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John C. Mulley | Researchclopedia

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John C. Mulley

264

Works

24,777

Citations

81

h-index

188

i10-index

Research Topics

Genetics and Neurodevelopmental Disorders Epilepsy research and treatment Genomic variations and chromosomal abnormalities

Affiliations

South Australia Pathology1999–2015

Boston Children's Hospital1989–2012

Royal Children's Hospital2006–2008

Los Alamos National Laboratory1993–1993

Inserm2008–2008

Top Works

Germline Mutations in the Extracellular Domains of the 55 kDa TNF Receptor, TNFR1, Define a Family of Dominantly Inherited Autoinflammatory Syndromes

Michael McDermott,Ivona Aksentijevich,et al.

19991,409 citations

Genomics and Rare Diseases

Ion channel regulation and function

A missense mutation in the neuronal nicotinic acetylcholine receptor α4 subunit is associated with autosomal dominant nocturnal frontal lobe epilepsy

Ortrud K. Steinlein,John C. Mulley,et al.

19951,131 citations

Febrile seizures and generalized epilepsy associated with a mutation in the Na+-channel ß1 subunit gene SCN1B

Robyn H. Wallace,Dao Wen Wang,et al.

19981,000 citations

Fragile X Genotype Characterized by an Unstable Region of DNA

Shuancang Yu,Melanie Pritchard,et al.

1991798 citations

Mutant GABAA receptor γ2-subunit in childhood absence epilepsy and febrile seizures

Robyn H. Wallace,Carla Marini,et al.

2001782 citations

The spectrum of SCN1A-related infantile epileptic encephalopathies

Louise A. Harkin,Jacinta M. McMahon,et al.

2007527 citations

<i>KCNQ2</i> encephalopathy: Emerging phenotype of a neonatal epileptic encephalopathy

Sarah Weckhuysen,Simone Mandelstam,et al.

2011504 citations

PAK3 mutation in nonsyndromic X-linked mental retardation

Kristina M. Allen,Joseph G. Gleeson,et al.

1998469 citations

X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment

Leanne M. Dibbens,Patrick Tarpey,et al.

2008444 citations