Publications — Radcliffe Department of Medicine

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The chromatin remodeller ATRX facilitates diverse nuclear processes, in a stochastic manner, in both heterochromatin and euchromatin.

Truch J. et al, (2022), Nat Commun, 13

A gain-of-function single nucleotide variant creates a new promoter which acts as an orientation-dependent enhancer-blocker.

Bozhilov YK. et al, (2021), Nat Commun, 12

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

Olijnik A-A. et al, (2021), J Med Genet, 58, 185 - 195

An evolutionarily ancient mechanism for regulation of hemoglobin expression in vertebrate red cells.

Miyata M. et al, (2020), Blood, 136, 269 - 278

Finding Diagnostically Useful Patterns in Quantitative Phenotypic Data.

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

ATRX Contributes to MeCP2-Mediated Pericentric Heterochromatin Organization during Neural Differentiation

Marano D. et al, (2019), International Journal of Molecular Sciences, 20, 5371 - 5371

Persistence of skewed X-chromosome inactivation in pre-B acute lymphoblastic leukemia of a female ATRX mutation carrier.

Bradley CP. et al, (2019), Blood Adv, 3, 2627 - 2631

Synergistic silencing of α-globin and induction of γ-globin by histone deacetylase inhibitor, vorinostat as a potential therapy for β-thalassaemia.

Mettananda S. et al, (2019), Sci Rep, 9

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

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.

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

Refining the Primrose syndrome phenotype: A study of five patients with ZBTB20 de novo variants and a review of the literature.

Cleaver R. et al, (2019), Am J Med Genet A, 179, 344 - 349

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

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

Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language.

Blok LS. et al, (2019), Nat Commun, 10

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

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

Robust CRISPR/Cas9 Genome Editing of the HUDEP-2 Erythroid Precursor Line Using Plasmids and Single-Stranded Oligonucleotide Donors.

Moir-Meyer G. et al, (2018), Methods Protoc, 1

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

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

Mutant IDH1 Promotes Glioma Formation In Vivo.

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

Phenotypic and molecular characterization of a serum-free miniature erythroid differentiation system suitable for high-throughput screening and single-cell assays.

Mettananda S. et al, (2018), Exp Hematol, 60, 10 - 20

Anaemia among females in child-bearing age: Relative contributions, effects and interactions of α- and β-thalassaemia.

Mettananda S. et al, (2018), PLoS One, 13

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

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

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