L. Tee

发表

Nanopore sequencing and assembly of a human genome with ultra-long reads

Brent S. Pedersen, Ian T. Fiddes, Karen H. Miga, 2017, Nature Biotechnology.

Mutations of the catalytic subunit of RAB3GAP cause Warburg Micro syndrome

Colin A. Johnson, D. Horn, S. Mundlos, 2005, Nature Genetics.

CHEK2*1100delC and susceptibility to breast cancer: a collaborative analysis involving 10,860 breast cancer cases and 9,065 controls from 10 studies.

Nazneen Rahman, Michael Bremer, Julian Peto, 2004, American journal of human genetics.

Association of the Progesterone Receptor Gene with Breast Cancer Risk: A Single-Nucleotide Polymorphism Tagging Approach

B. Ponder, D. Easton, P. Pharoah, 2006, Cancer Epidemiology Biomarkers & Prevention.

The patched polymorphism Pro1315Leu (C3944T) may modulate the association between use of oral contraceptives and breast cancer risk

J. Chang-Claude, M. Wjst, P. Pharoah, 2003, International journal of cancer.

Epimutation profiling in Beckwith-Wiedemann syndrome: relationship with assisted reproductive technology

H. Stewart, Marie-Odile Baudement, L. Tee, 2013, Clinical Epigenetics.

Clinical and molecular genetic features of Beckwith-Wiedemann syndrome associated with assisted reproductive technologies.

W. Reik, S. Bowdin, E. Blair, 2008, Human reproduction.

Germline Mutation in NLRP2 (NALP2) in a Familial Imprinting Disorder (Beckwith-Wiedemann Syndrome)

W. Reik, F. Rahman, J. Yates, 2009, PLoS genetics.

Health and population effects of rare gene knockouts in adult humans with related parents

Harry Hemingway, Richard Durbin, Daniel G. MacArthur, 2015, Science.

Identification of novel TYR and TYRP1 mutations in oculocutaneous albinism

T. Forshew, S. Khaliq, L. Tee, 2005, Clinical genetics.

Mutations in TTC37 cause trichohepatoenteric syndrome (phenotypic diarrhea of infancy).

D. Chitayat, S. Watson, M. Donowitz, 2010, Gastroenterology.

Comparison of the clinical scoring systems in Silver–Russell syndrome and development of modified diagnostic criteria to guide molecular genetic testing

L. Tee, E. Maher, T. Barrett, 2013, Journal of Medical Genetics.

Nonsense mutation in TMEM126A causing autosomal recessive optic atrophy and auditory neuropathy

F. Rahman, M. Michaelides, A. Moore, 2010, Molecular vision.

Patient Derived Organoids Confirm That PI3K/AKT Signalling Is an Escape Pathway for Radioresistance and a Target for Therapy in Rectal Cancer

Tariq Hassaneen Ismail, C. Yau, A. Beggs, 2021, bioRxiv.

Homozygous loss-of-function mutations in the gene encoding the dopamine transporter are associated with infantile parkinsonism-dystonia.

Paul Gissen, Shu-Yuan Cheng, M. Reith, 2009, The Journal of clinical investigation.

Germline mutations in RYR1 are associated with foetal akinesia deformation sequence/lethal multiple pterygium syndrome

Soo-Mi Park, M. Weiss, K. Stuurman, 2014, Acta neuropathologica communications.

Mutations in FLVCR2 are associated with proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome (Fowler syndrome).

C. Fallet-Bianco, C. Ricketts, R. Trembath, 2010, American journal of human genetics.

Role of CHEK2*1100delC in unselected series of non‐BRCA1/2 male breast cancers

D. Easton, A. Dunning, P. Pharoah, 2004, International journal of cancer.

A combination of mutations in AKR1D1 and SKIV2L in a family with severe infantile liver disease

Rachel M. Brown, M. Simpson, R. Trembath, 2013, Orphanet Journal of Rare Diseases.

Methylation analysis and diagnostics of Beckwith-Wiedemann syndrome in 1,000 subjects

L. Tee, E. Maher, P. Nightingale, 2014, Clinical Epigenetics.

Methylation analysis and diagnostics of Beckwith-Wiedemann syndrome in 1,000 subjects

L. Tee, P. Nightingale, J. Berg, 2014, Clinical Epigenetics.

Epimutation profiling in Beckwith-Wiedemann syndrome: relationship with assisted reproductive technology

H. Stewart, Marie-Odile Baudement, L. Tee, 2013, Clinical Epigenetics.

Locus heterogeneity in autosomal recessive congenital cataracts: linkage to 9q and germline HSF4 mutations

Colin A. Johnson, S. Q. Mehdi, T. Forshew, 2005, Human Genetics.

The transmembrane protein meckelin (MKS3) is mutated in Meckel-Gruber syndrome and the wpk rat

Colin A. Johnson, R. Trembath, V. Torres, 2006, Nature Genetics.

Clinical and molecular genetic features of ARC syndrome

Colin A. Johnson, E. Génin, H. Mandel, 2006, Human Genetics.

Complete response to neoadjuvant chemoradiotherapy in rectal cancer is associated with RAS/AKT mutations and high tumour mutational burden

A. Beggs, J. James, T. Nieto, 2021, Radiation oncology.

Response to neoadjuvant chemoradiotherapy in rectal cancer is associated with RAS/AKT pathway dysregulation and high tumour mutational burden

Andrew D Beggs, A. Beggs, J. James, 2020 .

Evidence that autosomal recessive spastic cerebral palsy-1 (CPSQ1) is caused by a missense variant in HPDL

Bryndís Yngvadóttir, E. Reid, L. Tee, 2020, Brain communications.

Erratum to: Defective Leukocyte Adhesion and Chemotaxis Contributes to Combined Immunodeficiency in Humans with Autosomal Recessive MST1 Deficiency

Simi Ali, L. Tee, E. Maher, 2016, Journal of Clinical Immunology.

Defective Leukocyte Adhesion and Chemotaxis Contributes to Combined Immunodeficiency in Humans with Autosomal Recessive MST1 Deficiency

Simi Ali, L. Tee, E. Maher, 2016, Journal of Clinical Immunology.

Polymorphisms associated with circulating sex hormone levels in postmenopausal women.

B. Ponder, M. Dowsett, D. Easton, 2005, Journal of the National Cancer Institute.

Paradox breaker BRAF inhibitors have comparable potency and MAPK pathway reactivation to encorafenib in BRAF mutant colorectal cancer

A. Beggs, G. Middleton, L. Tee, 2020, Oncotarget.

University of Birmingham Germline Mutation in NLRP2 (NALP2) in a Familial Imprinting Disorder (Beckwith-Wiedemann Syndrome)

W. Reik, F. Rahman, J. Yates, 2009 .

Locus heterogeneity and Knobloch syndrome

S. Khaliq, L. Tee, E. Maher, 2010, American journal of medical genetics. Part A.

Promoter mutation is a common variant in GJC2-associated Pelizaeus-Merzbacher-like disease.

R. Trembath, M. Kurian, M. S. van der Knaap, 2011, Molecular genetics and metabolism.

Whole Genome Methylation Analysis of Nondysplastic Barrett sses to Invasive Cancer Esophagus that Progre

A. Beggs, J. James, T. Nieto, 2019 .

MHC Class II is Induced by IFNγ and Follows Three Distinct Patterns of Expression in Colorectal Cancer Organoids

A. Beggs, L. Tee, A. Ptasinska, 2023, Cancer research communications.

Whole genome methylation analysis of non-dysplastic Barretts oesophagus that progresses to invasive cancer

A. Beggs, J. James, T. Nieto, 2017, bioRxiv.

Mutations in TTC37 cause trichohepatoenteric syndrome (phenotypic diarrhea of infancy).

D. Chitayat, S. Watson, M. Donowitz, 2010, Gastroenterology.

Clinical and molecular genetic features of Beckwith-Wiedemann syndrome associated with assisted reproductive technologies.

W. Reik, S. Bowdin, E. Blair, 2008, Human reproduction.

O6-1 Loss-of-function mutations in the gene encoding the dopamine transporter, SLC6A3, cause Infantile Parkinsonism Dystonia (IPD)

S. Heales, J. Zhen, M. Kurian, 2009 .

Whole Genome Methylation Analysis of Nondysplastic Barrett Esophagus that Progresses to Invasive Cancer

A. Beggs, J. James, T. Nieto, 2018, Annals of surgery.