Natalie Lippa
Columbia University Irving Medical Center(US)
Publications by Year
Research Areas
Genomics and Rare Diseases, Genetics and Neurodevelopmental Disorders, Epigenetics and DNA Methylation, Epilepsy research and treatment, BRCA gene mutations in cancer
Most-Cited Works
- → Impact of Informing Overweight Individuals about the Role of Genetics in Obesity: An Online Experimental Study(2013)6,093 cited
- → Morbidity and mortality in type B Niemann–Pick disease(2013)140 cited
- → Causal Genetic Variants in Stillbirth(2020)130 cited
- → Genetic testing and counseling for the unexplained epilepsies: An evidence‐based practice guideline of the National Society of Genetic Counselors(2022)111 cited
- → Successful within-patient dose escalation of olipudase alfa in acid sphingomyelinase deficiency(2015)111 cited
- → SCN3A‐Related Neurodevelopmental Disorder: A Spectrum of Epilepsy and Brain Malformation(2020)93 cited
- → De Novo Mutations in PPP3CA Cause Severe Neurodevelopmental Disease with Seizures(2017)67 cited
- → NBEA: Developmental disease gene with early generalized epilepsy phenotypes(2018)54 cited
- → Impact of Information About Obesity Genomics on the Stigmatization of Overweight Individuals: An Experimental Study(2012)36 cited
- → JARID2 haploinsufficiency is associated with a clinically distinct neurodevelopmental syndrome(2020)35 cited