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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

ATR-16 syndrome: mechanisms linking monosomy to phenotype.

Journal article

Babbs C. et al, (2020), J Med Genet, 57, 414 - 421

Variable cells with identical genetic codes.

Journal article

Babbs C. and Higgs DR., (2020), Blood, 135, 1921 - 1922

Modelling Calvarial Development in Mice Using Finite Element Method

Conference paper

Moazen M. et al, (2019), JOURNAL OF MORPHOLOGY, 280, S24 - S24

Germline selection shapes human mitochondrial DNA diversity.

Journal article

Wei W. et al, (2019), Science, 364

The pathogenesis, diagnosis and management of congenital dyserythropoietic anaemia type I.

Journal article

Roy NBA. and Babbs C., (2019), Br J Haematol, 185, 436 - 449

Biomechanics of craniofacial development in mice

Conference paper

Moazen M. et al, (2019), FASEB JOURNAL, 33

Whole genome sequencing for the investigation of rare anaemias: Challenges and real-world outcomes

Conference paper

Brierley C. et al, (2019), BRITISH JOURNAL OF HAEMATOLOGY, 185, 115 - 116

Characterizing and Modeling Bone Formation during Mouse Calvarial Development.

Journal article

Marghoub A. et al, (2019), Phys Rev Lett, 122

De Novo Truncating Mutations in WASF1 Cause Intellectual Disability with Seizures.

Journal article

Ito Y. et al, (2018), Am J Hum Genet, 103, 144 - 153

Predicting calvarial growth in normal and craniosynostotic mice using a computational approach.

Journal article

Marghoub A. et al, (2018), J Anat, 232, 440 - 448

An international registry of survivors with Hb Bart's hydrops fetalis syndrome.

Journal article

Songdej D. et al, (2017), Blood, 129, 1251 - 1259

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