A. Douglas

发表

Large-scale discovery of novel genetic causes of developmental disorders

Tomas W. Fitzgerald, M. Hurles, J. Barrett, 2014, Nature.

2018-1105 CHD 3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language

Alessandro, G. J. Swaminathan, A. Green, 2019 .

Finding Diagnostically Useful Patterns in Quantitative Phenotypic Data

G. J. Swaminathan, N. Carter, M. Hurles, 2019, American journal of human genetics.

Cytogenetics of uveal melanoma: a 7-year clinical experience.

B. Damato, S. Coupland, A. Douglas, 2007, Ophthalmology.

A death from Langerhans cell histiocytosis and tuberculosis in 18th Century Hungary - what palaeopathology can tell us today

A. Pettitt, D. Catovsky, E. Matutes, 2006 .

Imperfect correlation between p53 dysfunction and deletion of TP53 and ATM in chronic lymphocytic leukaemia

A. Pettitt, D. Catovsky, E. Matutes, 2006, Leukemia.

Conditional Hazard Estimating Neural Networks

Bertil E. Damato, Antonio Eleuteri, Angela Douglas, 2009, Encyclopedia of Artificial Intelligence.

Sperm chromosomal abnormalities are linked to sperm morphologic deformities.

A. Douglas, S. Seshadri, N. Aziz, 2003, Fertility and sterility.

Prevalence and architecture of de novo mutations in developmental disorders

Joan, Caroline, Rajan, 2017, Nature.

Prevalence, phenotype and architecture of developmental disorders caused by de novo mutation: The Deciphering Developmental Disorders Study

Joshua C Randall, Tomas W. Fitzgerald, G. J. Swaminathan, 2016, bioRxiv.

CHD 3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language

Joshua C Randall, G. J. Swaminathan, A. Green, 2019 .

The gene expression signature associated with TP53 mutation/deletion in chronic lymphocytic leukaemia is dominated by the under‐expression of TP53 and other genes on chromosome 17p

A. Pettitt, S. Stilgenbauer, T. Zenz, 2013, British journal of haematology.

Loss of MIR15A and MIR16‐1 at 13q14 is associated with increased TP53 mRNA, de‐repression of BCL2 and adverse outcome in chronic lymphocytic leukaemia

A. Pettitt, N. Kalakonda, A. Douglas, 2014, British journal of haematology.

Classification of deletions and identification of cryptic translocations involving 7q by fluorescence in situ hybridization (FISH).

S. Scherer, L. Kearney, J. Harbott, 1996, Leukemia.

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

Joshua C Randall, Tomas W. Fitzgerald, G. J. Swaminathan, 2018, Nature Communications.

Histone Lysine Methylases and Demethylases in the Landscape of Human Developmental Disorders.

Joshua C Randall, Tomas W. Fitzgerald, G. J. Swaminathan, 2018, American journal of human genetics.