Debra Freedenberg

Newborn Screening for Severe Combined Immunodeficiency in 11 Screening Programs in the United States

Antonia Kwan, Roshini S. Abraham, Robert J. Currier et al. · JAMA · 2014 · 657 citations

Chromosome Catastrophes Involve Replication Mechanisms Generating Complex Genomic Rearrangements

Pengfei Liu, Ayelet Erez, Sandesh C. Sreenath Nagamani et al. · Cell · 2011 · 457 citations · Full text

Chromatin, Genome Instability, Genetics +4

The incidence of urea cycle disorders

Marshall Summar, Stefan Koelker, Debra Freedenberg et al. · Molecular Genetics and Metabolism · 2013 · 308 citations · Full text

Urology, Medicine, Female Urology +4

Increased MECP2 gene copy number as the result of genomic duplication in neurodevelopmentally delayed males

Daniela del Gaudio, Ping Fang, Fernando Scaglia et al. · Genetics in Medicine · 2006 · 269 citations · Full text

Developmental Biology, Brain Development, Developmental Genetics +7

Relapsing diabetes can result from moderately activating mutations in KCNJ11

Anna L. Gloyn, Frank Reimann, Christophe A. Girard et al. · Human Molecular Genetics · 2005 · 197 citations