Publications of The Presidents of The Rockefeller University

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1. 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, Anikster Y, Hildebrandt F   Exome sequencing in Jewish and Arab patients with rhabdomyolysis reveals single-gene etiology in 43% of cases   PEDIATRIC NEPHROLOGY 2017 DEC; 32(12):2273-2282 Full Text | PubMed

2. 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, Vega-Warner V, Vukojevic K, Pediaditakis I, Makar GS, Mitrotti A, Verbitsky M, Martino J, Liu QX, Na YJ, Goj V   Exome-wide Association Study Identifies GREB1L Mutations in Congenital Kidney Malformations   AMERICAN JOURNAL OF HUMAN GENETICS 2017 NOV 2; 101(5):789-802 Full Text | PubMed

3. Jin SC, Homsy J, Zaidi S, Lu QS, Morton S, DePalma SR, Zeng X, Qi HJ, Chang WI, Sierant MC, Hung WC, Haider S, Zhang JH, Knight J, Bjornson RD, Castaldi C, Tikhonoa IR, Bilguvar K, Mane SM, Sanders SJ, Mital S, Russell MW, Gaynor JW, Deanfield J, Giardini A   Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands   NATURE GENETICS 2017 NOV; 49(11):1593-1601 Full Text | PubMed

4. Braun DA, Rao J, Mollet G, Schapiro D, Daugeron MC, Tan WZ, Gribouval O, Boyer O, Revy P, Jobst-Schwan T, Schmidt JM, Lawson JA, Schanze D, Ashraf S, Ullmann JFP, Hoogstraten CA, Boddaert N, Collinet B, Martin G, Liger D, Lovric S, Furlano M, Guerrera IC, Sanchez-Ferras O, Hu JF   Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly   NATURE GENETICS 2017 OCT; 49(10):1529-1538 Full Text | PubMed

5. 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, Watnick T, Pei YP, Torres VE, Somlo S   Isolated polycystic liver disease genes define effectors of polycystin-1 function (vol 127, pg 1772, 2017)   JOURNAL OF CLINICAL INVESTIGATION 2017 SEP 1; 127(9):3558-3558 Full Text | PubMed

6. 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, Sanna-Cherchi S, Gharavi AG, Lu WN, Magen D, Shukrun R, Lifton RP, Tasic V, Stanescu HC, Cavailles V, Kleta R   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 2017 AUG; 28(8):2364-2376 Full Text | PubMed

7. 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 2017 AUG 29; 114(35):E7341-E7347 Full Text | PubMed

8. 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, Vahidnezhad H, Youssefian L, Uitto J, Lifton RP, Paller AS, Milstone LM, Choate KA   Phenotypic spectrum of autosomal recessive congenital ichthyosis due to PNPLA1 mutation   BRITISH JOURNAL OF DERMATOLOGY 2017 JUL; 177(1):319-322 Full Text | PubMed

9. Scholl UI, Abriola L, Zhang CB, Reimer EN, Plummer M, Kazmierczak BI, Zhang JH, Hoyer D, Merkel JS, Wang WH, Lifton RP   Macrolides selectively inhibit mutant KCNJ5 potassium channels that cause aldosterone-producing adenoma   JOURNAL OF CLINICAL INVESTIGATION 2017 JUN 30; 127(7):2739-2750 Full Text | PubMed

10. Boyden LM, Vincent NG, Zhou J, Hu RH, 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 2017 JUN 1; 100(6):978-984 Full Text | PubMed

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