Luitgard Graul‐Neumann
Nationwide Children's Hospital(US)
Publications by Year
Research Areas
Genomic variations and chromosomal abnormalities, Genomics and Rare Diseases, Genetics and Neurodevelopmental Disorders, Connective tissue disorders research, Craniofacial Disorders and Treatments
Most-Cited Works
- → Effective diagnosis of genetic disease by computational phenotype analysis of the disease-associated genome(2014)265 cited
- → Mutations in the RNA exosome component gene EXOSC3 cause pontocerebellar hypoplasia and spinal motor neuron degeneration(2012)259 cited
- → Transcriptional regulator PRDM12 is essential for human pain perception(2015)171 cited
- → Exome sequencing identifies DYNC2H1 mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement(2013)140 cited
- → Digital necroses and vascular thrombosis in severe spinal muscular atrophy(2010)109 cited
- → 47 patients with FLNA associated periventricular nodular heterotopia(2015)105 cited
- → Pontocerebellar hypoplasia type 1(2013)105 cited
- → Haploinsufficiency of the NOTCH1 Receptor as a Cause of Adams–Oliver Syndrome With Variable Cardiac Anomalies(2015)102 cited
- → PEDIA: prioritization of exome data by image analysis(2019)86 cited
- → Marfan syndrome with neonatal progeroid syndrome‐like lipodystrophy associated with a novel frameshift mutation at the 3′ terminus of the FBN1‐gene(2010)81 cited