L. Thomas

发表

Genetic, epigenetic and functional analysis of tumorigenesis in neurofibromatosis type 1 (NF1)

L. Thomas, 2011 .

Exploring the somatic NF1 mutational spectrum associated with NF1 cutaneous neurofibromas

D. Cooper, M. Mort, N. Thomas, 2011, European Journal of Human Genetics.

Analysis of NF1 somatic mutations in cutaneous neurofibromas from patients with high tumor burden

L. Kluwe, N. Chuzhanova, M. Upadhyaya, 2010, neurogenetics.

STAT3 and HIF1α Signaling Drives Oncogenic Cellular Phenotypes in Malignant Peripheral Nerve Sheath Tumors

M. Upadhyaya, L. Thomas, A. Tee, 2015, Molecular Cancer Research.

Evaluation of copy number variation and gene expression in neurofibromatosis type-1-associated malignant peripheral nerve sheath tumours

D. Cooper, M. Mort, M. Upadhyaya, 2015, Human Genomics.

Germline MBD4 deficiency causes a multi-tumor predisposition syndrome

M. Christie, D. Wedge, N. López-Bigas, 2022, American journal of human genetics.

Inherited MUTYH mutations cause elevated somatic mutation rates and distinctive mutational signatures in normal human cells

M. Stratton, P. Campbell, I. Martincorena, 2021, Nature Communications.

Duodenal adenomas and cancer in MUTYH-associated polyposis: an international cohort study.

M. Mort, G. Capellá, E. Dekker, 2020, Gastroenterology.

Burden and Profile of Somatic Mutation in Duodenal Adenomas from Patients with Familial Adenomatous- and MUTYH-associated Polyposis

M. Mort, Geraint T. Williams, M. Moorghen, 2017, Clinical Cancer Research.

Assessment of the potential pathogenicity of missense mutations identified in the GTPase‐activating protein (GAP)‐related domain of the neurofibromatosis type‐1 (NF1) gene

D. Cooper, M. Mort, M. Upadhyaya, 2012, Human mutation.

Microarray‐based copy number analysis of neurofibromatosis type‐1 (NF1)‐associated malignant peripheral nerve sheath tumors reveals a role for Rho–GTPase pathway genes in NF1 tumorigenesis

D. Cooper, N. Thomas, G. Spurlock, 2012, Human mutation.

Molecular heterogeneity in malignant peripheral nerve sheath tumors associated with neurofibromatosis type 1

D. Cooper, M. Upadhyaya, V. Mautner, 2012, Human Genomics.

The impact of chromoendoscopy for surveillance of the duodenum in patients with MUTYH-associated polyposis and familial adenomatous polyposis.

M. Mort, Geraint T. Williams, N. Suzuki, 2018, Gastrointestinal endoscopy.

Evaluation of copy number variation and gene expression in neurofibromatosis type-1-associated malignant peripheral nerve sheath tumours

D. Cooper, M. Mort, M. Upadhyaya, 2015, Human Genomics.

Inherited predisposition to colorectal cancer: towards a more complete picture

L. Thomas, J. Sampson, J. Hurley, 2015, Journal of Medical Genetics.

Molecular heterogeneity in malignant peripheral nerve sheath tumors associated with neurofibromatosis type 1

D. Cooper, M. Upadhyaya, V. Mautner, 2012, Human Genomics.

Secular changes in severity of intellectual disability in tuberous sclerosis complex: A reflection of improved identification and treatment of epileptic spasms?

P. Bolton, L. Thomas, J. Sampson, 2018, Epilepsia open.

APC transcription studies and molecular diagnosis of familial adenomatous polyposis

M. Mort, J. Maynard, L. Thomas, 2020, European Journal of Human Genetics.

APC transcription studies and molecular diagnosis of familial adenomatous polyposis

M. Mort, J. Maynard, L. Thomas, 2019, European Journal of Human Genetics.

Targeted Genomic Sequencing of TSC1 and TSC2 Reveals Causal Variants in Individuals for Whom Previous Genetic Testing for Tuberous Sclerosis Complex Was Normal

L. Thomas, M. Nellist, J. Sampson, 2023, Human Mutation.