K. Wagner

S. Scherer, A. Noor, W. Roberts, 2009, American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics.

Mutations in the small GTP-ase late endosomal protein RAB7 cause Charcot-Marie-Tooth type 2B neuropathy.

H. Hartung, D. Fitzpatrick, N. Verpoorten, 2003, American journal of human genetics.

The human γ-aminobutyric acid A receptor delta (GABRD) gene: molecular characterisation and tissue-specific expression

C. Windpassinger, E. Petek, K. Wagner, 2002 .

The human gamma-aminobutyric acid A receptor delta (GABRD) gene: molecular characterisation and tissue-specific expression.

C. Windpassinger, E. Petek, K. Wagner, 2002, Gene.

Candidate region for Gilles de la Tourette syndrome at 7q31.

C. Windpassinger, E. Petek, W. Emberger, 2001, American journal of medical genetics.

Disruption of a novel gene (IMMP2L) by a breakpoint in 7q31 associated with Tourette syndrome.

S. Scherer, J. Vincent, A. Boright, 2001, American journal of human genetics.

Prenatal diagnosis of partial trisomy 4q26‐qter and monosomy for the Wolf–Hirschhorn critical region in a fetus with split hand malformation

E. Petek, K. Wagner, P. Kroisel, 2000, Prenatal diagnosis.

Molecular characterization of a 12q22‐q24 deletion associated with congenital deafness: Confirmation and refinement of the DFNA25 locus

S. Scherer, C. Windpassinger, E. Petek, 2002, American journal of medical genetics. Part A.

Characterization of a de novo complex chromosome rearrangement (CCR) involving chromosomes 2 and 12, associated with mental retardation and impaired speech development

R. Ullmann, C. Windpassinger, E. Petek, 2006, Cytogenetic and Genome Research.

Refinement of the "Silver syndrome locus" on chromosome 11q12-q14 in four families and exclusion of eight candidate genes

C. Windpassinger, E. Petek, K. Wagner, 2003, Human Genetics.

Screening of patients with hereditary spastic paraplegia reveals seven novel mutations in the SPG4 (Spastin) gene

M. Patton, T. Warner, A. Crosby, 2003, Human mutation.

A new 3p interstitial deletion including the entire MITF gene causes a variation of Tietz/Waardenburg type IIA syndromes

G. Gillessen‐kaesbach, C. Windpassinger, E. Petek, 2007, American journal of medical genetics. Part A.

Molecular characterization of a unique de novo 15q deletion associated with Prader–Willi syndrome and central visual impairment

C. Windpassinger, A. Langmann, E. Petek, 2003, Clinical genetics.

Molecular and genomic studies of IMMP2L and mutation screening in autism and Tourette syndrome

S. Scherer, A. Noor, J. Vincent, 2006, Molecular Genetics and Genomics.

An X-linked myopathy with postural muscle atrophy and generalized hypertrophy, termed XMPMA, is caused by mutations in FHL1.

A. Noor, J. Vincent, Hanns Lochmüller, 2008, American journal of human genetics.

Genomic analysis of five chromosome 7p deletion patients with Greig cephalopolysyndactyly syndrome (GCPS).

S. Scherer, J. Vincent, C. Windpassinger, 2006, European journal of medical genetics.

Phenotype of five patients with Greig syndrome and microdeletion of 7p13.

E. Petek, P. Kroisel, K. Wagner, 2001, American journal of medical genetics.

Tetraploid partial hydatidiform moles: two cases with a triple paternal contribution and a 92,XXXY karyotype

U. Surti, M. Leppert, K. Wagner, 2004, Human Genetics.

Predictive diagnosis of the cancer prone Li–Fraumeni syndrome by accident: new challenges through whole genome array testing

M. Speicher, A. Obenauf, A. Langmann, 2009, Journal of Medical Genetics.

Clinical and molecular cytogenetic characterization of two patients with partial trisomy 1q41-qter: further delineation of partial trisomy 1q syndrome.

E. Petek, W. Emberger, P. Kroisel, 2001, American journal of medical genetics.

Phenotype–genotype correlations in a CMT2B family with refined 3q13-q22 locus

K. Verhoeven, V. Timmerman, P. de Jonghe, 2000, Neurology.

Association of BRCA1/2 mutations with FMR1 genotypes: effects on menarcheal and menopausal age.

C. Singer, K. Wagner, M. Tea, 2013, Maturitas.

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.

C. Windpassinger, E. Petek, K. Wagner, 2022, Gene.

A sporadic form of hereditary neuropathy with liability to pressure palsies

F. Leblhuber, F. Reisecker, K. Wagner, 1994, Neurology.

Skin pigmentary anomalies in a mosaic form of partial tetrasomy 3q

E. Petek, P. Kroisel, K. Wagner, 2000, Journal of medical genetics.

Frequency of ΔF508 and haplotype association in Austrian cystic fibrosis families

K. Wagner, M. Zach, W. Rosenkranz, 1992, Human Genetics.

A cystic fibrosis patient with ΔF508, G542X and a deletion at the D7S8 locus

K. Wagner, W. Rosenkranz, M. Pommer, 1994 .

Ulcero-mutilating neuropathy in an Austrian kinship without linkage to hereditary motor and sensory neuropathy IIB and hereditary sensory neuropathy I loci

H. Hartung, V. Timmerman, P. de Jonghe, 2000, Neurology.

Phenotypic and molecular characterisation of a de novo 5q deletion that includes the APC gene

C. Windpassinger, E. Petek, K. Wagner, 2006, Journal of Human Genetics.

Isolation of site-specific insert probes from chimeric YACs.

E. Petek, P. Kroisel, K. Wagner, 1997, BioTechniques.

A rapid and efficient PCR approach for the generation of direct-labeled DNA probes for FISH analysis

E. Petek, K. Wagner, 1999 .

Molecular characterisation of a 15 Mb constitutional de novo interstitial deletion of chromosome 3p in a boy with developmental delay and congenital anomalies

C. Windpassinger, E. Petek, K. Wagner, 2003, Journal of Human Genetics.

Cloning, genomic structure, and expression profiles of TULIP1 (GARNL1), a brain-expressed candidate gene for 14q13-linked neurological phenotypes, and its murine homologue.

D. Geschwind, J. Vincent, A. Schumacher, 2004, Genomics.

Heterozygous missense mutations in BSCL2 are associated with distal hereditary motor neuropathy and Silver syndrome

P. Bergh, N. Verpoorten, V. Timmerman, 2004, Nature Genetics.

Terminal tandem duplication of 16p: a case with "pure" partial trisomy (16)(pter-->p13).

E. Petek, P. Kroisel, K. Wagner, 2002, Genetic Counseling.

Molecular characterisation of a 3.5 Mb interstitial 14q deletion in a child with several phenotypic anomalies

C. Windpassinger, E. Petek, P. Kroisel, 2003, Journal of medical genetics.

Characterization of a de novo partial trisomy 22q13-qter in a patient by microFISH.

I. Mutz, E. Petek, P. Kroisel, 2000, Clinical Dysmorphology.

BRCA1/2 Mutations Appear Embryo-Lethal Unless Rescued by Low (CGG n<26) FMR1 Sub-Genotypes: Explanation for the “BRCA Paradox”?

C. Singer, K. Wagner, D. Barad, 2012, PloS one.

De novo translocation t(5;18)(q33.1;q12.1) associated with autistic disorder

S. Scherer, J. Vincent, C. Windpassinger, 2004, American journal of medical genetics. Part A.

A novel protein truncating mutation in L2HGDH causes L-2-hydroxyglutaric aciduria in a consanguineous Pakistani family

C. Enzinger, Muzammil Ahmad Khan, S. Khan, 2021, Metabolic Brain Disease.

A novel protein truncating mutation in L2HGDH causes L-2-hydroxyglutaric aciduria in a consanguineous Pakistani family

C. Enzinger, Muzammil Ahmad Khan, S. Khan, 2021, Metabolic brain disease.

Molecular cytogenetics and phenotype characterization of a de novo pure partial trisomy 10(q24.33-qter).

I. Mutz, E. Petek, P. Kroisel, 2001, Clinical dysmorphology.

Mosaicism in a fragile X male including a de novo deletion in the FMR1 gene.

E. Petek, P. Kroisel, K. Wagner, 1999, American journal of medical genetics.

Autosomal dominant juvenile amyotrophic lateral sclerosis and distal hereditary motor neuronopathy with pyramidal tract signs: synonyms for the same disorder?

H. Hartung, V. Timmerman, B. Plecko, 2002, Brain : a journal of neurology.

Characterisation of a 19-year-old "long-term survivor" with Edwards syndrome.

M. Bauer, E. Petek, P. Kroisel, 2003, Genetic counseling.

Membrane topology of the human seipin protein

G. von Heijne, C. Lundin, H. Andersson, 2006, FEBS letters.

A new missense mutation G126D in exon 4 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene.

K. Wagner, W. Rosenkranz, I. Greil, 1994, Human heredity.

Frequency of the delta Phe508 mutation and correlation with XV.2c/KM-19 haplotypes in an American population of cystic fibrosis patients: results of a collaborative study.

H. Orr, W. Warwick, M. Knowles, 1990, Clinical chemistry.

Complex chromosomal translocation in a patient with Kallmann syndrome.

E. Petek, P. Kroisel, K. Wagner, 2000, American journal of medical genetics.

Pitfalls in prenatal and postnatal detection of partial trisomy and tetrasomy 13 by rapid aneuploidy detection

E. Petek, K. Wagner, P. Kroisel, 2002, Prenatal diagnosis.

Isolation of a 370 kb YAC fragment spanning a translocation breakpoint at 3p14.1 associated with holoprosencephaly

K. Wagner, P. Kroisel, Erwin Pete, 1998, Clinical genetics.

[Hereditary motor-sensory neuropathies (Charcot-Marie-Tooth syndrome) and related neuropathies. Current classification and genotype-phenotype correlation].

F. Fazekas, H. Hartung, W. Löscher, 1999, Der Nervenarzt.

A new missense mutation G1249E in exon 20 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene.

K. Wagner, W. Rosenkranz, I. Greil, 1994, Human heredity.

Identification of a new splice site mutation (3849 + 1G-->A) in the intron 19 of the CFTR gene.

K. Wagner, W. Rosenkranz, I. Greil, 1993, Human molecular genetics.

Nijmegen breakage syndrome (NBS) due to maternal isodisomy of chromosome 8

K. Sperling, E. Petek, K. Wagner, 2007, American journal of medical genetics. Part A.