Anna Lehman
University of Kansas(US)
Publications by Year
Research Areas
Genomics and Rare Diseases, Genetics and Neurodevelopmental Disorders, Lysosomal Storage Disorders Research, Metabolism and Genetic Disorders, Genomic variations and chromosomal abnormalities
Most-Cited Works
- → Exome Sequencing and the Management of Neurometabolic Disorders(2016)279 cited
- → Histone Lysine Methylases and Demethylases in the Landscape of Human Developmental Disorders(2017)271 cited
- → Defects in the IFT-B Component IFT172 Cause Jeune and Mainzer-Saldino Syndromes in Humans(2013)226 cited
- → Transcriptional Regulation of BACE1, the β-Amyloid Precursor Protein β-Secretase, by Sp1(2003)220 cited
- → Mutations in NOTCH1 Cause Adams-Oliver Syndrome(2014)188 cited
- → Mutations in B4GALNT1 (GM2 synthase) underlie a new disorder of ganglioside biosynthesis(2013)141 cited
- → Loss-of-Function and Gain-of-Function Mutations in KCNQ5 Cause Intellectual Disability or Epileptic Encephalopathy(2017)126 cited
- → Mutations of AKT3 are associated with a wide spectrum of developmental disorders including extreme megalencephaly(2017)112 cited
- → Mitochondrial Carbonic Anhydrase VA Deficiency Resulting from CA5A Alterations Presents with Hyperammonemia in Early Childhood(2014)107 cited
- → Mosaic Activating Mutations in FGFR1 Cause Encephalocraniocutaneous Lipomatosis(2016)107 cited