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Recent publications published by researchers at the MRC WIMM.

Genetic and functional insights into CDA-I prevalence and pathogenesis.

Journal article

Olijnik A-A. et al, (2020), J Med Genet

Finding Diagnostically Useful Patterns in Quantitative Phenotypic Data.

Journal article

Aitken S. et al, (2019), Am J Hum Genet, 105, 933 - 946

Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy.

Journal article

O'Donnell-Luria AH. et al, (2019), Am J Hum Genet, 104, 1210 - 1222

Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia.

Journal article

Gorman KM. et al, (2019), Am J Hum Genet, 104, 948 - 956

The macroH2A1.2 histone variant links ATRX loss to alternative telomere lengthening.

Journal article

Kim J. et al, (2019), Nat Struct Mol Biol, 26, 213 - 219

The Loss of ATRX Increases Susceptibility to Pancreatic Injury and Oncogenic KRAS in Female But Not Male Mice.

Journal article

Young CC. et al, (2019), Cell Mol Gastroenterol Hepatol, 7, 93 - 113

2 new cases of pontocerebellar hypoplasia type 10 identified by whole exome sequencing in a Turkish family.

Journal article

Wafik M. et al, (2018), Eur J Med Genet, 61, 273 - 279

Mutant IDH1 Promotes Glioma Formation In Vivo.

Journal article

Philip B. et al, (2018), Cell Rep, 23, 1553 - 1564

How to Tackle Challenging ChIP-Seq, with Long-Range Cross-Linking, Using ATRX as an Example.

Journal article

Truch J. et al, (2018), Methods Mol Biol, 1832, 105 - 130

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