Nancy Braverman

Phenylalanine hydroxylase deficiency: diagnosis and management guideline

Jerry Vockley, Hans C. Andersson, Kevin M. Antshel et al. · Genetics in Medicine · 2014 · 692 citations · Full text

Medicine, Clinical Nutrition, Pathology +4

Using Whole-Exome Sequencing to Identify Inherited Causes of Autism

Timothy W. Yu, Maria H. Chahrour, Michael E. Coulter et al. · Neuron · 2013 · 456 citations · Full text

Whole-exome Sequencing, Genetics, Syndromic Autism +1

Human PEX7 encodes the peroxisomal PTS2 receptor and is responsible for rhizomelic chondrodysplasia punctata

Nancy Braverman, Gary Steel, Cassandra Obie et al. · Nature Genetics · 1997 · 445 citations

Rhizomelic Chondrodysplasia Punctata, Signal Transduction, Bone Morphogenic Protein +7

Mutations in the PTS1 receptor gene, PXR1, define complementation group 2 of the peroxisome biogenesis disorders

Gabriele Dodt, Nancy Braverman, C Wong et al. · Nature Genetics · 1995 · 426 citations

Pts1 Receptor Gene, Peroxisome Biogenesis Disorders, Transcriptional Regulation +9

Mutations in the Transmembrane Natriuretic Peptide Receptor NPR-B Impair Skeletal Growth and Cause Acromesomelic Dysplasia, Type Maroteaux

Cynthia F. Bartels, Hülya Bükülmez, Pius S. Padayatti et al. · The American Journal of Human Genetics · 2004 · 363 citations · Full text

Sclerostin, Signal Transduction, Molecular Physiology +8