Suneeta Madan‐Khetarpal
Children's Hospital of Pittsburgh(US)
Publications by Year
Research Areas
Genomic variations and chromosomal abnormalities, Genetics and Neurodevelopmental Disorders, Genomics and Rare Diseases, Congenital heart defects research, Prenatal Screening and Diagnostics
Most-Cited Works
- → Expanding the clinical phenotype of the 3q29 microdeletion syndrome and characterization of the reciprocal microduplication(2008)305 cited
- → Discovery of a previously unrecognized microdeletion syndrome of 16p11.2–p12.2(2007)250 cited
- → Clinical Presentation of a Complex Neurodevelopmental Disorder Caused by Mutations in ADNP(2018)178 cited
- → Pathogenetics of alveolar capillary dysplasia with misalignment of pulmonary veins(2016)168 cited
- → Mutations in Prickle Orthologs Cause Seizures in Flies, Mice, and Humans(2011)147 cited
- → Haploinsufficiency ofSOX5at 12p12.1 is associated with developmental delays with prominent language delay, behavior problems, and mild dysmorphic features(2012)103 cited
- → GRIN1 mutation associated with intellectual disability alters NMDA receptor trafficking and function(2017)93 cited
- → SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females(2021)89 cited
- → Expanding the Spectrum of BAF-Related Disorders: De Novo Variants in SMARCC2 Cause a Syndrome with Intellectual Disability and Developmental Delay(2018)88 cited
- → Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies(2018)88 cited