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 · 673 citations

Medicine, Immunology, Pediatrics +17

Chromosome Catastrophes Involve Replication Mechanisms Generating Complex Genomic Rearrangements

Pengfei Liu, Ayelet Erez, Sandesh C. Sreenath Nagamani et al. · Cell · 2011 · 461 citations · Full text

Life Sciences, Genetics, Molecular Genetics +10

Ethical and Policy Issues in Genetic Testing and Screening of Children

Mary E. Fallat, Aviva L. Katz, Mark R. Mercurio et al. · PEDIATRICS · 2013 · 393 citations

Life Sciences, Genetics, Pediatrics +17

The incidence of urea cycle disorders

Marshall Summar, Stefan Koelker, Debra Freedenberg et al. · Molecular Genetics and Metabolism · 2013 · 322 citations · Full text

Life Sciences, Nephrology, Pediatric Nephrology +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

Life Sciences, Genetics, Molecular Genetics +14