Aditi I Dagli

Diagnosis and management of glycogen storage disease type I: a practice guideline of the American College of Medical Genetics and Genomics

Priya S. Kishnani, Stephanie Austin, José E. Abdenur et al. · Genetics in Medicine · 2014 · 476 citations · Full text

Practice Guideline, Mendelian Disorder, Medicine +9

Chromosome 8p23.1 deletions as a cause of complex congenital heart defects and diaphragmatic hernia

Margaret Wat, Oleg A. Shchelochkov, Ashley M. Holder et al. · American Journal of Medical Genetics Part A · 2009 · 176 citations · Full text

Molecular and Clinical Aspects of Angelman Syndrome

Aditi I Dagli, Karin Buiting, Charles A. Williams · Molecular Syndromology · 2011 · 140 citations

Haploinsufficiency of MBD5 associated with a syndrome involving microcephaly, intellectual disabilities, severe speech impairment, and seizures

Stephen R. Williams, Sureni V. Mullegama, Jill A. Rosenfeld et al. · European Journal of Human Genetics · 2009 · 83 citations · Full text

Severe Speech Impairment, Neurological Disorder, Intellectual Disabilities +7

Reversal of glycogen storage disease type IIIa‐related cardiomyopathy with modification of diet

Aditi I Dagli, Roberto T. Zori, Harriet Kling McCune et al. · Journal of Inherited Metabolic Disease · 2009 · 75 citations