Madeleine D. Harbison

Nonsense mutation in the human growth hormone-releasing hormone receptor causes growth failure analogous to the little (lit) mouse

Michael P. Wajnrajch, Joseph M. Gertner, Madeleine D. Harbison et al. · Nature Genetics · 1996 · 321 citations

Medicine, Genetics, Molecular Genetics +14

A prospective study validating a clinical scoring system and demonstrating phenotypical-genotypical correlations in Silver-Russell syndrome

Salah Azzi, Jennifer Ben Salem, Nathalie Thibaud et al. · Journal of Medical Genetics · 2015 · 218 citations · Full text

Life Sciences, Genetics, Pediatrics +17

A mutation in the HSD11B2 gene in a family with apparent mineralocorticoid excess.

Robert C. Wilson, Zygmunt S. Krozowski, K. Li et al. · The Journal of Clinical Endocrinology & Metabolism · 1995 · 198 citations

Life Sciences, Genetics, Molecular Genetics +12

Examination of Genotype and Phenotype Relationships in 14 Patients with Apparent Mineralocorticoid Excess¹

Swati Dave-Sharma, Robert Wilson, Madeleine D. Harbison et al. · The Journal of Clinical Endocrinology & Metabolism · 1998 · 177 citations · Full text

Medicine, Endocrinology, Biochemical Genetics +14

Genetic disruption of the oncogenic HMGA2–PLAG1–IGF2 pathway causes fetal growth restriction

Walid Abi Habib, Frédéric Brioude, Thomas Édouard et al. · Genetics in Medicine · 2017 · 137 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17