| Year |
Citation |
Score |
| 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, ... ... Mane SM, 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 |
0.32 |
|
| 2017 |
Besse W, Choi J, Ahram D, Mane S, Sanna-Cherchi S, Torres V, Somlo S. A non-coding variant in GANAB explains isolated polycystic liver disease (PCLD) in a large family. Human Mutation. PMID 29243290 DOI: 10.1002/Humu.23383 |
0.311 |
|
| 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, ... ... Mane SM, 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 |
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, ... ... Mane S, et al. Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly. Nature Genetics. PMID 28805828 DOI: 10.1038/Ng.3933 |
0.307 |
|
| 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 |
0.305 |
|
| 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 |
0.325 |
|
| 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, ... ... Mane S, 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 |
0.312 |
|
| 2016 |
Çağlayan AO, Tüysüz B, Coşkun S, Quon J, Harmancı AS, Baranoski JF, Baran B, Erson-Omay EZ, Henegariu O, Mane SM, Bilgüvar K, Yasuno K, Günel M. A patient with a novel homozygous missense mutation in FTO and concomitant nonsense mutation in CETP. Journal of Human Genetics. PMID 26740239 DOI: 10.1038/Jhg.2015.160 |
0.305 |
|
| 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, ... ... Mane S, 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 |
0.305 |
|
| 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, ... ... Mane S, 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 |
0.302 |
|
| 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, 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 |
0.361 |
|
| 2014 |
Iossifov I, O'Roak BJ, Sanders SJ, Ronemus M, Krumm N, Levy D, Stessman HA, Witherspoon KT, Vives L, Patterson KE, Smith JD, Paeper B, Nickerson DA, Dea J, Dong S, ... ... Mane SM, et al. The contribution of de novo coding mutations to autism spectrum disorder. Nature. 515: 216-21. PMID 25363768 DOI: 10.1038/Nature13908 |
0.31 |
|
| 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, ... ... Mane SM, et al. De novo mutations in histone-modifying genes in congenital heart disease. Nature. 498: 220-3. PMID 23665959 DOI: 10.1038/Nature12141 |
0.321 |
|
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