Saunder Bernes

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 · 627 citations · Full text

Developmental Anomaly, Developmental Biology, Brain Development +7

Microdeletion 15q13.3: a locus with incomplete penetrance for autism, mental retardation, and psychiatric disorders

Shay Ben‐Shachar, Brendan C. Lanpher, Jennifer R. German et al. · Journal of Medical Genetics · 2009 · 265 citations · Full text

<i>ADCY5</i> -related dyskinesia

Donghui Chen, Aurélie Méneret, Jennifer Friedman et al. · Neurology · 2015 · 117 citations · Full text

Identical mitochondrial DNA deletion in mother with progressive external ophthalmoplegia and son with Pearson marrow-pancreas syndrome

Saunder Bernes, Carlos A. Bacino, Toni R. Prezant et al. · The Journal of Pediatrics · 1993 · 102 citations

Ophthalmology, Genetic Disorder, Genetics +6

Genetic and biochemical normalization in female carriers of Duchenne muscular dystrophy

Elena Pegoraro, R. Neil Schimke, H. Stern et al. · Neurology · 1995 · 92 citations