Susan O. Lewin

The genetic architecture of Down syndrome phenotypes revealed by high-resolution analysis of human segmental trisomies

Jan O. Korbel, Tal Tirosh‐Wagner, Alexander E. Urban et al. · Proceedings of the National Academy of Sciences · 2009 · 393 citations · Full text

Down Syndrome, Severe Mental Retardation, Developmental Biology +14

Genotype–phenotype correlation in hereditary hemorrhagic telangiectasia: Mutations and manifestations*

Pınar Bayrak‐Toydemir, Jamie McDonald, Boaz A. Markewitz et al. · American Journal of Medical Genetics Part A · 2006 · 213 citations

Malfunction of Nuclease ERCC1-XPF Results in Diverse Clinical Manifestations and Causes Cockayne Syndrome, Xeroderma Pigmentosum, and Fanconi Anemia

Kazuya Kashiyama, Yuka Nakazawa, Daniela T. Pilz et al. · The American Journal of Human Genetics · 2013 · 203 citations · Full text

Fanconi Anemia, Genetics, Hematology +5

Neurofibromatosis and Psychological Processes

Connie K. Varnhagen, Susan O. Lewin, J. P. Das et al. · Journal of Developmental & Behavioral Pediatrics · 1988 · 66 citations

Neuropsychology, Corticobasal Degeneration, Affective Neuroscience +21

Polytopic anomalies with agenesis of the lower vertebral column

Axel Bohring, Susan O. Lewin, James F. Reynolds et al. · American Journal of Medical Genetics · 1999 · 62 citations