Sara Ellingwood
Maine Medical Center(US)University of Michigan–Ann Arbor(US)
Publications by Year
Research Areas
Genetics and Neurodevelopmental Disorders, Genomic variations and chromosomal abnormalities, Cellular transport and secretion, Congenital heart defects research, Autophagy in Disease and Therapy
Most-Cited Works
- → A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay(2010)671 cited
- → SYT1-associated neurodevelopmental disorder: a case series(2018)140 cited
- → TAF1 Variants Are Associated with Dysmorphic Features, Intellectual Disability, and Neurological Manifestations(2015)125 cited
- → Investigation ofNRXN1deletions: Clinical and molecular characterization(2013)111 cited
- → De novo substitutions of TRPM3 cause intellectual disability and epilepsy(2019)66 cited
- → 8p23.1 duplication syndrome; common, confirmed, and novel features in six further patients(2013)56 cited
- → Xq28 duplication overlapping the int22h‐1/int22h‐2 region and including RAB39B and CLIC2 in a family with intellectual and developmental disability(2014)39 cited
- → BET1 variants establish impaired vesicular transport as a cause for muscular dystrophy with epilepsy(2021)15 cited
- → A DNA repair disorder caused by de novo monoallelic DDB1 variants is associated with a neurodevelopmental syndrome(2021)14 cited
- → Abrogation of MAP4K4 protein function causes congenital anomalies in humans and zebrafish(2023)8 cited