Kenneth N. Rosenbaum

Prolyl 3-hydroxylase 1 deficiency causes a recessive metabolic bone disorder resembling lethal/severe osteogenesis imperfecta

Wayne A. Cabral, Weizhong Chang, Aileen M. Barnes et al. · Nature Genetics · 2007 · 477 citations · Full text

Bone Disease, Developmental Biology, Prolyl 3-Hydroxylase 1 +12

Best Practices in Managing Transition to Adulthood for Adolescents With Congenital Heart Disease: The Transition Process and Medical and Psychosocial Issues

Craig Sable, Elyse Foster, Karen Uzark et al. · Circulation · 2011 · 448 citations

Family Medicine, Young Adult Development, Heart Failure +16

Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844–848

Magdalena Koczkowska, Yunjia Chen, Tom Callens et al. · The American Journal of Human Genetics · 2017 · 203 citations · Full text

Frontometaphyseal dysplasia: Neonatal radiographic diagnosis

Ronald B. J. Glass, Kenneth N. Rosenbaum · American Journal of Medical Genetics · 1995 · 193 citations

Dominant Mutations in KAT6A Cause Intellectual Disability with Recognizable Syndromic Features

Emma Tham, Anna Lindstrand, Avni Santani et al. · The American Journal of Human Genetics · 2015 · 140 citations · Full text

Recognizable Syndromic Features, Developmental Biology, Mendelian Disorder +6