J. Willoughby

发表

Delineating the phenotypic spectrum of Bainbridge-Ropers syndrome: 12 new patients with de novo, heterozygous, loss-of-function mutations in ASXL3 and review of published literature

H. Firth, A. Fry, D. Pilz, 2017, Journal of Medical Genetics.

A 7q21.11 microdeletion presenting with apparent intellectual disability without epilepsy

A. McNeill, J. Willoughby, Azeem Siddique, 2017, American journal of medical genetics. Part A.

De novo SETD5 loss‐of‐function variant as a cause for intellectual disability in a 10‐year old boy with an aberrant blind ending bronchus

M. Balasubramanian, C. Green, J. Willoughby, 2017, American journal of medical genetics. Part A.

Functional mRNA analysis reveals aberrant splicing caused by novel intronic mutation in WDR45 in NBIA patient

M. Kurian, M. Balasubramanian, A. Desurkar, 2018, American journal of medical genetics. Part A.

Assessment of droplet digital polymerase chain reaction for measuring BCR‐ABL1 in chronic myeloid leukaemia in an international interlaboratory study

L. Beppu, E. Ma, W. Tang, 2021, British journal of haematology.

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

Patrick J. Short, M. Hurles, L. Vissers, 2020, Nature.

The contribution of X-linked coding variation to severe developmental disorders

M. Hurles, R. Sandford, D. Baralle, 2020, Nature Communications.

Genomics for paediatricians: promises and pitfalls

M. Parker, J. Willoughby, C. Hammond, 2018, Archives of Disease in Childhood.

Cerebrofaciothoracic dysplasia: Four new patients with a recurrent TMCO1 pathogenic variant

A. Offiah, Diana S. Johnson, J. Berg, 2019, American journal of medical genetics. Part A.

De novo mutations in HNRNPU result in a neurodevelopmental syndrome

Z. Stark, S. Sadedin, M. Balasubramanian, 2017, American journal of medical genetics. Part A.

Exploring the association between SRPX2 variants and neurodevelopment: How causal is it?

V. Mcconnell, M. Balasubramanian, Schaida Schirwani, 2019, Gene.

Deep phenotyping of 14 new patients with IQSEC2 variants, including monozygotic twins of discordant phenotype

J. Clayton-Smith, K. Lachlan, J. Morton, 2019, Clinical genetics.

Genotype-phenotype variability of DARS mutation - case reports of a trio of siblings

Diana S. Johnson, D. Study, D. Connolly, 2020 .