Maria X. Sosa
Molloy College(US)
Publications by Year
Research Areas
Congenital gastrointestinal and neural anomalies, Congenital heart defects research, Parathyroid Disorders and Treatments, Genetic Syndromes and Imprinting, Intestinal Malrotation and Obstruction Disorders
Most-Cited Works
- → Molecular Genetic Anatomy and Risk Profile of Hirschsprung’s Disease(2019)187 cited
- → Loss of δ-catenin function in severe autism(2015)164 cited
- → Functional Loss of Semaphorin 3C and/or Semaphorin 3D and Their Epistatic Interaction with Ret Are Critical to Hirschsprung Disease Liability(2015)147 cited
- → Population variation in total genetic risk of Hirschsprung disease from common RET, SEMA3 and NRG1 susceptibility polymorphisms(2015)73 cited
- → Next-Generation Sequencing of Human Mitochondrial Reference Genomes Uncovers High Heteroplasmy Frequency(2012)73 cited
- → Effects of RET and NRG1 polymorphisms in Indonesian patients with Hirschsprung disease(2014)38 cited
- → Rapid and efficient human mutation detection using a bench-top next-generation DNA sequencer(2011)36 cited
- → αKlotho Regulates Age-Associated Vascular Calcification and Lifespan in Zebrafish(2019)34 cited
- → Abnormal Behavior of Zebrafish Mutant in Dopamine Transporter Is Rescued by Clozapine(2019)20 cited
- → Multiple, independent, common variants at RET, SEMA3 and NRG1 gut enhancers specify Hirschsprung disease risk in European ancestry subjects(2021)6 cited