Hatem El‐Shanti

An Autoinflammatory Disease with Deficiency of the Interleukin-1–Receptor Antagonist

Ivona Aksentijevich, Seth L. Masters, Polly J. Ferguson et al. · New England Journal of Medicine · 2009 · 992 citations · Full text

Medicine, Immunology, Pathology +17

Independent Introduction of Two Lactase-Persistence Alleles into Human Populations Reflects Different History of Adaptation to Milk Culture

Nabil Enattah, Tine G.K. Jensen, Mette Ødegaard Nielsen et al. · The American Journal of Human Genetics · 2008 · 343 citations · Full text

Life Sciences, Genetics, Molecular Genetics +9

A Homozygous Mutation in a Novel Zinc-Finger Protein, ERIS, Is Responsible for Wolfram Syndrome 2

Sami S. Amr, Cindy Heisey, Min Zhang et al. · The American Journal of Human Genetics · 2007 · 284 citations · Full text

Life Sciences, Genetics, Molecular Genetics +9

The infevers autoinflammatory mutation online registry: update with new genes and functions

Florian Milhavet, Laurence Cuisset, Hal M. Hoffman et al. · Human Mutation · 2008 · 281 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Mutations in the CCN gene family member WISP3 cause progressive pseudorheumatoid dysplasia

Jennifer Hurvitz, Wafaa M. Suwairi, Wim Van Hul et al. · Nature Genetics · 1999 · 278 citations

Life Sciences, Genetics, Molecular Genetics +7