifton RP, Cantley LG, Caplan MJ. Epithelial morphogenesis of MDCK cells in three-dimensional collagen culture is modulated by interleukin-8. American Journal of Physiology. Cell Physiology. 304: C966-75. PMID 23485708 DOI: 10.1152/Ajpcell.00261.2012 |
0.765 |
|
| 2013 |
Zhao S, Choi M, Overton JD, Bellone S, Roque DM, Cocco E, Guzzo F, English DP, Varughese J, Gasparrini S, Bortolomai I, Buza N, Hui P, Abu-Khalaf M, Ravaggi A, ... ... Lifton RP, et al. Landscape of somatic single-nucleotide and copy-number mutations in uterine serous carcinoma. Proceedings of the National Academy of Sciences of the United States of America. 110: 2916-21. PMID 23359684 DOI: 10.1073/Pnas.1222577110 |
0.606 |
|
| 2013 |
Bilguvar K, Tyagi NK, Ozkara C, Tuysuz B, Bakircioglu M, Choi M, Delil S, Caglayan AO, Baranoski JF, Erturk O, Yalcinkaya C, Karacorlu M, Dincer A, Johnson MH, Mane S, ... ... Lifton RP, et al. Recessive loss of function of the neuronal ubiquitin hydrolase UCHL1 leads to early-onset progressive neurodegeneration. Proceedings of the National Academy of Sciences of the United States of America. 110: 3489-94. PMID 23359680 DOI: 10.1073/Pnas.1222732110 |
0.549 |
|
| 2013 |
Clark VE, Erson-Omay EZ, Serin A, Yin J, Cotney J, Ozduman K, Avşar T, Li J, Murray PB, Henegariu O, Yilmaz S, Günel JM, Carrión-Grant G, Yilmaz B, Grady C, ... ... Lifton RP, et al. Genomic analysis of non-NF2 meningiomas reveals mutations in TRAF7, KLF4, AKT1, and SMO. Science (New York, N.Y.). 339: 1077-80. PMID 23348505 DOI: 10.1126/science.1233009 |
0.775 |
|
| 2013 |
Scholl UI, Lifton RP. New insights into aldosterone-producing adenomas and hereditary aldosteronism: mutations in the K+ channel KCNJ5. Current Opinion in Nephrology and Hypertension. 22: 141-7. PMID 23318698 DOI: 10.1097/Mnh.0B013E32835Cecf8 |
0.411 |
|
| 2013 |
Levinsohn JL, Tian LC, Boyden LM, McNiff JM, Narayan D, Loring ES, Yun D, Sugarman JL, Overton JD, Mane SM, Lifton RP, Paller AS, Wagner AM, Antaya RJ, Choate KA. Whole-exome sequencing reveals somatic mutations in HRAS and KRAS, which cause nevus sebaceus. The Journal of Investigative Dermatology. 133: 827-30. PMID 23096712 DOI: 10.1038/Jid.2012.379 |
0.781 |
|
| 2012 |
Sanna-Cherchi S, Kiryluk K, Burgess KE, Bodria M, Sampson MG, Hadley D, Nees SN, Verbitsky M, Perry BJ, Sterken R, Lozanovski VJ, Materna-Kiryluk A, Barlassina C, Kini A, Corbani V, ... ... Lifton RP, et al. Copy-number disorders are a common cause of congenital kidney malformations. American Journal of Human Genetics. 91: 987-97. PMID 23159250 DOI: 10.1016/J.Ajhg.2012.10.007 |
0.774 |
|
| 2012 |
Russell JF, Steckley JL, Coppola G, Hahn AF, Howard MA, Kornberg Z, Huang A, Mirsattari SM, Merriman B, Klein E, Choi M, Lee HY, Kirk A, Nelson-Williams C, Gibson G, ... ... Lifton RP, et al. Familial cortical myoclonus with a mutation in NOL3. Annals of Neurology. 72: 175-83. PMID 22926851 DOI: 10.1002/Ana.23666 |
0.538 |
|
| 2012 |
Scholl UI, Dave HB, Lu M, Farhi A, Nelson-Williams C, Listman JA, Lifton RP. SeSAME/EAST syndrome--phenotypic variability and delayed activity of the distal convoluted tubule. Pediatric Nephrology (Berlin, Germany). 27: 2081-90. PMID 22907601 DOI: 10.1007/S00467-012-2219-4 |
0.364 |
|
| 2012 |
Åkerström T, Crona J, Delgado Verdugo A, Starker LF, Cupisti K, Willenberg HS, Knoefel WT, Saeger W, Feller A, Ip J, Soon P, Anlauf M, Alesina PF, Schmid KW, Decaussin M, ... ... Lifton RP, et al. Comprehensive re-sequencing of adrenal aldosterone producing lesions reveal three somatic mutations near the KCNJ5 potassium channel selectivity filter. Plos One. 7: e41926. PMID 22848660 DOI: 10.1371/Journal.Pone.0041926 |
0.604 |
|
| 2012 |
Krauthammer M, Kong Y, Ha BH, Evans P, Bacchiocchi A, McCusker JP, Cheng E, Davis MJ, Goh G, Choi M, Ariyan S, Narayan D, Dutton-Regester K, Capatana A, Holman EC, ... ... Lifton RP, et al. Exome sequencing identifies recurrent somatic RAC1 mutations in melanoma. Nature Genetics. 44: 1006-14. PMID 22842228 DOI: 10.1038/Ng.2359 |
0.789 |
|
| 2012 |
Cromer MK, Starker LF, Choi M, Udelsman R, Nelson-Williams C, Lifton RP, Carling T. Identification of somatic mutations in parathyroid tumors using whole-exome sequencing. The Journal of Clinical Endocrinology and Metabolism. 97: E1774-81. PMID 22740705 DOI: 10.1210/Jc.2012-1743 |
0.578 |
|
| 2012 |
Kiryluk K, Li Y, Sanna-Cherchi S, Rohanizadegan M, Suzuki H, Eitner F, Snyder HJ, Choi M, Hou P, Scolari F, Izzi C, Gigante M, Gesualdo L, Savoldi S, Amoroso A, ... ... Lifton RP, et al. Geographic differences in genetic susceptibility to IgA nephropathy: GWAS replication study and geospatial risk analysis. Plos Genetics. 8: e1002765. PMID 22737082 DOI: 10.1371/Journal.Pgen.1002765 |
0.513 |
|
| 2012 |
Fonseca AL, Kugelberg J, Starker LF, Scholl U, Choi M, Hellman P, Åkerström G, Westin G, Lifton RP, Björklund P, Carling T. Comprehensive DNA methylation analysis of benign and malignant adrenocortical tumors. Genes, Chromosomes & Cancer. 51: 949-60. PMID 22733721 DOI: 10.1002/Gcc.21978 |
0.483 |
|
| 2012 |
Bamshad MJ, Shendure JA, Valle D, Hamosh A, Lupski JR, Gibbs RA, Boerwinkle E, Lifton RP, Gerstein M, Gunel M, Mane S, Nickerson DA. The Centers for Mendelian Genomics: a new large-scale initiative to identify the genes underlying rare Mendelian conditions. American Journal of Medical Genetics. Part A. 158: 1523-5. PMID 22628075 DOI: 10.1002/Ajmg.A.35470 |
0.322 |
|
| 2012 |
Yang CS, Lu Y, Farhi A, Nelson-Williams C, Kashgarian M, Glusac EJ, Lifton RP, Antaya RJ, Choate KA. An incompletely penetrant novel mutation in COL7A1 causes epidermolysis bullosa pruriginosa and dominant dystrophic epidermolysis bullosa phenotypes in an extended kindred. Pediatric Dermatology. 29: 725-31. PMID 22515571 DOI: 10.1111/j.1525-1470.2012.01757.x |
0.646 |
|
| 2012 |
Sanders SJ, Murtha MT, Gupta AR, Murdoch JD, Raubeson MJ, Willsey AJ, Ercan-Sencicek AG, DiLullo NM, Parikshak NN, Stein JL, Walker MF, Ober GT, Teran NA, Song Y, El-Fishawy P, ... ... Lifton RP, et al. De novo mutations revealed by whole-exome sequencing are strongly associated with autism. Nature. 485: 237-41. PMID 22495306 DOI: 10.1038/Nature10945 |
0.829 |
|
| 2012 |
Lo SM, Choi M, Liu J, Jain D, Boot RG, Kallemeijn WW, Aerts JM, Pashankar F, Kupfer GM, Mane S, Lifton RP, Mistry PK. Phenotype diversity in type 1 Gaucher disease: discovering the genetic basis of Gaucher disease/hematologic malignancy phenotype by individual genome analysis. Blood. 119: 4731-40. PMID 22493294 DOI: 10.1182/Blood-2011-10-386862 |
0.632 |
|
| 2012 |
Scholl UI, Nelson-Williams C, Yue P, Grekin R, Wyatt RJ, Dillon MJ, Couch R, Hammer LK, Harley FL, Farhi A, Wang WH, Lifton RP. Hypertension with or without adrenal hyperplasia due to different inherited mutations in the potassium channel KCNJ5. Proceedings of the National Academy of Sciences of the United States of America. 109: 2533-8. PMID 22308486 DOI: 10.1073/Pnas.1121407109 |
0.471 |
|
| 2012 |
Boyden LM, Choi M, Choate KA, Nelson-Williams CJ, Farhi A, Toka HR, Tikhonova IR, Bjornson R, Mane SM, Colussi G, Lebel M, Gordon RD, Semmekrot BA, Poujol A, Välimäki MJ, ... ... Lifton RP, et al. Mutations in kelch-like 3 and cullin 3 cause hypertension and electrolyte abnormalities. Nature. 482: 98-102. PMID 22266938 DOI: 10.1038/Nature10814 |
0.841 |
|
| 2012 |
Starker LF, Akerström T, Long WD, Delgado-Verdugo A, Donovan P, Udelsman R, Lifton RP, Carling T. Frequent germ-line mutations of the MEN1, CASR, and HRPT2/CDC73 genes in young patients with clinically non-familial primary hyperparathyroidism. Hormones & Cancer. 3: 44-51. PMID 22187299 DOI: 10.1007/S12672-011-0100-8 |
0.404 |
|
| 2012 |
Lifton RP, Dluhy RG. The molecular basis of a hereditary form of hypertension, glucocorticoid-remediable aldosteronism. Trends in Endocrinology and Metabolism: Tem. 4: 57-61. PMID 18407135 DOI: 10.1016/S1043-2760(05)80016-5 |
0.417 |
|
| 2012 |
Kiryluk K, Li Y, Sanna-Cherchi S, Rohanizadegan M, Suzuki H, Eitner F, Snyder HJ, Choi M, Hou P, Scolari F, Izzi C, Gigante M, Gesualdo L, Savoldi S, Amoroso A, ... ... Lifton RP, et al. Haplotype analysis of rs9275224, rs2856717, rs9275424, and rs9275596 at the HLA-DQB1/DRB1 locus. Plos Genetics. DOI: 10.1371/Journal.Pgen.1002765.T003 |
0.415 |
|
| 2012 |
Sanjad S, Lu Y, Khoury C, Habbal Z, Lifton R. 1201 Whole Exon Deletion in the Claudin 16 Gene, a Novel Mutation in Familial Hypomagnesemia/Hypercalciuria/Nephrocalcinosis (FHHNC) and Sensorineural Deafness (SND) Archives of Disease in Childhood. 97. DOI: 10.1136/Archdischild-2012-302724.1201 |
0.455 |
|
| 2012 |
Lifton RP. 5 MUTATIONS IN K+ CHANNEL KCNJ5 (KIR3.4) COMMONLY CAUSE ALDOSTERONE-PRODUCING ADENOMAS Journal of Hypertension. 30: e2. DOI: 10.1097/01.Hjh.0000419831.36013.72 |
0.377 |
|
| 2011 |
Yasuno K, Bakırcıoğlu M, Low SK, Bilgüvar K, Gaál E, Ruigrok YM, Niemelä M, Hata A, Bijlenga P, Kasuya H, Jääskeläinen JE, Krex D, Auburger G, Simon M, Krischek B, ... ... Lifton RP, et al. Common variant near the endothelin receptor type A (EDNRA) gene is associated with intracranial aneurysm risk. Proceedings of the National Academy of Sciences of the United States of America. 108: 19707-12. PMID 22106312 DOI: 10.1073/Pnas.1117137108 |
0.334 |
|
| 2011 |
Rinehart J, Vázquez N, Kahle KT, Hodson CA, Ring AM, Gulcicek EE, Louvi A, Bobadilla NA, Gamba G, Lifton RP. WNK2 kinase is a novel regulator of essential neuronal cation-chloride cotransporters. The Journal of Biological Chemistry. 286: 30171-80. PMID 21733846 DOI: 10.1074/Jbc.M111.222893 |
0.532 |
|
| 2011 |
Sanders SJ, Ercan-Sencicek AG, Hus V, Luo R, Murtha MT, Moreno-De-Luca D, Chu SH, Moreau MP, Gupta AR, Thomson SA, Mason CE, Bilguvar K, Celestino-Soper PB, Choi M, Crawford EL, ... ... Lifton RP, et al. Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism. Neuron. 70: 863-85. PMID 21658581 DOI: 10.1016/J.Neuron.2011.05.002 |
0.783 |
|
| 2011 |
Barak T, Kwan KY, Louvi A, Demirbilek V, Sayg? S, Tüysüz B, Choi M, Boyac? H, Doerschner K, Zhu Y, Kaymakçalan H, Y?lmaz S, Bak?rc?o?lu M, Ca?layan AO, Oztürk AK, ... ... Lifton RP, et al. Recessive LAMC3 mutations cause malformations of occipital cortical development. Nature Genetics. 43: 590-4. PMID 21572413 DOI: 10.1038/Ng.836 |
0.589 |
|
| 2011 |
Gharavi AG, Kiryluk K, Choi M, Li Y, Hou P, Xie J, Sanna-Cherchi S, Men CJ, Julian BA, Wyatt RJ, Novak J, He JC, Wang H, Lv J, Zhu L, ... ... Lifton RP, et al. Genome-wide association study identifies susceptibility loci for IgA nephropathy. Nature Genetics. 43: 321-7. PMID 21399633 DOI: 10.1038/Ng.787 |
0.735 |
|
| 2011 |
Choi M, Scholl UI, Yue P, Björklund P, Zhao B, Nelson-Williams C, Ji W, Cho Y, Patel A, Men CJ, Lolis E, Wisgerhof MV, Geller DS, Mane S, Hellman P, ... ... Lifton RP, et al. K+ channel mutations in adrenal aldosterone-producing adenomas and hereditary hypertension. Science (New York, N.Y.). 331: 768-72. PMID 21311022 DOI: 10.1126/Science.1198785 |
0.562 |
|
| 2011 |
Barbee SD, Woodward MJ, Turchinovich G, Mention JJ, Lewis JM, Boyden LM, Lifton RP, Tigelaar R, Hayday AC. Skint-1 is a highly specific, unique selecting component for epidermal T cells. Proceedings of the National Academy of Sciences of the United States of America. 108: 3330-5. PMID 21300860 DOI: 10.1073/Pnas.1010890108 |
0.702 |
|
| 2011 |
Fakhro KA, Choi M, Ware SM, Belmont JW, Towbin JA, Lifton RP, Khokha MK, Brueckner M. Rare copy number variations in congenital heart disease patients identify unique genes in left-right patterning. Proceedings of the National Academy of Sciences of the United States of America. 108: 2915-20. PMID 21282601 DOI: 10.1073/Pnas.1019645108 |
0.734 |
|
| 2011 |
Lee JS, Choi M, Yan X, Lifton RP, Zhao H. On optimal pooling designs to identify rare variants through massive resequencing. Genetic Epidemiology. 35: 139-47. PMID 21254222 DOI: 10.1002/Gepi.20561 |
0.471 |
|
| 2011 |
Keramati AR, Singh R, Lin A, Faramarzi S, Ye ZJ, Mane S, Tellides G, Lifton RP, Mani A. Wild-type LRP6 inhibits, whereas atherosclerosis-linked LRP6R611C increases PDGF-dependent vascular smooth muscle cell proliferation. Proceedings of the National Academy of Sciences of the United States of America. 108: 1914-8. PMID 21245321 DOI: 10.1073/Pnas.1019443108 |
0.308 |
|
| 2011 |
Monette MY, Rinehart J, Lifton RP, Forbush B. Rare mutations in the human Na-K-Cl cotransporter (NKCC2) associated with lower blood pressure exhibit impaired processing and transport function. American Journal of Physiology. Renal Physiology. 300: F840-7. PMID 21209010 DOI: 10.1152/Ajprenal.00552.2010 |
0.393 |
|
| 2011 |
Walsh KM, Choi M, Oberg K, Kulke MH, Yao JC, Wu C, Jurkiewicz M, Hsu LI, Hooshmand SM, Hassan M, Janson ET, Cunningham JL, Vosburgh E, Sackler RS, Lifton RP, et al. A pilot genome-wide association study shows genomic variants enriched in the non-tumor cells of patients with well-differentiated neuroendocrine tumors of the ileum. Endocrine-Related Cancer. 18: 171-80. PMID 21139019 DOI: 10.1677/Erc-10-0248 |
0.512 |
|
| 2010 |
Hadchouel J, Soukaseum C, Büsst C, Zhou XO, Baudrie V, Zürrer T, Cambillau M, Elghozi JL, Lifton RP, Loffing J, Jeunemaitre X. Decreased ENaC expression compensates the increased NCC activity following inactivation of the kidney-specific isoform of WNK1 and prevents hypertension. Proceedings of the National Academy of Sciences of the United States of America. 107: 18109-14. PMID 20921400 DOI: 10.1073/Pnas.1006128107 |
0.336 |
|
| 2010 |
Choate KA, Lu Y, Zhou J, Choi M, Elias PM, Farhi A, Nelson-Williams C, Crumrine D, Williams ML, Nopper AJ, Bree A, Milstone LM, Lifton RP. Mitotic recombination in patients with ichthyosis causes reversion of dominant mutations in KRT10. Science (New York, N.Y.). 330: 94-7. PMID 20798280 DOI: 10.1126/Science.1192280 |
0.734 |
|
| 2010 |
Bilgüvar K, Oztürk AK, Louvi A, Kwan KY, Choi M, Tatli B, Yalnizo?lu D, Tüysüz B, Ca?layan AO, Gökben S, Kaymakçalan H, Barak T, Bakircio?lu M, Yasuno K, Ho W, ... ... Lifton RP, et al. Whole-exome sequencing identifies recessive WDR62 mutations in severe brain malformations. Nature. 467: 207-10. PMID 20729831 DOI: 10.1038/Nature09327 |
0.824 |
|
| 2010 |
Kahle KT, Rinehart J, Lifton RP. Phosphoregulation of the Na-K-2Cl and K-Cl cotransporters by the WNK kinases. Biochimica Et Biophysica Acta. 1802: 1150-8. PMID 20637866 DOI: 10.1016/J.Bbadis.2010.07.009 |
0.548 |
|
| 2010 |
Ercan-Sencicek AG, Stillman AA, Ghosh AK, Bilguvar K, O'Roak BJ, Mason CE, Abbott T, Gupta A, King RA, Pauls DL, Tischfield JA, Heiman GA, Singer HS, Gilbert DL, Hoekstra PJ, ... ... Lifton RP, et al. L-histidine decarboxylase and Tourette's syndrome. The New England Journal of Medicine. 362: 1901-8. PMID 20445167 DOI: 10.1056/Nejmoa0907006 |
0.802 |
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| 2010 |
Yasuno K, Bilguvar K, Bijlenga P, Low SK, Krischek B, Auburger G, Simon M, Krex D, Arlier Z, Nayak N, Ruigrok YM, Niemelä M, Tajima A, von und zu Fraunberg M, Dóczi T, ... ... Lifton RP, et al. Genome-wide association study of intracranial aneurysm identifies three new risk loci. Nature Genetics. 42: 420-5. PMID 20364137 DOI: 10.1038/Ng.563 |
0.687 |
|
| 2010 |
O'Roak BJ, Morgan TM, Fishman DO, Saus E, Alonso P, Gratacòs M, Estivill X, Teltsh O, Kohn Y, Kidd KK, Cho J, Lifton RP, State MW. Additional support for the association of SLITRK1 var321 and Tourette syndrome. Molecular Psychiatry. 15: 447-50. PMID 20351724 DOI: 10.1038/Mp.2009.105 |
0.822 |
|
| 2010 |
Petersen KF, Dufour S, Hariri A, Nelson-Williams C, Foo JN, Zhang XM, Dziura J, Lifton RP, Shulman GI. Apolipoprotein C3 gene variants in nonalcoholic fatty liver disease. The New England Journal of Medicine. 362: 1082-9. PMID 20335584 DOI: 10.1056/Nejmoa0907295 |
0.565 |
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| 2010 |
Lifton RP. Individual genomes on the horizon. The New England Journal of Medicine. 362: 1235-6. PMID 20220178 DOI: 10.1056/Nejme1001090 |
0.351 |
|
| 2010 |
Brownstein CA, Zhang J, Stillman A, Ellis B, Troiano N, Adams DJ, Gundberg CM, Lifton RP, Carpenter TO. Increased bone volume and correction of HYP mouse hypophosphatemia in the Klotho/HYP mouse. Endocrinology. 151: 492-501. PMID 19952276 DOI: 10.1210/En.2009-0564 |
0.772 |
|
| 2009 |
DiLuna ML, Bilguvar K, Louvi A, Bizzarro M, Bayrakli F, Bayri Y, Bydon M, Schneider K, Duncan CC, State M, Lifton RP, Ment LR, Gunel M. Mutations in the Type IV Collagens, COL4A1 and COL4A2 are Associated with Intraventricular Hemorrhage in Preterm Infants: 956. Neurosurgery. 65: 419. PMID 28173201 DOI: 10.1227/01.Neu.0000358727.92507.Ea |
0.702 |
|
| 2009 |
Bilguvar K, Ozturk AK, Bayrakli F, Guzel A, DiLuna ML, Bayri Y, Tatli M, Tekes S, Arlier Z, Yasuno K, Mason CE, Lifton RP, State MW, Gunel M. The syndrome of pachygyria, mental retardation, and arachnoid cysts maps to 11p15. American Journal of Medical Genetics. Part A. 149: 2569-72. PMID 19876906 DOI: 10.1002/Ajmg.A.33063 |
0.715 |
|
| 2009 |
Choi M, Scholl UI, Ji W, Liu T, Tikhonova IR, Zumbo P, Nayir A, Bakkalo?lu A, Ozen S, Sanjad S, Nelson-Williams C, Farhi A, Mane S, Lifton RP. Genetic diagnosis by whole exome capture and massively parallel DNA sequencing. Proceedings of the National Academy of Sciences of the United States of America. 106: 19096-101. PMID 19861545 DOI: 10.1073/Pnas.0910672106 |
0.596 |
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| 2009 |
Bilguvar K, DiLuna ML, Bizzarro MJ, Bayri Y, Schneider KC, Lifton RP, Gunel M, Ment LR. COL4A1 mutation in preterm intraventricular hemorrhage. The Journal of Pediatrics. 155: 743-5. PMID 19840616 DOI: 10.1016/J.Jpeds.2009.04.014 |
0.425 |
|
| 2009 |
Yue P, Lin DH, Pan CY, Leng Q, Giebisch G, Lifton RP, Wang WH. Src family protein tyrosine kinase (PTK) modulates the effect of SGK1 and WNK4 on ROMK channels. Proceedings of the National Academy of Sciences of the United States of America. 106: 15061-6. PMID 19706464 DOI: 10.1073/Pnas.0907855106 |
0.31 |
|
| 2009 |
Scholl UI, Choi M, Liu T, Ramaekers VT, Häusler MG, Grimmer J, Tobe SW, Farhi A, Nelson-Williams C, Lifton RP. Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance (SeSAME syndrome) caused by mutations in KCNJ10. Proceedings of the National Academy of Sciences of the United States of America. 106: 5842-7. PMID 19289823 DOI: 10.1073/Pnas.0901749106 |
0.595 |
|
| 2009 |
San-Cristobal P, Pacheco-Alvarez D, Richardson C, Ring AM, Vazquez N, Rafiqi FH, Chari D, Kahle KT, Leng Q, Bobadilla NA, Hebert SC, Alessi DR, Lifton RP, Gamba G. Angiotensin II signaling increases activity of the renal Na-Cl cotransporter through a WNK4-SPAK-dependent pathway. Proceedings of the National Academy of Sciences of the United States of America. 106: 4384-9. PMID 19240212 DOI: 10.1073/Pnas.0813238106 |
0.579 |
|
| 2009 |
Lowe JK, Maller JB, Pe'er I, Neale BM, Salit J, Kenny EE, Shea JL, Burkhardt R, Smith JG, Ji W, Noel M, Foo JN, Blundell ML, Skilling V, Garcia L, ... ... Lifton RP, et al. Genome-wide association studies in an isolated founder population from the Pacific Island of Kosrae. Plos Genetics. 5: e1000365. PMID 19197348 DOI: 10.1371/Journal.Pgen.1000365 |
0.609 |
|
| 2009 |
Grünfeld J, Scholl U, Bockenhauer D, Glaudemans B, van Bommel E, Scheel P, Delvaeye M, Choi M, Liu T, Ramaekers V, Häusler M, Grimmer J, Tobe S, Farhi A, Nelson-Williams C, ... Lifton R, et al. Rare but Relevant Kidney DisordersSeizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance (SeSAME syndrome) caused by mutations in KCNJ10. Proc Natl Acad Sci U S A 106: 5842–5847, 2009Epilepsy, ataxia, sensorineural deafness, tubulopathy, and KCNJ10 mutations. N Engl J Med 360: 1960–1970, 2009A missense mutation in the Kv1.1 voltage-gated potassium channel-encoding gene KCNA1 is linked to human autosomal dominant hypomagnesemia. J Clin Invest 119: 936–942, 2009Idiopathic retroperitoneal fibrosis: Prospective evaluation of incidence and clinicoradiologic presentation. Medicine 88: 193–201, 2009Retroperitoneal fibrosis: The clinical, laboratory, and radiographic presentation. Medicine 88: 202–207, 2009Thrombomodulin mutations in atypical hemolytic-uremic syndrome. N Engl J Med 361: 345–357, 2009 Clinical Journal of the American Society of Nephrology. 4: 1701-1704. DOI: 10.2215/CJN.06710909 |
0.325 |
|
| 2009 |
Kahle KT, Wilson FH, Lifton RP. The Syndrome of Hypertension and Hyperkalemia (Pseudohypoaldosteronism Type II): WNK Kinases Regulate the Balance Between Renal Salt Reabsorption and Potassium Secretion Genetic Diseases of the Kidney. 313-329. DOI: 10.1016/B978-0-12-449851-8.00019-X |
0.725 |
|
| 2009 |
Lifton RP, Boyden LM. Genetic Approaches to Human Disease Genetic Diseases of the Kidney. 3-24. DOI: 10.1016/B978-0-12-449851-8.00001-2 |
0.687 |
|
| 2008 |
Bilguvar K, Yasuno K, Niemelä M, Ruigrok YM, von Und Zu Fraunberg M, van Duijn CM, van den Berg LH, Mane S, Mason CE, Choi M, Gaál E, Bayri Y, Kolb L, Arlier Z, Ravuri S, ... ... Lifton RP, et al. Susceptibility loci for intracranial aneurysm in European and Japanese populations. Nature Genetics. 40: 1472-7. PMID 18997786 DOI: 10.1038/Ng.240 |
0.759 |
|
| 2008 |
Kahle KT, Staley KJ, Nahed BV, Gamba G, Hebert SC, Lifton RP, Mount DB. Roles of the cation-chloride cotransporters in neurological disease. Nature Clinical Practice. Neurology. 4: 490-503. PMID 18769373 DOI: 10.1038/Ncpneuro0883 |
0.543 |
|
| 2008 |
Fernandez T, Morgan T, Davis N, Klin A, Morris A, Farhi A, Lifton RP, State MW. Disruption of Contactin 4 (CNTN4) results in developmental delay and other features of 3p deletion syndrome. American Journal of Human Genetics. 82: 1385. PMID 18551756 DOI: 10.1016/j.ajhg.2008.04.021 |
0.758 |
|
| 2008 |
Ponce-Coria J, San-Cristobal P, Kahle KT, Vazquez N, Pacheco-Alvarez D, de Los Heros P, Juárez P, Muñoz E, Michel G, Bobadilla NA, Gimenez I, Lifton RP, Hebert SC, Gamba G. Regulation of NKCC2 by a chloride-sensing mechanism involving the WNK3 and SPAK kinases. Proceedings of the National Academy of Sciences of the United States of America. 105: 8458-63. PMID 18550832 DOI: 10.1073/Pnas.0802966105 |
0.607 |
|
| 2008 |
Geller DS, Zhang J, Wisgerhof MV, Shackleton C, Kashgarian M, Lifton RP. A novel form of human mendelian hypertension featuring nonglucocorticoid- remediable aldosteronism Journal of Clinical Endocrinology and Metabolism. 93: 3117-3123. PMID 18505761 DOI: 10.1210/Jc.2008-0594 |
0.305 |
|
| 2008 |
Boyden LM, Lewis JM, Barbee SD, Bas A, Girardi M, Hayday AC, Tigelaar RE, Lifton RP. Skint1, the prototype of a newly identified immunoglobulin superfamily gene cluster, positively selects epidermal gammadelta T cells. Nature Genetics. 40: 656-62. PMID 18408721 DOI: 10.1038/Ng.108 |
0.723 |
|
| 2008 |
Ji W, Foo JN, O'Roak BJ, Zhao H, Larson MG, Simon DB, Newton-Cheh C, State MW, Levy D, Lifton RP. Rare independent mutations in renal salt handling genes contribute to blood pressure variation. Nature Genetics. 40: 592-9. PMID 18391953 DOI: 10.1038/Ng.118 |
0.823 |
|
| 2008 |
Tüysüz B, Bayrakli F, DiLuna ML, Bilguvar K, Bayri Y, Yalcinkaya C, Bursali A, Ozdamar E, Korkmaz B, Mason CE, Ozturk AK, Lifton RP, State MW, Gunel M. Novel NTRK1 mutations cause hereditary sensory and autonomic neuropathy type IV: demonstration of a founder mutation in the Turkish population. Neurogenetics. 9: 119-25. PMID 18322713 DOI: 10.1007/S10048-008-0121-9 |
0.799 |
|
| 2008 |
Brownstein CA, Adler F, Nelson-Williams C, Iijima J, Li P, Imura A, Nabeshima Y, Reyes-Mugica M, Carpenter TO, Lifton RP. A translocation causing increased alpha-klotho level results in hypophosphatemic rickets and hyperparathyroidism. Proceedings of the National Academy of Sciences of the United States of America. 105: 3455-60. PMID 18308935 DOI: 10.1073/Pnas.0712361105 |
0.626 |
|
| 2008 |
Kahle KT, Rinehart J, Giebisch G, Gamba G, Hebert SC, Lifton RP. A novel protein kinase signaling pathway essential for blood pressure regulation in humans. Trends in Endocrinology and Metabolism: Tem. 19: 91-5. PMID 18280177 DOI: 10.1016/J.Tem.2008.01.001 |
0.581 |
|
| 2008 |
Gharavi AG, Moldoveanu Z, Wyatt RJ, Barker CV, Woodford SY, Lifton RP, Mestecky J, Novak J, Julian BA. Aberrant IgA1 glycosylation is inherited in familial and sporadic IgA nephropathy. Journal of the American Society of Nephrology : Jasn. 19: 1008-14. PMID 18272841 DOI: 10.1681/Asn.2007091052 |
0.343 |
|
| 2008 |
Bakkaloglu B, O'Roak BJ, Louvi A, Gupta AR, Abelson JF, Morgan TM, Chawarska K, Klin A, Ercan-Sencicek AG, Stillman AA, Tanriover G, Abrahams BS, Duvall JA, Robbins EM, Geschwind DH, ... ... Lifton RP, et al. Molecular cytogenetic analysis and resequencing of contactin associated protein-like 2 in autism spectrum disorders. American Journal of Human Genetics. 82: 165-73. PMID 18179895 DOI: 10.1016/J.Ajhg.2007.09.017 |
0.813 |
|
| 2008 |
Kahle KT, Ring AM, Lifton RP. Molecular physiology of the WNK kinases. Annual Review of Physiology. 70: 329-55. PMID 17961084 DOI: 10.1146/Annurev.Physiol.70.113006.100651 |
0.564 |
|
| 2008 |
Kahle KT, Ring AM, Lifton RP. Molecular physiology of the WNK kinases Annual Review of Physiology. 70: 329-355. DOI: 10.1146/annurev.physiol.70.113006.100651 |
0.43 |
|
| 2007 |
Bilguvar K, Bydon M, Bayrakli F, Ercan-Sencicek AG, Bayri Y, Mason C, DiLuna ML, Seashore M, Bronen R, Lifton RP, State M, Gunel M. A novel syndrome of cerebral cavernous malformation and Greig cephalopolysyndactyly: Laboratory investigation Journal of Neurosurgery. 107: 495-499. PMID 18154020 DOI: 10.3171/Ped-07/12/495 |
0.776 |
|
| 2007 |
Bayrakli F, Bilguvar K, Mason CE, DiLuna ML, Bayri Y, Gungor L, Terzi M, Mane SM, Lifton RP, State MW, Gunel M. Rapid identification of disease-causing mutations using copy number analysis within linkage intervals. Human Mutation. 28: 1236-40. PMID 17676595 DOI: 10.1002/Humu.20592 |
0.781 |
|
| 2007 |
Ring AM, Leng Q, Rinehart J, Wilson FH, Kahle KT, Hebert SC, Lifton RP. An SGK1 site in WNK4 regulates Na+ channel and K+ channel activity and has implications for aldosterone signaling and K+ homeostasis. Proceedings of the National Academy of Sciences of the United States of America. 104: 4025-9. PMID 17360471 DOI: 10.1073/Pnas.0611728104 |
0.748 |
|
| 2007 |
Ring AM, Cheng SX, Leng Q, Kahle KT, Rinehart J, Lalioti MD, Volkman HM, Wilson FH, Hebert SC, Lifton RP. WNK4 regulates activity of the epithelial Na+ channel in vitro and in vivo. Proceedings of the National Academy of Sciences of the United States of America. 104: 4020-4. PMID 17360470 DOI: 10.1073/Pnas.0611727104 |
0.763 |
|
| 2007 |
Mani A, Radhakrishnan J, Wang H, Mani A, Mani MA, Nelson-Williams C, Carew KS, Mane S, Najmabadi H, Wu D, Lifton RP. LRP6 mutation in a family with early coronary disease and metabolic risk factors. Science (New York, N.Y.). 315: 1278-82. PMID 17332414 DOI: 10.1126/Science.1136370 |
0.406 |
|
| 2007 |
Sanjad SA, Hariri A, Habbal ZM, Lifton RP. A novel PCLN-1 gene mutation in familial hypomagnesemia with hypercalciuria and atypical phenotype Pediatric Nephrology. 22: 503-508. PMID 17123117 DOI: 10.1007/S00467-006-0354-5 |
0.468 |
|
| 2007 |
Mani A, Radhakrishnan J, Wang H, Mani A, Mani MA, Nelson-Williams C, Carew KS, Mane S, Najmabadi H, Wu D, Lifton RP. Metabolic Syndrome—What We Know and What We Don't Know LPR6 Mutation in a Family with Early Coronary Disease and Metabolic Risk Factors. Science 315: 1278–1282, 2007 Journal of the American Society of Nephrology. 18: 1619-1623. DOI: 10.1681/Asn.2007040522 |
0.313 |
|
| 2006 |
Kahle KT, Rinehart J, Ring A, Gimenez I, Gamba G, Hebert SC, Lifton RP. WNK protein kinases modulate cellular Cl- flux by altering the phosphorylation state of the Na-K-Cl and K-Cl cotransporters. Physiology (Bethesda, Md.). 21: 326-35. PMID 16990453 DOI: 10.1152/Physiol.00015.2006 |
0.544 |
|
| 2006 |
Kovacikova J, Winter C, Loffing-Cueni D, Loffing J, Finberg KE, Lifton RP, Hummler E, Rossier B, Wagner CA. The connecting tubule is the main site of the furosemide-induced urinary acidification by the vacuolar H+-ATPase Kidney International. 70: 1706-1716. PMID 16985514 DOI: 10.1038/Sj.Ki.5001851 |
0.644 |
|
| 2006 |
Lalioti MD, Zhang J, Volkman HM, Kahle KT, Hoffmann KE, Toka HR, Nelson-Williams C, Ellison DH, Flavell R, Booth CJ, Lu Y, Geller DS, Lifton RP. Wnk4 controls blood pressure and potassium homeostasis via regulation of mass and activity of the distal convoluted tubule. Nature Genetics. 38: 1124-32. PMID 16964266 DOI: 10.1038/Ng1877 |
0.7 |
|
| 2006 |
Ma B, Blackburn MR, Lee CG, Homer RJ, Liu W, Flavell RA, Boyden L, Lifton RP, Sun CX, Young HW, Elias JA. Adenosine metabolism and murine strain-specific IL-4-induced inflammation, emphysema, and fibrosis. The Journal of Clinical Investigation. 116: 1274-83. PMID 16670768 DOI: 10.1172/Jci26372 |
0.689 |
|
| 2006 |
Geller DS, Zhang J, Zennaro MC, Vallo-Boado A, Rodriguez-Soriano J, Furu L, Haws R, Metzger D, Botelho B, Karaviti L, Haqq AM, Corey H, Janssens S, Corvol P, Lifton RP. Autosomal dominant pseudohypoaldosteronism type 1: Mechanisms, evidence for neonatal lethality, and phenotypic expression in adults Journal of the American Society of Nephrology. 17: 1429-1436. PMID 16611713 DOI: 10.1681/Asn.2005111188 |
0.441 |
|
| 2006 |
Liu N, Beerman I, Lifton R, Zhao H. Haplotype analysis in the presence of informatively missing genotype data Genetic Epidemiology. 30: 290-300. PMID 16528706 DOI: 10.1002/Gepi.20144 |
0.66 |
|
| 2006 |
Izzi C, Sanna-Cherchi S, Prati E, Belleri R, Remedio A, Tardanico R, Foramitti M, Guerini S, Viola BF, Movilli E, Beerman I, Lifton R, Leone L, Gharavi A, Scolari F. Familial aggregation of primary glomerulonephritis in an Italian population isolate: Valtrompia study Kidney International. 69: 1033-1040. PMID 16528253 DOI: 10.1038/Sj.Ki.5000185 |
0.683 |
|
| 2006 |
Ozturk AK, Nahed BV, Bydon M, Bilguvar K, Goksu E, Bademci G, Guclu B, Johnson MH, Amar A, Lifton RP, Gunel M. Molecular genetic analysis of two large kindreds with intracranial aneurysms demonstrates linkage to 11q24-25 and 14q23-31. Stroke; a Journal of Cerebral Circulation. 37: 1021-7. PMID 16497978 DOI: 10.1161/01.Str.0000206153.92675.B9 |
0.312 |
|
| 2006 |
de Los Heros P, Kahle KT, Rinehart J, Bobadilla NA, Vázquez N, San Cristobal P, Mount DB, Lifton RP, Hebert SC, Gamba G. WNK3 bypasses the tonicity requirement for K-Cl cotransporter activation via a phosphatase-dependent pathway. Proceedings of the National Academy of Sciences of the United States of America. 103: 1976-81. PMID 16446421 DOI: 10.1073/Pnas.0510947103 |
0.561 |
|
| 2006 |
Leng Q, Kahle KT, Rinehart J, MacGregor GG, Wilson FH, Canessa CM, Lifton RP, Hebert SC. WNK3, a kinase related to genes mutated in hereditary hypertension with hyperkalaemia, regulates the K+ channel ROMK1 (Kir1.1). The Journal of Physiology. 571: 275-86. PMID 16357011 DOI: 10.1113/Jphysiol.2005.102202 |
0.776 |
|
| 2005 |
Rinehart J, Kahle KT, de Los Heros P, Vazquez N, Meade P, Wilson FH, Hebert SC, Gimenez I, Gamba G, Lifton RP. WNK3 kinase is a positive regulator of NKCC2 and NCC, renal cation-Cl- cotransporters required for normal blood pressure homeostasis. Proceedings of the National Academy of Sciences of the United States of America. 102: 16777-82. PMID 16275913 DOI: 10.1073/Pnas.0508303102 |
0.76 |
|
| 2005 |
Kahle KT, Rinehart J, de Los Heros P, Louvi A, Meade P, Vazquez N, Hebert SC, Gamba G, Gimenez I, Lifton RP. WNK3 modulates transport of Cl- in and out of cells: implications for control of cell volume and neuronal excitability. Proceedings of the National Academy of Sciences of the United States of America. 102: 16783-8. PMID 16275911 DOI: 10.1073/Pnas.0508307102 |
0.521 |
|
| 2005 |
Abelson JF, Kwan KY, O'Roak BJ, Baek DY, Stillman AA, Morgan TM, Mathews CA, Pauls DL, Rasin MR, Gunel M, Davis NR, Ercan-Sencicek AG, Guez DH, Spertus JA, Leckman JF, ... ... Lifton RP, et al. Sequence variants in SLITRK1 are associated with Tourette's syndrome. Science (New York, N.Y.). 310: 317-20. PMID 16224024 DOI: 10.1126/Science.1116502 |
0.802 |
|
| 2005 |
Finberg KE, Wagner CA, Bailey MA, Paunescu TG, Breton S, Brown D, Giebisch G, Geibel JP, Lifton RP. The B1-subunit of the H(+) ATPase is required for maximal urinary acidification. Proceedings of the National Academy of Sciences of the United States of America. 102: 13616-21. PMID 16174750 DOI: 10.1073/Pnas.0506769102 |
0.652 |
|
| 2005 |
Kahle KT, Wilson FH, Lifton RP. Regulation of diverse ion transport pathways by WNK4 kinase: A novel molecular switch Trends in Endocrinology and Metabolism. 16: 98-103. PMID 15808806 DOI: 10.1016/J.Tem.2005.02.012 |
0.768 |
|
| 2005 |
Mani A, Radhakrishnan J, Farhi A, Carew KS, Warnes CA, Nelson-Williams C, Day RW, Pober B, State MW, Lifton RP. Syndromic patent ductus arteriosus: evidence for haploinsufficient TFAP2B mutations and identification of a linked sleep disorder. Proceedings of the National Academy of Sciences of the United States of America. 102: 2975-9. PMID 15684060 DOI: 10.1073/Pnas.0409852102 |
0.768 |
|
| 2005 |
Nahed BV, Seker A, Guclu B, Ozturk AK, Finberg K, Hawkins AA, DiLuna ML, State M, Lifton RP, Gunel M. Mapping a Mendelian form of intracranial aneurysm to 1p34.3-p36.13. American Journal of Human Genetics. 76: 172-9. PMID 15540160 DOI: 10.1086/426953 |
0.79 |
|
| 2004 |
Wilson FH, Hariri A, Farhi A, Zhao H, Petersen KF, Toka HR, Nelson-Williams C, Raja KM, Kashgarian M, Shulman GI, Scheinman SJ, Lifton RP. A cluster of metabolic defects caused by mutation in a mitochondrial tRNA Science. 306: 1190-1194. PMID 15498972 DOI: 10.1126/Science.1102521 |
0.699 |
|
| 2004 |
Kahle KT, MacGregor GG, Wilson FH, Van Hoek AN, Brown D, Ardito T, Kashgarian M, Giebisch G, Hebert SC, Boulpaep EL, Lifton RP. Paracellular Cl- permeability is regulated by WNK4 kinase: Insight into normal physiology and hypertension Proceedings of the National Academy of Sciences of the United States of America. 101: 14877-14882. PMID 15465913 DOI: 10.1073/Pnas.0406172101 |
0.763 |
|
| 2004 |
Kahle KT, Wilson FH, Lalioti M, Toka H, Qin H, Lifton RP. WNK kinases: molecular regulators of integrated epithelial ion transport. Current Opinion in Nephrology and Hypertension. 13: 557-62. PMID 15300163 DOI: 10.1097/00041552-200409000-00012 |
0.733 |
|
| 2004 |
Davila S, Furu L, Gharavi AG, Tian X, Onoe T, Qian Q, Li A, Cai Y, Kamath PS, King BF, Azurmendi PJ, Tahvanainen P, Kääriäinen H, Höckerstedt K, Devuyst O, ... ... Lifton RP, et al. Mutations in SEC63 cause autosomal dominant polycystic liver disease. Nature Genetics. 36: 575-7. PMID 15133510 DOI: 10.1038/Ng1357 |
0.398 |
|
| 2004 |
Fernandez T, Morgan T, Davis N, Klin A, Morris A, Farhi A, Lifton RP, State MW. Disruption of contactin 4 (CNTN4) results in developmental delay and other features of 3p deletion syndrome. American Journal of Human Genetics. 74: 1286-93. PMID 15106122 DOI: 10.1086/421474 |
0.788 |
|
| 2004 |
Guzeloglu-Kayisli O, Amankulor NM, Voorhees J, Luleci G, Lifton RP, Gunel M, Hodge CJ, Takagi Y, Hashimoto N, Connolly ES. KRIT1/Cerebral Cavernous Malformation 1 Protein Localizes to Vascular Endothelium, Astrocytes, and Pyramidal Cells of the Adult Human Cerebral Cortex Neurosurgery. 54: 943-949. PMID 15046662 DOI: 10.1227/01.Neu.0000114512.59624.A5 |
0.345 |
|
| 2004 |
Gharavi AG, Ahmad T, Wong RD, Hooshyar R, Vaughn J, Oller S, Frankel RZ, Bruggeman LA, D'Agati VD, Klotman PE, Lifton RP. Mapping a locus for susceptibility to HIV-1-associated nephropathy to mouse chromosome 3. Proceedings of the National Academy of Sciences of the United States of America. 101: 2488-93. PMID 14983036 DOI: 10.1073/Pnas.0308649100 |
0.311 |
|
| 2004 |
Kahle KT, Gimenez I, Hassan H, Wilson FH, Wong RD, Forbush B, Aronson PS, Lifton RP. WNK4 regulates apical and basolateral Cl- flux in extrarenal epithelia Proceedings of the National Academy of Sciences of the United States of America. 101: 2064-2069. PMID 14769928 DOI: 10.1073/Pnas.0308434100 |
0.756 |
|
| 2003 |
Stehberger PA, Schulz N, Finberg KE, Karet FE, Giebisch G, Lifton RP, Geibel JP, Wagner CA. Localization and Regulation of the ATP6V0A4 (a4) Vacuolar H +-ATPase Subunit Defective in an Inherited Form of Distal Renal Tubular Acidosis Journal of the American Society of Nephrology. 14: 3027-3038. PMID 14638902 DOI: 10.1097/01.Asn.0000099375.74789.Ab |
0.647 |
|
| 2003 |
Kahle KT, Wilson FH, Leng Q, Lalioti MD, O'Connell AD, Dong K, Rapson AK, MacGregor GG, Giebisch G, Hebert SC, Lifton RP. WNK4 regulates the balance between renal NaCl reabsorption and K + secretion Nature Genetics. 35: 372-376. PMID 14608358 DOI: 10.1038/Ng1271 |
0.773 |
|
| 2003 |
Finberg KE, Wagner CA, Stehberger PA, Geibel JP, Lifton RP. Molecular cloning and characterization of Atp6v1b1, the murine vacuolar H+-ATPase B1-subunit Gene. 318: 25-34. PMID 14585495 DOI: 10.1016/S0378-1119(03)00790-X |
0.663 |
|
| 2003 |
Laurans MS, DiLuna ML, Shin D, Niazi F, Voorhees JR, Nelson-Williams C, Johnson EW, Siegel AM, Steinberg GK, Berg MJ, Scott RM, Tedeschi G, Enevoldson TP, Anson J, Rouleau GA, ... ... Lifton RP, et al. Mutational analysis of 206 families with cavernous malformations. Journal of Neurosurgery. 99: 38-43. PMID 12854741 DOI: 10.3171/Jns.2003.99.1.0038 |
0.477 |
|
| 2003 |
Dou H, Finberg K, Cardell EL, Lifton R, Choo D. Mice lacking the B1 subunit of H+-ATPase have normal hearing Hearing Research. 180: 76-84. PMID 12782355 DOI: 10.1016/S0378-5955(03)00108-4 |
0.661 |
|
| 2003 |
State MW, Greally JM, Cuker A, Bowers PN, Henegariu O, Morgan TM, Gunel M, DiLuna M, King RA, Nelson C, Donovan A, Anderson GM, Leckman JF, Hawkins T, Pauls DL, ... Lifton RP, et al. Epigenetic abnormalities associated with a chromosome 18(q21-q22) inversion and a Gilles de la Tourette syndrome phenotype. Proceedings of the National Academy of Sciences of the United States of America. 100: 4684-9. PMID 12682296 DOI: 10.1073/Pnas.0730775100 |
0.749 |
|
| 2003 |
Choate KA, Kahle KT, Wilson FH, Nelson-Williams C, Lifton RP. WNK1, a kinase mutated in inherited hypertension with hyperkalemia, localizes to diverse Cl--transporting epithelia Proceedings of the National Academy of Sciences of the United States of America. 100: 663-668. PMID 12522152 DOI: 10.1073/Pnas.242728499 |
0.816 |
|
| 2003 |
Wilson FH, Kahle KT, Sabath E, Lalioti MD, Rapson AK, Hoover RS, Hebert SC, Gamba G, Lifton RP. Molecular pathogenesis of inherited hypertension with hyperkalemia: The Na-Cl cotransporter is inhibited by wild-type but not mutant WNK4 Proceedings of the National Academy of Sciences of the United States of America. 100: 680-684. PMID 12515852 DOI: 10.1073/Pnas.242735399 |
0.787 |
|
| 2002 |
Lifton RP, Wilson FH, Choate KA, Geller DS. Salt and blood pressure: New insight from human genetic studies Cold Spring Harbor Symposia On Quantitative Biology. 67: 445-450. PMID 12858570 DOI: 10.1101/Sqb.2002.67.445 |
0.742 |
|
| 2002 |
Wagner CA, Finberg KE, Stehberger PA, Lifton RP, Giebisch GH, Aronson PS, Geibel JP. Regulation of the expression of the Cl-/anion exchanger pendrin in mouse kidney by acid-base status. Kidney International. 62: 2109-17. PMID 12427135 DOI: 10.1046/J.1523-1755.2002.00671.X |
0.678 |
|
| 2002 |
Mani A, Meraji SM, Houshyar R, Radhakrishnan J, Mani A, Ahangar M, Rezaie TM, Taghavinejad MA, Broumand B, Zhao H, Nelson-Williams C, Lifton RP. Finding genetic contributions to sporadic disease: a recessive locus at 12q24 commonly contributes to patent ductus arteriosus. Proceedings of the National Academy of Sciences of the United States of America. 99: 15054-9. PMID 12409608 DOI: 10.1073/Pnas.192582999 |
0.323 |
|
| 2002 |
Gunel M, Laurans MSH, Shin D, DiLuna ML, Voorhees J, Choate K, Nelson-Williams C, Lifton RP. KRIT1, a gene mutated in cerebral cavernous malformation, encodes a microtubule-associated protein Proceedings of the National Academy of Sciences of the United States of America. 99: 10677-10682. PMID 12140362 DOI: 10.1073/Pnas.122354499 |
0.608 |
|
| 2002 |
Boyden LM, Mao J, Belsky J, Mitzner L, Farhi A, Mitnick MA, Wu D, Insogna K, Lifton RP. High bone density due to a mutation in LDL-receptor-related protein 5. The New England Journal of Medicine. 346: 1513-21. PMID 12015390 DOI: 10.1056/Nejmoa013444 |
0.741 |
|
| 2001 |
Wilson FH, Disse-Nicodème S, Choate KA, Ishikawa K, Nelson-Williams C, Desitter I, Gunel M, Milford DV, Lipkin GW, Achard JM, Feely MP, Dussol B, Berland Y, Unwin RJ, Mayan H, ... ... Lifton RP, et al. Human hypertension caused by mutations in WNK kinases. Science (New York, N.Y.). 293: 1107-12. PMID 11498583 DOI: 10.1126/Science.1062844 |
0.809 |
|
| 2001 |
Smith AN, Finberg KE, Wagner CA, Lifton RP, Devonald MA, Su Y, Karet FE. Molecular cloning and characterization of Atp6n1b: a novel fourth murine vacuolar H+-ATPase a-subunit gene. The Journal of Biological Chemistry. 276: 42382-8. PMID 11495928 DOI: 10.1074/jbc.M107267200 |
0.615 |
|
| 2001 |
Cruz DN, Simon DB, Nelson-Williams C, Farhi A, Finberg K, Burleson L, Gill JR, Lifton RP. Mutations in the Na-Cl cotransporter reduce blood pressure in humans. Hypertension (Dallas, Tex. : 1979). 37: 1458-64. PMID 11408395 DOI: 10.1161/01.Hyp.37.6.1458 |
0.704 |
|
| 2000 |
Levy D, DeStefano AL, Larson MG, O'Donnell CJ, Lifton RP, Gavras H, Cupples LA, Myers RH. Evidence for a gene influencing blood pressure on chromosome 17. Genome scan linkage results for longitudinal blood pressure phenotypes in subjects from the framingham heart study. Hypertension. 36: 477-83. PMID 11040222 DOI: 10.1161/01.Hyp.36.4.477 |
0.327 |
|
| 2000 |
Su IH, Frank R, Gauthier BG, Valderrama E, Simon DB, Lifton RP, Trachtman H. Bartter syndrome and focal segmental glomerulosclerosis: A possible link between two diseases Pediatric Nephrology. 14: 970-972. PMID 10975308 DOI: 10.1007/S004670050054 |
0.335 |
|
| 2000 |
Smith AN, Skaug J, Choate KA, Nayir A, Bakkaloglu A, Ozen S, Hulton SA, Sanjad SA, Al-Sabban EA, Lifton RP, Scherer SW, Karet FE. Mutations in ATP6N1B, encoding a new kidney vacuolar proton pump 116-kD subunit, cause recessive distal renal tubular acidosis with preserved hearing. Nature Genetics. 26: 71-5. PMID 10973252 DOI: 10.1038/79208 |
0.648 |
|
| 2000 |
Geller DS, Farhi A, Pinkerton N, Fradley M, Moritz M, Spitzer A, Meinke G, Tsai FT, Sigler PB, Lifton RP. Activating mineralocorticoid receptor mutation in hypertension exacerbated by pregnancy. Science (New York, N.Y.). 289: 119-23. PMID 10884226 DOI: 10.1126/Science.289.5476.119 |
0.348 |
|
| 1999 |
Karet FE, Finberg KE, Nayir A, Bakkaloglu A, Ozen S, Hulton SA, Sanjad SA, Al-Sabban EA, Medina JF, Lifton RP. Localization of a gene for autosomal recessive distal renal tubular acidosis with normal hearing (rdRTA2) to 7q33-34. American Journal of Human Genetics. 65: 1656-65. PMID 10577919 DOI: 10.1086/302679 |
0.713 |
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| 1999 |
Simon DB, Lu Y, Choate KA, Velazquez H, Al-Sabban E, Praga M, Casari G, Bettinelli A, Colussi G, Rodriguez-Soriano J, McCredie D, Milford D, Sanjad S, Lifton RP. Paracellin-1, a renal tight junction protein required for paracellular Mg2+ resorption. Science (New York, N.Y.). 285: 103-6. PMID 10390358 DOI: 10.1126/Science.285.5424.103 |
0.611 |
|
| 1999 |
Karet FE, Finberg KE, Nelson RD, Nayir A, Mocan H, Sanjad SA, Rodriguez-Soriano J, Santos F, Cremers CW, Di Pietro A, Hoffbrand BI, Winiarski J, Bakkaloglu A, Ozen S, Dusunsel R, ... ... Lifton RP, et al. Mutations in the gene encoding B1 subunit of H+-ATPase cause renal tubular acidosis with sensorineural deafness. Nature Genetics. 21: 84-90. PMID 9916796 DOI: 10.1038/5022 |
0.712 |
|
| 1998 |
Craig HD, Günel M, Cepeda O, Johnson EW, Ptacek L, Steinberg GK, Ogilvy CS, Berg MJ, Crawford SC, Scott RM, Steichen-Gersdorf E, Sabroe R, Kennedy CT, Mettler G, Beis MJ, ... ... Lifton RP, et al. Multilocus linkage identifies two new loci for a mendelian form of stroke, cerebral cavernous malformation, at 7p15-13 and 3q25.2-27. Human Molecular Genetics. 7: 1851-8. PMID 9811928 DOI: 10.1093/Hmg/7.12.1851 |
0.358 |
|
| 1998 |
Simon DB, Lifton RP. Mutations in Na(K)Cl transporters in Gitelman's and Bartter's syndromes. Current Opinion in Cell Biology. 10: 450-4. PMID 9719864 DOI: 10.1016/S0955-0674(98)80057-4 |
0.431 |
|
| 1998 |
Geller DS, Rodriguez-Soriano J, Vallo Boado A, Schifter S, Bayer M, Chang SS, Lifton RP. Mutations in the mineralocorticoid receptor gene cause autosomal dominant pseudohypoaldosteronism type I Nature Genetics. 19: 279-281. PMID 9662404 DOI: 10.1038/966 |
0.491 |
|
| 1998 |
Karet FE, Gainza FJ, Györy AZ, Unwin RJ, Wrong O, Tanner MJ, Nayir A, Alpay H, Santos F, Hulton SA, Bakkaloglu A, Ozen S, Cunningham MJ, di Pietro A, Walker WG, ... Lifton RP, et al. Mutations in the chloride-bicarbonate exchanger gene AE1 cause autosomal dominant but not autosomal recessive distal renal tubular acidosis. Proceedings of the National Academy of Sciences of the United States of America. 95: 6337-42. PMID 9600966 DOI: 10.1073/Pnas.95.11.6337 |
0.498 |
|
| 1998 |
Simon DB, Lifton RP. Ion transporter mutations in Gitelman's and Bartter's syndromes. Current Opinion in Nephrology and Hypertension. 7: 43-7. PMID 9442362 DOI: 10.1097/00041552-199801000-00008 |
0.424 |
|
| 1998 |
Simon DB, Lifton RP. Ion transporter and channel mutations in Bartter's and Gitelman's syndromes of inherited hypokalemic alkalosis Clinical and Experimental Nephrology. 2: 199-203. DOI: 10.1007/Bf02480558 |
0.431 |
|
| 1997 |
Simon DB, Bindra RS, Mansfield TA, Nelson-Williams C, Mendonca E, Stone R, Schurman S, Nayir A, Alpay H, Bakkaloglu A, Rodriguez-Soriano J, Morales JM, Sanjad SA, Taylor CM, Pilz D, ... ... Lifton RP, et al. Mutations in the chloride channel gene, CLCNKB, cause Bartter's syndrome type III. Nature Genetics. 17: 171-8. PMID 9326936 DOI: 10.1038/Ng1097-171 |
0.457 |
|
| 1997 |
Shimkets RA, Lifton RP, Canessa CM. The activity of the epithelial sodium channel is regulated by clathrin-mediated endocytosis. The Journal of Biological Chemistry. 272: 25537-41. PMID 9325269 DOI: 10.1074/Jbc.272.41.25537 |
0.35 |
|
| 1997 |
Yiu VWY, Dluhy RP, Lifton RP, Guay-Woodford LM. Low periperal plasma renin activity as a marker in pediatric hypertension Pediatric Nephrology. 11: 343-346. PMID 9203188 DOI: 10.1007/S004670050292 |
0.319 |
|
| 1997 |
Mansfield TA, Simon DB, Farfel Z, Bia M, Tucci JR, Lebel M, Gutkin M, Vialettes B, Christofilis MA, Kauppinen-Makelin R, Mayan H, Risch N, Lifton RP. Multilocus linkage of familial hyperkalaemia and hypertension, pseudohypoaldosteronism type II, to chromosomes 1q31-42 and 17p11-q21. Nature Genetics. 16: 202-5. PMID 9171836 DOI: 10.1038/Ng0697-202 |
0.333 |
|
| 1997 |
Gründer S, Firsov D, Chang SS, Jaeger NF, Gautschi I, Schild L, Lifton RP, Rossier BC. A mutation causing pseudohypoaldosteronism type 1 identifies a conserved glycine that is involved in the gating of the epithelial sodium channel. The Embo Journal. 16: 899-907. PMID 9118951 DOI: 10.1093/Emboj/16.5.899 |
0.36 |
|
| 1997 |
Findling JW, Raff H, Hansson JH, Lifton RP. Liddle's syndrome: Prospective genetic screening and suppressed aldosterone secretion in an extended kindred Journal of Clinical Endocrinology and Metabolism. 82: 1071-1074. PMID 9100575 DOI: 10.1210/Jcem.82.4.3862 |
0.434 |
|
| 1997 |
Simon DB, Lifton RP. The molecular basis of inherited hypokalemic alkalosis: Bartter's and Gitelman's syndromes. The American Journal of Physiology. 271: F961-6. PMID 8945989 DOI: 10.1152/Ajprenal.1996.271.5.F961 |
0.484 |
|
| 1996 |
Simon DB, Karet FE, Rodriguez-Soriano J, Hamdan JH, DiPietro A, Trachtman H, Sanjad SA, Lifton RP. Genetic heterogeneity of Bartter's syndrome revealed by mutations in the K+ channel, ROMK. Nature Genetics. 14: 152-6. PMID 8841184 DOI: 10.1038/Ng1096-152 |
0.441 |
|
| 1996 |
Shimkets RA, Lifton RP. Recent advances in the molecular genetics of hypertension. Current Opinion in Nephrology and Hypertension. 5: 162-5. PMID 8744539 DOI: 10.1097/00041552-199603000-00011 |
0.433 |
|
| 1996 |
Günel M, Awad IA, Finberg K, Steinberg GK, Craig HD, Cepeda O, Nelson-Williams C, Lifton RP. Genetic heterogeneity of inherited cerebral cavernous malformation. Neurosurgery. 38: 1265-71. PMID 8727164 DOI: 10.1097/00006123-199606000-00059 |
0.704 |
|
| 1996 |
Simon DB, Karet FE, Hamdan JM, DiPietro A, Sanjad SA, Lifton RP. Bartter's syndrome, hypokalaemic alkalosis with hypercalciuria, is caused by mutations in the Na-K-2Cl cotransporter NKCC2. Nature Genetics. 13: 183-8. PMID 8640224 DOI: 10.1038/Ng0696-183 |
0.446 |
|
| 1996 |
Lifton RP. Molecular genetics of human blood pressure variation. Science (New York, N.Y.). 272: 676-80. PMID 8614826 DOI: 10.1126/Science.272.5262.676 |
0.395 |
|
| 1996 |
Gunel M, Awad IA, Finberg K, Anson JA, Steinberg GK, Batjer HH, Kopitnik TA, Morrison L, Giannotta SL, Nelson-Williams C, Lifton RP. A founder mutation as a cause of cerebral cavernous malformation in Hispanic Americans. The New England Journal of Medicine. 334: 946-51. PMID 8596595 DOI: 10.1056/Nejm199604113341503 |
0.698 |
|
| 1996 |
Chang SS, Grunder S, Hanukoglu A, Rösler A, Mathew PM, Hanukoglu I, Schild L, Lu Y, Shimkets RA, Nelson-Williams C, Rossier BC, Lifton RP. Mutations in subunits of the epithelial sodium channel cause salt wasting with hyperkalaemic acidosis, pseudohypoaldosteronism type 1. Nature Genetics. 12: 248-53. PMID 8589714 DOI: 10.1038/Ng0396-248 |
0.428 |
|
| 1996 |
Simon DB, Nelson-Williams C, Bia MJ, Ellison D, Karet FE, Molina AM, Vaara I, Iwata F, Cushner HM, Koolen M, Gainza FJ, Gitelman HJ, Lifton RP. Gitelman's variant of Bartter's syndrome, inherited hypokalaemic alkalosis, is caused by mutations in the thiazide-sensitive Na-Cl cotransporter Nature Genetics. 12: 24-30. PMID 8528245 DOI: 10.1038/Ng0196-24 |
0.42 |
|
| 1996 |
Hansson JH, Schild L, Lu Y, Wilson TA, Gautschi I, Shimkets R, Nelson-Williams C, Rossier BC, Lifton RP. A de novo missense mutation of the beta subunit of the epithelial sodium channel causes hypertension and Liddle syndrome, identifying a proline-rich segment critical for regulation of channel activity. Proceedings of the National Academy of Sciences of the United States of America. 92: 11495-9. PMID 8524790 DOI: 10.1073/Pnas.92.25.11495 |
0.414 |
|
| 1995 |
Shimkets RA, Warnock DG, Bositis CM, Nelson-Willia C, Hansson JH, Schambelan M, Gill JR, Ulick S, Milora RV, Findling JW, Canessa CM, Rossier BC, Lifton RP, Corvol P. Liddle’s syndrome: Heritable human hypertension caused by mutations in the ß subnit of the epithelial sodium channel Journal of Endocrinological Investigation. 18: 592-594. PMID 9221280 DOI: 10.1007/Bf03349775 |
0.409 |
|
| 1995 |
Dluhy RG, Lifton RP. Glucocorticoid-remediable aldosteronism (GRA): diagnosis, variability of phenotype and regulation of potassium homeostasis. Steroids. 60: 48-51. PMID 7792815 DOI: 10.1016/0039-128X(94)00010-A |
0.354 |
|
| 1995 |
Schild L, Canessa CM, Shimkets RA, Gautschi I, Lifton RP, Rossier BC. A mutation in the epithelial sodium channel causing Liddle disease increases channel activity in the Xenopus laevis oocyte expression system. Proceedings of the National Academy of Sciences of the United States of America. 92: 5699-703. PMID 7777572 DOI: 10.1073/Pnas.92.12.5699 |
0.344 |
|
| 1995 |
Inoue I, Rohrwasser A, Helin C, Jeunemaitre X, Crain P, Bohlender J, Lifton RP, Corvol P, Ward K, Lalouel JM. A mutation of angiotensinogen in a patient with preeclampsia leads to altered kinetics of the renin-angiotensin system. The Journal of Biological Chemistry. 270: 11430-6. PMID 7744780 DOI: 10.1074/Jbc.270.19.11430 |
0.377 |
|
| 1995 |
Günel M, Awad IA, Anson J, Lifton RP. Mapping a gene causing cerebral cavernous malformation to 7q11.2-q21. Proceedings of the National Academy of Sciences of the United States of America. 92: 6620-4. PMID 7604043 DOI: 10.1073/Pnas.92.14.6620 |
0.328 |
|
| 1995 |
Lifton RP. Genetic determinants of human hypertension. Proceedings of the National Academy of Sciences of the United States of America. 92: 8545-51. PMID 7567973 DOI: 10.1073/Pnas.92.19.8545 |
0.426 |
|
| 1995 |
Hansson JH, Nelson-Williams C, Suzuki H, Schild L, Shimkets R, Lu Y, Canessa C, Iwasaki T, Rossier B, Lifton RP. Hypertension caused by a truncated epithelial sodium channel gamma subunit: genetic heterogeneity of Liddle syndrome. Nature Genetics. 11: 76-82. PMID 7550319 DOI: 10.1038/Ng0995-76 |
0.39 |
|
| 1994 |
Shimkets RA, Warnock DG, Bositis CM, Nelson-Williams C, Hansson JH, Schambelan M, Gill JR, Ulick S, Milora RV, Findling JW, Canessa CM, Rossier BC, Lifton RP. Liddle's syndrome: Heritable human hypertension caused by mutations in the β subunit of the epithelial sodium channel Cell. 79: 407-414. PMID 7954808 DOI: 10.1016/0092-8674(94)90250-X |
0.402 |
|
| 1992 |
Lifton RP, Dluhy RG, Powers M, Rich GM, Cook S, Ulick S, Lalouel JM. A chimaeric 11 beta-hydroxylase/aldosterone synthase gene causes glucocorticoid-remediable aldosteronism and human hypertension. Nature. 355: 262-5. PMID 1731223 DOI: 10.1038/355262A0 |
0.403 |
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