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Germline mutation in NLRP2 (NALP2) in a familial imprinting disorder (Beckwith-Wiedemann Syndrome)

PLoS genetics, 2009-03, Vol.5 (3), p.e1000423-e1000423

2009

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Successful outcomes in childrens specialist weight management: Impact assessment of a novel early years weight management programme

Journal of human nutrition and dietetics, 2021-10, Vol.34 (5), p.819-826

2021

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

Journal of clinical immunology, 2016-02, Vol.36 (2), p.117-122

2016

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

Oncotarget, 2020-08, Vol.11 (34), p.3188-3197

2020

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

Radiation oncology (London, England), 2021-07, Vol.16 (1), p.129-129, Article 129

2021

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Mutations in TTC37 Cause Trichohepatoenteric Syndrome (Phenotypic Diarrhea of Infancy)

Gastroenterology (New York, N.Y. 1943), 2010-06, Vol.138 (7), p.2388-2398.e2

2010

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

Frontiers in oncology, 2022-07, Vol.12, p.920444-920444

2022

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Mutations in FLVCR2 Are Associated with Proliferative Vasculopathy and Hydranencephaly-Hydrocephaly Syndrome (Fowler Syndrome)

American journal of human genetics, 2010-03, Vol.86 (3), p.471-478

2010

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

Molecular vision, 2010-04, Vol.16, p.650-664

2010

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

Journal of clinical immunology, 2016-04, Vol.36 (3), p.336-337

2016

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

Nature biotechnology, 2018-04, Vol.36 (4), p.338-345

2018

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

Cancer epidemiology, biomarkers & prevention, 2006-04, Vol.15 (4), p.675-682

2006

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Intra-promoter switch of transcription initiation sites in proliferation signaling-dependent RNA metabolism

Nature structural & molecular biology, 2023-12, Vol.30 (12), p.1970-1984

2023

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

Science (American Association for the Advancement of Science), 2016-04, Vol.352 (6284), p.474-477

2016

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

International journal of cancer, 2003-03, Vol.103 (6), p.779-783

2003

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Childhood obesity

Medicine (Abingdon. 1995, UK ed.), 2019-03, Vol.47 (3), p.190-194

2019

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Identification of Novel Therapeutic Targets in Atm-Deficient Lymphomas Using a Whole Genome CRISPR/CAS-9 Screen

Blood, 2019-11, Vol.134 (Supplement_1), p.1504-1504

2019

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

Human reproduction (Oxford), 2009-03, Vol.24 (3), p.741-747

2009

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A HARSH TWILIGHT

Cambridge law journal, 2003-03, Vol.62 (1), p.36-39, Article S0008197303336219

Tee, Louise

2003

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

The Journal of clinical investigation, 2009-06, Vol.119 (6), p.1595-1603

2009

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

Annals of surgery, 2019-03, Vol.269 (3), p.479-485

2019

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Of Fast Food and Fir Trees

Cambridge law journal, 2002-03, Vol.61 (1), p.33-35

Tee, Louise

2002

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

Clinical epigenetics, 2014-06, Vol.6 (1), p.11-11, Article 11

2014

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Maintenance of murine platelet homeostasis by the kinase Csk and phosphatase CD148

Blood, 2018-03, Vol.131 (10), p.1122-1144

2018

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Germline mutation in NLRP2 (NALP2) in a familial imprinting disorder (Beckwith-Wiedemann Syndrome)

Successful outcomes in childrens specialist weight management: Impact assessment of a novel early years weight management programme

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

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

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

Mutations in TTC37 Cause Trichohepatoenteric Syndrome (Phenotypic Diarrhea of Infancy)

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

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

Mutations in FLVCR2 Are Associated with Proliferative Vasculopathy and Hydranencephaly-Hydrocephaly Syndrome (Fowler Syndrome)

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

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

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

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

Intra-promoter switch of transcription initiation sites in proliferation signaling-dependent RNA metabolism

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

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

Childhood obesity

Identification of Novel Therapeutic Targets in Atm-Deficient Lymphomas Using a Whole Genome CRISPR/CAS-9 Screen

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

A HARSH TWILIGHT

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

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

Of Fast Food and Fir Trees

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

Maintenance of murine platelet homeostasis by the kinase Csk and phosphatase CD148

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