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Items: 41

1.

Pain correlates with germline mutation in schwannomatosis.

Jordan JT, Smith MJ, Walker JA, Erdin S, Talkowski ME, Merker VL, Ramesh V, Cai W, Harris GJ, Bredella MA, Seijo M, Suuberg A, Gusella JF, Plotkin SR.

Medicine (Baltimore). 2018 Feb;97(5):e9717. doi: 10.1097/MD.0000000000009717.

2.

WNT/β-Catenin Pathway and Epigenetic Mechanisms Regulate the Pitt-Hopkins Syndrome and Schizophrenia Risk Gene TCF4.

Hennig KM, Fass DM, Zhao WN, Sheridan SD, Fu T, Erdin S, Stortchevoi A, Lucente D, Cody JD, Sweetser D, Gusella JF, Talkowski ME, Haggarty SJ.

Mol Neuropsychiatry. 2017 Jul;3(1):53-71. doi: 10.1159/000475666. Epub 2017 Jul 14.

PMID:
28879201
3.

A novel microduplication of ARID1B: Clinical, genetic, and proteomic findings.

Seabra CM, Szoko N, Erdin S, Ragavendran A, Stortchevoi A, Maciel P, Lundberg K, Schlatzer D, Smith J, Talkowski ME, Gusella JF, Natowicz MR.

Am J Med Genet A. 2017 Sep;173(9):2478-2484. doi: 10.1002/ajmg.a.38327. Epub 2017 Jul 10.

PMID:
28691782
4.

Corrigendum: SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome.

Shaw ND, Brand H, Kupchinsky ZA, Bengani H, Plummer L, Jones TI, Erdin S, Williamson KA, Rainger J, Stortchevoi A, Samocha K, Currall BB, Dunican DS, Collins RL, Willer JR, Lek A, Lek M, Nassan M, Pereira S, Kammin T, Lucente D, Silva A, Seabra CM, Chiang C, An Y, Ansari M, Rainger JK, Joss S, Smith JC, Lippincott MF, Singh SS, Patel N, Jing JW, Law JR, Ferraro N, Verloes A, Rauch A, Steindl K, Zweier M, Scheer I, Sato D, Okamoto N, Jacobsen C, Tryggestad J, Chernausek S, Schimmenti LA, Brasseur B, Cesaretti C, García-Ortiz JE, Buitrago TP, Silva OP, Hoffman JD, Mühlbauer W, Ruprecht KW, Loeys BL, Shino M, Kaindl AM, Cho CH, Morton CC, Meehan RR, van Heyningen V, Liao EC, Balasubramanian R, Hall JE, Seminara SB, Macarthur D, Moore SA, Yoshiura KI, Gusella JF, Marsh JA, Graham JM Jr, Lin AE, Katsanis N, Jones PL, Crowley WF Jr, Davis EE, FitzPatrick DR, Talkowski ME.

Nat Genet. 2017 May 26;49(6):969. doi: 10.1038/ng0617-969c. No abstract available.

PMID:
28546579
5.

Analysis of the association of chronic spontaneous urticaria with interlekin-4, -10, transforming growth factor-β1, interferon-γ, interleukin-17A and -23 by autologous serum skin test.

Degirmenci PB, Kırmaz C, Vatansever S, Onur E, Nal E, Erdin S, Ozyurt B.

Postepy Dermatol Alergol. 2017 Feb;34(1):70-76. doi: 10.5114/pdia.2016.57679. Epub 2017 Feb 7.

6.

Potential molecular consequences of transgene integration: The R6/2 mouse example.

Jacobsen JC, Erdin S, Chiang C, Hanscom C, Handley RR, Barker DD, Stortchevoi A, Blumenthal I, Reid SJ, Snell RG, MacDonald ME, Morton AJ, Ernst C, Gusella JF, Talkowski ME.

Sci Rep. 2017 Jan 25;7:41120. doi: 10.1038/srep41120.

7.

SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome.

Shaw ND, Brand H, Kupchinsky ZA, Bengani H, Plummer L, Jones TI, Erdin S, Williamson KA, Rainger J, Stortchevoi A, Samocha K, Currall BB, Dunican DS, Collins RL, Willer JR, Lek A, Lek M, Nassan M, Pereira S, Kammin T, Lucente D, Silva A, Seabra CM, Chiang C, An Y, Ansari M, Rainger JK, Joss S, Smith JC, Lippincott MF, Singh SS, Patel N, Jing JW, Law JR, Ferraro N, Verloes A, Rauch A, Steindl K, Zweier M, Scheer I, Sato D, Okamoto N, Jacobsen C, Tryggestad J, Chernausek S, Schimmenti LA, Brasseur B, Cesaretti C, García-Ortiz JE, Buitrago TP, Silva OP, Hoffman JD, Mühlbauer W, Ruprecht KW, Loeys BL, Shino M, Kaindl AM, Cho CH, Morton CC, Meehan RR, van Heyningen V, Liao EC, Balasubramanian R, Hall JE, Seminara SB, Macarthur D, Moore SA, Yoshiura KI, Gusella JF, Marsh JA, Graham JM Jr, Lin AE, Katsanis N, Jones PL, Crowley WF Jr, Davis EE, FitzPatrick DR, Talkowski ME.

Nat Genet. 2017 Feb;49(2):238-248. doi: 10.1038/ng.3743. Epub 2017 Jan 9. Erratum in: Nat Genet. 2017 May 26;49(6):969.

8.

Recurrent De Novo and Biallelic Variation of ATAD3A, Encoding a Mitochondrial Membrane Protein, Results in Distinct Neurological Syndromes.

Harel T, Yoon WH, Garone C, Gu S, Coban-Akdemir Z, Eldomery MK, Posey JE, Jhangiani SN, Rosenfeld JA, Cho MT, Fox S, Withers M, Brooks SM, Chiang T, Duraine L, Erdin S, Yuan B, Shao Y, Moussallem E, Lamperti C, Donati MA, Smith JD, McLaughlin HM, Eng CM, Walkiewicz M, Xia F, Pippucci T, Magini P, Seri M, Zeviani M, Hirano M, Hunter JV, Srour M, Zanigni S, Lewis RA, Muzny DM, Lotze TE, Boerwinkle E; Baylor-Hopkins Center for Mendelian Genomics; University of Washington Center for Mendelian Genomics, Gibbs RA, Hickey SE, Graham BH, Yang Y, Buhas D, Martin DM, Potocki L, Graziano C, Bellen HJ, Lupski JR.

Am J Hum Genet. 2016 Oct 6;99(4):831-845. doi: 10.1016/j.ajhg.2016.08.007. Epub 2016 Sep 15.

9.

Engineering microdeletions and microduplications by targeting segmental duplications with CRISPR.

Tai DJ, Ragavendran A, Manavalan P, Stortchevoi A, Seabra CM, Erdin S, Collins RL, Blumenthal I, Chen X, Shen Y, Sahin M, Zhang C, Lee C, Gusella JF, Talkowski ME.

Nat Neurosci. 2016 Mar;19(3):517-22. doi: 10.1038/nn.4235. Epub 2016 Feb 1.

10.

Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease.

Karaca E, Harel T, Pehlivan D, Jhangiani SN, Gambin T, Coban Akdemir Z, Gonzaga-Jauregui C, Erdin S, Bayram Y, Campbell IM, Hunter JV, Atik MM, Van Esch H, Yuan B, Wiszniewski W, Isikay S, Yesil G, Yuregir OO, Tug Bozdogan S, Aslan H, Aydin H, Tos T, Aksoy A, De Vivo DC, Jain P, Geckinli BB, Sezer O, Gul D, Durmaz B, Cogulu O, Ozkinay F, Topcu V, Candan S, Cebi AH, Ikbal M, Yilmaz Gulec E, Gezdirici A, Koparir E, Ekici F, Coskun S, Cicek S, Karaer K, Koparir A, Duz MB, Kirat E, Fenercioglu E, Ulucan H, Seven M, Guran T, Elcioglu N, Yildirim MS, Aktas D, Alikaşifoğlu M, Ture M, Yakut T, Overton JD, Yuksel A, Ozen M, Muzny DM, Adams DR, Boerwinkle E, Chung WK, Gibbs RA, Lupski JR.

Neuron. 2015 Nov 4;88(3):499-513. doi: 10.1016/j.neuron.2015.09.048.

11.

Rare variants in the notch signaling pathway describe a novel type of autosomal recessive Klippel-Feil syndrome.

Karaca E, Yuregir OO, Bozdogan ST, Aslan H, Pehlivan D, Jhangiani SN, Akdemir ZC, Gambin T, Bayram Y, Atik MM, Erdin S, Muzny D, Gibbs RA, Lupski JR; Baylor-Hopkins Center for Mendelian Genomics.

Am J Med Genet A. 2015 Nov;167A(11):2795-9. doi: 10.1002/ajmg.a.37263. Epub 2015 Aug 4.

12.

Htt CAG repeat expansion confers pleiotropic gains of mutant huntingtin function in chromatin regulation.

Biagioli M, Ferrari F, Mendenhall EM, Zhang Y, Erdin S, Vijayvargia R, Vallabh SM, Solomos N, Manavalan P, Ragavendran A, Ozsolak F, Lee JM, Talkowski ME, Gusella JF, Macdonald ME, Park PJ, Seong IS.

Hum Mol Genet. 2015 May 1;24(9):2442-57. doi: 10.1093/hmg/ddv006. Epub 2015 Jan 8.

13.

Whole-exome sequencing identifies homozygous GPR161 mutation in a family with pituitary stalk interruption syndrome.

Karaca E, Buyukkaya R, Pehlivan D, Charng WL, Yaykasli KO, Bayram Y, Gambin T, Withers M, Atik MM, Arslanoglu I, Bolu S, Erdin S, Buyukkaya A, Yaykasli E, Jhangiani SN, Muzny DM, Gibbs RA, Lupski JR.

J Clin Endocrinol Metab. 2015 Jan;100(1):E140-7. doi: 10.1210/jc.2014-1984.

14.

CHD8 regulates neurodevelopmental pathways associated with autism spectrum disorder in neural progenitors.

Sugathan A, Biagioli M, Golzio C, Erdin S, Blumenthal I, Manavalan P, Ragavendran A, Brand H, Lucente D, Miles J, Sheridan SD, Stortchevoi A, Kellis M, Haggarty SJ, Katsanis N, Gusella JF, Talkowski ME.

Proc Natl Acad Sci U S A. 2014 Oct 21;111(42):E4468-77. doi: 10.1073/pnas.1405266111. Epub 2014 Oct 7.

15.

Oxidative stress in schizophrenia: a case-control study on the effects on social cognition and neurocognition.

Gonzalez-Liencres C, Tas C, Brown EC, Erdin S, Onur E, Cubukcoglu Z, Aydemir O, Esen-Danaci A, Brüne M.

BMC Psychiatry. 2014 Sep 24;14:268. doi: 10.1186/s12888-014-0268-x.

16.

Whole exome sequencing identifies three novel mutations in ANTXR1 in families with GAPO syndrome.

Bayram Y, Pehlivan D, Karaca E, Gambin T, Jhangiani SN, Erdin S, Gonzaga-Jauregui C, Wiszniewski W, Muzny D; Baylor-Hopkins Center for Mendelian Genomics, Elcioglu NH, Yildirim MS, Bozkurt B, Zamani AG, Boerwinkle E, Gibbs RA, Lupski JR.

Am J Med Genet A. 2014 Sep;164A(9):2328-34. doi: 10.1002/ajmg.a.36678. Epub 2014 Jul 14.

17.

Low incidence of off-target mutations in individual CRISPR-Cas9 and TALEN targeted human stem cell clones detected by whole-genome sequencing.

Veres A, Gosis BS, Ding Q, Collins R, Ragavendran A, Brand H, Erdin S, Cowan CA, Talkowski ME, Musunuru K.

Cell Stem Cell. 2014 Jul 3;15(1):27-30. doi: 10.1016/j.stem.2014.04.020. Erratum in: Cell Stem Cell. 2014 Aug 7;15(2):254. Cowan, Chad A [added].

18.

Transcriptional consequences of 16p11.2 deletion and duplication in mouse cortex and multiplex autism families.

Blumenthal I, Ragavendran A, Erdin S, Klei L, Sugathan A, Guide JR, Manavalan P, Zhou JQ, Wheeler VC, Levin JZ, Ernst C, Roeder K, Devlin B, Gusella JF, Talkowski ME.

Am J Hum Genet. 2014 Jun 5;94(6):870-83. doi: 10.1016/j.ajhg.2014.05.004.

19.

Oxidative stress markers, cognitive functions, and psychosocial functioning in bipolar disorder: an empirical cross-sectional study.

Aydemir Ö, Çubukçuoğlu Z, Erdin S, Taş C, Onur E, Berk M.

Rev Bras Psiquiatr. 2014 Oct-Dec;36(4):293-7. doi: 10.1590/1516-4446-2013-1299. Epub 2014 Apr 25.

20.

Human CLP1 mutations alter tRNA biogenesis, affecting both peripheral and central nervous system function.

Karaca E, Weitzer S, Pehlivan D, Shiraishi H, Gogakos T, Hanada T, Jhangiani SN, Wiszniewski W, Withers M, Campbell IM, Erdin S, Isikay S, Franco LM, Gonzaga-Jauregui C, Gambin T, Gelowani V, Hunter JV, Yesil G, Koparir E, Yilmaz S, Brown M, Briskin D, Hafner M, Morozov P, Farazi TA, Bernreuther C, Glatzel M, Trattnig S, Friske J, Kronnerwetter C, Bainbridge MN, Gezdirici A, Seven M, Muzny DM, Boerwinkle E, Ozen M; Baylor Hopkins Center for Mendelian Genomics, Clausen T, Tuschl T, Yuksel A, Hess A, Gibbs RA, Martinez J, Penninger JM, Lupski JR.

Cell. 2014 Apr 24;157(3):636-50. doi: 10.1016/j.cell.2014.02.058.

21.

Prediction and experimental validation of enzyme substrate specificity in protein structures.

Amin SR, Erdin S, Ward RM, Lua RC, Lichtarge O.

Proc Natl Acad Sci U S A. 2013 Nov 5;110(45):E4195-202. doi: 10.1073/pnas.1305162110. Epub 2013 Oct 21.

22.

Accounting for epistatic interactions improves the functional analysis of protein structures.

Wilkins AD, Venner E, Marciano DC, Erdin S, Atri B, Lua RC, Lichtarge O.

Bioinformatics. 2013 Nov 1;29(21):2714-21. doi: 10.1093/bioinformatics/btt489. Epub 2013 Sep 10.

23.

Function prediction from networks of local evolutionary similarity in protein structure.

Erdin S, Venner E, Lisewski AM, Lichtarge O.

BMC Bioinformatics. 2013;14 Suppl 3:S6. doi: 10.1186/1471-2105-14-S3-S6. Epub 2013 Feb 28.

24.

A large-scale evaluation of computational protein function prediction.

Radivojac P, Clark WT, Oron TR, Schnoes AM, Wittkop T, Sokolov A, Graim K, Funk C, Verspoor K, Ben-Hur A, Pandey G, Yunes JM, Talwalkar AS, Repo S, Souza ML, Piovesan D, Casadio R, Wang Z, Cheng J, Fang H, Gough J, Koskinen P, Törönen P, Nokso-Koivisto J, Holm L, Cozzetto D, Buchan DW, Bryson K, Jones DT, Limaye B, Inamdar H, Datta A, Manjari SK, Joshi R, Chitale M, Kihara D, Lisewski AM, Erdin S, Venner E, Lichtarge O, Rentzsch R, Yang H, Romero AE, Bhat P, Paccanaro A, Hamp T, Kaßner R, Seemayer S, Vicedo E, Schaefer C, Achten D, Auer F, Boehm A, Braun T, Hecht M, Heron M, Hönigschmid P, Hopf TA, Kaufmann S, Kiening M, Krompass D, Landerer C, Mahlich Y, Roos M, Björne J, Salakoski T, Wong A, Shatkay H, Gatzmann F, Sommer I, Wass MN, Sternberg MJ, Škunca N, Supek F, Bošnjak M, Panov P, Džeroski S, Šmuc T, Kourmpetis YA, van Dijk AD, ter Braak CJ, Zhou Y, Gong Q, Dong X, Tian W, Falda M, Fontana P, Lavezzo E, Di Camillo B, Toppo S, Lan L, Djuric N, Guo Y, Vucetic S, Bairoch A, Linial M, Babbitt PC, Brenner SE, Orengo C, Rost B, Mooney SD, Friedberg I.

Nat Methods. 2013 Mar;10(3):221-7. doi: 10.1038/nmeth.2340. Epub 2013 Jan 27.

25.

Elevated glucose level at 30 minutes during an oral glucose tolerance test in obese adolescents: a new disorder of glucose tolerance.

Kabaroğlu C, Ersoy B, Onur E, Özhan B, Erdin S, Var A, Bayındır O, Dinç G.

Endocr J. 2013;60(2):197-205. Epub 2012 Oct 25.

26.

NetWalker: a contextual network analysis tool for functional genomics.

Komurov K, Dursun S, Erdin S, Ram PT.

BMC Genomics. 2012 Jun 25;13:282. doi: 10.1186/1471-2164-13-282.

27.

ETAscape: analyzing protein networks to predict enzymatic function and substrates in Cytoscape.

Bachman BJ, Venner E, Lua RC, Erdin S, Lichtarge O.

Bioinformatics. 2012 Aug 15;28(16):2186-8. doi: 10.1093/bioinformatics/bts331. Epub 2012 Jun 11.

28.

The use of evolutionary patterns in protein annotation.

Wilkins AD, Bachman BJ, Erdin S, Lichtarge O.

Curr Opin Struct Biol. 2012 Jun;22(3):316-25. doi: 10.1016/j.sbi.2012.05.001. Epub 2012 May 24. Review.

29.

A lysosome-to-nucleus signalling mechanism senses and regulates the lysosome via mTOR and TFEB.

Settembre C, Zoncu R, Medina DL, Vetrini F, Erdin S, Erdin S, Huynh T, Ferron M, Karsenty G, Vellard MC, Facchinetti V, Sabatini DM, Ballabio A.

EMBO J. 2012 Mar 7;31(5):1095-108. doi: 10.1038/emboj.2012.32. Epub 2012 Feb 17.

30.

Evolutionary trace for prediction and redesign of protein functional sites.

Wilkins A, Erdin S, Lua R, Lichtarge O.

Methods Mol Biol. 2012;819:29-42. doi: 10.1007/978-1-61779-465-0_3.

31.

TFEB links autophagy to lysosomal biogenesis.

Settembre C, Di Malta C, Polito VA, Garcia Arencibia M, Vetrini F, Erdin S, Erdin SU, Huynh T, Medina D, Colella P, Sardiello M, Rubinsztein DC, Ballabio A.

Science. 2011 Jun 17;332(6036):1429-33. doi: 10.1126/science.1204592. Epub 2011 May 26.

32.

Protein function prediction: towards integration of similarity metrics.

Erdin S, Lisewski AM, Lichtarge O.

Curr Opin Struct Biol. 2011 Apr;21(2):180-8. doi: 10.1016/j.sbi.2011.02.001. Epub 2011 Feb 24. Review.

33.

Accurate protein structure annotation through competitive diffusion of enzymatic functions over a network of local evolutionary similarities.

Venner E, Lisewski AM, Erdin S, Ward RM, Amin SR, Lichtarge O.

PLoS One. 2010 Dec 13;5(12):e14286. doi: 10.1371/journal.pone.0014286.

34.

Hormad1 mutation disrupts synaptonemal complex formation, recombination, and chromosome segregation in mammalian meiosis.

Shin YH, Choi Y, Erdin SU, Yatsenko SA, Kloc M, Yang F, Wang PJ, Meistrich ML, Rajkovic A.

PLoS Genet. 2010 Nov 4;6(11):e1001190. doi: 10.1371/journal.pgen.1001190. Erratum in: PLoS Genet. 2011;7(2). doi: 10.1371/annotation/8aa656b6-55f7-4795-a441-cf243ea62175.

35.

Sequence and structure continuity of evolutionary importance improves protein functional site discovery and annotation.

Wilkins AD, Lua R, Erdin S, Ward RM, Lichtarge O.

Protein Sci. 2010 Jul;19(7):1296-311. doi: 10.1002/pro.406.

36.

Evolutionary trace annotation of protein function in the structural proteome.

Erdin S, Ward RM, Venner E, Lichtarge O.

J Mol Biol. 2010 Mar 12;396(5):1451-73. doi: 10.1016/j.jmb.2009.12.037. Epub 2009 Dec 28.

37.

Evolutionary Trace Annotation Server: automated enzyme function prediction in protein structures using 3D templates.

Ward RM, Venner E, Daines B, Murray S, Erdin S, Kristensen DM, Lichtarge O.

Bioinformatics. 2009 Jun 1;25(11):1426-7. doi: 10.1093/bioinformatics/btp160. Epub 2009 Mar 23.

38.

De-orphaning the structural proteome through reciprocal comparison of evolutionarily important structural features.

Ward RM, Erdin S, Tran TA, Kristensen DM, Lisewski AM, Lichtarge O.

PLoS One. 2008 May 7;3(5):e2136. doi: 10.1371/journal.pone.0002136.

39.

Prediction of enzyme function based on 3D templates of evolutionarily important amino acids.

Kristensen DM, Ward RM, Lisewski AM, Erdin S, Chen BY, Fofanov VY, Kimmel M, Kavraki LE, Lichtarge O.

BMC Bioinformatics. 2008 Jan 11;9:17. doi: 10.1186/1471-2105-9-17.

40.

Photoinduced magnetism caused by charge-transfer excitations in tetracyanoethylene-based organic magnets.

Erdin S, van Veenendaal M.

Phys Rev Lett. 2006 Dec 15;97(24):247202. Epub 2006 Dec 11.

PMID:
17280313
41.

Topological textures in a ferromagnet-superconductor bilayer.

Erdin S, Lyuksyutov IF, Pokrovsky VL, Vinokur VM.

Phys Rev Lett. 2002 Jan 7;88(1):017001. Epub 2001 Dec 14.

PMID:
11800979

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