R. Harrison

发表

Patterns of somatic mutation in human cancer genomes

E. Birney, A. Nicholson, M. Stratton, 2007, Nature.

A screen of the complete protein kinase gene family identifies diverse patterns of somatic mutations in human breast cancer

Andrew D. Yates, Yvonne R Stephens, A. Nicholson, 2005, Nature Genetics.

Somatic mutations of the protein kinase gene family in human lung cancer.

Andrew D. Yates, Yvonne R Stephens, A. Nicholson, 2005, Cancer research.

Functional interaction between BMPR-II and Tctex-1, a light chain of Dynein, is isoform-specific and disrupted by mutations underlying primary pulmonary hypertension.

N. Rudarakanchana, R. Trembath, R. Harrison, 2003, Human molecular genetics.

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 .

Clinical management of patients with ASXL1 mutations and Bohring–Opitz syndrome, emphasizing the need for Wilms tumor surveillance

L. Biesecker, J. Graham, C. Brownstein, 2015, American journal of medical genetics. Part A.

Investigation of Second Genetic Hits at the BMPR2 Locus as a Modulator of Disease Progression in Familial Pulmonary Arterial Hypertension

R. Trembath, R. Harrison, N. Morrell, 2005, Circulation.

BMPR2 mutations have short lifetime expectancy in primary pulmonary hypertension

J. Kere, N. Rudarakanchana, R. Trembath, 2005, Human mutation.

Insights into the Genetic and Molecular Basis of Primary Pulmonary Hypertension

R. Trembath, R. Harrison, Rachel E. Harrison, 2003, Pediatric Research.

Mutations in CUL4B, which encodes a ubiquitin E3 ligase subunit, cause an X-linked mental retardation syndrome associated with aggressive outbursts, seizures, relative macrocephaly, central obesity, hypogonadism, pes cavus, and tremor.

Andrew Menzies, Keiran Raine, Sarah Edkins, 2007, American journal of human genetics.

A hypermutation phenotype and somatic MSH6 mutations in recurrent human malignant gliomas after alkylator chemotherapy.

Tracy T Batchelor, Richard Lugg, Andrew Menzies, 2006, Cancer research.

Patterns of somatic mutation in human cancer genomes

E. Birney, A. Nicholson, M. Stratton, 2007, Nature.

Dissection of contiguous gene effects for deletions around ERF on chromosome 19

S. Twigg, A. Wilkie, H. Stewart, 2021, Human mutation.

17q12 microdeletion syndrome: Three patients illustrating the phenotypic spectrum

R. Harrison, S. Hulton, K. Yates, 2012, American Journal of Medical Genetics. Part A.

Somatic mosaicism in ACVRL1 with transmission to several offspring affected with severe pulmonary arterial hypertension

R. Harrison, P. Vasudevan, C. Ridout, 2014, American journal of medical genetics. Part A.

Stress Doppler Echocardiography in Relatives of Patients With Idiopathic and Familial Pulmonary Arterial Hypertension: Results of a Multicenter European Analysis of Pulmonary Artery Pressure Response to Exercise and Hypoxia

M. Humbert, W. Seeger, A. Torbicki, 2009, Circulation.

Mutation analysis of 24 known cancer genes in the NCI-60 cell line set

Richard Lugg, Andrew Menzies, Michael R. Stratton, 2006, Molecular Cancer Therapeutics.

Mutations in the gene encoding the Sigma 2 subunit of the adaptor protein 1 complex, AP1S2, cause X-linked mental retardation.

J. Gécz, M. Stratton, P. Futreal, 2006, American journal of human genetics.

PSMC3 proteasome subunit variants are associated with neurodevelopmental delay and type I interferon production

Meghan C Towne, E. Eichler, H. Hakonarson, 2023, Science Translational Medicine.

Transforming growth factor-beta receptor mutations and pulmonary arterial hypertension in childhood.

R. Trembath, R. Harrison, N. Morrell, 2005, Circulation.

Mutations of the TGF‐β type II receptor BMPR2 in pulmonary arterial hypertension

J. Carlquist, M. Humbert, W. Seeger, 2006, Human mutation.

De novo and biallelic DEAF1 variants cause a phenotypic spectrum

H. Mefford, J. Graham, T. Pierson, 2019, Genetics in Medicine.

Genotype-Phenotype Analysis in Congenital Adrenal Hyperplasia due to P450 Oxidoreductase Deficiency

M. Dattani, P. Hindmarsh, M. Kempers, 2011, The Journal of clinical endocrinology and metabolism.

Brain development mutations in the Î²-tubulin TUBB result in defective ciliogenesis

R. Vernon, R. Harrison, J. Forman-Kay, 2023, medRxiv.

Sequence analysis of the protein kinase gene family in human testicular germ‐cell tumors of adolescents and adults

Richard Lugg, Andrew Menzies, Keiran Raine, 2006, Genes, chromosomes & cancer.

Analysis of exome data for 4293 trios suggests GPI-anchor biogenesis defects are a rare cause of developmental disorders

A. Pagnamenta, N. Popitsch, Jenny C. Taylor, 2017, European Journal of Human Genetics.

Molecular and functional analysis identifies ALK-1 as the predominant cause of pulmonary hypertension related to hereditary haemorrhagic telangiectasia

R. Trembath, R. Harrison, N. Morrell, 2003, Journal of medical genetics.

Expanding the phenotype of ASXL3‐related syndrome: A comprehensive description of 45 unpublished individuals with inherited and de novo pathogenic variants in ASXL3

J. Graham, F. Alkuraya, N. Hauser, 2021, American journal of medical genetics. Part A.

Prenatal Diagnosis of Congenital Adrenal Hyperplasia Caused by P450 Oxidoreductase Deficiency

O. Abdul-Rahman, R. Harrison, E. Blair, 2013, The Journal of clinical endocrinology and metabolism.

Transforming Growth Factor-&bgr; Receptor Mutations and Pulmonary Arterial Hypertension in Childhood

R. Trembath, R. Harrison, N. Morrell, 2005 .

Prenatal Diagnosis of Congenital Adrenal Hyperplasia Caused by P450 Oxidoreductase Deficiency

O. Abdul-Rahman, R. Harrison, E. Blair, 2013, The Journal of clinical endocrinology and metabolism.

Hypoxia Pulmonary Arterial Hypertension : Results of a Multicenter European Analysis of Stress Doppler Echocardiography in Relatives of Patients With Idiopathic and Familial

Kathleen, M. Humbert, A. Torbicki, 2009 .

Transforming growth factor-beta receptor mutations and pulmonary arterial hypertension in childhood.

R. Trembath, R. Harrison, N. Morrell, 2005, Circulation.

Human Lung Cancer Somatic Mutations of the Protein Kinase Gene Family in Updated

Andrew D. Yates, Yvonne R Stephens, A. Nicholson, 2005 .

17q12 microdeletion syndrome: Three patients illustrating the phenotypic spectrum

R. Harrison, S. Hulton, A. Dixit, 2012, American journal of medical genetics. Part A.

De novo and biallelic DEAF1 variants cause a phenotypic spectrum

H. Mefford, J. Graham, T. Pierson, 2019, Genetics in Medicine.

Prenatal Diagnosis of Congenital Adrenal Hyperplasia Caused by P450 Oxidoreductase Deficiency

O. Abdul-Rahman, R. Harrison, E. Blair, 2013, Journal of Clinical Endocrinology and Metabolism.