Julie R. Jones

Deletion of PPARγ in adipose tissues of mice protects against high fat diet-induced obesity and insulin resistance

Julie R. Jones, Cordelia J. Barrick, Kyoung‐Ah Kim et al. · Proceedings of the National Academy of Sciences · 2005 · 479 citations · Full text

Life Sciences, Endocrinology, Physiology +17

A previously unidentified MECP2 open reading frame defines a new protein isoform relevant to Rett syndrome

Gevork N. Mnatzakanian, Hannes Lohi, Iulia Munteanu et al. · Nature Genetics · 2004 · 346 citations

Life Sciences, Genetics, Molecular Biology +6

<i>GRIN2B</i> encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects

Konrad Platzer, Hongjie Yuan, Hannah M. Schutz et al. · Journal of Medical Genetics · 2017 · 256 citations · Full text

Life Sciences, Neurology, Neuroscience +17

Evidence that Systemic Gentamicin Suppresses Premature Stop Mutations in Patients with Cystic Fibrosis

John P. Clancy, Zsuzsa Bebők, F. Ruiz et al. · American Journal of Respiratory and Critical Care Medicine · 2001 · 249 citations

Pharmacy, Pharmacology, Pharmacotherapy +12

Whole-genome sequencing of a sporadic primary immunodeficiency cohort

James Thaventhiran, Hana Lango Allen, Oliver S. Burren et al. · Nature · 2020 · 242 citations · Full text

Life Sciences, Immunology, Molecular Genetics +13