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Page 1
Mutation analysis of TMC1 identifies four new mutations and suggests an additional deafness gene at loci DFNA36 and DFNB7/11.
Hilgert N, Alasti F, Dieltjens N, Pawlik B, Wollnik B, Uyguner O, Delmaghani S, Weil D, Petit C, Danis E, Yang T, Pandelia E, Petersen MB, Goossens D, Favero JD, Sanati MH, Smith RJ, Van Camp G. Hilgert N, et al. Among authors: pawlik b. Clin Genet. 2008 Sep;74(3):223-32. doi: 10.1111/j.1399-0004.2008.01053.x. Epub 2008 Jul 9. Clin Genet. 2008. PMID: 18616530 Free PMC article.
A mutation screen in patients with Kabuki syndrome.
Li Y, Bögershausen N, Alanay Y, Simsek Kiper PO, Plume N, Keupp K, Pohl E, Pawlik B, Rachwalski M, Milz E, Thoenes M, Albrecht B, Prott EC, Lehmkühler M, Demuth S, Utine GE, Boduroglu K, Frankenbusch K, Borck G, Gillessen-Kaesbach G, Yigit G, Wieczorek D, Wollnik B. Li Y, et al. Among authors: pawlik b. Hum Genet. 2011 Dec;130(6):715-24. doi: 10.1007/s00439-011-1004-y. Epub 2011 May 24. Hum Genet. 2011. PMID: 21607748
A large duplication involving the IHH locus mimics acrocallosal syndrome.
Yuksel-Apak M, Bögershausen N, Pawlik B, Li Y, Apak S, Uyguner O, Milz E, Nürnberg G, Karaman B, Gülgören A, Grzeschik KH, Nürnberg P, Kayserili H, Wollnik B. Yuksel-Apak M, et al. Among authors: pawlik b. Eur J Hum Genet. 2012 Jun;20(6):639-44. doi: 10.1038/ejhg.2011.250. Epub 2012 Jan 11. Eur J Hum Genet. 2012. PMID: 22234151 Free PMC article.
A specific mutation in the distant sonic hedgehog (SHH) cis-regulator (ZRS) causes Werner mesomelic syndrome (WMS) while complete ZRS duplications underlie Haas type polysyndactyly and preaxial polydactyly (PPD) with or without triphalangeal thumb.
Wieczorek D, Pawlik B, Li Y, Akarsu NA, Caliebe A, May KJ, Schweiger B, Vargas FR, Balci S, Gillessen-Kaesbach G, Wollnik B. Wieczorek D, et al. Among authors: pawlik b. Hum Mutat. 2010 Jan;31(1):81-9. doi: 10.1002/humu.21142. Hum Mutat. 2010. PMID: 19847792
LRP4 mutations alter Wnt/beta-catenin signaling and cause limb and kidney malformations in Cenani-Lenz syndrome.
Li Y, Pawlik B, Elcioglu N, Aglan M, Kayserili H, Yigit G, Percin F, Goodman F, Nürnberg G, Cenani A, Urquhart J, Chung BD, Ismail S, Amr K, Aslanger AD, Becker C, Netzer C, Scambler P, Eyaid W, Hamamy H, Clayton-Smith J, Hennekam R, Nürnberg P, Herz J, Temtamy SA, Wollnik B. Li Y, et al. Among authors: pawlik b. Am J Hum Genet. 2010 May 14;86(5):696-706. doi: 10.1016/j.ajhg.2010.03.004. Epub 2010 Apr 8. Am J Hum Genet. 2010. PMID: 20381006 Free PMC article.
Temtamy preaxial brachydactyly syndrome is caused by loss-of-function mutations in chondroitin synthase 1, a potential target of BMP signaling.
Li Y, Laue K, Temtamy S, Aglan M, Kotan LD, Yigit G, Canan H, Pawlik B, Nürnberg G, Wakeling EL, Quarrell OW, Baessmann I, Lanktree MB, Yilmaz M, Hegele RA, Amr K, May KW, Nürnberg P, Topaloglu AK, Hammerschmidt M, Wollnik B. Li Y, et al. Among authors: pawlik b. Am J Hum Genet. 2010 Dec 10;87(6):757-67. doi: 10.1016/j.ajhg.2010.10.003. Am J Hum Genet. 2010. PMID: 21129728 Free PMC article.
Beam-energy dependence of charge separation along the magnetic field in Au+Au collisions at RHIC.
Adamczyk L, Adkins JK, Agakishiev G, Aggarwal MM, Ahammed Z, Alekseev I, Alford J, Anson CD, Aparin A, Arkhipkin D, Aschenauer EC, Averichev GS, Banerjee A, Beavis DR, Bellwied R, Bhasin A, Bhati AK, Bhattarai P, Bichsel H, Bielcik J, Bielcikova J, Bland LC, Bordyuzhin IG, Borowski W, Bouchet J, Brandin AV, Brovko SG, Bültmann S, Bunzarov I, Burton TP, Butterworth J, Caines H, Calderón de la Barca Sánchez M, Cebra D, Cendejas R, Cervantes MC, Chaloupka P, Chang Z, Chattopadhyay S, Chen HF, Chen JH, Chen L, Cheng J, Cherney M, Chikanian A, Christie W, Chwastowski J, Codrington MJ, Contin G, Cramer JG, Crawford HJ, Cui X, Das S, Davila Leyva A, De Silva LC, Debbe RR, Dedovich TG, Deng J, Derevschikov AA, Derradi de Souza R, Dhamija S, di Ruzza B, Didenko L, Dilks C, Ding F, Djawotho P, Dong X, Drachenberg JL, Draper JE, Du CM, Dunkelberger LE, Dunlop JC, Efimov LG, Engelage J, Engle KS, Eppley G, Eun L, Evdokimov O, Eyser O, Fatemi R, Fazio S, Fedorisin J, Filip P, Finch E, Fisyak Y, Flores CE, Gagliardi CA, Gangadharan DR, Garand D, Geurts F, Gibson A, Girard M, Gliske S, Greiner L, Grosnick D, Gunarathne DS, Guo Y, Gupta A, Gupta S, Guryn W, Haag B, Hamed A, Han LX, Haque R, Harri… See abstract for full author list ➔ Adamczyk L, et al. Among authors: pawlik b. Phys Rev Lett. 2014 Aug 1;113(5):052302. doi: 10.1103/PhysRevLett.113.052302. Epub 2014 Jul 30. Phys Rev Lett. 2014. PMID: 25126911
Measurement of longitudinal spin asymmetries for weak boson production in polarized proton-proton collisions at RHIC.
Adamczyk L, Adkins JK, Agakishiev G, Aggarwal MM, Ahammed Z, Alekseev I, Alford J, Anson CD, Aparin A, Arkhipkin D, Aschenauer EC, Averichev GS, Balewski J, Banerjee A, Beavis DR, Bellwied R, Bhasin A, Bhati AK, Bhattarai P, Bichsel H, Bielcik J, Bielcikova J, Bland LC, Bordyuzhin IG, Borowski W, Bouchet J, Brandin AV, Brovko SG, Bültmann S, Bunzarov I, Burton TP, Butterworth J, Caines H, Calderón de la Barca Sánchez M, Campbell JM, Cebra D, Cendejas R, Cervantes MC, Chaloupka P, Chang Z, Chattopadhyay S, Chen HF, Chen JH, Chen L, Cheng J, Cherney M, Chikanian A, Christie W, Chwastowski J, Codrington MJ, Contin G, Cramer JG, Crawford HJ, Cui X, Das S, Davila Leyva A, De Silva LC, Debbe RR, Dedovich TG, Deng J, Derevschikov AA, Derradi de Souza R, Dhamija S, di Ruzza B, Didenko L, Dilks C, Ding F, Djawotho P, Dong X, Drachenberg JL, Draper JE, Du CM, Dunkelberger LE, Dunlop JC, Efimov LG, Engelage J, Engle KS, Eppley G, Eun L, Evdokimov O, Eyser O, Fatemi R, Fazio S, Fedorisin J, Filip P, Finch E, Fisyak Y, Flores CE, Gagliardi CA, Gangadharan DR, Garand D, Geurts F, Gibson A, Girard M, Gliske S, Greiner L, Grosnick D, Gunarathne DS, Guo Y, Gupta A, Gupta S, Guryn W, Haag B, Hamed … See abstract for full author list ➔ Adamczyk L, et al. Among authors: pawlik b. Phys Rev Lett. 2014 Aug 15;113(7):072301. doi: 10.1103/PhysRevLett.113.072301. Epub 2014 Aug 13. Phys Rev Lett. 2014. PMID: 25170701
155 results