Stephen Amato

NAHR-mediated copy-number variants in a clinical population: Mechanistic insights into both genomic disorders and Mendelizing traits

J. Rosenfeld, P. Stankiewicz, A. Breman, 2013, Genome research.

Increased LIS1 expression affects human and mouse brain development

K. Gunderson, J. Lupski, S. Cheung, 2009, Nature Genetics.

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

P. Stankiewicz, S. Rosengren, E. Roeder, 2008, Nature Genetics.

Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size

P. Stankiewicz, E. Roeder, Ankita Patel, 2009, Journal of Medical Genetics.

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

P. Stankiewicz, Ankita Patel, J. Lupski, 2009, Journal of Medical Genetics.

22q11.2 distal deletion: a recurrent genomic disorder distinct from DiGeorge syndrome and velocardiofacial syndrome.

Jonathan Berg, Ankita Patel, Z. Ou, 2008, American journal of human genetics.

Pegvaliase for the treatment of phenylketonuria: Results of a long-term phase 3 clinical trial program (PRISM).

K. Larimore, J. Vockley, D. Dimmock, 2018, Molecular genetics and metabolism.

22q11.2 distal deletion: a recurrent genomic disorder distinct from DiGeorge syndrome and velocardiofacial syndrome.

Z. Ou, Ankita Patel, J. Lupski, 2008, American journal of human genetics.