Institut für Humangenetik Köln

• 2004

  1. Bolz H, Bolz SS, Schade G, Kothe C, Mohrmann G, Hess M, Gal A
     Impaired calmodulin binding of myosin-7A causes autosomal dominant hearing loss (DFNA11)
     Hum Mutat. 2004;24(3):274-5
     [PubMed] PMID: 15300860
     

  2. Hering R, Strauss KM, Tao X, Bauer A, Woitalla D, Mietz EM, Petrovic S, Bauer P, Schaible W, Muller T, Schols L, Klein C, Berg D, Meyer PT, Schulz JB, Wollnik B, Tong L, Kruger R, Riess O
     Novel homozygous p.E64D mutation in DJ1 in early onset Parkinson disease (PARK7)
     Hum Mutat. 2004;24(4):321-9
     [PubMed] PMID: 15365989
     

  3. Jeron A, Hengstenberg C, Holmer S, Wollnik B, Riegger GA, Schunkert H, Erdmann J
     KCNJ11 polymorphisms and sudden cardiac death in patients with acute myocardial infarction
     J Mol Cell Cardiol. 2004;36(2):287-93
     [PubMed] PMID: 14871556
     

  4. Brichta L, Hahnen E, Haug K, Stier S, Klockgether T, Wirth B
     Einfluss von Valproinsäure auf den SMN2-Proteinlevel: Eine gut bekannte Substanz als mögliche Therapie der spinalen Muskelatrophie
     Jahrbuch der Neuromuskulären Erkrankungen (2004), Arcis Verlag, ISSN 1435-4209
     

  5. Basaran S, Engur A, Aytan M, Karaman B, Ghanbari A, Toksoy G, Yuksel A, Cankat D, Kervancioglu E, Wollnik B, Bahceci M, Yuksel-Apak M
     The results of cytogenetic analysis with regard to intracytoplasmic sperm injection in males, females and fetuses
     Fetal Diagn Ther. 2004 Jul-Aug;19(4):313-8
     [PubMed] PMID: 15192289
     

• 2005

  1. Sun Y, Grimmler M, Schwarzer V, Schoenen F, Fischer U, Wirth B
     Molecular and functional analysis of intragenic SMN1 mutations in patients with spinal muscular atrophy
     Hum Mutat. 2005;25(1):64-71
     [PubMed] PMID: 15580564
     

  2. Stefanova M, Meinecke P, Gal A, Bolz H
     A novel 9 bp deletion in the filamin a gene causes an otopalatodigital-spectrum disorder with a variable, intermediate phenotype
     Am J Med Genet A. 2005;132(4):386-90
     [PubMed] PMID: 15654694
     

  3. Horn D, Chyrek M, Kleier S, Luttgen S, Bolz H, Hinkel GK, Korenke GC, Riess A, Schell-Apacik C, Tinschert S, Wieczorek D, Gillessen-Kaesbach G, Kutsche K
     Novel mutations in BCOR in three patients with oculo-facio-cardio-dental syndrome, but none in Lenz microphthalmia syndrome
     Eur J Hum Genet. 2005;13(5):563-9
     [PubMed] PMID: 15770227
     

  4. Todt U, Dichgans M, Jurkat-Rott K, Heinze A, Zifarelli G, Koenderink JB, Goebel I, Zumbroich V, Stiller A, Ramirez A, Friedrich T, Gobel H, Kubisch C
     Rare missense variants in ATP1A2 in families with clustering of common forms of migraine
     Hum Mutat. 2005;26(4):315-21
     [PubMed] PMID: 16110494
     

  5. Buslei R, Nolde M, Hofmann B, Meissner S, Eyupoglu IY, Siebzehnrubl F, Hahnen E, Kreutzer J, Fahlbusch R
     Common mutations of beta-catenin in adamantinomatous craniopharyngiomas but not in other tumours originating from the sellar region
     Acta Neuropathol (Berl). 2005;109(6):589-97
     [PubMed] PMID: 15891929
     

  6. Eyupoglu IY, Hahnen E, Heckel A, Siebzehnrubl FA, Buslei R, Fahlbusch R, Blumcke I
     Malignant glioma-induced neuronal cell death in an organotypic glioma invasion model. Technical note
     J Neurosurg. 2005;102(4):738-44.
     [PubMed] PMID: 15871520
     

  7. Eyupoglu IY, Hahnen E, Buslei R, Siebzehnrubl FA, Savaskan NE, Luders M, Trankle C, Wick W, Weller M, Fahlbusch R, Blumcke I
     Suberoylanilide hydroxamic acid (SAHA) has potent anti-glioma properties in vitro, ex vivo and in vivo
     J Neurochem. 2005;93(4):992-9
     [PubMed] PMID: 15857402
     

  8. Chefetz I, Heller R, Galli-Tsinopoulou A, Richard G, Wollnik B, Indelman M, Koerber F, Topaz O, Bergman R, Sprecher E, Schoenau E
     A novel homozygous missense mutation in FGF23 causes Familial Tumoral Calcinosis associated with disseminated visceral calcification
     Hum Genet. 2005;118(2):261-6
     [PubMed] PMID: 16151858
     

  9. Madrid RE, Kubisch C, Hays AP
     Early-onset toe walking in rippling muscle disease due to a new caveolin-3 gene mutation
     Neurology 2005;65:1301-1303
     [PubMed] PMID: 16247063
     

  10. Kalay E, de Brouwer AP, Caylan R, Nabuurs SB, Wollnik B, Karaguzel A, Heister JG, Erdol H, Cremers FP, Cremers CW, Brunner HG, Kremer H
      A novel D458V mutation in the SANS PDZ binding motif causes atypical Usher syndrome
      J Mol Med. 2005;83(12):1025-32
      [PubMed] PMID: 16283141
      

  11. Karsak M, Cohen-Solal M, Freudenberg J, Ostertag A, Morieux C, Kornak U, Essig J, Erxlebe E, Bab I, Kubisch C, de Vernejoul MC, Zimmer A
      Cannabinoid receptor type 2 gene is associated with human osteoporosis
      Hum Mol Genet. 2005;14(22):3389-99
      [PubMed] PMID: 16204352
      

  12. Bolz H, Ebermann I, Gal A
      Protocadherin-21 (PCDH21), a candidate gene for human retinal dystrophies
      Mol Vis. 2005;11:929-933
      [PubMed] PMID: 16288196
      

  13. Bertini E, Burghes A, Bushby K, Estournet-Mathiaud B, Finkel RS, Hughes RA, Iannaccone ST, Melki J, Mercuri E, Muntoni F, Voit T, Reitter B, Swoboda KJ, Tiziano D, Tizzano E, Topaloglu H, Wirth B, Zerres K
      134th ENMC International Workshop: Outcome Measures and Treatment of Spinal Muscular Atrophy
      11-13 February 2005, Naarden, The Netherlands. Neuromuscul Disord. 2005;15(11):802-16
      [PubMed] PMID: 16202598
      

  14. Fischer D, Walter MC, Kesper K, Petersen JA, Aurino S, Nigro V, Kubisch C, Meindl T, Lochmuller H, Wilhelm K, Urbach H, Schroder R
      Diagnostic value of muscle MRI in differentiating LGMD2I from other LGMDs
      J Neurol. 2005;252(5):538-47
      [PubMed] PMID: 15726252
      

  15. Kubisch C, Ketelsen UP, Goebel I, Omran H
      Autosomal recessive rippling muscle disease with homozygous CAV3 mutations
      Ann Neurol 2005; 57: 303-304
      [PubMed] PMID: 15668980
      

  16. Tukel T, Uzumcu A, Gezer A, Kayserili H, Yuksel-Apak M, Uyguner O, Gultekin S, Hennies HC, Nurnberg P, Desnick RJ, and Wollnik B
      A new syndrome, congenital extraocular muscle fibrosis with ulnar hand anomalies, maps to chromosome 21qter
      J Med Genet 2005; 42: 408-415
      [PubMed] PMID: 15863670
      

  Reviews:

  1. Bolz H
     Genetics of retinal dystrophies - an overview
     Ophthalmologe. 2005;102(7):661-73
     [PubMed] PMID: 15782291
     [Der Ophtalmologe]

  2. Kubisch C
     Genetische Grundlagen nichtsyndromaler Hörstörungen
     Deutsches Ärzteblatt. 2005, A2946 – A2953
     [Deutsches Ärzteblatt]

• 2006

  1. Tagariello A, Heller R, Greven A, Kalscheuer VM, Molter T, Rauch A, Kress W, Winterpacht A
     Balanced translocation in a patient with craniosynostosis disrupts the SOX6 gene and an evolutionary conserved non-transcribed region
     J Med Genet. 2006;43(6):534-40
     [PubMed] PMID: 16258006
     

  2. Uzumcu A, Norgett EE, Dindar A, Uyguner O, Nisli K, Kayserili H, Sahin SE, Dupont E, Severs NJ, Leigh IM, Yuksel-Apak M, Kelsell DP, Wollnik B
     Loss of desmoplakin isoform I causes early onset cardiomyopathy and heart failure in a Naxos-like syndrome
     J Med Genet. 2006;43(2):e5
     [PubMed] PMID: 16467215
     

  3. Netzer C, Todt U, Heinze A, Freudenberg J, Zumbroich V, Becker T, Goebel I, Ohlraun S, Goebel H, Kubisch C
     Haplotype-based systematic association studies of ATP1A2 in migraine with aura
     Am J Med Genet B Neuropsychiatr Genet. 2006;141B(3):257-260
     [PubMed] PMID: 16508935
     

  4. Netzer C, Bohlander SK, Hinzke M, Chen Y, Kohlhase J
     Defining the heterochromatin localization and repression domains of SALL1
     Biochim Biophys Acta. 2006 Mar; 1762(3):386-91
     [PubMed] PMID: 16508935
     

  5. Buslei R, Kreutzer J, Hofmann B, Schmidt V, Siebzehnrubl F, Hahnen E, Eyupoglu IY, Fahlbusch R, Blumcke I
     Abundant hypermethylation of SOCS-1 in clinically silent pituitary adenomas
     Acta Neuropathol (Berl). 2006;111(3):264-71
     [PubMed] PMID: 16421738
     

  6. Wirth B, Brichta L, Schrank B, Lochmuller H, Blick S, Baasner A, Heller R
     Mildly affected patients with spinal muscular atrophy are partially protected by an increased SMN2 copy number
     Hum Genet. 2006;119(4):422-8
     [PubMed] PMID: 16508748
     

  7. Li Y, Wollnik B, Pabst S, Lennarz M, Rohmann E, Gillissen A, Vetter H, Grohe C
     BTNL2 gene variant and sarcoidosis
     Thorax. 2006;61(3):273-4
     [PubMed] PMID: 16517590
     

  8. Rohmann E, Brunner HG, Kayserili H, Uyguner O, Nurnberg G, Lew ED, Dobbie A, Eswarakumar VP, Uzumcu A, Ulubil-Emeroglu M, Leroy JG, Li Y, Becker C, Lehnerdt K, Cremers CW, Yuksel-Apak M, Nurnberg P, Kubisch C, Schlessinger J, van Bokhoven H, Wollnik B
     Mutations in different components of FGF signaling in LADD syndrome
     Nat Genet. 2006;38(4):414-7
     [PubMed] PMID: 16501574
     

  9. Schoenen F, Wirth B
     The zinc finger protein ZNF297B interacts with BDP1, a subunit of TFIIIB
     Biol Chem. 2006;387(3):277-84
     [PubMed] PMID: 16542149
     

  10. Brichta L, Holker I, Haug K, Klockgether T, Wirth B
      In vivo activation of SMN in spinal muscular atrophy carriers and patients treated with valproate
      Ann Neurol. 2006;59(6):970-5
      [PubMed] PMID: 16607616
      

  11. Holsken A, Eyupoglu IY, Lueders M, Trankle C, Dieckmann D, Buslei R, Hahnen E, Blumcke I, Siebzehnrubl FA
      Ex vivo therapy of malignant melanomas transplanted into organotypic brain slice cultures using inhibitors of histone deacetylases
      Acta Neuropathol (Berl). 2006;112(2):205-15
      [PubMed] PMID: 16773328
      

  12. Fyfe JC, Menotti-Raymond M, David VA, Brichta L, Schaffer AA, Agarwala R, Murphy WJ, Wedemeyer WJ, Gregory BL, Buzzell BG, Drummond MC, Wirth B, O'brien SJ
      An ~140-kb deletion associated with feline spinal muscular atrophy implies an essential LIX1 function for motor neuron survival
      Genome Res. 2006;16(9):1084-90
      [PubMed] PMID: 16899656
      

  13. Hahnen E, Eyupoglu IY, Brichta L, Haastert K, Trankle C, Siebzehnrubl FA, Riessland M, Holker I, Claus P, Romstock J, Buslei R, Wirth B, Blumcke I
      In vitro and ex vivo evaluation of second-generation histone deacetylase inhibitors for the treatment of spinal muscular atrophy
      J Neurochem. 2006l;98(1):193-202
      [PubMed] PMID: 16805808
      

  14. Riessland M, Brichta L, Hahnen E, Wirth B
      The benzamide M344, a novel histone deacetylase inhibitor, significantly increases SMN2 RNA/protein levels in spinal muscular atrophy cells
      Hum Genet. 2006;120(1):101-10
      [PubMed] PMID: 16724231
      

  15. Eyupoglu IY, Hahnen E, Trankle C, Savaskan NE, Siebzehnrubl FA, Buslei R, Lemke D, Wick W, Fahlbusch R, Blumcke I
      Experimental therapy of malignant gliomas using the inhibitor of histone deacetylase MS-275
      Mol Cancer Ther. 2006;5(5):1248-55
      [PubMed] PMID: 16731757
      

  16. Netzer C, Helmstaedter C, Ehrbrecht A, Engels H, Schwanitz G, Urbach H, Schroder R, Weber RG, Kornblum C
      Global brain dysmyelination with above-average verbal skills in 18q- syndrome with a 17 Mb terminal deletion
      Acta Neurol Scand. 2006;114(2):133-8
      [PubMed] PMID: 16867037
      

  17. Kalay E, Li Y, Uzumcu A, Uyguner O, Collin RW, Caylan R, Ulubil-Emiroglu M, Kersten FF, Hafiz G, van Wijk E, Kayserili H, Rohmann E, Wagenstaller J, Hoefsloot LH, Strom TM, Nurnberg G, Baserer N, den Hollander AI, Cremers FP, Cremers CW, Becker C, Brunner HG, Nurnberg P, Karaguzel A, Basaran S, Kubisch C, Kremer H, Wollnik B
      Mutations in the lipoma HMGIC fusion partner-like 5 (LHFPL5) gene cause autosomal recessive nonsyndromic hearing loss
      Hum Mutat. 2006;27(7):633-9
      [PubMed] PMID: 16752389
      

  18. Uyguner ZO, Siva A, Kayserili H, Saip S, Altintas A, Apak MY, Albayram S, Isik N, Akman-Demir G, Tasyurekli M, Oz B, Wollnik B
      The R110C mutation in Notch3 causes variable clinical features in two Turkish families with CADASIL syndrome
      J Neurol Sci. 2006;246(1-2):123-30
      [PubMed] PMID: 16730748
      

  19. Ramirez A, Heimbach A, Grundemann J, Stiller B, Hampshire D, Cid LP, Goebel I, Mubaidin AF, Wriekat AL, Roeper J, Al-Din A, Hillmer AM, Karsak M, Liss B, Woods CG, Behrens MI, Kubisch C
      Hereditary parkinsonism with dementia is caused by mutations in ATP13A2, encoding a lysosomal type 5 P-type ATPase
      Nat Genet. 2006;38(10):1184-91
      [PubMed] PMID: 16964263
      

  20. Wolf MT, Mucha BE, Hennies HC, Attanasio M, Panther F, Zalewski I, Karle SM, Otto EA, Deltas CC, Fuchshuber A, Hildebrandt F
      Medullary cystic kidney disease type 1: mutational analysis in 37 genes based on haplotype sharing
      Hum Genet. 2006;119(6):649-58
      [PubMed] PMID: 16738948
      

  21. Todt U, Freudenberg J, Goebel I, Netzer C, Heinze A, Heinze-Kuhn K, Gobel H, Kubisch C
      MTHFR C677T polymorphism and migraine with aura
      Ann Neurol. 2006;60(5):621-2; author reply 622-3
      [PubMed] PMID: 16800002
      

  22. Todt U, Freudenberg J, Goebel I, Heinze A, Heinze-Kuhn K, Rietschel M, Göbel H, Kubisch C
      Variation of the serotonin transporter gene SLC6A4 in the susceptibility to migraine with aura
      Neurology. 2006;67(9):1707-9
      [PubMed] PMID: 17101915
      

  Reviews:

  1. Wirth B, Brichta L, Hahnen E
     Spinal muscle Atrophy: From gene to therapy
     Semin Pediatr Neurol. 2006; 13: 121-31. BUCHBEITRAG
     [PubMed] PMID: 17027862
     

  2. Wirth B, Brichta L, Hahnen E
     Spinal muscular atrophy and therapeutic prospects
     Prog Mol Subcell Biol. 2006;44:109-32
     [PubMed] PMID: 17076267
     [Springer] ISBN-10: 3-540-34448-9, ISBN-13: 978-3-540-34448-3

• 2007

  1. Siebzehnrübl FA, Buslei R, Eyüpoglu IY, Seufert S, Hahnen E and Blümcke I
     Histone Deacetylase Inhibitors Increase Neuronal Differentiation in Adult Forebrain Stem and Progenitor Cells
     Exp Brain Res. 2007; 176(4):672-8
     [PubMed] PMID: 17216146
     

  2. Hoepken HH, Gispert S, Morales B, Wingerter O, Del Turco D, Mulsch A, Nussbaum RL, Muller K, Drose S, Brandt U, Deller T, Wirth B, Kudin AP, Kunz WS, Auburger G
     Mitochondrial dysfunction, peroxidation damage and changes in glutathione metabolism in PARK6
     Neurobiol Dis. 2007; 25(2):401-11
     [PubMed] PMID: 17141510
     

  3. Rudnik-Schoneborn S, Botzenhart E, Eggermann T, Senderek J, Schoser BG, Schroder R, Wehnert M, Wirth B, Zerres K
     Mutations of the LMNA gene can mimic autosomal dominant proximal spinal muscular atrophy
     Neurogenetics. 2007; 8(2):137-42
     [PubMed] PMID: 17136397
     

  4. Antzelevitch C, Pollevick GD, Cordeiro JM, Casis O, Sanguinetti M, Aizawa Y, Guerchicoff A, Pfeiffer R, Oliva A, Wollnik B, Gelber P, Bonaros EP, Burashnikov E, Wu Y, Sargent JD, Schickel S, Oberheiden R, Bhatia A, Hsu LF, Haissaguerre M, Schimpf R, Borggrefe M, Wolpert C
     Loss-of-function mutations in the cardiac calcium channel underlie a new clinical entity characterized by ST-segment elevation, short QT intervals, and sudden cardiac death
     Circulation. 2007; 15(4):442-9
     [PubMed] PMID: 17224476
     

  5. Uyguner O, Kayserili H, Li Y, Karaman B, Nürnberg G, Hennies HC, Becker C, Nürnberg P, Basaran S, Yüksel Apak M, Wollnik B
     A new locus for autosomal recessive non-syndromic mental retardation maps to 1p21.1-p13.3
     Clin Genet. 2007; 71(3):212-9
     [PubMed] PMID: 17309643
     

  6. Ebermann I, Walger M, Scholl HP, Issa PC, Luke C, Nurnberg G, Lang-Roth R, Becker C, Nurnberg P, Bolz HJ
     Truncating mutation of the DFNB59 gene causes cochlear hearing impairment and central vestibular dysfunction
     Hum Mutat. 2007; 28(6):571-7
     [PubMed] PMID: 17301963
     

  7. Ebermann I, Scholl HP, Charbel Issa P, Becirovic E, Lamprecht J, Jurklies B, Millan JM, Aller E, Mitter D, Bolz H
     A novel gene for Usher syndrome type 2: mutations in the long isoform of whirlin are associated with retinitis pigmentosa and sensorineural hearing loss
     Hum Genet. 2007; 121(2):203-11
     [PubMed] PMID: 17171570
     

  8. Dressman D, Ahearn ME, Yariz KO, Basterrecha H, Martinez F, Palau F, Barmada MM, Clark RD, Meindl A, Wirth B, Hoffman EP, Baumbach-Reardon L
     X-linked infantile spinal muscular atrophy: clinical definition and molecular mapping
     Genet Med. 2007; 9(1):52-60
     [PubMed] PMID: 17224690
     

  9. Ebermann I, Lopez I, Bitner-Glindzicz M, Brown C, Koenekoop RK, Bolz HJ
     Deafblindness in French Canadians from Quebec: a predominant founder mutation in the USH1C gene provides the first genetic link with the Acadian population
     Genome Biol. 2007; 8(4):R47
     [PubMed] PMID: 17407589
     

  10. Crisponi L, Crisponi G, Meloni A, Toliat MR, Nurnberg G, Usala G, Uda M, Masala M, Hohne W, Becker C, Marongiu M, Chiappe F, Kleta R, Rauch A, Wollnik B, Strasser F, Reese T, Jakobs C, Kurlemann G, Cao A, Nurnberg P, Rutsch F
      Crisponi syndrome is caused by mutations in the CRLF1 gene and is allelic to cold-induced sweating syndrome type 1
      Am J Hum Genet. 2007; 80(5):971-81
      [PubMed] PMID: 17436252
      

  11. Coras R, Holsken A, Seufert S, Hauke J, Eyupoglu IY, Reichel M, Trankle C, Siebzehnrubl FA, Buslei R, Blumcke I, Hahnen E
      The peroxisome proliferator-activated receptor-gamma agonist troglitazone inhibits transforming growth factor-beta-mediated glioma cell migration and brain invasion
      Mol Cancer Ther. 2007; 6(6):1745-54
      [PubMed] PMID: 17541035
      

  12. Collin RW, Kalay E, Oostrik J, Caylan R, Wollnik B, Arslan S, den Hollander AI, Birinci Y, Lichtner P, Strom TM, Toraman B, Hoefsloot LH, Cremers CW, Brunner HG, Cremers FP, Karaguzel A, Kremer H
      Involvement of DFNB59 mutations in autosomal recessive nonsyndromic hearing impairment
      Hum Mutat. 2007; 28(7):718-23
      [PubMed] PMID: 17373699
      

  13. Frank V, Ortiz Bruchle N, Mager S, Frints SG, Bohring A, du Bois G, Debatin I, Seidel H, Senderek J, Besbas N, Todt U, Kubisch C, Grimm T, Teksen F, Balci S, Zerres K, Bergmann C
      Aberrant splicing is a common mutational mechanism in MKS1, a key player in Meckel-Gruber syndrome
      Hum Mutat. 2007; 28(6):638-9
      [PubMed] PMID: 17437276
      

  14. Brockschmidt A, Todt U, Ryu S, Hoischen A, Landwehr C, Birnbaum S, Frenck W, Radlwimmer B, Lichter P, Engels H, Driever W, Kubisch C, Weber RG
      Severe mental retardation with breathing abnormalities (Pitt-Hopkins syndrome) is caused by haploinsufficiency of the neuronal bHLH transcription factor TCF4
      Hum Mol Genet. 2007; 16(12):1488-94
      [PubMed] PMID: 17478476
      

  15. Babbs C, Heller R, Everman DB, Crocker M, Twigg SR, Schwartz CE, Giele H, Wilkie AO
      A new locus for split hand/foot malformation with long bone deficiency (SHFLD) at 2q14.2 identified from a chromosome translocation
      Hum Genet. 2007; 122(2):191-9
      [PubMed] PMID: 17569090
      

  16. Elcioglu NH, Akin B, Toker E, Elcioglu M, Kaya A, Tuncali T, Wollnik B, Hornby S, Akarsu NA
      Colobomatous macrophthalmia with microcornea syndrome maps to the 2p23-p16 region
      Am J Med Genet A. 2007; 143(12):1308-12
      [PubMed] PMID: 17506091
      

  17. Ebermann I, Wilke R, Lauhoff T, Lübben D, Zrenner E, Bolz HJ
      Two truncating USH3A mutations, including one novel, in a German family with Usher syndrome
      Mol Vis. 2007; 13: 1539-47
      [PubMed] PMID: 17893653
      [Molecular Vision]

  18. Shams I, Rohmann E, Eswarakumar VP, Lew ED, Yuzawa S, Wollnik B, Schlessinger J, Lax I
      Lacrimo-Auriculo-Dento-Digital Syndrome Is Caused by Reduced Activity of the Fibroblast Growth Factor 10 (FGF10)-FGF Receptor 2 Signaling Pathway
      Mol Cell Biol. 2007; 27:6903-12
      [PubMed] PMID: 17682060
      

  19. Kubisch C
      Genetische Grundlagen der Migräne
      Med Gen. 2007; 19:330-4
      [SpringerLink / Medizinische Genetik]

  20. Kalay E, Uzumcu A, Krieger E, Caylan R, Uyguner O, Ulubil-Emiroglu M, Erdol H, Kayserili H, Hafiz G, Başerer N, Heister AJ, Hennies HC, Nürnberg P, Başaran S, Brunner HG, Cremers CW, Karaguzel A, Wollnik B, Kremer H
      MYO15A (DFNB3) mutations in Turkish hearing loss families and functional modeling of a novel motor domain mutation
      Am J Med Genet A. 2007;143:2382-9
      [PubMed] PMID: 17853461
      

  21. Lew ED, Bae JH, Rohmann E, Wollnik B, Schlessinger J
      Structural basis for reduced FGFR2 activity in LADD syndrome: Implications for FGFR autoinhibition and activation
      Proc Natl Acad Sci U S A. 2007 Dec 11;104(50):19802-7
      [PubMed] PMID: 18056630
      

  22. Boulouiz R, Li Y, Abidi O, Bolz H, Chafik A, Kubisch C, Roub H, Wollnik B, Barakat A
      Analysis of MYO7A in a Moroccan family with Usher syndrome type 1B: novel loss-of-function mutation and non-pathogenicity of p.Y1719C
      Mol Vis. 2007;13:1862-5
      [PubMed] PMID: 17960123
      

  Reviews:

  1. Wirth B, Riessland M, Hahnen E
     Drug discovery for spinal muscular atrophy
     Expert Opin Drug Discov. 2007; 2(4): 437-51
     [IngentaConnect]

  2. Boyadjiev SA, International Craniosynostosis Consortium (Wollnik B)
     Genetic analysis of non-syndromic craniosynostosis
     Orthod Craniofac Res. 2007; 10(3):129-37
     [PubMed] PMID: 17651129
     [Blackwell Publishing / Blackwell Synergy]

• 2008

  1. Pabst S, Wollnik B, Rohmann E, Hintz Y, Glänzer K, Vetter H, Nickenig G, Grohé C
     A novel stop mutation truncating critical regions of the cardiac transcription factor NKX2-5 in a large family with autosomaldominant inherited congenital heart disease
     Clin Res Cardiol. 2008; 97(1):39-42
     [PubMed] PMID: 17891520
     

  2. Kaplan Y, Vargel I, Kansu T, Akin B, Rohmann E, Kamaci S, Uz E, Ozcelik T, Wollnik B, Akarsu NA
     Skewed X-inactivation in an X-linked Nystagmus Family Resulted From a Novel, p.R229G, Missense Mutation in the FRMD7
     Br J Ophthalmol. 2008; 92(1):135-41
     [PubMed] PMID: 17962394
     

  3. Witsch-Baumgartner M, Schwentner I, Gruber M, Benlian P, Bertranpetit J, Bieth E, Chevy F, Clusellas N, Estivill X, Gasparini P, Giros M, Kelley RI, Krajewska-Walasek M, Menzel J, Miettinen TA, Ogorelkova M, Rossi M, Scala I, Schinzel A, Schmidt K, Schönitzer D, Seemanova E, Sperling K, Syrrou M, Talmud P, Wollnik B, Krawczak M, Labuda D, Utermann G
     Age and origin of major Smith-Lemli-Opitz Syndrome (SLOS) mutations in European populations
     J Med Genet. 2008 ;45(4):200-9
     [PubMed] PMID: 17965227
     

  4. Netzer C, Freudenberg J, Toliat MR, Heinze A, Heinze-Kuhn K, Thiele H, Goebel I, Nurnberg P, Ptacek LJ, Gobel H, Todt U, Kubisch C
     Genetic association studies of the chromosome 15 GABA-A receptor cluster in migraine with aura
     Am J Med Genet B Neuropsychiatr Genet. 2008 Jan 5;147B(1):37-41
     [PubMed] PMID: 17680603
     

  5. Schulz AL, Albrecht B, Arici C, van der Burgt I, Buske A, Gillessen-Kaesbach G, Heller R, Horn D, Hübner CA, Korenke GC, König R, Kress W, Krüger G, Meinecke P, Mücke J, Plecko B, Rossier E, Schinzel A, Schulze A, Seemanova E, Seidel H, Spranger S, Tuysuz B, Uhrig S, Wieczorek D, Kutsche K, Zenker M
     Mutation and phenotypic spectrum in patients with cardio-facio-cutaneous and Costello syndrome
     Clin Genet. 2008;73(1):62-70
     [PubMed] PMID: 18042262
     

  6. Michalk A, Stricker S, Becker J, Rupps R, Pantzar T, Miertus J, Botta G, Naretto VG, Janetzki C, Yaqoob N, Ott CE, Seelow D, Wieczorek D, Fiebig B, Wirth B, Hoopmann M, Walther M, Körber F, Blankenburg M, Mundlos S, Heller R, Hoffmann K
     Acetylcholine receptor pathway mutations explain various fetal akinesia deformation sequence disorders
     Am J Hum Genet. 2008; 82(2):464-76
     [PubMed] PMID: 18252226
     

  7. Collin RW, Kalay E, Tariq M, Peters T, van der Zwaag B, Venselaar H, Oostrik J, Lee K, Ahmed ZM, Caylan R, Li Y, Spierenburg HA, Eyupoglu E, Heister A, Riazuddin S, Bahat E, Ansar M, Arslan S, Wollnik B, Brunner HG, Cremers CW, Karaguzel A, Ahmad W, Cremers FP, Vriend G, Friedman TB, Riazuddin S, Leal SM, Kremer H
     Mutations of ESRRB encoding estrogen-related receptor beta cause autosomal-recessive nonsyndromic hearing impairment DFNB35
     Am J Hum Genet. 2008;82(1):125-38
     [PubMed] PMID: 18179891
     

  8. Brichta L, Garbes L, Jedrzejowska M, Grellscheid SN, Holker I, Zimmermann K, Wirth B
     Nonsense-mediated messenger RNA decay of survival motor neuron 1 causes spinal muscular atrophy
     Hum Genet. 2008;123(2):141-53
     [PubMed] PMID: 18172693
     

  9. Hahnen E, Hauke J, Tränkle C, Eyüpoglu IY, Wirth B, Blümcke I
     Histone deacetylase inhibitors: possible implications for neurodegenerative disorders
     Expert Opin Investig Drugs. 2008; 17(2):169-84
     [PubMed] PMID: 18230051
     

  10. Becirovic E, Ebermann I, Nagy D, Zrenner E, Seeliger MW, Bolz HJ
      Usher syndrome type 1 due to missense mutations on both CDH23 alleles: investigation of mRNA splicing
      Hum Mutat. 2008; 29(3): 452
      [PubMed] PMID: 18273900
      

  11. Stahl S, Gaetzner S, Voss K, Brackertz B, Schleider E, Sürücü O, Kunze E, Netzer C, Korenke C, Finckh U, Habek M, Poljakovic Z, Elbracht M, Rudnik-Schöneborn S, Bertalanffy H, Sure U, Felbor U
      Novel CCM1, CCM2, and CCM3 mutations in patients with cerebral cavernous malformations: in-frame deletion in CCM2 prevents formation of a CCM1/CCM2/CCM3 protein complex
      Hum Mutat. 2008;29(5):709-717
      [PubMed] PMID: 18300272
      

  12. Pasternack SM, von Kügelgen I, Aboud KA, Lee YA, Rüschendorf F, Voss K, Hillmer AM, Molderings GJ, Franz T, Ramirez A, Nürnberg P, Nöthen MM, Betz RC
      G protein-coupled receptor P2Y5 and its ligand LPA are involved in maintenance of human hair growth
      Nat Genet. 2008;40(3):329-34
      [PubMed] PMID: 18297070
      

  13. Oprea GE, Kröber S, McWhorter ML, Rossoll W, Müller S, Krawczak M, Bassell GJ, Beattie CE, Wirth B
      Plastin 3 is a protective modifier of autosomal recessive spinal muscular atrophy
      Science. 2008;320(5875):524-7
      [PubMed] PMID: 18440926
      [Science/Artikel], [Science/Abstract]

  14. Savaskan NE, Heckel A, Hahnen E, Engelhorn T, Doerfler A, Ganslandt O, Nimsky C, Buchfelder M, Eyüpoglu IY
      Small interfering RNA-mediated xCT silencing in gliomas inhibits neurodegeneration and alleviates brain edema
      Nat Med. 2008;14(6):629-32
      [PubMed] PMID: 18469825
      

  15. Ebermann I, Elsayed SM, Abdel-Ghaffar TY, Nürnberg G, Nürnberg P, Elsobky E, Bolz HJ
      Double homozygosity for mutations of AGL and SCN9A mimicking neurohepatopathy syndrome
      Neurology. 2008;70(24):2343-4
      [PubMed] PMID: 18541889
      

  16. Rudnik-Schöneborn S, Heller R, Berg C, Betzler C, Grimm T, Eggermann T, Eggermann K, Wirth R, Wirth B, Zerres K
      Congenital heart disease is a feature of severe infantile spinal muscular atrophy
      J Med Genet. 2008;45(10):635-8
      [PubMed] PMID: 18662980
      

  17. Peter BF, Lidington D, Harada A, Bolz HJ, Vogel L, Heximer S, Spiegel S, Pohl U, Bolz SS
      Role of sphingosine-1-phosphate phosphohydrolase 1 in the regulation of resistance artery tone
      Circ Res. 2008;103(3):315-24
      [PubMed] PMID: 18583713
      

  18. Budde BS, Namavar Y, Barth PG, Poll-The BT, Nürnberg G, Becker C, van Ruissen F, Weterman MA, Fluiter K, T Te Beek E, Aronica E, van der Knaap MS, Höhne W, Toliat MR, Crow YJ, Steinlin M, Voit T, Roelens F, Brussel W, Brockmann K, Kyllerman M, Boltshauser E, Hammersen G, Willemsen M, Basel-Vanagaite L, Krägeloh-Mann I, de Vries LS, Sztriha L, Muntoni F, Ferrie CD, Battini R, Hennekam RC, Grillo E, Beemer FA, Stoets LM, Wollnik B, Nürnberg P, Baas F
      tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia
      Nat Genet. 2008;40(9):1113-8
      [PubMed] PMID: 18711368
      

  19. 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 M, Goossens D, Favero J, Sanati M, Smith R, Van Camp G
      Mutation analysis of TMC1 identifies four new mutations and suggests an additional deafness gene at loci DFNA36 and DFNB7/11
      Clin Genet. 2008;74(3):223-32
      [PubMed] PMID: 18616530
      

  20. Tatenhorst L, Hahnen E, Heneka MT
      Peroxisome Proliferator-Activated Receptors (PPARs) as Potential Inducers of Antineoplastic Effects in CNS Tumors
      PPAR Res. 2008; 2008: 204514
      [PubMed] PMID: 18725982
      

  21. Siebzehnrubl FA, Jeske I, Müller D, Buslei R, Coras R, Hahnen E, Huttner HB, Corbeil D, Kaesbauer J, Appl T, von Hörsten S, Blümcke I
      Spontaneous In Vitro Transformation of Adult Neural Precursors into Stem-Like Cancer Cells
      Brain Pathol. 2009;19(3):399-408
      [PubMed] PMID: 18637011
      

  22. Neidhardt J, Glaus E, Lorenz B, Netzer C, Li Y, Schambeck M, Wittmer M, Feil S, Kirschner-Schwabe R, Rosenberg T, Cremers FP, Bergen AA, Barthelmes D, Baraki H, Schmid F, Tanner G, Fleischhauer J, Orth U, Becker C, Wegscheider E, Nürnberg G, Nürnberg P, Bolz HJ, Gal A, Berger W
      Identification of novel mutations in X-linked retinitis pigmentosa families and implications for diagnostic testing
      Mol Vis. 2008;14:1081-93
      [PubMed] PMID: 18552978
      

  23. Netzer C, Freudenberg J, Heinze A, Heinze-Kuhn K, Goebel I, McCarthy LC, Roses AD, Göbel H, Todt U, Kubisch C
      Replication study of the insulin receptor gene in migraine with aura
      Genomics. 2008;91(6):503-7
      [PubMed] PMID: 18455362
      

  24. Nyholt DR, Laforge KS, Kallela M, Alakurtti K, Anttila V, Färkkilä M, Hämaläinen E, Kaprio J, Kaunisto MA, Heath AC, Montgomery GW, Göbel H, Todt U, Ferrari MD, Launer LJ, Frants RR, Terwindt GM, de Vries B, Verschuren WM, Brand J, Freilinger T, Pfaffenrath V, Straube A, Ballinger DG, Zhan Y, Daly MJ, Cox DR, Dichgans M, van den Maagdenberg AM, Kubisch C, Martin NG, Wessman M, Peltonen L, Palotie A
      A high-density association screen of 155 ion transport genes for involvement with common migraine
      Hum Mol Genet. 2008;17(21):3318-31
      [PubMed] PMID: 18676988
      

  25. Seufert S, Coras R, Tränkle C, Zlotos DP, Blümcke I, Tatenhorst L, Heneka MT, Hahnen E
      PPAR Gamma Activators: Off-Target Against Glioma Cell Migration and Brain Invasion
      PPAR Res. 2008;2008:513946
      [PubMed] PMID: 18815619
      

  26. Boulouiz R, Li Y, Soualhine H, Abidi O, Chafik A, Nürnberg G, Becker C, Nürnberg P, Kubisch C, Wollnik B, Barakat A
      A novel mutation in the Espin gene causes autosomal recessive nonsyndromic hearing loss but no apparent vestibular dysfunction in a Moroccan family
      Am J Med Genet A. 2008;146A(23):3086-9
      [PubMed] PMID: 18973245
      

  27. Sajjad N, Goebel I, Kakar N, Cheema AM, Kubisch C, Ahmad J
      A novel HSF4 gene mutation (p.R405X) causing autosomal recessive congenital cataracts in a large consanguineous family from Pakistan
      BMC Med Genet. 2008;9:102
      [PubMed] PMID: 19014451
      

• 2009

  1. Nahum S, Pasternack SM, Pforr J, Indelman M, Wollnik B, Bergman R, Nöthen MM, König A, Khamaysi Z, Betz RC, Sprecher E
     A large duplication in LIPH underlies autosomal recessive hypotrichosis simplex in four Middle Eastern families
     Arch Dermatol Res. 2009;301(5):391-3
     [PubMed] PMID: 18820939
     

  2. Hauke J, Riessland M, Lunke S, Eyüpoglu IY, Blümcke I, El-Osta A, Wirth B, Hahnen E
     Survival Motor Neuron Gene 2 Silencing by DNA Methylation Correlates with Spinal Muscular Atrophy Disease Severity and can be Bypassed by Histone Deacetylase Inhibition
     Hum Mol Genet. 2009;18(2):304-17
     [PubMed] PMID: 18971205
     [Abstract at Oxford Journals/Human Molecular Genetics]

  3. Kobow K, Jeske I, Hildebrandt M, Hauke J, Hahnen E, Buslei R, Buchfelder M, Weigel D, Stefan H, Kasper B, Pauli E, Blümcke I
     Increased Reelin promoter methylation in temporal lobe epilepsy
     J Neuropathol Exp Neurol. 2009;68(4):356-64
     [PubMed] PMID: 19287316
     

  4. Ebermann I, Koenekoop RK, Lopez I, Bou-Khzam L, Pigeon R, Bolz HJ
     An USH2A founder mutation is the major cause of Usher syndrome type 2 in Canadians of French origin and confirms common roots of Quebecois and Acadians
     Eur J Hum Genet. 2009;17(1):80-4
     [PubMed] PMID: 18665195
     

  5. Todt U, Netzer C, Toliat M, Heinze A, Goebel I, Nürnberg P, Göbel H, Freudenberg J, Kubisch C
     New genetic evidence for involvement of the dopamine system in migraine with aura
     Hum Genet. 2009 Apr;125(3):265-79
     [PubMed] PMID: 19152006
     

  6. Tikka-Kleemola P, Kaunisto MA, Hämäläinen E, Todt U, Göbel H, Kaprio J, Kubisch C, Färkkilä M, Palotie A, Wessman M, Kallela M
     Genetic association study of Endothelin-1 and its receptors EDNRA and EDNRB in migraine with aura
     Cephalalgia. 2009;29:1224-31
     [PubMed] PMID: 19558538
     

  7. Kuhn J, Brümmendorf TH, Brassat U, Lehnhardt FG, Chung BD, Harnier S, Bewermeyer H, Harzheim A, Assheuer J, Netzer C
     Novel KRIT1 mutation and no molecular evidence of anticipation in a family with cerebral and spinal cavernous malformations
     Eur Neurol. 2009;61(3):154-8
     [PubMed] PMID: 19092252
     

  8. Chung BD, Kayserili H, Ai M, Freudenberg J, Uzümcü A, Uyguner O, Bartels CF, Höning S, Ramirez A, Hanisch FG, Nürnberg G, Nürnberg P, Warman ML, Wollnik B, Kubisch C, Netzer C
     A mutation in the signal sequence of LRP5 in a family with an osteoporosis-pseudoglioma syndrome (OPPG)-like phenotype indicates a novel disease mechanism for trinucleotide repeats
     Hum Mutat. 2009;30(4):641-8
     [PubMed] PMID: 19177549
     

  9. Charbel Issa P, Bolz HJ, Ebermann I, Domeier E, Holz FG, Scholl HP
     Characterisation of severe rod-cone dystrophy in a consanguineous family with a splice site mutation in the MERTK gene
     Br J Ophthalmol. 2009;93(7):920-5
     [PubMed] PMID: 19403518
     

  10. Ebermann I, Wiesen MH, Zrenner E, Lopez I, Pigeon R, Kohl S, Löwenheim H, Koenekoop RK, Bolz HJ
      GPR98 mutations cause Usher syndrome type 2 in males
      J Med Genet. 2009;46(4):277-80
      [PubMed] PMID: 19357117
      

  11. Mégarbané A, Slim R, Nürnberg G, Ebermann I, Nürnberg P, Bolz HJ
      A novel VPS13B mutation in two brothers with Cohen syndrome, cutis verticis gyrata and sensorineural deafness
      Eur J Hum Genet. 2009;17(8):1076-12
      [PubMed] PMID: 19190672
      

  12. Li Y, Pabst S, Lokhande S, Grohé C, Wollnik B
      Extended genetic analysis of BTNL2 in sarcoidosis
      Tissue Antigens. 2009;73(1):59-61
      [PubMed] PMID: 19140834
      

  13. Durmaz B, Wollnik B, Cogulu O, Li Y, Tekgul H, Hazan F, Ozkinay F
      Pontocerebellar hypoplasia type III (CLAM): extended phenotype and novel molecular findings
      J Neurol. 2009;256(3):416-9
      [PubMed] PMID: 19277761
      

  14. Rakovic A, Stiller B, Djarmati A, Flaquer A, Freudenberg J, Toliat MR, Linnebank M, Kostic V, Lohmann K, Paus S, Nürnberg P, Kubisch C, Klein C, Wüllner U, Ramirez A
      Genetic association study of the P-type ATPase ATP13A2 in late-onset Parkinson's disease
      Mov Disord. 2009;24(3):429-33
      [PubMed] PMID: 19097176
      

  15. Schmidt K, Wolfe DM, Stiller B, Pearce DA
      Cd2+, Mn2+, Ni2+ and Se2+ toxicity to Saccharomyces cerevisiae lacking YPK9p the orthologue of human ATP13A2
      Biochem Biophys Res Commun. 2009;383(2):198-202
      [PubMed] PMID: 19345671
      

  16. Netzer C, Klein C, Kohlhase J, Kubisch C
      New challenges for informed consent through whole genome array testing
      J Med Genet. 2009;46(7):495-6
      [PubMed] PMID: 19571117
      

  17. Miró X, Zhou X, Boretius S, Michaelis T, Kubisch C, Alvarez-Bolado G, Gruss P
      Haploinsufficiency of the murine polycomb gene Suz12 results in diverse malformations of the brain and neural tube
      Dis Model Mech. 2009;2(7-8):412-8
      [PubMed] PMID: 19535498
      

  18. Kubisch C
      Chromosomal microdeletions: minor imbalances with major consequences
      Neurology. 2009;72(9):782-3
      [PubMed] PMID: 19073943
      

  19. Borck G, Seewi O, Jung A, Schönau E, Kubisch C
      Genetic causes of goiter and deafness: Pendred syndrome in a girl and cooccurrence of Pendred syndrome and resistance to thyroid hormone in her sister
      J Clin Endocrinol Metab. 2009;94(6):2106-9
      [PubMed] PMID: 19318451
      

  20. Schoser B, Jacob S, Hilton-Jones D, Müller-Felber W, Kubisch C, Claus D, Goebel HH, Vita G, Vincent A, Toscano A, Van den Bergh P
      Immune-mediated rippling muscle disease with myasthenia gravis: a report of seven patients with long-term follow-up in two
      Neuromuscul Disord. 2009;19(3):223-8
      [PubMed] PMID: 19208478
      

  21. Schmitz D, Netzer C, Henn W
      An offer you can't refuse? Ethical implications of non-invasive prenatal diagnosis
      Nat Rev Genet. 2009;10(8):515
      [PubMed] PMID: 19546855
      

  22. Bolz HJ
      Genetics of Usher syndrome
      Ophthalmologe. 2009;106(6):496-504
      [PubMed] PMID: 19495774
      

  23. Savaskan NE, Hahnen E, Eyüpoglu IY
      The x(c)(-) cystine/glutamate antiporter (xCT) as a potential target for therapy of cancer: yet another cytotoxic anticancer approach?
      J Cell Physiol. 2009;220(2):531-2
      [PubMed] PMID: 19415694
      

  24. Garbes L, Riessland M, Hölker I, Heller R, Hauke J, Tränkle C, Coras R, Blümcke I, Hahnen E, Wirth B
      LBH589 induces up to 10-fold SMN protein levels by several independent mechanisms and is effective even in cells from SMA patients non-responsive to valproate
      Hum Mol Genet. 2009 Oct 1;18(19):3645-58. Epub 2009 Jul 7
      [PubMed] PMID: 19584083
      

  25. Engelhorn T, Savaskan NE, Schwarz MA, Kreutzer J, Meyer EP, Hahnen E, Ganslandt O, Dörfler A, Nimsky C, Buchfelder M, Eyüpoglu IY
      Cellular characterization of the peritumoral edema zone in malignant brain tumors
      Cancer Sci. 2009t;100(10):1856-62
      [PubMed] PMID: 19681905
      

  26. Reversade B, Escande-Beillard N, Dimopoulou A, Fischer B, Chng SC, Li Y, Shboul M, Tham PY, Kayserili H, Al-Gazali L, Shahwan M, Brancati F, Lee H, O'Connor BD, Schmidt-von Kegler M, Merriman B, Nelson SF, Masri A, Alkazaleh F, Guerra D, Ferrari P, Nanda A, Rajab A, Markie D, Gray M, Nelson J, Grix A, Sommer A, Savarirayan R, Janecke AR, Steichen E, Sillence D, Hausser I, Budde B, Nürnberg G, Nürnberg P, Seemann P, Kunkel D, Zambruno G, Dallapiccola B, Schuelke M, Robertson S, Hamamy H, Wollnik B, Van Maldergem L, Mundlos S, Kornak U
      Mutations in PYCR1 cause cutis laxa with progeroid features
      Nat Genet. 2009;41(9):1016-21
      [PubMed] PMID: 19648921
      

  27. Djarmati A, Hagenah J, Reetz K, Winkler S, Behrens MI, Pawlack H, Lohmann K, Ramirez A, Tadić V, Brüggemann N, Berg D, Siebner HR, Lang AE, Pramstaller PP, Binkofski F, Kostić VS, Volkmann J, Gasser T, Klein C
      ATP13A2 variants in early-onset Parkinson's disease patients and controls
      Mov Disord. 2009;24(14):2104-11
      [PubMed] PMID: 19705361
      

  28. Valencia M, Lapunzina P, Lim D, Zannolli R, Bartholdi D, Wollnik B, Al-Ajlouni O, Eid SS, Cox H, Buoni S, Hayek J, Martinez-Frias ML, Antonio PA, Temtamy S, Aglan M, Goodship JA, Ruiz-Perez VL
      Widening the mutation spectrum of EVC and EVC2: ectopic expression of Weyer variants in NIH 3T3 fibroblasts disrupts Hedgehog signaling
      Hum Mutat. 2009;30(12):1667-75
      [PubMed] PMID: 19810119
      

  29. Kayserili H, Uz E, Niessen C, Vargel I, Alanay Y, Tuncbilek G, Yigit G, Uyguner O, Candan S, Okur H, Kaygin S, Balci S, Mavili E, Alikasifoglu M, Haase I, Wollnik B, Akarsu NA
      ALX4 dysfunction disrupts craniofacial and epidermal development
      Hum Mol Genet. 2009;18(22):4357-66
      [PubMed] PMID: 19692347
      

  30. Rudnik-Schöneborn S, Berg C, Zerres K, Betzler C, Grimm T, Eggermann T, Eggermann K, Wirth R, Wirth B, Heller R
      Genotype-phenotype studies in infantile spinal muscular atrophy (SMA) type I in Germany: implications for clinical trials and genetic counselling
      Clin Genet. 2009;76(2):168-78
      [PubMed] PMID: 19780763
      

  31. Karsak M, Malkin I, Toliat MR, Kubisch C, Nürnberg P, Zimmer A, Livshits G
      The cannabinoid receptor type 2 (CNR2) gene is associated with hand bone strength phenotypes in an ethnically homogeneous family sample
      Hum Genet. 2009;126(5):629-36
      [PubMed] PMID: 19565271
      

  32. Saadi A, Borck G, Boddaert N, Chekkour MC, Imessaoudene B, Munnich A, Colleaux L, Chaouch M
      Compound heterozygous ASPM mutations associated with microcephaly and simplified cortical gyration in a consanguineous Algerian family
      Eur J Med Genet. 2009;52(4):180-4
      [PubMed] PMID: 19332161
      

  33. Krones T, Schmitz D, Heen W, Netzer C
      Das neue Gendiagnostikgesetz. Implikationen für die Beratung von Schwangeren zur vorgeburtlichen Diagnostik
      Ethik Med. 2009; 21: 333-40
      Abstract , Full Text (PDF)

  34. Schmitz D, Henn W, Netzer C
      Commentary: No risk, no objections? Ethical pitfalls of cell-free fetal DNA and RNA testing
      BMJ. 2009;339:b2690
      [PubMed] PMID: 19581325
      

  35. Siebzehnrubl FA, Jeske I, Müller D, Buslei R, Coras R, Hahnen E, Huttner HB, Corbeil D, Kaesbauer J, Appl T, von Hörsten S, Blümcke I
      Spontaneous in vitro transformation of adult neural precursors into stem-like cancer cells
      Brain Pathol. 2009;19(3):399-408
      [PubMed] PMID: 18637011
      

  36. Bchetnia M, Charfeddine C, Kassar S, Hanchi I, Tounsi-Guettiti H, Rebai A, Osman AD, Kubisch C, Abdelhak S, Boubaker S, Mokni M
      Clinical, histological and genetic investigation of Buschke-Fischer-Brauer's disease in Tunisian families
      J Dermatol Sci. 2009;54(1): 54-6
      [PubMed] PMID: 19136236
      

  37. Elçioglu NH, Pawlik B, Colak B, Beck M, Wollnik B
      A novel loss-of-function mutation in the GNS gene causes Sanfilippo syndrome type D
      Genet Couns. 2009;20(2):133-9
      [PubMed] PMID: 19650410
      

• 2010

  1. Wieczorek D, Pawlik B, Li Y, Akarsu NA, Caliebe A, May KJ, Schweiger B, Vargas FR, Balci S, Gillessen-Kaesbach G, Wollnik B
     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
     Hum Mutat. 2010;31(1):81-9
     [PubMed] PMID: 19847792
     

  2. Pawlik B, Mir A, Iqbal H, Li Y, Nürnberg G, Becker C, Qamar R, Nürnberg P, Wollnik B
     A Novel Familial BBS12 Mutation Associated with a Mild Phenotype: Implications for Clinical and Molecular Diagnostic Strategies
     Mol Syndromol. 2010 Feb;1(1):27-34. Epub 2010 Jan 15.
     [PubMed] PMID: 20648243
     

  3. Riessland M, Ackermann B, Förster A, Jakubik M, Hauke J, Garbes L, Fritzsche I, Mende Y, Blümcke I, Hahnen E, Wirth B
     SAHA ameliorates the SMA phenotype in two mouse models for spinal muscular atrophy
     Hum Mol Genet. 2010 Apr 15;19(8):1492-506. Epub 2010 Jan 22
     [PubMed] PMID: 20097677
     

  4. Michaud M, Arnoux T, Bielli S, Durand E, Rotrou Y, Jablonka S, Robert F, Giraudon-Paoli M, Riessland M, Mattei MG, Andriambeloson E, Wirth B, Sendtner M, Gallego J, Pruss RM, Bordet T
     Neuromuscular defects and breathing disorders in a new mouse model of spinal muscular atrophy
     Neurobiol Dis. 2010;38(1):125-135
     [PubMed] PMID: 20085811
     

  5. Zaucke F, Boehnlein JM, Steffens S, Polishchuk RS, Rampoldi L, Fischer A, Pasch A, Boehm CW, Baasner A, Attanasio M, Hoppe B, Hopfer H, Beck BB, Sayer JA, Hildebrandt F, Wolf MT
     Uromodulin is expressed in renal primary cilia and UMOD mutations result in decreased ciliary Uromodulin expression
     Hum Mol Genet. 2010 May 15;19(10):1985-97. Epub 2010 Feb 18
     [PubMed] PMID: 20172860
     

  6. Li Y, Pohl E, Boulouiz R, Schraders M, Nürnberg G, Charif M, Admiraal RJ, von Ameln S, Baessmann I, Kandil M, Veltman JA, Nürnberg P, Kubisch C, Barakat A, Kremer H, Wollnik B
     Mutations in TPRN Cause a Progressive Form of Autosomal-Recessive Nonsyndromic Hearing Loss
     Am J Hum Genet. 2010 Mar 12;86(3):479-84. Epub 2010 Feb 18.
     [PubMed] PMID: 20170898
     

  7. Mende Y, Jakubik M, Riessland M, Schoenen F, Roßbach K, Kleinridders A, Köhler C, Buch T, Wirth B
     Deficiency of the splicing factor Sfrs10 results in early embryonic lethality in mice and has no impact on full-length SMN/Smn splicing
     Hum Mol Genet. 2010 Jun 1;19(11):2154-67. Epub 2010 Feb 27
     [PubMed] PMID: 20190275
     

  8. Fourcade S, Ruiz M, Guilera C, Hahnen E, Brichta L, Naudi A, Portero-Otín M, Dacremont G, Cartier N, Wanders R, Kemp S, Mandel JL, Wirth B, Pamplona R, Aubourg P, Pujol A
     Valproic acid induces antioxidant effects in X-linked adrenoleukodystrophy
     Hum Mol Genet. 2010 May 15;19(10):2005-14. Epub 2010 Feb 23
     [PubMed] PMID: 20179078
     

  9. Striessnig J, Bolz HJ, Koschak A
     Channelopathies in Ca(v)1.1, Ca (v)1.3, and Ca (v)1.4 voltage-gated L-type Ca (2+) channels
     Pflugers Arch. 2010 Jul;460(2):361-74. Epub 2010 Mar 7
     [PubMed] PMID: 20213496
     

  10. Aller E, Jaijo T, van Wijk E, Ebermann I, Kersten F, García-García G, Voesenek K, Aparisi MJ, Hoefsloot L, Cremers C, Díaz-Llopis M, Pennings R, Bolz HJ, Kremer H, Millán JM
      Sequence variants of the DFNB31 gene among Usher syndrome patients of diverse origin
      Mol Vis. 2010 Mar 23;16:495-500
      [PubMed] PMID: 20352026
      [Full Text]

  11. Wilch E, Azaiez H, Fisher RA, Elfenbein J, Murgia A, Birkenhäger R, Bolz H, da Silva-Costa SM, Del Castillo I, Haaf T, Hoefsloot L, Kremer H, Kubisch C, Le Marechal C, Pandya A, Sartorato EL, Schneider E, Van Camp G, Wuyts W, Smith RJ, Friderici KH
      A novel DFNB1 deletion allele supports the existence of a distant cis-regulatory region that controls GJB2 and GJB6 expression
      Clin Genet. 2010 Sep;78(3):267-74. Epub 2010 Mar 1.
      [PubMed] PMID: 20236118
      

  12. Behrens MI, Brüggemann N, Chana P, Venegas P, Kägi M, Parrao T, Orellana P, Garrido C, Rojas CV, Hauke J, Hahnen E, González R, Seleme N, Fernández V, Schmidt A, Binkofski F, Kömpf D, Kubisch C, Hagenah J, Klein C, Ramirez A.
      Clinical spectrum of Kufor-Rakeb syndrome in the Chilean kindred with ATP13A2 mutations
      Mov Disord. 2010 Sep 15;25(12):1929-37
      [PubMed] PMID: 20683840
      

  13. Coras R, Siebzehnrubl FA, Pauli E, Huttner HB, Njunting M, Kobow K, Villmann C, Hahnen E, Neuhuber W, Weigel D, Buchfelder M, Stefan H, Beck H, Steindler DA, Blümcke I
      Low proliferation and differentiation capacities of adult hippocampal stem cells correlate with memory dysfunction in humans
      Brain. 2010 Nov;133(11):3359-72. Epub 2010 Aug 18
      [PubMed] PMID: 20719879
      

  14. Anttila V, Stefansson H, Kallela M, Todt U, Terwindt GM, Calafato MS, Nyholt DR, Dimas AS, Freilinger T, Müller-Myhsok B, Artto V, Inouye M, Alakurtti K, Kaunisto MA, Hämäläinen E, de Vries B, Stam AH, Weller CM, Heinze A, Heinze-Kuhn K, Goebel I, Borck G, Göbel H, Steinberg S, Wolf C, Björnsson A, Gudmundsson G, Kirchmann M, Hauge A, Werge T, Schoenen J, Eriksson JG, Hagen K, Stovner L, Wichmann HE, Meitinger T, Alexander M, Moebus S, Schreiber S, Aulchenko YS, Breteler MM, Uitterlinden AG, Hofman A, van Duijn CM, Tikka-Kleemola P, Vepsäläinen S, Lucae S, Tozzi F, Muglia P, Barrett J, Kaprio J, Färkkilä M, Peltonen L, Stefansson K, Zwart JA, Ferrari MD, Olesen J, Daly M, Wessman M, van den Maagdenberg AM, Dichgans M, Kubisch C, Dermitzakis ET, Frants RR, Palotie A; International Headache Genetics Consortium
      Genome-wide association study of migraine implicates a common susceptibility variant on 8q22.1
      Nat Genet. 2010 Oct;42(10):869-73. Epub 2010 Aug 29
      [PubMed] PMID: 20802479
      Press release of the University
      Full Text

  15. Borck G, Beighton P, Wilhelm C, Kohlhase J, Kubisch C
      Arterial rupture in classic Ehlers-Danlos syndrome with COL5A1 mutation
      Am J Med Genet A. 2010 Aug;152A(8):2090-3
      [PubMed] PMID: 20635400
      

  16. Simon T, Feldkötter M, Buiting K, Ortmann M, Bolz H, Körber F
      Slow progression of a small Wilms' tumor
      Klin Padiatr. 2010 May;222(3):190-1. Epub 2010 May 31.
      [PubMed] PMID: 20514626
      

  17. Ebermann I, Phillips JB, Liebau MC, Koenekoop RK, Schermer B, Lopez I, Schäfer E, Roux AF, Dafinger C, Bernd A, Zrenner E, Claustres M, Blanco B, Nürnberg G, Nürnberg P, Ruland R, Westerfield M, Benzing T, Bolz HJ
      PDZD7 is a modifier of retinal disease and a contributor to digenic Usher syndrome
      J Clin Invest. 2010 Jun 1;120(6):1812-23. doi: 10.1172/JCI39715. Epub 2010 May 3.
      [PubMed] PMID: 20440071
      

  18. Volk AE, Fricke J, Strobl J, Kolling G, Kubisch C, Neugebauer A
      Analysis of the CHN1 gene in patients with various types of congenital ocular motility disorders
      Graefes Arch Clin Exp Ophthalmol. 2010 Sep;248(9):1351-7. Epub 2010 Jun 10.
      [PubMed] PMID: 20535495
      

  19. Karner CM, Dietrich MF, Johnson EB, Kappesser N, Tennert C, Percin F, Wollnik B, Carroll TJ, Herz J
      Lrp4 regulates initiation of ureteric budding and is crucial for kidney formation--a mouse model for Cenani-Lenz syndrome
      PLoS One. 2010 Apr 29;5(4):e10418.
      [PubMed] PMID: 20454682
      

  20. Li Y, Pabst S, Kubisch C, Grohé C, Wollnik B
      First independent replication study confirms the strong genetic association of ANXA11 with sarcoidosis
      Thorax. 2010 Oct;65(10):939-40. Epub 2010 Aug 30
      [PubMed] PMID: 20805159
      

  21. 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
      LRP4 mutations alter Wnt/beta-catenin signaling and cause limb and kidney malformations in Cenani-Lenz syndrome
      Am J Hum Genet. 2010 May 14;86(5):696-706. Epub 2010 Apr 8.
      [PubMed] PMID: 20381006
      

  22. Uz E, Alanay Y, Aktas D, Vargel I, Gucer S, Tuncbilek G, von Eggeling F, Yilmaz E, Deren O, Posorski N, Ozdag H, Liehr T, Balci S, Alikasifoglu M, Wollnik B, Akarsu NA
      Disruption of ALX1 causes extreme microphthalmia and severe facial clefting: expanding the spectrum of autosomal-recessive ALX-related frontonasal dysplasia
      Am J Hum Genet. 2010 May 14;86(5):789-96. Epub 2010 May 6.
      [PubMed] PMID: 20451171
      

  23. Saha B, Lessel D, Hisama FM, Leistritz DF, Friedrich K, Martin GM, Kubisch C, Oshima J
      A Novel LMNA Mutation Causes Altered Nuclear Morphology and Symptoms of Familial Partial Lipodystrophy (Dunnigan Variety) with Progeroid Features
      Mol Syndromol. 2010 Sep;1(3):127-132. Epub 2010 Sep 14
      [PubMed] PMID: 21031082
      

  24. Friedrich K, Lee L, Leistritz DF, Nürnberg G, Saha B, Hisama FM, Eyman DK, Lessel D, Nürnberg P, Li C, Garcia-F-Villalta MJ, Kets CM, Schmidtke J, Cruz VT, Van den Akker PC, Boak J, Peter D, Compoginis G, Cefle K, Ozturk S, López N, Wessel T, Poot M, Ippel PF, Groff-Kellermann B, Hoehn H, Martin GM, Kubisch C, Oshima J
      WRN mutations in Werner syndrome patients: genomic rearrangements, unusual intronic mutations and ethnic-specific alterations
      Hum Genet. 2010 Jul;128(1):103-11. Epub 2010 May 5.
      [PubMed] PMID: 20443122
      

  25. Wollnik B
      A common mechanism for microcephaly
      Nat Genet. 2010 Nov;42(11):923-4
      [PubMed] PMID: 20980985
      

  26. Karner CM, Dietrich MF, Johnson EB, Kappesser N, Tennert C, Percin F, Wollnik B, Carroll TJ, Herz J
      Lrp4 regulates initiation of ureteric budding and is crucial for kidney formation--a mouse model for Cenani-Lenz syndrome
      PLoS One. 2010 Apr 29;5(4):e10418
      [PubMed] PMID: 20454682
      

  27. 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.
      Temtamy preaxial brachydactyly syndrome is caused by loss-of-function mutations in chondroitin synthase 1, a potential target of BMP signaling.
      Am J Hum Genet. 2010;87(6):757-67.
      [PubMed] PMID: 21129728
      

  28. Schild AM, Fricke J, Herkenrath P, Bolz H, Neugebauer A.
      Neuro-ophthalmological and ophthalmological findings in Joubert syndrome.
      Klin Monbl Augenheilkd. 2010 Oct;227(10):786-91.
      [PubMed] PMID: 20963681
      

• 2011

  1. Linder B, Dill H, Hirmer A, Brocher J, Lee GP, Mathavan S, Bolz HJ, Winkler C, Laggerbauer B, Fischer U.
     Systemic splicing factor deficiency causes tissue-specific defects: a zebrafish model for retinitis pigmentosa.
     Hum Mol Genet. 2011 Jan 15;20(2):368-77. Epub 2010 Nov 3.
     [PubMed] PMID: 21051334
     

  2. Kalay E, Yigit G, Aslan Y, Brown KE, Pohl E, Bicknell LS, Kayserili H, Li Y, Tüysüz B, Nürnberg G, Kiess W, Koegl M, Baessmann I, Buruk K, Toraman B, Kayipmaz S, Kul S, Ikbal M, Turner DJ, Taylor MS, Aerts J, Scott C, Milstein K, Dollfus H, Wieczorek D, Brunner HG, Hurles M, Jackson AP, Rauch A, Nürnberg P, Karagüzel A, Wollnik B.
     CEP152 is a genome maintenance protein disrupted in Seckel syndrome.
     Nat Genet. 2011 Jan;43(1):23-6. Epub 2010 Dec 5.
     [PubMed] PMID: 21131973
     

  3. Borck G, Wunram H, Steiert A, Volk AE, Körber F, Roters S, Herkenrath P, Wollnik B, Morris-Rosendahl DJ, Kubisch C
     A homozygous RAB3GAP2 mutation causes Warburg Micro syndrome
     Hum Genet. 2011 Jan;129(1):45-50. Epub 2010 Oct 22.
     [PubMed] PMID: 20967465
     

  4. Baig SM, Koschak A, Lieb A, Gebhart M, Dafinger C, Nürnberg G, Ali A, Ahmad I, Sinnegger-Brauns MJ, Brandt N, Engel J, Mangoni ME, Farooq M, Khan HU, Nürnberg P, Striessnig J, Bolz HJ.
     Loss of Ca(v)1.3 (CACNA1D) function in a human channelopathy with bradycardia and congenital deafness.
     Nat Neurosci. 2010
     [PubMed] PMID: 21131953
     Abstract at Nature Neuroscience Online

  5. Savaskan NE, Seufert S, Hauke J, Tränkle C, Eyüpoglu IY, Hahnen E
     Dissection of mitogenic and neurodegenerative actions of cystine and glutamate in malignant gliomas
     Oncogene. 2011 Jan 6;30(1):43-53. Epub 2010 Aug 30.
     [PubMed] PMID: 20802520
     

  6. Borck G, Ur Rehman A, Lee K, Pogoda HM, Kakar N, von Ameln S, Grillet N, Hildebrand MS, Ahmed ZM, Nürnberg G, Ansar M, Basit S, Javed Q, Morell RJ, Nasreen N, Shearer AE, Ahmad A, Kahrizi K, Shaikh RS, Ali RA, Khan SN, Goebel I, Meyer NC, Kimberling WJ, Webster JA, Stephan DA, Schiller MR, Bahlo M, Najmabadi H, Gillespie PG, Nürnberg P, Wollnik B, Riazuddin S, Smith RJ, Ahmad W, Müller U, Hammerschmidt M, Friedman TB, Riazuddin S, Leal SM, Ahmad J, Kubisch C..
     Loss-of-function mutations of ILDR1 cause autosomal-recessive hearing impairment DFNB42.
     Am J Hum Genet. 2011, 88(2):127-37
     [PubMed] PMID: 21255762
     

  7. Frenzel LP, Claus R, Plume N, Schwamb J, Konermann C, Pallasch CP, Claasen J, Brinker R, Wollnik B, Plass C, Wendtner CM
     Sustained NF-kappa B activity in chronic lymphocytic leukemia (CLL) is independent of genetic and epigenetic alterations in the TNFAIP3 (A20) locus
     Int J Cancer. 2011 May 15;128(10):2495-500. doi: 10.1002/ijc.25579.
     [PubMed] PMID: 20669229
     

  8. Kayserili H, Wollnik B, Güven G, Emiroğlu MU, Başerer N, Uyguner ZO.
     A novel homozygous COL11A2 deletion causes a C-terminal protein truncation with incomplete mRNA decay in a Turkish patient.
     Am J Med Genet A. 2011 Jan;155A(1):180-5.
     [PubMed] PMID: 21204229
     

  9. Becker J, Semler O, Gilissen C, Li Y, Bolz HJ, Giunta C, Bergmann C, Rohrbach M, Koerber F, Zimmermann K, de Vries P, Wirth B, Schoenau E, Wollnik B, Veltman JA, Hoischen A, Netzer C.
     Exome sequencing identifies truncating mutations in human SERPINF1 in autosomal-recessive osteogenesis imperfecta.
     Am J Hum Genet. 2011, 88:362-71.
     [PubMed] PMID: 21353196
     

  10. 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.
      A mutation screen in patients with Kabuki syndrome.
      Hum Genet. 2011 May 24.
      [PubMed] PMID: 21607748
      

  11. Gal A, Rau I, El Matri L, Kreienkamp HJ, Fehr S, Baklouti K, Chouchane I, Li Y, Rehbein M, Fuchs J, Fledelius HC, Vilhelmsen K, Schorderet DF, Munier FL, Ostergaard E, Thompson DA, Rosenberg T.
      Autosomal-recessive posterior microphthalmos is caused by mutations in PRSS56, a gene encoding a trypsin-like serine protease.
      Am J Hum Genet. 2011 Mar 11;88(3):382-90.
      [PubMed] PMID: 21397065
      

  12. Sankaran VG, Menne J, Heller R.
      Heterozygous disruption of human SOX6 is insufficient to impair erythropoiesis or silencing of fetal hemoglobin.
      Blood. 2011 Apr 21;117(16):4396-7
      [PubMed] PMID: 21511965
      

  13. Gripp KW, Hopkins E, Sol-Church K, Stabley DL, Axelrad ME, Doyle D, Dobyns WB, Hudson C, Johnson J, Tenconi R, Graham GE, Sousa AB, Heller R, Piccione M, Corsello G, Herman GE, Tartaglia M, Lin AE.
      Phenotypic analysis of individuals with Costello syndrome due to HRAS p.G13C.
      Am J Med Genet A. 2011 Apr;155(4):706-16
      [PubMed] PMID: 21438134
      

  14. Hoffmann K, Heller R.
      Uniparental disomies 7 and 14.
      Best Pract Res Clin Endocrinol Metab. 2011 Feb;25(1):77-100
      [PubMed] PMID: 21396576
      

  15. Dafinger C, Liebau MC, Elsayed SM, Hellenbroich Y, Boltshauser E, Korenke GC, Fabretti F, Janecke AR, Ebermann I, Nürnberg G, Nürnberg P, Zentgraf H, Koerber F, Addicks K, Elsobky E, Benzing T, Schermer B, Bolz HJ.
      Mutations in KIF7 link Joubert syndrome with Sonic Hedgehog signaling and microtubule dynamics.
      J Clin Invest. 2011;121(7):2662-7.
      [PubMed] PMID: 21633164
      

  16. Laine CM, Chung BD, Susic M, Prescott T, Semler O, Fiskerstrand T, D'Eufemia P, Castori M, Pekkinen M, Sochett E, Cole WG, Netzer C, Mäkitie O.
      Novel mutations affecting LRP5 splicing in patients with osteoporosis-pseudoglioma syndrome (OPPG).
      Eur J Hum Genet. 2011 Aug;19(8):875-81. doi: 10.1038/ejhg.2011.42. Epub 2011 Mar 16
      [PubMed] PMID: 21407258
      

  17. Mehler K, Beck BB, Kaul I, Rahimi G, Hoppe B, Kribs A.
      Respiratory and general outcome in neonates with renal oligohydramnios--a single-centre experience.
      Nephrol Dial Transplant. 2011 Nov;26(11):3514-22. Epub 2011 Mar 9
      [PubMed] PMID: 21389070
      

  18. Sushma Grellscheid, Caroline Dalgliesh, Markus Storbeck, Andrew Best, Yilei Liu, Miriam Jakubik, Ylva Mende, Ingrid Ehrmann, Tomaz Curk, Kristina Rossbach, Cyril F. Bourgeois, James Stévenin, David Grellscheid, Michael S. Jackson, Brunhilde Wirth, David J. Elliott
      Identification of Evolutionarily Conserved Exons as Regulated Targets for the Splicing Activator Tra2β in Development
      PLoS Genet 7(12):e1002390.doi:10.1371/journal.pgen.1002390
      [PLoS Genetics: Full Text]

  19. Hoppe B, Dittlich K, Fehrenbach H, Plum G, Beck BB.
      Reduction of plasma oxalate levels by oral application of Oxalobacter formigenes in 2 patients with infantile oxalosis.
      Am J Kidney Dis. 2011 Sep;58(3):453-5. Epub 2011 Jun 25.
      [PubMed] PMID: 21705122
      

  20. Beck BB, Trachtman H, Gitman M, Miller I, Sayer JA, Pannes A, Baasner A, Hildebrandt F, Wolf MT.
      Autosomal dominant mutation in the signal peptide of renin in a kindred with anemia, hyperuricemia, and CKD.
      Am J Kidney Dis. 2011;58(5):821-5.
      [PubMed] PMID: 21903317
      

  21. Mutsaers CA, Wishart TM, Lamont DJ, Riessland M, Schreml J, Comley LH, Murray LM, Parson SH, Lochmüller H, Wirth B, Talbot K, Gillingwater TH.
      Reversible molecular pathology of skeletal muscle in spinal muscular atrophy.
      Hum Mol Genet. 2011;20(22):4334-44.
      [PubMed] PMID: 21840928
      

  22. Park JS, Mehta P, Cooper AA, Veivers D, Heimbach A, Stiller B, Kubisch C, Fung VS, Krainc D, Mackay-Sim A, Sue CM.
      Pathogenic effects of novel mutations in the P-type ATPase ATP13A2 (PARK9) causing Kufor-Rakeb syndrome, a form of early-onset parkinsonism.
      Hum Mutat. 2011 Aug;32(8):956-64. doi: 10.1002/humu.21527. Epub 2011 Jul 12.
      [PubMed] PMID: 21542062
      

  23. Bolz HJ, Roux AF.
      Clinical utility gene card for: Usher syndrome.
      Eur J Hum Genet. 2011 Aug;19(8). doi: 10.1038/ejhg.2011.15. Epub 2011 Mar 9.
      [PubMed] PMID: 21697857
      

  24. Ugolino J, Fang S, Kubisch C, Monteiro MJ.
      Mutant Atp13a2 proteins involved in parkinsonism are degraded by ER-associated degradation and sensitize cells to ER-stress induced cell death.
      Hum Mol Genet. 2011 Sep 15;20(18):3565-77. Epub 2011 Jun 10.
      [PubMed] PMID: 21665991
      

  25. Volk AE, Carter O, Fricke J, Herkenrath P, Poggenborg J, Borck G, Demant AW, Ivo R, Eysel P, Kubisch C, Neugebauer A.
      Horizontal gaze palsy with progressive scoliosis: three novel ROBO3 mutations and descriptions of the phenotypes of four patients.
      Mol Vis. 2011;17:1978-86. Epub 2011 Jul 20.
      [PubMed] PMID: 21850172
      

  26. Laue K, Pogoda HM, Daniel PB, van Haeringen A, Alanay Y, von Ameln S, Rachwalski M, Morgan T, Gray MJ, Breuning MH, Sawyer GM, Sutherland-Smith AJ, Nikkels PG, Kubisch C, Bloch W, Wollnik B, Hammerschmidt M, Robertson SP.
      Craniosynostosis and multiple skeletal anomalies in humans and zebrafish result from a defect in the localized degradation of retinoic acid.
      Am J Hum Genet. 2011;89(5):595-606.
      [PubMed] PMID: 22019272
      

  27. Hofmann K, Becker J, Heller R, Boute O, Andrieux J, Hoyer J, Ekici AB, Reis A, Rauch A.
      7 Mb de novo deletion within 8q21 in a patient with distal arthrogryposis type 2B (DA2B).
      Eur J Med Genet. 2011 Sep-Oct;54(5):e495-500. doi: 10.1016/j.ejmg.2011.06.002. Epub 2011 Jun 21.
      [PubMed] PMID: 21722758
      

  28. Ahmad A, Daud S, Kakar N, Nürnberg G, Nürnberg P, Babar ME, Thoenes M, Kubisch C, Ahmad J, Bolz HJ.
      Identification of a novel LCA5 mutation in a Pakistani family with Leber congenital amaurosis and cataracts.
      Mol Vis. 2011;17:1940-5. Epub 2011 Jul 16.
      [PubMed] PMID: 21850168
      

  29. Habbig S, Beck BB, Hoppe B.
      Nephrocalcinosis and urolithiasis in children.
      Kidney Int. 2011 Dec;80(12):1278-91. doi: 10.1038/ki.2011.336. Epub 2011 Sep 28.
      [PubMed] PMID: 21956187
      

  30. Gross O, Licht C, Anders HJ, Hoppe B, Beck B, Tönshoff B, Höcker B, Wygoda S, Ehrich JH, Pape L, Konrad M, Rascher W, Dötsch J, Müller-Wiefel DE, Hoyer P; and Study Group Members of the Gesellschaft für Pädiatrische Nephrologie (GPN), Knebelmann B, Pirson Y, Grunfeld JP, Niaudet P, Cochat P, Heidet L, Lebbah S, Torra R, Friede T, Lange K, Müller GA, Weber M.
      Early angiotensin-converting enzyme inhibition in Alport syndrome delays renal failure and improves life expectancy.
      Kidney Int. 2012 Mar;81(5):494-501. doi: 10.1038/ki.2011.407. Epub 2011 Dec 14.
      [PubMed] PMID: 22166847
      

  31. Nölle A, Zeug A, van Bergeijk J, Tönges L, Gerhard R, Brinkmann H, Al Rayes S, Hensel N, Schill Y, Apkhazava D, Jablonka S, O'mer J, Srivastav RK, Baasner A, Lingor P, Wirth B, Ponimaskin E, Niedenthal R, Grothe C, Claus P.
      The spinal muscular atrophy disease protein SMN is linked to the Rho-kinase pathway via profilin.
      Hum Mol Genet. 2011 Dec 15;20(24):4865-78. Epub 2011 Sep 14.
      [PubMed] PMID: 21920940
      

  32. Grellscheid S, Dalgliesh C, Storbeck M, Best A, Liu Y, Jakubik M, Mende Y, Ehrmann I, Curk T, Rossbach K, Bourgeois CF, Stévenin J, Grellscheid D, Jackson MS, Wirth B, Elliott DJ.
      Identification of evolutionarily conserved exons as regulated targets for the splicing activator tra2β in development.
      PLoS Genet. 2011 Dec;7(12):e1002390. doi: 10.1371/journal.pgen.1002390. Epub 2011 Dec 15.
      [PubMed] PMID: 22194695
      

  33. Huang L, Szymanska K, Jensen VL, Janecke AR, Innes AM, Davis EE, Frosk P, Li C, Willer JR, Chodirker BN, Greenberg CR, McLeod DR, Bernier FP, Chudley AE, Müller T, Shboul M, Logan CV, Loucks CM, Beaulieu CL, Bowie RV, Bell SM, Adkins J, Zuniga FI, Ross KD, Wang J, Ban MR, Becker C, Nürnberg P, Douglas S, Craft CM, Akimenko MA, Hegele RA, Ober C, Utermann G, Bolz HJ, Bulman DE, Katsanis N, Blacque OE, Doherty D, Parboosingh JS, Leroux MR, Johnson CA, Boycott KM.
      TMEM237 is mutated in individuals with a Joubert syndrome related disorder and expands the role of the TMEM family at the ciliary transition zone.
      Am J Hum Genet. 2011;89(6):713-30.
      [PubMed] PMID: 22152675
      

  34. Vaché C, Besnard T, le Berre P, García-García G, Baux D, Larrieu L, Abadie C, Blanchet C, Bolz HJ, Millan J, Hamel C, Malcolm S, Claustres M, Roux AF.
      Usher syndrome type 2 caused by activation of an USH2A pseudoexon: implications for diagnosis and therapy.
      Hum Mutat. 2012 Jan;33(1):104-8. doi: 10.1002/humu.21634. Epub 2011 Nov 16.
      [PubMed] PMID: 22009552
      

  35. Hagen A, Bigl A, Wand D, Klopocki E, Heller R, Siekmeyer M, Siekmeyer W, Kiess W, Merkenschlager A.
      Combined partial trisomy 11q and partial monosomy 10p in a 19-year-old female patient: phenotypic and genotypic findings.
      Am J Med Genet A. 2011 Dec;155A(12):3075-81. doi: 10.1002/ajmg.a.34300. Epub 2011 Nov 3.
      [PubMed] PMID: 22052712
      

  36. Schorn R, Beck BB, Cohen CD, Wütherich RP, Mohebbi N.
      Rezidivierende Urolithiasis mit progredienter Niereninsuffiziens.
      Der Nephrologe. 2011/3; 6:270-3.
      Abstract at SpringerMedizin

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