B. Treacy

发表

Large-scale discovery of novel genetic causes of developmental disorders

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

Isolation and long-term culture of human preantral follicles.

S. Roy, S. Roy, B. Treacy, 1993, Fertility and sterility.

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.

Vitamin C for the common cold

R. Douglas, B. Treacy, E. Chalker, 1998 .

High efficiency of mutation detection in type 1 stickler syndrome using a two‐stage approach: vitreoretinal assessment coupled with exon sequencing for screening COL2A1

J. Whittaker, D. Baguley, P. Bearcroft, 2006, Human mutation.

Practice guidelines for the Testing for maternal cell contamination (MCC) in prenatal samples for molecular studies.

R. Mountford, A. Butler, B. Treacy, 2008 .

Vitamin C for preventing and treating the common cold.

R. Douglas, B. Treacy, E. Chalker, 2004, The Cochrane database of systematic reviews.

Vitamin C for preventing and treating the common cold.

R. Douglas, B. Treacy, R. D'Souza, 2004, The Cochrane database of systematic reviews.

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 .

Splicing analysis of unclassified variants in COL2A1 and COL11A1 identifies deep intronic pathogenic mutations

J. Whittaker, B. Treacy, K. Oakhill, 2011, European Journal of Human Genetics.

Vitamin C for preventing and treating the common cold ( Review )

R. Douglas, H. Hemilä, B. Treacy, 2022 .

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.

Stickler syndrome and the vitreous phenotype: mutations in COL2A1 and COL11A1

Howard Martin, J. Whittaker, B. Treacy, 2010, Human mutation.

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.

Vitamin C for preventing and treating the common cold.

R. Douglas, H. Hemilä, B. Treacy, 2007, The Cochrane database of systematic reviews.