Richard P. Lifton - Publications

Affiliations: 
Harvard Medical School, Boston, MA, United States 
 1993- Yale University, New Haven, CT 
Area:
Genetics, Human Development, Pathology

195 high-probability publications. We are testing a new system for linking publications to authors. You can help! If you notice any innacuracies, please sign in and mark papers as correct or incorrect matches. If you identify any major omissions or other inaccuracies in the publication list, please let us know.

Year Citation  Score
2019 Ünlüsoy Aksu A, Das SK, Nelson-Williams C, Jain D, Özbay Hoşnut F, Evirgen Şahin G, Lifton RP, Vilarinho S. Recessive Mutations in Cause High Gamma-Glutamyltransferase Cholestasis. Hepatology Communications. 3: 471-477. PMID 30976738 DOI: 10.1002/hep4.1320  0.72
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  0.84
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  0.72
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  0.72
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  0.84
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  0.4
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  0.84
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  0.36
2018 Nicolson NG, Murtha TD, Dong W, Paulsson JO, Choi J, Barbieri AL, Brown TC, Kunstman JW, Larsson C, Prasad ML, Korah R, Lifton RP, Juhlin CC, Carling T. Comprehensive Genetic Analysis of Follicular Thyroid Carcinoma Predicts Prognosis Independent of Histology. The Journal of Clinical Endocrinology and Metabolism. PMID 29726952 DOI: 10.1210/jc.2018-00277  0.4
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  0.72
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  0.72
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  0.32
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  0.32
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  0.4
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  0.84
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  0.36
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  0.72
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  0.4
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  0.48
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  0.84
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  0.4
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  0.72
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  0.72
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  0.4
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  0.72
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  0.36
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  0.72
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: 10.1073/pnas.1525735113  0.84
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  0.32
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: 10.1182/blood-2015-06-654277  0.36
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  0.84
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  0.84
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  0.36
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  0.36
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  0.36
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  0.84
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  0.84
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  0.36
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  0.84
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  0.84
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  0.84
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  0.84
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  0.84
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  0.84
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  0.72
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  0.84
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  0.84
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  0.84
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  0.84
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  0.84
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  0.36
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  0.84
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  0.84
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  0.84
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  0.84
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  0.84
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  0.84
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  0.84
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  0.84
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  0.84
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  0.84
2014 Shankaran S, Lin A, Maller-Kesselman J, Zhang H, O'Shea TM, Bada HS, Kaiser JR, Lifton RP, Bauer CR, Ment LR. Maternal race, demography, and health care disparities impact risk for intraventricular hemorrhage in preterm neonates. The Journal of Pediatrics. 164: 1005-1011.e3. PMID 24589078 DOI: 10.1016/j.jpeds.2014.01.036  0.84
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  0.84
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  0.84
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  0.84
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  0.84
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  0.4
2013 Shibata S, Rinehart J, Zhang J, Moeckel G, Castañeda-Bueno M, Stiegler AL, Boggon TJ, Gamba G, Lifton RP. Mineralocorticoid receptor phosphorylation regulates ligand binding and renal response to volume depletion and hyperkalemia. Cell Metabolism. 18: 660-71. PMID 24206662 DOI: 10.1016/j.cmet.2013.10.005  0.84
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  0.84
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  0.84
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  0.84
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  0.84
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  0.84
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  0.84
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  0.84
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  0.84
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  0.84
2013 Clark VE, Erson-Omay EZ, Serin A, Yin J, Cotney J, Ozduman K, AvÅŸar 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  0.84
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  0.84
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  0.84
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  0.84
2012 Vilarinho S, Lifton RP. Liver transplantation: from inception to clinical practice. Cell. 150: 1096-9. PMID 22980971 DOI: 10.1016/j.cell.2012.08.030  0.84
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  0.84
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  0.84
2012 Ã…kerström 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  0.84
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  0.84
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  0.84
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  0.84
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  0.84
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  0.84
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  0.84
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  0.84
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  0.84
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  0.84
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  0.84
2012 Liu W, Singh R, Choi CS, Lee HY, Keramati AR, Samuel VT, Lifton RP, Shulman GI, Mani A. Low density lipoprotein (LDL) receptor-related protein 6 (LRP6) regulates body fat and glucose homeostasis by modulating nutrient sensing pathways and mitochondrial energy expenditure. The Journal of Biological Chemistry. 287: 7213-23. PMID 22232553 DOI: 10.1074/jbc.M111.286724  0.84
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  0.84
2011 Yasuno K, BakırcıoÄŸlu 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  0.84
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  0.84
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  0.84
2011 Starker LF, Svedlund J, Udelsman R, Dralle H, Akerström G, Westin G, Lifton RP, Björklund P, Carling T. The DNA methylome of benign and malignant parathyroid tumors. Genes, Chromosomes & Cancer. 50: 735-45. PMID 21638518 DOI: 10.1002/gcc.20895  0.84
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  0.84
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  0.84
2011 Zhang L, Jouret F, Rinehart J, Sfakianos J, Mellman I, Lifton RP, Young LH, Caplan MJ. AMP-activated protein kinase (AMPK) activation and glycogen synthase kinase-3β (GSK-3β) inhibition induce Ca2+-independent deposition of tight junction components at the plasma membrane. The Journal of Biological Chemistry. 286: 16879-90. PMID 21383016 DOI: 10.1074/jbc.M110.186932  0.84
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  0.84
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  0.32
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  0.84
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  0.84
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  0.84
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  0.84
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  0.84
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  0.84
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  0.84
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  0.84
2010 Leu M, Humphreys K, Surakka I, Rehnberg E, Muilu J, Rosenström P, Almgren P, Jääskeläinen J, Lifton RP, Kyvik KO, Kaprio J, Pedersen NL, Palotie A, Hall P, Grönberg H, et al. NordicDB: a Nordic pool and portal for genome-wide control data. European Journal of Human Genetics : Ejhg. 18: 1322-6. PMID 20664631 DOI: 10.1038/ejhg.2010.112  0.84
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  0.84
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  0.84
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  0.84
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  0.84
2010 Lifton RP. Individual genomes on the horizon. The New England Journal of Medicine. 362: 1235-6. PMID 20220178 DOI: 10.1056/NEJMe1001090  0.84
2010 Rinehart J, Gulcicek EE, Joiner CH, Lifton RP, Gallagher PG. Determinants of erythrocyte hydration. Current Opinion in Hematology. 17: 191-7. PMID 20182354 DOI: 10.1097/MOH.0b013e32833800d0  0.84
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  0.84
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  0.36
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  0.84
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  0.84
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  0.84
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  0.84
2009 Rinehart J, Maksimova YD, Tanis JE, Stone KL, Hodson CA, Zhang J, Risinger M, Pan W, Wu D, Colangelo CM, Forbush B, Joiner CH, Gulcicek EE, Gallagher PG, Lifton RP. Sites of regulated phosphorylation that control K-Cl cotransporter activity. Cell. 138: 525-36. PMID 19665974 DOI: 10.1016/j.cell.2009.05.031  0.84
2009 Papeta N, Chan KT, Prakash S, Martino J, Kiryluk K, Ballard D, Bruggeman LA, Frankel R, Zheng Z, Klotman PE, Zhao H, D'Agati VD, Lifton RP, Gharavi AG. Susceptibility loci for murine HIV-associated nephropathy encode trans-regulators of podocyte gene expression. The Journal of Clinical Investigation. 119: 1178-88. PMID 19381020 DOI: 10.1172/JCI37131  0.84
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  0.84
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  0.84
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  0.84
2009 Chan KT, Papeta N, Martino J, Zheng Z, Frankel RZ, Klotman PE, D'Agati VD, Lifton RP, Gharavi AG. Accelerated development of collapsing glomerulopathy in mice congenic for the HIVAN1 locus. Kidney International. 75: 366-72. PMID 19092797 DOI: 10.1038/ki.2008.625  0.84
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  0.84
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  0.84
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  0.84
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  0.84
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  0.84
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  0.32
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  0.84
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  0.84
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  0.84
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  0.84
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  0.84
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  0.84
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  0.84
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  0.84
2007 Lifton RP. Lasker Award to Heart Valve Pioneers Cell. 130: 971-974. PMID 17889638 DOI: 10.1016/j.cell.2007.08.042  0.84
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  0.84
2007 Morgan TM, Krumholz HM, Lifton RP, Spertus JA. Nonvalidation of reported genetic risk factors for acute coronary syndrome in a large-scale replication study Journal of the American Medical Association. 297: 1551-1561. PMID 17426274 DOI: 10.1001/jama.297.14.1551  0.84
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  0.84
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  0.84
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  0.84
2007 Karnib HH, Sanna-Cherchi S, Zalloua PA, Medawar W, D'Agati VD, Lifton RP, Badr K, Gharavi AG. Characterization of a large Lebanese family segregating IgA nephropathy Nephrology Dialysis Transplantation. 22: 772-777. PMID 17172253 DOI: 10.1093/ndt/gfl677  0.84
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  0.84
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  0.84
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  0.84
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  0.84
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  0.84
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  0.84
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  0.84
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  0.84
2006 Bonnen PE, Pe'er I, Plenge RM, Salit J, Lowe JK, Shapero MH, Lifton RP, Breslow JL, Daly MJ, Reich DE, Jones KW, Stoffel M, Altshuler D, Friedman JM. Evaluating potential for whole-genome studies in Kosrae, an isolated population in Micronesia. Nature Genetics. 38: 214-7. PMID 16429162 DOI: 10.1038/ng1712  0.84
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  0.84
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  0.84
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  0.84
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  0.84
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  0.84
2005 Kathiresan S, Larson MG, Benjamin EJ, Corey D, Murabito JM, Fox CS, Wilson PWF, Rifai N, Meigs JB, Ricken G, Lifton RP, Levy D, Vasan RS. Clinical and genetic correlates of serum aldosterone in the community: The framingham heart study American Journal of Hypertension. 18: 657-665. PMID 15882548 DOI: 10.1016/j.amjhyper.2004.12.005  0.84
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  0.84
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  0.84
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  0.84
2004 Lifton RP. Genetic dissection of human blood pressure variation: common pathways from rare phenotypes Harvey Lectures.. 100: 71-101. PMID 16970175  0.84
2004 Frascá GM, Soverini L, Gharavi AG, Lifton RP, Canova C, Preda P, Vangelista A, Stefoni S. Thin basement membrane disease in patients with familial IgA nephropathy Journal of Nephrology. 17: 778-785. PMID 15593051  0.84
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  0.84
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  0.84
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  0.84
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  0.84
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  0.84
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  0.84
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  0.84
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  0.84
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  0.84
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  0.84
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  0.84
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  0.84
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  0.84
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  0.84
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  0.32
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  0.84
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  0.36
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  0.84
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  0.84
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  0.84
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  0.36
Show low-probability matches.