Bonnie Anne Salbert
Geisinger Health System(US)
Publications by Year
Research Areas
Genomic variations and chromosomal abnormalities, Congenital heart defects research, Genetics and Neurodevelopmental Disorders, Cardiomyopathy and Myosin Studies, Genomics and Rare Diseases
Most-Cited Works
- → A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay(2010)671 cited
- → Deletion 17q12 Is a Recurrent Copy Number Variant that Confers High Risk of Autism and Schizophrenia(2010)331 cited
- → Characteristics and outcomes of cardiomyopathy in children with Duchenne or Becker muscular dystrophy: A comparative study from the Pediatric Cardiomyopathy Registry(2008)228 cited
- → Outcomes in children with Noonan syndrome and hypertrophic cardiomyopathy: A study from the Pediatric Cardiomyopathy Registry(2012)183 cited
- → Characterization of seizures associated with biotinidase deficiency(1993)72 cited
- → POLD1Germline Mutations in Patients Initially Diagnosed with Werner Syndrome(2015)61 cited
- → Ophthalmologic Findings in Biotinidase Deficiency(1993)40 cited
- → Dysmorphic and anthropometric outcomes in 6-year-old prenatally cocaine-exposed children(2005)30 cited
- → The different clinical facets of SYN1-related neurodevelopmental disorders(2022)28 cited
- → Mental retardation and Ullrich‐Turner syndrome in cases with 45,X/46,X,+ mar: Additional support for the loss of the X‐inactivation center hypothesis(1994)24 cited