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Julie Vogt | Researchclopedia

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Julie Vogt

Birmingham Women's Hospital

88

Works

4,895

Citations

36

h-index

57

i10-index

Research Topics

Genetics and Neurodevelopmental Disorders Genomics and Rare Diseases Genomic variations and chromosomal abnormalities

Affiliations

Guy's Hospital1964–1964

Mahindra Group (India)2017–2017

King's College London2020–2020

University of Cambridge2018–2018

London North West Healthcare NHS Trust2018–2019

Top Works

Evidence for 28 genetic disorders discovered by combining healthcare and research data

Joanna Kaplanis,Kaitlin E. Samocha,et al.

2020647 citations

Neurogenetic and Muscular Disorders Research

Congenital heart defects research

Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism

Morad Ansari,Gemma Poke,et al.

2014168 citations

The gain of function <i>SCN1A</i> disorder spectrum: novel epilepsy phenotypes and therapeutic implications

Andreas Brunklaus,Tobias Brünger,et al.

2022147 citations

Clinical and genetic aspects of KBG syndrome

Karen Low,Tazeen Ashraf,et al.

2016137 citations

Mutation Analysis of CHRNA1, CHRNB1, CHRND, and RAPSN Genes in Multiple Pterygium Syndrome/Fetal Akinesia Patients

Julie Vogt,Benjamin J. Harrison,et al.

2008125 citations

Loss-of-function mutations in the X-linked biglycan gene cause a severe syndromic form of thoracic aortic aneurysms and dissections

Josephina Meester,Geert Vandeweyer,et al.

2016124 citations

B56δ-related protein phosphatase 2A dysfunction identified in patients with intellectual disability

Gunnar Houge,Dorien Haesen,et al.

2015123 citations

De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability Syndrome

Jung‐Hyun Kim,Deepali N. Shinde,et al.

2016112 citations

De Novo Loss-of-Function Mutations in USP9X Cause a Female-Specific Recognizable Syndrome with Developmental Delay and Congenital Malformations

Margot R.F. Reijnders,Vasilios Zachariadis,et al.

2016108 citations