Publications of V. Kalscheuer
All genres
Journal Article (181)
81.
Journal Article
90 (1), pp. 61 - 8 (2012)
Mutations in SLC33A1 cause a lethal autosomal-recessive disorder with congenital cataracts, hearing loss, and low serum copper and ceruloplasmin. The American Journal of Human Genetics 82.
Journal Article
28 (5), pp. 619 - 27 (2012)
Detecting genomic indel variants with exact breakpoints in single- and paired-end sequencing data using SplazerS. Bioinformatics 83.
Journal Article
136 (4), pp. 242 - 245 (2012)
Parental Origin of de novo Cytogenetically Balanced Reciprocal Non-Robertsonian Translocations. Cytogenetics and Genome Research 84.
Journal Article
21 (1), pp. 219 - 35 (2012)
Methylation of L1Hs promoters is lower on the inactive X, has a tendency of being higher on autosomes in smaller genomes and shows inter-individual variability at some loci. Human Molecular Genetics 85.
Journal Article
54 (4), pp. e383 - 8 (2011)
Biparental inheritance of chromosomal abnormalities in male twins with non-syndromic mental retardation. Eur J Med Genet 86.
Journal Article
19 (6), pp. 717 - 20 (2011)
Hybridisation-based resequencing of 17 X-linked intellectual disability genes in 135 patients reveals novel mutations in ATRX, SLC6A8 and PQBP1. Eur J Hum Genet 87.
Journal Article
20 (24), pp. 4916 - 31 (2011)
The X-chromosome-linked intellectual disability protein PQBP1 is a component of neuronal RNA granules and regulates the appearance of stress granules. Hum Mol Genet 88.
Journal Article
10 (1) (2011)
Modeling read counts for CNV detection in exome sequencing data. Statistical Applications in Genetics and Molecular Biology 89.
Journal Article
478 (7367), pp. 57 - 63 (2011)
Deep sequencing reveals 50 novel genes for recessive cognitive disorders. Nature 90.
Journal Article
12, p. 17 (2011)
Mutation screening of ASMT, the last enzyme of the melatonin pathway, in a large sample of patients with intellectual disability. BMC Med Genet 91.
Journal Article
12 (2), pp. 165 - 7 (2011)
Identification of a novel CDKL5 exon and pathogenic mutations in patients with severe mental retardation, early-onset seizures and Rett-like features. Neurogenetics 92.
Journal Article
88 (5), pp. 628 - 34 (2011)
Next-generation sequencing identifies mutations of SMPX, which encodes the small muscle protein, X-linked, as a cause of progressive hearing impairment. Am J Hum Genet 93.
Journal Article
88 (5), pp. 628 - 34 (2011)
Next-generation sequencing identifies mutations of SMPX, which encodes the small muscle protein, X-linked, as a cause of progressive hearing impairment. Am J Hum Genet 94.
Journal Article
155A (12), pp. 3067 - 70 (2011)
Novel GDI1 mutation in a large family with nonsyndromic X-linked intellectual disability. Am J Med Genet A 95.
Journal Article
87 (4), pp. 465 - 479 (2010)
WDR11, a WD protein that interacts with transcription factor EMX1, is mutated in idiopathic hypogonadotropic hypogonadism and Kallmann syndrome. American Society of Human Genetics 96.
Journal Article
123 (12), pp. 2045 - 2057 (2010)
TRPV1 acts as a synaptic protein and regulates vesicle recycling. Journal of Cell Science 97.
Journal Article
3 (1-4), p. 83 - 83 (2010)
Erratum to: Mutation screening in 86 known X-linked mental retardation genes by droplet-based multiplex PCR and massive parallel sequencing. The Hugo Journal 98.
Journal Article
152A (4), pp. 1008 - 1012 (2010)
Characterization of an interstitial 4q32 deletion in a patient with mental retardation and a complex chromosome rearrangement. American Journal of Medical Genetics. Part A. 99.
Journal Article
18 (3), pp. 291 - 295 (2010)
Chromosome aberrations involving 10q22: report of three overlapping interstitial deletions and a balanced translocation disrupting C10orf11. European Journal of Human Genetics: EJHG 100.
Journal Article
18 (3), pp. 291 - 295 (2010)
Chromosome aberrations involving 10q22: report of three overlapping interstitial deletions and a balanced translocation disrupting C10orf11. European Journal of Human Genetics: EJHG