Vera Kalscheuer

Dr. Vera Kalscheuer

Max Planck Institute for Molecular Genetics, 14195 Berlin, Germany
orcid

Research Focus & Metrics

Academic Career Length

40Years (1987-Present)

(Calculated once Scilit publication data is synced: current year − year of first publication + 1)

Representative Publications

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21 September 2011 in Nature
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Journal Article
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HNHossein Najmabadi
Hossein Najmabadi
HHHao Hu
Hao Hu
MGMasoud Garshasbi
Masoud Garshasbi
TZTomasz Zemojtel
Tomasz Zemojtel
SASeyedeh Sedigheh Abedini
Seyedeh Sedigheh Abedini
HRH. Hilger Ropers
H. Hilger Ropers

12 February 2006 in Nature Genetics
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Journal Article
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SSSuzanne Schubbert
Suzanne Schubbert
MZMartin Zenker
Martin Zenker
SRSara L Rowe
Sara L Rowe
SBSilke Böll
Silke Böll
CKCornelia Klein
Cornelia Klein
CKChristian P Kratz
Christian P Kratz

3 October 2010 in Nature Genetics
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Journal Article
Closed access
SESabine Endele
Sabine Endele
GRGeorg Rosenberger
Georg Rosenberger
KGKirsten Geider
Kirsten Geider
BPBernt Popp
Bernt Popp
CTCeyhun Tamer
Ceyhun Tamer
KKKerstin Kutsche
Kerstin Kutsche

1 February 2005 in The American Journal of Human Genetics
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Journal Article
Closed access
LJLars Riff Jensen
Lars Riff Jensen
MAMarion Amende
Marion Amende
UGUlf Gurok
Ulf Gurok
BMBettina Moser
Bettina Moser
VGVerena Gimmel
Verena Gimmel
SLSteffen Lenzner
Steffen Lenzner

1 August 2015 in The American Journal of Human Genetics
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Journal Article
Closed access
LBLot Snijders Blok
Lot Snijders Blok
EMErik Madsen
Erik Madsen
JJJane Juusola
Jane Juusola
CGChristian Gilissen
Christian Gilissen
DBDiana Baralle
Diana Baralle
TKTjitske Kleefstra
Tjitske Kleefstra

3 February 2015 in Molecular Psychiatry
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Journal Article
Open access
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HHH Hu
H Hu
SHS A Haas
S A Haas
JCJ Chelly
J Chelly
HEH Van Esch
H Van Esch
MRM Raynaud
M Raynaud
VKVera Kalscheuer
Vera Kalscheuer
X-linked intellectual disability (XLID) is a clinically and genetically heterogeneous disorder. During the past two decades in excess of 100 X-chromosome ID genes have been identified. Yet, a large number of families mapping to the X-chromosome remained unresolved suggesting that more XLID genes or loci are yet to be identified. Here, we have investigated 405 unresolved families with XLID. We employed massively parallel sequencing of all X-chromosome exons in the index males. The majority of these males were previously tested negative for copy number variations and for mutations in a subset of known XLID genes by Sanger sequencing. In total, 745 X-chromosomal genes were screened. After stringent filtering, a total of 1297 non-recurrent exonic variants remained for prioritization. Co-segregation analysis of potential clinically relevant changes revealed that 80 families (20%) carried pathogenic variants in established XLID genes. In 19 families, we detected likely causative protein truncating and missense variants in 7 novel and validated XLID genes (CLCN4, CNKSR2, FRMPD4, KLHL15, LAS1L, RLIM and USP27X) and potentially deleterious variants in 2 novel candidate XLID genes (CDK16 and TAF1). We show that the CLCN4 and CNKSR2 variants impair protein functions as indicated by electrophysiological studies and altered differentiation of cultured primary neurons from Clcn4−/− mice or after mRNA knock-down. The newly identified and candidate XLID proteins belong to pathways and networks with established roles in cognitive function and intellectual disability in particular. We suggest that systematic sequencing of all X-chromosomal genes in a cohort of patients with genetic evidence for X-chromosome locus involvement may resolve up to 58% of Fragile X-negative cases.