Enikö K. Pivnick

Clinical outcomes after long-term treatment with alglucosidase alfa in infants and children with advanced Pompe disease

Marc Nicolino, Barry J. Byrne, J. Edmund Wraith et al. · Genetics in Medicine · 2009 · 290 citations · Full text

Pediatric Epidemiology, Clinical Epidemiology, Pediatrics +7

Cardiovascular malformations and other cardiovascular abnormalities in neurofibromatosis 1

Angela E. Lin, Patricia Birch, Bruce R. Korf et al. · American Journal of Medical Genetics · 2000 · 239 citations

Inverted genomic segments and complex triplication rearrangements are mediated by inverted repeats in the human genome

Claudia M.B. Carvalho, Melissa B. Ramocki, Davut Pehli̇van et al. · Nature Genetics · 2011 · 224 citations

Natural Sciences, Genetics, Genome Structure +11

High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype–Phenotype Correlation

Kitiwan Rojnueangnit, Jing Xie, Alicia Gomes et al. · Human Mutation · 2015 · 188 citations · Full text

Genetics, Genetic Epidemiology, Pathology +17

The Interstitial Duplication 15q11.2‐q13 Syndrome Includes Autism, Mild Facial Anomalies and a Characteristic EEG Signature

Nora Urraca, Julie Cleary, Victoria E. Brewer et al. · Autism Research · 2013 · 162 citations · Full text