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 · 477 citations · Full text

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 · 343 citations · Full text

Disease Mechanism, Genetic Disorder, Rett Syndrome +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 · 249 citations · Full text

Loss-of-function nuclear factor κB subunit 1 (NFKB1) variants are the most common monogenic cause of common variable immunodeficiency in Europeans

Paul Tuijnenburg, Hana Lango Allen, Siobhan O. Burns et al. · Journal of Allergy and Clinical Immunology · 2018 · 227 citations · Full text

Primary Immunodeficiency, Disease Susceptibility, Immune Cell Development +15

A recurrent mutation in MED12 leading to R961W causes Opitz-Kaveggia syndrome

Hiba Risheg, John M. Graham, Robin D. Clark et al. · Nature Genetics · 2007 · 192 citations

Recurrent Mutation, Genetic Disorder, Genetics +4