Medizinische Universität Graz - Research portal
Windpassinger Christian |
** = Publications listed in SCI/SSCI/Pubmed
2025
Review
** Simons, J; Dekker, A; Govaarts, R; Sarkozy, A; Windpassinger, C; Houwen, S; Voermans, N
Signs and symptoms of carriers of non-DMD X-linked neuromuscular diseases: A scoping review.
J Neuromuscul Dis. 2025; 22143602251330441
Doi: 10.1177/22143602251330441
Web of Science
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2024
Abstract (Journal)
** Kaufmann, L; Pilic, J; Auinger, L; Mayer, AL; Blatterer, J; Semmler-Bruckner, J; Abbas, S; Rehman, K; Ayaz, M; Graier, W; Malli, R; Petek, E; Wagner, K; Al Kaissi, A; Khan, MA; Windpassinger, C
Analysis of a non-lethal biallelic frameshift mutation in ZMPSTE24 reveals utilization of alternative translation initiation codons
EUR J HUM GENET. 2024; 32: 408-408.-56th Annual Conference of the European-Society-of-Human-Genetics (ESHG); JUN 10-13, 2023; Glasgow, SCOTLAND.
Web of Science
2023
Full paper/article (Journal)
** Kaufmann, L; Pilic, J; Auinger, L; Mayer, AL; Blatterer, J; Semmler-Bruckner, J; Abbas, S; Rehman, K; Ayaz, M; Graier, WF; Malli, R; Petek, E; Wagner, K; Al, Kaissi, A; Khan, MA; Windpassinger, C
Analysis of a non-lethal biallelic frameshift mutation in ZMPSTE24 reveals utilization of alternative translation initiation codons.
Clin Genet. 2023; 104(4):491-496
Doi: 10.1111/cge.14381
Web of Science
PubMed
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Case Report
** Gattermeyer, L; Windpassinger, C; Katschnig-Winter, P; Schwingenschuh, P
Fasting Dependent Paroxysmal Exercise Induced Dystonia as Presenting Symptom in PRKN Type of Parkinson's Disease
MOV DISORD CLIN PRAC. 2023;
Doi: 10.1002/mdc3.13716
[OPEN ACCESS]
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2022
Full paper/article (Journal)
** Hussain, S; Nawaz, A; Hamid, M; Ullah, W; Khan, IN; Afshan, M; Rehman, A; Nawaz, H; Halswick, J; Rehman, SU; Ahmad, S; Muzammal, M; Muhammad, N; Jan, A; Khan, S; Windpassinger, C; Khan, MA
Mutation screening of multiple Pakistani MCPH families revealed novel and recurrent protein-truncating mutations of ASPM.
Biotechnol Appl Biochem. 2022; 69(6):2296-2303
Doi: 10.1002/bab.2286
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PubMed
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** Muzammal, M; Ali, MZ; Brugger, B; Blatterer, J; Ahmad, S; Taj, S; Shah, SK; Khan, S; Enzinger, C; Petek, E; Wagner, K; Khan, MA; Windpassinger, C
A novel protein truncating mutation in L2HGDH causes L-2-hydroxyglutaric aciduria in a consanguineous Pakistani family.
Metab Brain Dis. 2022; 37(1):243-252
Doi: 10.1007/s11011-021-00832-2
[OPEN ACCESS]
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** Schaflinger, E; Blatterer, J; Khan, AS; Kaufmann, L; Auinger, L; Tatrai, B; Abbasi, SW; Zeeshan, Ali, M; Abbasi, AA; Al, Kaissi, A; Petek, E; Wagner, K; Ahmad, Khan, M; Windpassinger, C
An exceptional biallelic N-terminal frame shift mutation in ZMPSTE24 leads to non-lethal progeria due to possible utilization of a downstream alternative start codon.
Gene. 2022; 833: 146582
Doi: 10.1016/j.gene.2022.146582
Web of Science
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Abstract (Journal)
** Kaufmann, L; Blatterer, J; Schaflinger, E; Khan, AS; Auinger, L; Tatrai, B; Abbasi, SW; Ali, MZ; Abbasi, AA; Al Kaissi, A; Wagner, K; Khan, MA; Windpassinger, C
An exceptional biallelic N-terminal frameshift mutation in ZMPSTE24 leads to non-lethal progeria due to utilization of a downstream alternative start codon
EUR J HUM GENET. 2022; 30(SUPPL 1):182-182.
[Oral Communication]
Web of Science
2021
Full paper/article (Journal)
** Abbas, S; Brugger, B; Zubair, M; Gul, S; Blatterer, J; Wenninger, J; Rehman, K; Tatrai, B; Khan, MA; Windpassinger, C
Exome sequencing of a Pakistani family with spastic paraplegia identified an 18 bp deletion in the cytochrome B5 domain of FA2H.
Neurol Res. 2021; 43(2):133-140
Doi: 10.1080/01616412.2020.1831329
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** Guelly, C; Abilova, Z; Nuralinov, O; Panzitt, K; Akhmetova, A; Rakhimova, S; Kozhamkulov, U; Kairov, U; Molkenov, A; Seisenova, A; Trajanoski, S; Abildinova Rashbayeva, G; Kaussova, G; Windpassinger, C; Lee, JH; Zhumadilov, Z; Bekbossynova, M; Akilzhanova, A
Patients with coronary heart disease, dilated cardiomyopathy and idiopathic ventricular tachycardia share overlapping patterns of pathogenic variation in cardiac risk genes.
PeerJ. 2021; 9: e10711-e10711.
Doi: 10.7717/peerj.10711
[OPEN ACCESS]
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2020
Full paper/article (Journal)
** Kälsch, AI; Scharnagl, H; Kleber, ME; Windpassinger, C; Sattler, W; Leipe, J; Krämer, BK; März, W; Malle, E
Long- and short-term association of low-grade systemic inflammation with cardiovascular mortality in the LURIC study.
Clin Res Cardiol. 2020; 109(3):358-373
Doi: 10.1007/s00392-019-01516-9
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PubMed
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Case Report
** Ali, MZ; Blatterer, J; Khan, MA; Schaflinger, E; Petek, E; Ahmad, S; Khan, E; Windpassinger, C
Identification of a novel protein truncating mutation p.Asp98* in XPC associated with xeroderma pigmentosum in a consanguineous Pakistani family.
Mol Genet Genomic Med. 2020; 8(2):e1060
Doi: 10.1002/mgg3.1060
(- Case Report)
[OPEN ACCESS]
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2019
Full paper/article (Journal)
** Ahmed, J; Windpassinger, C; Salim, M; Wiener, M; Petek, E; Schaflinger, E; Taj, S; Hussain, S; Abbas, S; Abbas, M; Younis, I; Muhammad, N; Khan, S; Khan, MA
Genetic study of Khyber-Pukhtunkhwa resident Pakistani families presenting primary microcephaly with intellectual disability.
J Pak Med Assoc. 2019; 69(12): 1812-1816.
Doi: 10.5455/JPMA.300681
[OPEN ACCESS]
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** Muzammal, M; Zubair, M; Bierbaumer, S; Blatterer, J; Graf, R; Gul, A; Abbas, S; Badar, M; Abbasi, AA; Khan, MA; Windpassinger, C
Exome sequence analysis in consanguineous Pakistani families inheriting Bardet-Biedle syndrome determined founder effect of mutation c.299delC (p.Ser100Leufs*24) in BBS9 gene.
MOL GENET GENOM MED. 2019; 7(8): e834-e834.
Doi: 10.1002/mgg3.834
[OPEN ACCESS]
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Abstract (Journal)
** Khan, MA; Blatterer, J; Ali, MZ; Baufeld, L; Petek, E; Wagner, K; Ramadani-Muja, J; Malli, R; Muzammal, M; Windpassinger, C
Molecular genetic and cellular characterization of a missense mutation in SLITRK1 associated with non-syndromic autosomal recessive intellectual disability
EUR J HUM GENET. 2019; 27: 1463-1463.
[Poster]
Web of Science
2018
Full paper/article (Journal)
** Bengesser, SA; Reininghaus, EZ; Lackner, N; Birner, A; Fellendorf, FT; Platzer, M; Kainzbauer, N; Tropper, B; Hörmanseder, C; Queissner, R; Kapfhammer, HP; Wallner-Liebmann, SJ; Fuchs, R; Petek, E; Windpassinger, C; Schnalzenberger, M; Reininghaus, B; Evert, B; Waha, A
Is the molecular clock ticking differently in bipolar disorder? Methylation analysis of the clock gene ARNTL.
World J Biol Psychiatry. 2018; 19(sup2):S21-S29
Doi: 10.1080/15622975.2016.1231421
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** Harripaul, R; Vasli, N; Mikhailov, A; Rafiq, MA; Mittal, K; Windpassinger, C; Sheikh, TI; Noor, A; Mahmood, H; Downey, S; Johnson, M; Vleuten, K; Bell, L; Ilyas, M; Khan, FS; Khan, V; Moradi, M; Ayaz, M; Naeem, F; Heidari, A; Ahmed, I; Ghadami, S; Agha, Z; Zeinali, S; Qamar, R; Mozhdehipanah, H; John, P; Mir, A; Ansar, M; French, L; Ayub, M; Vincent, JB
Mapping autosomal recessive intellectual disability: combined microarray and exome sequencing identifies 26 novel candidate genes in 192 consanguineous families.
Mol Psychiatry. 2018; 23(4):973-984
Doi: 10.1038/mp.2017.60
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2017
Full paper/article (Journal)
** Bernhart, E; Stuendl, N; Kaltenegger, H; Windpassinger, C; Donohue, N; Leithner, A; Lohberger, B
Histone deacetylase inhibitors vorinostat and panobinostat induce G1 cell cycle arrest and apoptosis in multidrug resistant sarcoma cell lines.
Oncotarget. 2017; 8(44):77254-77267
Doi: 10.18632/oncotarget.20460
[OPEN ACCESS]
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** Feichtinger, RG; Brunner-Krainz, M; Alhaddad, B; Wortmann, SB; Kovacs-Nagy, R; Stojakovic, T; Erwa, W; Resch, B; Windischhofer, W; Verheyen, S; Uhrig, S; Windpassinger, C; Locker, F; Makowski, C; Strom, TM; Meitinger, T; Prokisch, H; Sperl, W; Haack, TB; Mayr, JA
Combined Respiratory Chain Deficiency and UQCC2 Mutations in Neonatal Encephalomyopathy: Defective Supercomplex Assembly in Complex III Deficiencies.
Oxid Med Cell Longev. 2017; 2017(3-4):7202589-7202589
Doi: 10.1155/2017/7202589
[OPEN ACCESS]
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** Khan, MA; Windpassinger, C; Ali, MZ; Zubair, M; Gul, H; Abbas, S; Khan, S; Badar, M; Mohammad, RM; Nawaz, Z
Molecular genetic analysis of consanguineous families with primary microcephaly identified pathogenic variants in the ASPM gene.
J Genet. 2017; 96(2):383-387
Doi: 10.1007/s12041-017-0759-x
[OPEN ACCESS]
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** Windpassinger, C; Piard, J; Bonnard, C; Alfadhel, M; Lim, S; Bisteau, X; Blouin, S; Ali, NB; Ng, AYJ; Lu, H; Tohari, S; Talib, SZA; van Hul, N; Caldez, MJ; Van Maldergem, L; Yigit, G; Kayserili, H; Youssef, SA; Coppola, V; de Bruin, A; Tessarollo, L; Choi, H; Rupp, V; Roetzer, K; Roschger, P; Klaushofer, K; Altmüller, J; Roy, S; Venkatesh, B; Ganger, R; Grill, F; Ben Chehida, F; Wollnik, B; Altunoglu, U; Al Kaissi, A; Reversade, B; Kaldis, P
CDK10 Mutations in Humans and Mice Cause Severe Growth Retardation, Spine Malformations, and Developmental Delays.
Am J Hum Genet. 2017; 101(3): 391-403.
Doi: 10.1016/j.ajhg.2017.08.003
[OPEN ACCESS]
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Review
** Gruber, R; Rogerson, C; Windpassinger, C; Banushi, B; Straatman-Iwanowska, A; Hanley, J; Forneris, F; Strohal, R; Ulz, P; Crumrine, D; Menon, GK; Blunder, S; Schmuth, M; Müller, T; Smith, H; Mills, K; Kroisel, P; Janecke, AR; Gissen, P
Autosomal Recessive Keratoderma-Ichthyosis-Deafness (ARKID) Syndrome Is Caused by VPS33B Mutations Affecting Rab Protein Interaction and Collagen Modification.
J Invest Dermatol. 2017; 137(4):845-854
Doi: 10.1016/j.jid.2016.12.010
[OPEN ACCESS]
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Correction
** Windpassingers, C
How frequent is osteogenesis imperfecta in patients with idiopathic osteoporosis?: Case reports (vol 96, e7863, 2017)
MEDICINE. 2017; 96(37): e8141
Doi: 10.1097/MD.0000000000008141
[OPEN ACCESS]
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Abstract (Journal)
** Gruber, R; Rogerson, C; Windpassinger, C; Strohal, R; Schmuth, M; Kroisel, P; Janecke, AR; Gissen, P
VPS33B mutations cause ARKID syndrome affecting Rab protein interaction, collagen modification and epidermal structure
J INVEST DERMATOL. .. 2017; 137(10):S223-S223.-47th Annual Meeting of the European-Society-for-Dermatological-Research (ESDR); SEP 27-30, 2017; Salzburg, AUSTRIA.
Doi: 10.1016/j.jid.2017.07.174
[Poster]
Web of Science
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** Vincent, J; Harripaul, R; Santavy, L; NcNaughton, A; Mittal, K; Vasli, N; Mikhailov, A; Henry, C; Hudson, M; Windpassinger, C; Stavropoulos, J; Carter, M; Limprasert, P; Ayub, M; Liu, XD
SCREENING FOR MUTATIONS IN NON-SYNDROMIC AUTOSOMAL RECESSIVE INTELLECTUAL DISABILITY GENES IN NON-CONSANGUINEOUS INTELLECTUAL DISABILITY AND AUTISM POPULATIONS
EUR NEUROPSYCHOPHARM. .. 2017; 27: S299-S299.-23rd Annual World Congress of Psychiatric Genetics (WCPG); OCT 16-20, 2015; Toronto, CANADA.
[Oral Communication]
Web of Science
2016
Full paper/article (Journal)
** Khan, MA; Mohan, S; Zubair, M; Windpassinger, C
Homozygosity mapping identified a novel protein truncating mutation (p.Ser100Leufs*24) of the BBS9 gene in a consanguineous Pakistani family with Bardet Biedl syndrome.
BMC Med Genet. 2016; 17(6): 10-10.
Doi: 10.1186/s12881-016-0271-9
[OPEN ACCESS]
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PubMed
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** Xue, Y; Schoser, B; Rao, AR; Quadrelli, R; Vaglio, A; Rupp, V; Beichler, C; Nelson, SF; Schapacher-Tilp, G; Windpassinger, C; Wilcox, WR
Exome Sequencing Identified a Splice Site Mutation in FHL1 that Causes Uruguay Syndrome, an X-Linked Disorder With Skeletal Muscle Hypertrophy and Premature Cardiac Death.
Circ Cardiovasc Genet. 2016; 9(2):130-135
Doi: 10.1161/CIRCGENETICS.115.001193
[OPEN ACCESS]
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Review
** Khan, MA; Khan, S; Windpassinger, C; Badar, M; Nawaz, Z; Mohammad, RM
The Molecular Genetics of Autosomal Recessive Nonsyndromic Intellectual Disability: a Mutational Continuum and Future Recommendations.
Ann Hum Genet. 2016; 80(6):342-368
Doi: 10.1111/ahg.12176
[OPEN ACCESS]
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2015
Full paper/article (Journal)
** Heidari, A; Tongsook, C; Najafipour, R; Musante, L; Vasli, N; Garshasbi, M; Hu, H; Mittal, K; McNaughton, AJ; Sritharan, K; Hudson, M; Stehr, H; Talebi, S; Moradi, M; Darvish, H; Arshad Rafiq, M; Mozhdehipanah, H; Rashidinejad, A; Samiei, S; Ghadami, M; Windpassinger, C; Gillessen-Kaesbach, G; Tzschach, A; Ahmed, I; Mikhailov, A; Stavropoulos, DJ; Carter, MT; Keshavarz, S; Ayub, M; Najmabadi, H; Liu, X; Ropers, HH; Macheroux, P; Vincent, JB
Mutations in the histamine N-methyltransferase gene, HNMT, are associated with nonsyndromic autosomal recessive intellectual disability.
Hum Mol Genet. 2015; 24(20):5697-5710
Doi: 10.1093/hmg/ddv286
(- Case Report)
[OPEN ACCESS]
Web of Science
PubMed
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** Kurath-Koller, S; Resch, B; Kraschl, R; Windpassinger, C; Eber, E
Surfactant Protein B Deficiency Caused by Homozygous C248X Mutation-A Case Report and Review of the Literature.
AJP Rep. 2015; 5(1):e53-e59
Doi: 10.1055/s-0035-1545668
[OPEN ACCESS]
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** Li, C; Rezania, S; Kammerer, S; Sokolowski, A; Devaney, T; Gorischek, A; Jahn, S; Hackl, H; Groschner, K; Windpassinger, C; Malle, E; Bauernhofer, T; Schreibmayer, W
Piezo1 forms mechanosensitive ion channels in the human MCF-7 breast cancer cell line.
Sci Rep. 2015; 5(2):8364-8364
Doi: 10.1038/srep08364
[OPEN ACCESS]
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** Marschik, PB; Soloveichick, M; Windpassinger, C; Einspieler, C
General movements in genetic disorders: A first look into Cornelia de Lange syndrome.
Dev Neurorehabil. 2015; 18(4):280-282
Doi: 10.3109/17518423.2013.859180
(- Case Report)
[OPEN ACCESS]
Web of Science
PubMed
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Short report/Letter
** Seidel, MG; Hirschmugl, T; Gamez-Diaz, L; Schwinger, W; Serwas, N; Deutschmann, A; Gorkiewicz, G; Zenz, W; Windpassinger, C; Grimbacher, B; Urban, C; Boztug, K
Long-term remission after allogeneic hematopoietic stem cell transplantation in LPS-responsive beige-like anchor (LRBA) deficiency.
J Allergy Clin Immunol. 2015; 135(5):1384-90.e1-1384-90.e8
Doi: 10.1016/j.jaci.2014.10.048
(- Case Report)
[OPEN ACCESS]
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PubMed
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Abstract (Journal)
** Bengesser, S; Lackner, N; Birner, A; Reininghaus, B; Heilbronner, U; Fuchs, R; Allard, N; Wallner-Liebmann, S; Rieger, A; Queissner, R; Filic, K; Fellendorf, F; Petek, E; Windpassinger, C; Schorkhuber, C; Gigler, C; Gatkowsky, K; Macheiner, T; Kainzbauer, N; Reininghaus, E
Is the Molecular Clock Ticking Differently in Bipolar Disorder?
EUR PSYCHIAT. 2015; 30:
Doi: 10.1016/S0924-9338(15)30441-7
[Poster]
Web of Science
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2014
Full paper/article (Journal)
** Bernhart, E; Damm, S; Heffeter, P; Wintersperger, A; Asslaber, M; Frank, S; Hammer, A; Strohmaier, H; DeVaney, T; Mrfka, M; Eder, H; Windpassinger, C; Ireson, CR; Mischel, PS; Berger, W; Sattler, W
Silencing of protein kinase D2 induces glioma cell senescence via p53-dependent and -independent pathways.
Neuro Oncol. 2014; 16(7):933-945
Doi: 10.1093/neuonc/not303
[OPEN ACCESS]
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** Bernkopf, M; Webersinke, G; Tongsook, C; Koyani, CN; Rafiq, MA; Ayaz, M; Müller, D; Enzinger, C; Aslam, M; Naeem, F; Schmidt, K; Gruber, K; Speicher, MR; Malle, E; Macheroux, P; Ayub, M; Vincent, JB; Windpassinger, C; Duba, HC
Disruption of the methyltransferase-like 23 gene METTL23 causes mild autosomal recessive intellectual disability.
Hum Mol Genet. 2014; 23(15):4015-4023
Doi: 10.1093/hmg/ddu115
[OPEN ACCESS]
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** Brozkova, DS; Mazanec, R; Bohm, J; Vysata, O; Auer-Grumbach, M; Windpassinger, C; Neupauerova, J; Barankova, L; Nevsimalova, S; Seeman, P
Hereditary Ulceromutilating Sensory Neuropathy - Clinical, Electrophysiological and Molecular Genetic Study of Three Families
CESK SLOV NEUROL N. 2014; 77(4): 479-486.
Web of Science
** Egger, G; Roetzer, KM; Noor, A; Lionel, AC; Mahmood, H; Schwarzbraun, T; Boright, O; Mikhailov, A; Marshall, CR; Windpassinger, C; Petek, E; Scherer, SW; Kaschnitz, W; Vincent, JB
Identification of risk genes for autism spectrum disorder through copy number variation analysis in Austrian families.
Neurogenetics. 2014; 15(2):117-127
Doi: 10.1007/s10048-014-0394-0
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** Khan, MA; Rupp, V; Khan, MA; Khan, MP; Ansar, M; Windpassinger, C
Genetic analysis of a consanguineous Pakistani family with Leber congenital amaurosis identifies a novel mutation in GUCY2D gene.
J Genet. 2014; 93(2):527-530
Doi: 10.1007/s12041-014-0394-8
[OPEN ACCESS]
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** Khan, MA; Rupp, VM; Orpinell, M; Hussain, MS; Altmüller, J; Steinmetz, MO; Enzinger, C; Thiele, H; Höhne, W; Nürnberg, G; Baig, SM; Ansar, M; Nürnberg, P; Vincent, JB; Speicher, MR; Gönczy, P; Windpassinger, C
A missense mutation in the PISA domain of HsSAS-6 causes autosomal recessive primary microcephaly in a large consanguineous Pakistani family.
Hum Mol Genet. 2014; 23(22):5940-5949
Doi: 10.1093/hmg/ddu318
[OPEN ACCESS]
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** Marschik, PB; Bartl-Pokorny, KD; Tager-Flusberg, H; Kaufmann, WE; Pokorny, F; Grossmann, T; Windpassinger, C; Petek, E; Einspieler, C
Three different profiles: early socio-communicative capacities in typical Rett syndrome, the preserved speech variant and normal development.
Dev Neurorehabil. 2014; 17(1):34-38
Doi: 10.3109/17518423.2013.837537
[OPEN ACCESS]
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** Rossmann, C; Windpassinger, C; Brunner, D; Kovacevic, A; Schweighofer, N; Malli, R; Schuligoi, R; Prokesch, A; Kluve-Beckerman, B; Graier, WF; Kratky, D; Sattler, W; Malle, E
Characterization of rat serum amyloid A4 (SAA4): a novel member of the SAA superfamily.
Biochem Biophys Res Commun. 2014; 450(4):1643-1649
Doi: 10.1016/j.bbrc.2014.07.054
[OPEN ACCESS]
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** Rupp, V; Rauf, S; Naveed, I; Windpassinger, C; Mir, A
A novel single base pair duplication in WDR62 causes primary microcephaly.
BMC Med Genet. 2014; 15(10):107-107
Doi: 10.1186/s12881-014-0107-4
(- Case Report)
[OPEN ACCESS]
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** Schulz, E; Klampfl, P; Holzapfel, S; Janecke, AR; Ulz, P; Renner, W; Kashofer, K; Nojima, S; Leitner, A; Zebisch, A; Wölfler, A; Hofer, S; Gerger, A; Lax, S; Beham-Schmid, C; Steinke, V; Heitzer, E; Geigl, JB; Windpassinger, C; Hoefler, G; Speicher, MR; Boland, CR; Kumanogoh, A; Sill, H
Germline variants in the SEMA4A gene predispose to familial colorectal cancer type X.
Nat Commun. 2014; 5(10):5191-5191
Doi: 10.1038/ncomms6191
[OPEN ACCESS]
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Abstract (Journal)
** Seidel, MG; Hirschmugl, T; Schwinger, W; Gamez-Diaz, L; Serwas, N; Deutschmann, A; Gorkiewicz, G; Zenz, W; Windpassinger, C; Speicher, M; Grimbacher, B; Urban, C; Boztug, K
Long-Term Continuous Remission After Allogeneic Hematopoietic Stem Cell Transplantation in ALPS/CVID Overlap Syndrome Due to Lipopolysaccharide Responsive Beige-Like Anchor Protein (LRBA) Deficiency
J CLIN IMMUNOL. 2014; 34: S226-S227.-16th Biennial Meeting of the European-Society-for-Immunodeficiencies; OCT 29-NOV 01, 2014; Prague, CZECH REPUBLIC.
[Oral Communication]
Web of Science
Meeting Report
** Bertrand, AT; Bönnemann, CG; Bonne, G; FHL1 myopathy consortium
199th ENMC international workshop: FHL1 related myopathies, June 7-9, 2013, Naarden, The Netherlands.
Neuromuscul Disord. 2014; 24(5):453-462
Doi: 10.1016/j.nmd.2014.02.002
[OPEN ACCESS]
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2013
Full paper/article (Journal)
** Cullup, T; Kho, AL; Dionisi-Vici, C; Brandmeier, B; Smith, F; Urry, Z; Simpson, MA; Yau, S; Bertini, E; McClelland, V; Al-Owain, M; Koelker, S; Koerner, C; Hoffmann, GF; Wijburg, FA; ten Hoedt, AE; Rogers, RC; Manchester, D; Miyata, R; Hayashi, M; Said, E; Soler, D; Kroisel, PM; Windpassinger, C; Filloux, FM; Al-Kaabi, S; Hertecant, J; Del Campo, M; Buk, S; Bodi, I; Goebel, HH; Sewry, CA; Abbs, S; Mohammed, S; Josifova, D; Gautel, M; Jungbluth, H;
Recessive mutations in EPG5 cause Vici syndrome, a multisystem disorder with defective autophagy.
Nat Genet. 2013; 45(1):83-87
Doi: 10.1038/ng.2497
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** Lionel, AC; Vaags, AK; Sato, D; Gazzellone, MJ; Mitchell, EB; Chen, HY; Costain, G; Walker, S; Egger, G; Thiruvahindrapuram, B; Merico, D; Prasad, A; Anagnostou, E; Fombonne, E; Zwaigenbaum, L; Roberts, W; Szatmari, P; Fernandez, BA; Georgieva, L; Brzustowicz, LM; Roetzer, K; Kaschnitz, W; Vincent, JB; Windpassinger, C; Marshall, CR; Trifiletti, RR; Kirmani, S; Kirov, G; Petek, E; Hodge, JC; Bassett, AS; Scherer, SW
Rare exonic deletions implicate the synaptic organizer Gephyrin (GPHN) in risk for autism, schizophrenia and seizures.
Hum Mol Genet. 2013; 22(10):2055-2066
Doi: 10.1093/hmg/ddt056
[OPEN ACCESS]
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** Tongsook, C; Bernkopf, M; Windpassinger, C; Macheroux, P
Exploration of the function of human methyltransferase like 23 (METTL23)
FEBS J. 2013; 280: 97-97.
[Poster]
Web of Science
2012
Full paper/article (Journal)
** Binder, JS; Weidemann, F; Schoser, B; Niemann, M; Machann, W; Beer, M; Plank, G; Schmidt, A; Bisping, E; Poparic, I; Lafer, I; Stojakovic, T; Quasthoff, S; Vincent, JB; Rienmueller, R; Speicher, MR; Berghold, A; Pieske, B; Windpassinger, C
Spongious hypertrophic cardiomyopathy in patients with mutations in the four-and-a-half LIM domain 1 gene.
Circ Cardiovasc Genet. 2012; 5(5):490-502
Doi: 10.1161/CIRCGENETICS.111.962332
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** Fischer, C; Trajanoski, S; Papić, L; Windpassinger, C; Bernert, G; Freilinger, M; Schabhüttl, M; Arslan-Kirchner, M; Javaher-Haghighi, P; Plecko, B; Senderek, J; Rauscher, C; Löscher, WN; Pieber, TR; Janecke, AR; Auer-Grumbach, M
SNP array-based whole genome homozygosity mapping as the first step to a molecular diagnosis in patients with Charcot-Marie-Tooth disease.
J Neurol. 2012; 259(3):515-523
Doi: 10.1007/s00415-011-6213-8
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** Gianakopoulos, PJ; Zhang, Y; Pencea, N; Orlic-Milacic, M; Mittal, K; Windpassinger, C; White, SJ; Kroisel, PM; Chow, EW; Saunders, CJ; Minassian, BA; Vincent, JB
Mutations in MECP2 exon 1 in classical Rett patients disrupt MECP2_e1 transcription, but not transcription of MECP2_e2.
Am J Med Genet B Neuropsychiatr Genet. 2012; 159B(2): 210-216.
Doi: 10.1002/ajmg.b.32015
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** Khan, MA; Rafiq, MA; Noor, A; Hussain, S; Flores, JV; Rupp, V; Vincent, AK; Malli, R; Ali, G; Khan, FS; Ishak, GE; Doherty, D; Weksberg, R; Ayub, M; Windpassinger, C; Ibrahim, S; Frye, M; Ansar, M; Vincent, JB
Mutation in NSUN2, which encodes an RNA methyltransferase, causes autosomal-recessive intellectual disability.
Am J Hum Genet. 2012; 90(5):856-863
Doi: 10.1016/j.ajhg.2012.03.023
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Abstract (Journal)
** Binder, J; Weidemann, F; Beer, M; Machann, W; Niemann, M; Plank, G; Lafer, I; Quasthoff, S; Stojakovic, T; Windpassinger, C
SPONGIOUS HYPERTROPHIC CARDIOMYOPATHY: A NOVEL PHENOTYPE OF HYPERTROPHIC CARDIOMYOPATHY IN PATIENTS WITH MUTATIONS IN THE FOUR-AND-A-HALF LIM-DOMAIN 1 GENE.
J AM COLL CARDIOL. 2012; 59(13):E1579-E1579.-61st Annual Scientific Session and Expo of the American College of Cardiology (ACC); MAR 24-27, 2012; Chicago, IL, USA.
Doi: 10.1016/S0735-1097(12)61580-0
[Poster]
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** Wiesner, T; Obenauf, AC; Murali, R; Fried, I; Griewank, KG; Ulz, P; Windpassinger, C; Wackernagel, W; Loy, S; Wolf, I; Viale, A; Lash, AE; Pirun, M; Socci, ND; Rütten, A; Palmedo, G; Abramson, D; Offit, K; Ott, A; Becker, JC; Cerroni, L; Kutzner, H, Bastian, BC; Speicher, MR
Germline mutations in BAP1 predispose to melanocytic tumors.
Experimental Dermatology. 2012; 21(3):e22--39th Annual Meeting of the Arbeitsgemeinschaft Dermatologische Forschung (ADF); March 01-03, 2012; Marburg, Germany.
[Poster]
Web of Science
2011
Full paper/article (Journal)
** Auer-Grumbach, M; Weger, M; Fink-Puches, R; Papić, L; Fröhlich, E; Auer-Grumbach, P; El Shabrawi-Caelen, L; Schabhüttl, M; Windpassinger, C; Senderek, J; Budka, H; Trajanoski, S; Janecke, AR; Haas, A; Metze, D; Pieber, TR; Guelly, C
Fibulin-5 mutations link inherited neuropathies, age-related macular degeneration and hyperelastic skin.
Brain. 2011; 134(Pt 6):1839-1852
Doi: 10.1093/brain/awr076
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** Beitzke, M; Enzinger, C; Windpassinger, C; Pfeifer, D; Fazekas, F; Woellner, C; Grimbacher, B; Kroisel, PM
Community acquired Staphylococcus aureus meningitis and cerebral abscesses in a patient with a Hyper-IgE and a Dubowitz-like syndrome.
J Neurol Sci. 2011; 309(1-2):12-15
Doi: 10.1016/j.jns.2011.07.045
(- Case Report)
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** Namavar, Y; Barth, PG; Kasher, PR; van Ruissen, F; Brockmann, K; Bernert, G; Writzl, K; Ventura, K; Cheng, EY; Ferriero, DM; Basel-Vanagaite, L; Eggens, VR; Krägeloh-Mann, I; De Meirleir, L; King, M; Graham, JM; von Moers, A; Knoers, N; Sztriha, L; Korinthenberg, R; PCH Consortium; Dobyns, WB; Baas, F; Poll-The, BT
Clinical, neuroradiological and genetic findings in pontocerebellar hypoplasia.
Brain. 2011; 134(Pt 1): 143-156.
Doi: 10.1093/brain/awq287
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** Poparic, I; Schreibmayer, W; Schoser, B; Desoye, G; Gorischek, A; Miedl, H; Hochmeister, S; Binder, J; Quasthoff, S; Wagner, K; Windpassinger, C; Malle, E
Four and a half LIM protein 1C (FHL1C): a binding partner for voltage-gated potassium channel K(v1.5).
PLOS ONE. 2011; 6(10): e26524-e26524.
Doi: 10.1371/journal.pone.0026524
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** Sarkozy, A; Windpassinger, C; Hudson, J; Dougan, CF; Lecky, B; Hilton-Jones, D; Eagle, M; Charlton, R; Barresi, R; Lochmüller, H; Bushby, K; Straub, V
Phenotypic heterogeneity in British patients with a founder mutation in the FHL1 gene.
Eur J Hum Genet. 2011; 19(10): 1038-1044.
Doi: 10.1038/ejhg.2011.84
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** Wiesner, T; Obenauf, AC; Murali, R; Fried, I; Griewank, KG; Ulz, P; Windpassinger, C; Wackernagel, W; Loy, S; Wolf, I; Viale, A; Lash, AE; Pirun, M; Socci, ND; Rütten, A; Palmedo, G; Abramson, D; Offit, K; Ott, A; Becker, JC; Cerroni, L; Kutzner, H; Bastian, BC; Speicher, MR
Germline mutations in BAP1 predispose to melanocytic tumors.
Nat Genet. 2011; 43(10):1018-1021
Doi: 10.1038/ng.910
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2009
Full paper/article (Journal)
** Miltenberger-Miltenyi, G; Schwarzbraun, T; Löscher, WN; Wanschitz, J; Windpassinger, C; Duba, HC; Seidl, R; Albrecht, G; Weirich-Schwaiger, H; Zoller, H; Utermann, G; Auer-Grumbach, M; Janecke, AR
Identification and in silico analysis of 14 novel GJB1, MPZ and PMP22 gene mutations.
Eur J Hum Genet. 2009; 17(9): 1154-1159.
Doi: 10.1038/ejhg.2009.29
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** Noor, A; Windpassinger, C; Vitcu, I; Orlic, M; Arshad Rafiq, M; Khalid, M; Nasir Malik, M; Ayub, M; Alman, B; Vincent, JB
Oligodontia is caused by mutation in LTBP3, the gene encoding latent TGF-beta binding protein 3.
Am J Hum Genet. 2009; 84(4): 519-523.
Doi: 10.1016/j.ajhg.2009.03.007
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** Schoser, B; Goebel, HH; Janisch, I; Quasthoff, S; Rother, J; Bergmann, M; Müller-Felber, W; Windpassinger, C
Consequences of mutations within the C terminus of the FHL1 gene.
Neurology. 2009; 73(7): 543-551.
Doi: 10.1212/WNL.0b013e3181b2a4b3
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** Vincent, JB; Noor, A; Windpassinger, C; Gianakopoulos, PJ; Schwarzbraun, T; Alfred, SE; Stachowiak, B; Scherer, SW; Roberts, W; Wagner, K; Kroisel, PM; Petek, E
Characterization of a de novo translocation t(5;18)(q33.1;q12.1) in an autistic boy identifies a breakpoint close to SH3TC2, ADRB2, and HTR4 on 5q, and within the desmocollin gene cluster on 18q.
Am J Med Genet B Neuropsychiatr Genet. 2009; 150B(6):817-826
Doi: 10.1002/ajmg.b.30903
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2008
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** Auer-Grumbach, M; Fischer, C; Papić, L; John, E; Plecko, B; Bittner, RE; Bernert, G; Pieber, TR; Miltenberger, G; Schwarz, R; Windpassinger, C; Grill, F; Timmerman, V; Speicher, MR; Janecke, AR
Two novel mutations in the GDAP1 and PRX genes in early onset Charcot-Marie-Tooth syndrome.
Neuropediatrics. 2008; 39(1):33-38
Doi: 10.1055/s-2008-1077085
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** Noor, A; Windpassinger, C; Patel, M; Stachowiak, B; Mikhailov, A; Azam, M; Irfan, M; Siddiqui, ZK; Naeem, F; Paterson, AD; Lutfullah, M; Vincent, JB; Ayub, M
CC2D2A, encoding a coiled-coil and C2 domain protein, causes autosomal-recessive mental retardation with retinitis pigmentosa.
Am J Hum Genet. 2008; 82(4):1011-1018
Doi: 10.1016/j.ajhg.2008.01.021
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** Windpassinger, C; Schoser, B; Straub, V; Hochmeister, S; Noor, A; Lohberger, B; Farra, N; Petek, E; Schwarzbraun, T; Ofner, L; Löscher, WN; Wagner, K; Lochmüller, H; Vincent, JB; Quasthoff, S
An X-linked myopathy with postural muscle atrophy and generalized hypertrophy, termed XMPMA, is caused by mutations in FHL1.
Am J Hum Genet. 2008; 82(1): 88-99.
Doi: 10.1016/j.ajhg.2007.09.004
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Abstract (Journal)
** Sarkozy, A; Bushby, K; Hilton-Jones, D; Dougan, CF; Lochmuller, H; Windpassinger, C; Straub, V
Phenotypic characterization of two unrelated UK families with X-linked myopathy and an identical mutation in the FHL1 gene
NEUROMUSCULAR DISORD. 2008; 18(9-10):819-819.-13th International Congress of the World-Muscle-Society; SEP 29-OCT 02, 2008; Newcastle upon Tyne, ENGLAND.
Doi: 10.1016/j.nmd.2008.06.327
[Poster]
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** Quasthoff, S; Windpassinger C; Schoser B; Hochmeister S; Straub V; Lohberger B; Petek E; Schwarzbraun T; Wagner K, Löscher WN; Lochmüller H; Farra N; Ofner L; Mikhailov A; Vincent JB
FHL1 Gene mutation associated myopathy: a novel class of inherited myopathies.
. 2008; 255(2): 33-33.
[Oral Communication]
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** Noor, A; Windpassinger, C; Patel, M; Stachowiak, B; Mikhailov, A; Azam, M; Irfan, M; Paterson, AD; Lutufullah, M; Doherty, D; Vincent, JB; Ayub, M
Addendum. CC2D2A, encoding a coiled-coil and C2 domain protein, causes autosomal-recessive mental retardation with retinitis pigmentosa.
Am J Hum Genet. 2008; 83(5): 656-656.
Doi: 10.1016/j.ajhg.2008.10.005
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2007
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** Mach, M; Windpassinger, C; Wagner, K; Kroisel, PM; Petek, E
Distal monosomy 16p13.3/distal trisomy 2p24.2-pter: molecular-cytogenetic characterisation and phenotype.
GENET COUNSEL. 2007; 18(1): 9-16.
(- Case Report)
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** Mensah, AK; De Luca, V; Stachowiak, B; Noor, A; Windpassinger, C; Lam, ST; Kennedy, JL; Scherer, SW; Lo, IF; Vincent, JB
Molecular analysis of a chromosome 4 inversion segregating in a large schizophrenia kindred from Hong Kong.
Schizophr Res. 2007; 95(1-3):228-235
Doi: 10.1016/j.schres.2007.06.011
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** Miltenberger-Miltenyi, G; Janecke, AR; Wanschitz, JV; Timmerman, V; Windpassinger, C; Auer-Grumbach, M; Löscher, WN
Clinical and electrophysiological features in Charcot-Marie-Tooth disease with mutations in the NEFL gene.
Arch Neurol. 2007; 64(7):966-970
Doi: 10.1001/archneur.64.7.966
[OPEN ACCESS]
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** Petek, E; Schwarzbraun, T; Noor, A; Patel, M; Nakabayashi, K; Choufani, S; Windpassinger, C; Stamenkovic, M; Robertson, MM; Aschauer, HN; Gurling, HM; Kroisel, PM; Wagner, K; Scherer, SW; Vincent, JB
Molecular and genomic studies of IMMP2L and mutation screening in autism and Tourette syndrome.
Mol Genet Genomics. 2007; 277(1):71-81
Doi: 10.1007/s00438-006-0173-1
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** Schwarzbraun, T; Ofner, L; Gillessen-Kaesbach, G; Schaperdoth, B; Preisegger, KH; Windpassinger, C; Wagner, K; Petek, E; Kroisel, PM
A new 3p interstitial deletion including the entire MITF gene causes a variation of Tietz/Waardenburg type IIA syndromes.
Am J Med Genet A. 2007; 143(6): 619-624.
Doi: 10.1002/ajmg.a.31627
(- Case Report)
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2006
Full paper/article (Journal)
** Lundin, C; Nordström, R; Wagner, K; Windpassinger, C; Andersson, H; von Heijne, G; Nilsson, I
Membrane topology of the human seipin protein.
FEBS Lett. 2006; 580(9):2281-2284
Doi: 10.1016/j.febslet.2006.03.040
[OPEN ACCESS]
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** Ofner, L; Raedle, J; Windpassinger, C; Schwarzbraun, T; Kroisel, PM; Wagner, K; Petek, E
Phenotypic and molecular characterisation of a de novo 5q deletion that includes the APC gene.
J HUM GENET. 2006; 51(2): 141-146.
Doi: 10.1007/s10038-005-0333-x
[OPEN ACCESS]
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** Schwarzbraun, T; Ullmann, R; Schubert, M; Ledinegg, M; Ofner, L; Windpassinger, C; Wagner, K; Kroisel, PM; Petek, E
Characterization of a de novo complex chromosome rearrangement (CCR) involving chromosomes 2 and 12, associated with mental retardation and impaired speech development.
Cytogenet Genome Res. 2006; 115(1):84-89
Doi: 10.1159/000094804
(- Case Report)
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** Schwarzbraun, T; Windpassinger, C; Ofner, L; Vincent, JB; Cheung, J; Scherer, SW; Wagner, K; Kroisel, PM; Petek, E
Genomic analysis of five chromosome 7p deletion patients with Greig cephalopolysyndactyly syndrome (GCPS).
EUR J MED GENET. 2006; 49(4): 338-345.
Doi: 10.1016/j.ejmg.2005.10.133
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** Winner, B; Gross, C; Uyanik, G; Schulte-Mattler, W; Lürding, R; Marienhagen, J; Bogdahn, U; Windpassinger, C; Hehr, U; Winkler, J
Thin corpus callosum and amyotrophy in spastic paraplegia--case report and review of literature.
Clin Neurol Neurosurg. 2006; 108(7):692-698
Doi: 10.1016/j.clineuro.2005.06.007
(- Case Report)
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** Zebisch, A; Staber, PB; Delavar, A; Bodner, C; Hiden, K; Fischereder, K; Janakiraman, M; Linkesch, W; Auner, HW; Emberger, W; Windpassinger, C; Schimek, MG; Hoefler, G; Troppmair, J; Sill, H
Two transforming C-RAF germ-line mutations identified in patients with therapy-related acute myeloid leukemia.
Cancer Res. 2006; 66(7):3401-3408
Doi: 10.1158/0008-5472.CAN-05-0115
[OPEN ACCESS]
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Abstract (Journal)
** Vincent, J; Marsha, C; Noor, A; Windpassinger, C; Horike, S; Choufani, S; Stachowiak, B; Skaug, J; Sloman, L; Kroisel, P; Petek, E; Roberts, W; Scherer, S
Molecular analysis of 8 autism patients with cytogenetic abnormalities
AM J MED GENET PART B. 714-714.
[Poster]
Web of Science
2005
Full paper/article (Journal)
** Auer-Grumbach, M; Schlotter-Weigel, B; Lochmüller, H; Strobl-Wildemann, G; Auer-Grumbach, P; Fischer, R; Offenbacher, H; Zwick, EB; Robl, T; Hartl, G; Hartung, HP; Wagner, K; Windpassinger, C; Austrian Peripheral Neuropathy Study Group
Phenotypes of the N88S Berardinelli-Seip congenital lipodystrophy 2 mutation.
Ann Neurol. 2005; 57(3):415-424
Doi: 10.1002/ana.20410
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2004
Full paper/article (Journal)
** Evgrafov, OV; Mersiyanova, I; Irobi, J; Van Den Bosch, L; Dierick, I; Leung, CL; Schagina, O; Verpoorten, N; Van Impe, K; Fedotov, V; Dadali, E; Auer-Grumbach, M; Windpassinger, C; Wagner, K; Mitrovic, Z; Hilton-Jones, D; Talbot, K; Martin, JJ; Vasserman, N; Tverskaya, S; Polyakov, A; Liem, RK; Gettemans, J; Robberecht, W; De Jonghe, P; Timmerman, V
Mutant small heat-shock protein 27 causes axonal Charcot-Marie-Tooth disease and distal hereditary motor neuropathy.
Nat Genet. 2004; 36(6):602-606
Doi: 10.1038/ng1354
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** Irobi, J; Van den Bergh, P; Merlini, L; Verellen, C; Van Maldergem, L; Dierick, I; Verpoorten, N; Jordanova, A; Windpassinger, C; De Vriendt, E; Van Gerwen, V; Auer-Grumbach, M; Wagner, K; Timmerman, V; De Jonghe, P
The phenotype of motor neuropathies associated with BSCL2 mutations is broader than Silver syndrome and distal HMN type V.
BRAIN. 2004; 127(Pt 9): 2124-2130.
Doi: 10.1093/brain/awh232
[OPEN ACCESS]
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** Schwarzbraun, T; Vincent, JB; Schumacher, A; Geschwind, DH; Oliveira, J; Windpassinger, C; Ofner, L; Ledinegg, MK; Kroisel, PM; Wagner, K; Petek, E
Cloning, genomic structure, and expression profiles of TULIP1 (GARNL1), a brain-expressed candidate gene for 14q13-linked neurological phenotypes, and its murine homologue.
Genomics. 2004; 84(3):577-586
Doi: 10.1016/j.ygeno.2004.04.013
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** Windpassinger, C; Auer-Grumbach, M; Irobi, J; Patel, H; Petek, E; Hörl, G; Malli, R; Reed, JA; Dierick, I; Verpoorten, N; Warner, TT; Proukakis, C; Van den Bergh, P; Verellen, C; Van Maldergem, L; Merlini, L; De Jonghe, P; Timmerman, V; Crosby, AH; Wagner, K
Heterozygous missense mutations in BSCL2 are associated with distal hereditary motor neuropathy and Silver syndrome.
Nat Genet. 2004; 36(3):271-276
Doi: 10.1038/ng1313
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Short report/Letter
** Kroisel, PM; Windpassinger, C; Wagner, K; Petek, E; Vincent, JB; Scherer, SW; Spiel, G; Artner, V; Valtiner, E
De novo translocation t(5;18)(q33.1;q12.1) associated with autistic disorder.
AM J MED GENET PART A. 2004; 129A(1): 98-100.
Doi: 10.1002/ajmg.a.30150
(- Case Report)
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Abstract (Journal)
** Zebisch, A; Staber, PB; Fischereder, K; Bodner, C; Hiden, K; Linkesch, W; Auner, HW; Emberger, W; Windpassinger, C; Schimek, MG; Hoefler, G; Troppmair, J; Sill, H
Two novel activating germline mutations of the C-RAF proto-oncogene predisposing to solid tbmors and therapy-related acute myeloid leukemia.
BLOOD 2004 104: 920A-920A.
Doi: 10.1182/blood.V104.11.3370.3370
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2003
Full paper/article (Journal)
** Auer-Grumbach, M; Strasser-Fuchs, S; Robl, T; Windpassinger, C; Wagner, K
Late onset Charcot-Marie-Tooth 2 syndrome caused by two novel mutations in the MPZ gene.
Neurology. 2003; 61(10):1435-1437
Doi: 10.1212/01.WNL.0000094197.46109.75
(- Case Report)
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** Petek, E; Windpassinger, C; Mach, M; Rauter, L; Scherer, SW; Wagner, K; Kroisel, PM
Molecular characterization of a 12q22-q24 deletion associated with congenital deafness: confirmation and refinement of the DFNA25 locus.
AM J MED GENET PART A. 2003; 117A(2): 122-126.
Doi: 10.1002/ajmg.a.10155
(- Case Report)
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** Petek, E; Windpassinger, C; Simma, B; Mueller, T; Wagner, K; Kroisel, PM
Molecular characterisation of a 15 Mb constitutional de novo interstitial deletion of chromosome 3p in a boy with developmental delay and congenital anomalies.
J Hum Genet. 2003; 48(6):283-287
Doi: 10.1007/s10038-003-0023-5
(- Case Report)
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** Windpassinger, C; Petek, E; Wagner, K; Langmann, A; Buiting, K; Kroisel, PM
Molecular characterization of a unique de novo 15q deletion associated with Prader-Willi syndrome and central visual impairment.
CLIN GENET. 2003; 63(4): 297-302.
Doi: 10.1034/j.1399-0004.2003.00059.x
(- Case Report)
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** Windpassinger, C; Wagner, K; Petek, E; Fischer, R; Auer-Grumbach, M
Refinement of the Silver syndrome locus on chromosome 11q12-q14 in four families and exclusion of eight candidate genes.
HUM GENET. 2003; 114(1): 99-109.
Doi: 10.1007/s00439-003-1021-6
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Short report/Letter
** Petek, E; Jenne, DE; Smolle, J; Binder, B; Lasinger, W; Windpassinger, C; Wagner, K; Kroisel, PM; Kehrer-Sawatzki, H
Mitotic recombination mediated by the JJAZF1 (KIAA0160) gene causing somatic mosaicism and a new type of constitutional NF1 microdeletion in two children of a mosaic female with only few manifestations.
J Med Genet. 2003; 40(7):520-525
Doi: 10.1136/jmg.40.7.520
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** Petek, E; Plecko-Startinig, B; Windpassinger, C; Egger, H; Wagner, K; Kroisel, PM
Molecular characterisation of a 3.5 Mb interstitial 14q deletion in a child with several phenotypic anomalies.
J Med Genet. 2003; 40(4):e47-e47
Doi: 10.1136/jmg.40.4.e47
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2002
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** Windpassinger, C; Kroisel, PM; Wagner, K; Petek, E
Chromosomal localization and genomic organization of the human Linker for Activation of T cells (LAT) gene.
Cytogenet Genome Res. 2002; 97(3-4):155-157
Doi: 10.1159/000066598
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** Windpassinger, C; Kroisel, PM; Wagner, K; Petek, E
The human gamma-aminobutyric acid A receptor delta (GABRD) gene: molecular characterisation and tissue-specific expression.
Gene. 2002; 292(1-2):25-31
Doi: 10.1016/S0378-1119(02)00649-2
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Abstract (Journal)
** Kroisel, PM; Windpassinger, C; Zierler, H; Wagner, K; Petek, E
Constitutional microdeletion del(22)(q12.1q12.3) including the NF2 gene region.
EUR J HUMAN GENET 2002 10: 133-133.
Web of Science
** Petek, E; Windpassinger, C; Scherer, SW; Wagner, K; Kroisel, PM
Molecular genetic delineation of de novo 7p11-p14 deletions in Greig syndrome
EUR J HUMAN GENET 2002 10: 121-121.
Web of Science
** Windpassinger, C; Wagner, K; Scherer, SW; Kroisel, PM; Petek, E
Refined molecular characterisation of a de novo t(5;18)(q33;q12) associated with Rett-like syndrome and autism
EUR J HUMAN GENET 2002 10: 219-220.
Web of Science
2001
Full paper/article (Journal)
** Kroisel, PM; Petek, E; Emberger, W; Windpassinger, C; Wladika, W; Wagner, K
Candidate region for Gilles de la Tourette syndrome at 7q31.
Am J Med Genet. 2001; 101(3):259-261
Doi: 10.1002/1096-8628(20010701)101:3<259::AID-AJMG1374>3.0.CO;2-#
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** Petek, E; Windpassinger, C; Vincent, JB; Cheung, J; Boright, AP; Scherer, SW; Kroisel, PM; Wagner, K
Disruption of a novel gene (IMMP2L) by a breakpoint in 7q31 associated with Tourette syndrome.
Am J Hum Genet. 2001; 68(4):848-858
Doi: 10.1086/319523
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Abstract (Journal)
** Kroisel, PM; Wagner, K; Kolozsvari, D; Windpassinger, C; Scherer, SW; Petek, E
Identification of disease causing genes in 7p11-p14 deleted in patients with Greig syndrome and additional clinical features.
AMER J HUM GENET 2001 69: 285-285.
Web of Science
2000
Full paper/article (Journal)
** Emberger, W; Windpassinger, C; Petek, E; Kroisel, PM; Wagner, K
Assignment of the human GABAA receptor delta-subunit gene (GABRD) to chromosome band 1p36.3 distal to marker NIB1364 by radiation hybrid mapping.
Cytogenet Cell Genet. 2000; 89(3-4):281-282
Doi: 10.1159/000015636
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** Petek, E; Windpassinger, C; Egger, H; Kroisel, PM; Wagner, K
Localization of the human anterior gradient-2 gene (AGR2) to chromosome band 7p21.3 by radiation hybrid mapping and fluorescencein situ hybridisation.
Cytogenet Cell Genet. 2000; 89(3-4):141-142
Doi: 10.1159/000015594
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1998
Full paper/article (Journal)
** Helma, C; Eckl, P; Gottmann, E; Kassie, F; Rodinger, W; Steinkellner, H; Windpassinger, C; Schulte-Hermann, R; Knasmuller, S
Genotoxic and ecotoxic effects of groundwaters and their relation to routinely measured chemical parameters
ENVIRON SCI TECHNOL. 1998; 32(12): 1799-1805.
Doi: 10.1021/es971049g
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