Janine Wagenstaller
Helmholtz Zentrum München(DE)
Publications by Year
Research Areas
Genomic variations and chromosomal abnormalities, Chromosomal and Genetic Variations, Genomics and Rare Diseases, Genetics and Neurodevelopmental Disorders, Parathyroid Disorders and Treatments
Most-Cited Works
- → DMP1 mutations in autosomal recessive hypophosphatemia implicate a bone matrix protein in the regulation of phosphate homeostasis(2006)521 cited
- → Hereditary Hypophosphatemic Rickets with Hypercalciuria Is Caused by Mutations in the Sodium-Phosphate Cotransporter Gene SLC34A3(2006)369 cited
- → Clinical and molecular delineation of the 17q21.31 microdeletion syndrome(2008)217 cited
- → Identification of FOXP1 deletions in three unrelated patients with mental retardation and significant speech and language deficits(2010)144 cited
- → Copy-Number Variations Measured by Single-Nucleotide–Polymorphism Oligonucleotide Arrays in Patients with Mental Retardation(2007)131 cited
- → Microdeletion syndrome 16p11.2‐p12.2: Clinical and molecular characterization(2009)111 cited
- → Mutations in thelipoma HMGIC fusion partner-like 5 (LHFPL5)gene cause autosomal recessive nonsyndromic hearing loss(2006)71 cited
- → Genomic deletion size at the epsilon-sarcoglycan locus determines the clinical phenotype(2007)58 cited
- → A novel mutation in the MFSD8 gene in late infantile neuronal ceroid lipofuscinosis(2008)40 cited
- → Delineation of a 2q deletion in a girl with dysmorphic features and epilepsy(2006)18 cited