Publications of V. M. Kalscheuer
All genres
Journal Article (179)
41.
Journal Article
97 (6), pp. 922 - 932 (2015)
TAF1 Variants Are Associated with Dysmorphic Features, Intellectual Disability, and Neurological Manifestations. The American Journal of Human Genetics 42.
Journal Article
36 (12), pp. 1176 - 1187 (2015)
Defects in tRNA Anticodon Loop 2'-O-Methylation Are Implicated in Nonsyndromic X-Linked Intellectual Disability due to Mutations in FTSJ1. Human Mutation 43.
Journal Article
36 (12), pp. 1155 - 1158 (2015)
A Novel Mutation in RPL10 (Ribosomal Protein L10) Causes X-Linked Intellectual Disability, Cerebellar Hypoplasia, and Spondylo-Epiphyseal Dysplasia. Human Mutation 44.
Journal Article
23 (10), pp. 1308 - 1317 (2015)
Redefining the MED13L syndrome. European journal of human genetics 45.
Journal Article
97 (2), pp. 302 - 310 (2015)
THOC2 Mutations Implicate mRNA-Export Pathway in X-Linked Intellectual Disability. The American Journal of Human Genetics 46.
Journal Article
97 (2), pp. 343 - 352 (2015)
Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling. The American Journal of Human Genetics 47.
Journal Article
469 (3), pp. 409 - 420 (2015)
Cyclin Y phosphorylation- and 14-3-3-binding-dependent activation of PCTAIRE-1/CDK16. Biochemical Journal 48.
Journal Article
24 (12), pp. 3335 - 3347 (2015)
HCFC1 loss-of-function mutations disrupt neuronal and neural progenitor cells of the developing brain. Human Molecular Genetics 49.
Journal Article
58 (6-7), pp. 364 - 368 (2015)
Identical by descent L1CAM mutation in two apparently unrelated families with intellectual disability without L1 syndrome. European Journal of Medical Genetics 50.
Journal Article
20 (4), pp. 459 - 471 (2015)
In utero gene therapy rescues microcephaly caused by Pqbp1-hypofunction in neural stem progenitor cells. Molecular Psychiatry 51.
Journal Article
36 (1), pp. 106 - 117 (2015)
Variants in CUL4B are Associated with Cerebral Malformations. Human Mutation 52.
Journal Article
95 (6), pp. 729 - 735 (2014)
Mutations in RAB39B Cause X-Linked Intellectual Disability and Early-Onset Parkinson Disease with alpha-Synuclein Pathology. The American Journal of Human Genetics 53.
Journal Article
35 (12), pp. 1427 - 1435 (2014)
Integrated sequence analysis pipeline provides one-stop solution for identifying disease-causing mutations. Human Mutation 54.
Journal Article
23 (23), pp. 6163 - 6176 (2014)
Epigenetic remodelling and dysregulation of DLGAP4 is linked with early-onset cerebellar ataxia. Human Molecular Genetics 55.
Journal Article
76 (5), pp. 758 - 764 (2014)
Absent CNKSR2 causes seizures and intellectual, attention, and language deficits. Annals of Neurology 56.
Journal Article
51 (7), pp. 487 - 494 (2014)
Involvement of the kinesin family members KIF4A and KIF5C in intellectual disability and synaptic function. Journal of Medical Genetics 57.
Journal Article
15, 15:72 (2014)
Terminal chromosome 4q deletion syndrome in an infant with hearing impairment and moderate syndromic features: review of literature. BMC Medical Genetics 58.
Journal Article
9, 9:49 (2014)
X-exome sequencing in Finnish families with intellectual disability--four novel mutations and two novel syndromic phenotypes. Orphanet Journal of Rare Diseases 59.
Journal Article
22 (4), pp. 480 - 485 (2014)
A 3-base pair deletion, c.9711_9713del, in DMD results in intellectual disability without muscular dystrophy. European journal of human genetics 60.
Journal Article
35 (3), pp. 350 - 355 (2014)
Early frameshift mutation in PIGA identified in a large XLID family without neonatal lethality. Human Mutation