Georgianne L. Arnold

Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities

Nicola Brunetti‐Pierri, Jonathan S. Berg, Fernando Scaglia et al. · Nature Genetics · 2008 · 635 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

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 · 292 citations · Full text

Pharmacy, Pediatrics, Pharmacotherapy +6

Delineating the <i>GRIN1</i> phenotypic spectrum

Johannes R. Lemke, Kirsten Geider, Katherine L. Helbig et al. · Neurology · 2016 · 207 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Newborn Screening for Krabbe Disease: the New York State Model

Patricia K. Duffner, Michele Caggana, Joseph J. Orsini et al. · Pediatric Neurology · 2009 · 187 citations

Medicine, Pediatrics, Preventive Medicine +16

Plasma Amino Acids Profiles in Children with Autism: Potential Risk of Nutritional Deficiencies

Georgianne L. Arnold, Susan Hyman, Robert A. Mooney et al. · Journal of Autism and Developmental Disorders · 2003 · 174 citations

Agriculture, Nutritional Sciences, Pediatrics +11