Kory Keller
Oregon Health & Science University(US)
Publications by Year
Research Areas
Genetics and Neurodevelopmental Disorders, Genomic variations and chromosomal abnormalities, Immunodeficiency and Autoimmune Disorders, Genomics and Rare Diseases, Congenital heart defects research
Most-Cited Works
- → Clinical spectrum of individuals with pathogenic N F1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype–phenotype study in neurofibromatosis type 1(2019)131 cited
- → Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders(2021)110 cited
- → Mutations in PURA Cause Profound Neonatal Hypotonia, Seizures, and Encephalopathy in 5q31.3 Microdeletion Syndrome(2014)106 cited
- → Further clinical and molecular delineation of the 15q24 microdeletion syndrome(2011)92 cited
- → Reciprocal deletion and duplication at 2q23.1 indicates a role for MBD5 in autism spectrum disorder(2013)86 cited
- → Genotype–phenotype analysis of TCF4 mutations causing Pitt-Hopkins syndrome shows increased seizure activity with missense mutations(2009)85 cited
- → Ovotestes and XY sex reversal in a female with an interstitial 9q33.3‐q34.1 deletion encompassing NR5A1 and LMX1B causing features of genitopatellar syndrome(2007)84 cited
- → Penetrance of biallelic SMARCAL1 mutations is associated with environmental and genetic disturbances of gene expression(2012)61 cited
- → PUF60 variants cause a syndrome of ID, short stature, microcephaly, coloboma, craniofacial, cardiac, renal and spinal features(2017)54 cited
- → Increased Wnt and Notch signaling: a clue to the renal disease in Schimke immuno-osseous dysplasia?(2016)42 cited