M. Parker

发表

Large-scale discovery of novel genetic causes of developmental disorders

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

Finding Diagnostically Useful Patterns in Quantitative Phenotypic Data

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

Optimising diagnostic yield in highly penetrant genomic disease

M. Hurles, P. Danecek, K. Samocha, 2022, medRxiv.

Compound heterozygous variants in NBAS as a cause of atypical osteogenesis imperfecta.

Winston A Hide, J. Hurst, N. Bishop, 2017, Bone.

Clinical report: AN INTERSTITIAL deletion of 16p13.11 detected by array CGH in a patient with infantile spasms.

M. Balasubramanian, M. Parker, K. Smith, 2011, European journal of medical genetics.

Making new genetic diagnoses with old data: iterative reanalysis and reporting from genome-wide data in 1,133 families with developmental disorders

Tomas W. Fitzgerald, M. Hurles, J. Barrett, 2018, Genetics in Medicine.

Delineation of phenotypes and genotypes related to cohesin structural protein RAD21

R. Hennekam, Z. Tümer, F. Martínez, 2020, Human Genetics.

A novel mutation in the mitochondrial tRNASer(UCN) gene in a family with non-syndromic sensorineural hearing impairment

A. Markham, A. Davis, M. Parker, 2000, Journal of medical genetics.

Prevalence and architecture of de novo mutations in developmental disorders

Joan, Caroline, Rajan, 2017, Nature.

How genetically heterogeneous is Kabuki syndrome?: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrum

W. Reardon, A. Collins, J. Clayton-Smith, 2011, European Journal of Human Genetics.

Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing

Tomas W. Fitzgerald, G. J. Swaminathan, J. Danesh, 2016, Nature Genetics.

Mutations specific to the Rac-GEF domain of TRIO cause intellectual disability and microcephaly

D. Baralle, C. Mercer, S. Mehta, 2016, Journal of Medical Genetics.

Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling.

Michael J Parker, Katrina Tatton-Brown, Christian Gilissen, 2015, American journal of human genetics.

Mutations specific to the Rac-GEF domain of TRIO cause intellectual disability and microcephaly

S. Mehta, A. Debant, E. Seaby, 2016, Journal of Medical Genetics.

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.