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Mutations in GATA2 cause primary lymphedema associated with a predisposition to acute myeloid leukemia (Emberger syndrome)

Nature genetics, 2011-10, Vol.43 (10), p.929-931

2011

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Mutations in KIF11 Cause Autosomal-Dominant Microcephaly Variably Associated with Congenital Lymphedema and Chorioretinopathy

American journal of human genetics, 2012-02, Vol.90 (2), p.356-362

2012

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FLT4/VEGFR3 and Milroy Disease: Novel Mutations, a Review of Published Variants and Database Update

Human mutation, 2013-01, Vol.34 (1), p.23-31

2013

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Chemotherapy regimens induce inhibitory immune checkpoint protein expression on stem-like and senescent-like oesophageal adenocarcinoma cells

Translational oncology, 2021-06, Vol.14 (6), p.101062-101062, Article 101062

2021

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PD-1 blockade attenuates surgery-mediated immunosuppression and boosts Th1 immunity perioperatively in oesophagogastric junctional adenocarcinoma

Frontiers in immunology, 2023-06, Vol.14, p.1150754-1150754

2023

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Cooperation between chemotherapy and immune checkpoint blockade to enhance anti-tumour T cell immunity in oesophageal adenocarcinoma

Translational oncology, 2022-06, Vol.20, p.101406, Article 101406

2022

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Clinical and molecular consequences of disease-associated de novo mutations in SATB2

Genetics in medicine, 2017-08, Vol.19 (8), p.900-908

2017

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PD-1 and TIGIT blockade differentially affect tumour cell survival under hypoxia and glucose deprived conditions in oesophageal adenocarcinoma; implications for overcoming resistance to PD-1 blockade in hypoxic tumours

Translational oncology, 2022-05, Vol.19, p.101381-101381, Article 101381

2022

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Microcephaly with or without chorioretinopathy, lymphoedema, or mental retardation (MCLMR): review of phenotype associated with KIF11 mutations

European journal of human genetics : EJHG, 2014-07, Vol.22 (7), p.881-887

2014

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Rapid identification of mutations in GJC2 in primary lymphoedema using whole exome sequencing combined with linkage analysis with delineation of the phenotype

Journal of medical genetics, 2011-04, Vol.48 (4), p.251-255

2011

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FLOT and CROSS chemotherapy regimens alter the frequency of CD27+ and CD69+ T cells in oesophagogastric adenocarcinomas: implications for combination with immunotherapy

Journal of cancer research and clinical oncology, 2023-07, Vol.149 (7), p.3753-3774

2023

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776 A role for immune checkpoint blockade to enhance T cell-mediated responses in combination with chemotherapy in oesophageal adenocarcinoma

Journal for immunotherapy of cancer, 2020-11, Vol.8 (Suppl 3), p.A465-A467

2020

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FLT 4 / VEGFR 3 and Milroy Disease: Novel Mutations, a Review of Published Variants and Database Update

Human mutation, 2013-01, Vol.34 (1), p.23-31

2013

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Prevalence and architecture of de novo mutations in developmental disorders

Nature (London), 2017-02, Vol.542 (7642), p.433-438

2017

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Pierpont syndrome: A collaborative study

American journal of medical genetics. Part A, 2011-09, Vol.155 (9), p.2203-2211

2011

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Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research data

The Lancet (British edition), 2015-04, Vol.385 (9975), p.1305-1314

2015

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Genomic Diagnosis of Rare Pediatric Disease in the United Kingdom and Ireland

The New England journal of medicine, 2023-04, Vol.388 (17), p.1559-1571

2023

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Histone Lysine Methylases and Demethylases in the Landscape of Human Developmental Disorders

American journal of human genetics, 2018-01, Vol.102 (1), p.175-187

2018

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Phenotypic Characterization of Primary Lymphedema

Annals of the New York Academy of Sciences, 2008-05, Vol.1131 (1), p.140-146

2008

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Mutation in Vascular Endothelial Growth Factor-C, a Ligand for Vascular Endothelial Growth Factor Receptor-3, Is Associated With Autosomal Dominant Milroy-Like Primary Lymphedema

Circulation research, 2013-03, Vol.112 (6), p.956-960

2013

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CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language

Nature communications, 2018-11, Vol.9 (1), p.4619-12, Article 4619

2018

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Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy

American journal of human genetics, 2019-06, Vol.104 (6), p.1210-1222

2019

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Identification of Ligand-binding Site III on the Immunoglobulin-like Domain of the Granulocyte Colony-stimulating Factor Receptor

The Journal of biological chemistry, 2001-09, Vol.276 (39), p.36779-36787

2001

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Visceral adipose tissue secretome from early and late-stage oesophageal cancer patients differentially affects effector and regulatory T cells

Journal of cancer research and clinical oncology, 2023-08, Vol.149 (9), p.6583-6599

2023

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Clinical and molecular consequences of disease-associated de novo mutations in SATB2

Genetics in medicine, 2017-08, Vol.19 (8), p.900-908

2017

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Mutations in GATA2 cause primary lymphedema associated with a predisposition to acute myeloid leukemia (Emberger syndrome)

Mutations in KIF11 Cause Autosomal-Dominant Microcephaly Variably Associated with Congenital Lymphedema and Chorioretinopathy

FLT4/VEGFR3 and Milroy Disease: Novel Mutations, a Review of Published Variants and Database Update

Chemotherapy regimens induce inhibitory immune checkpoint protein expression on stem-like and senescent-like oesophageal adenocarcinoma cells

PD-1 blockade attenuates surgery-mediated immunosuppression and boosts Th1 immunity perioperatively in oesophagogastric junctional adenocarcinoma

Cooperation between chemotherapy and immune checkpoint blockade to enhance anti-tumour T cell immunity in oesophageal adenocarcinoma

Clinical and molecular consequences of disease-associated de novo mutations in SATB2

PD-1 and TIGIT blockade differentially affect tumour cell survival under hypoxia and glucose deprived conditions in oesophageal adenocarcinoma; implications for overcoming resistance to PD-1 blockade in hypoxic tumours

Microcephaly with or without chorioretinopathy, lymphoedema, or mental retardation (MCLMR): review of phenotype associated with KIF11 mutations

Rapid identification of mutations in GJC2 in primary lymphoedema using whole exome sequencing combined with linkage analysis with delineation of the phenotype

FLOT and CROSS chemotherapy regimens alter the frequency of CD27+ and CD69+ T cells in oesophagogastric adenocarcinomas: implications for combination with immunotherapy

776 A role for immune checkpoint blockade to enhance T cell-mediated responses in combination with chemotherapy in oesophageal adenocarcinoma

FLT 4 / VEGFR 3 and Milroy Disease: Novel Mutations, a Review of Published Variants and Database Update

Prevalence and architecture of de novo mutations in developmental disorders

Pierpont syndrome: A collaborative study

Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research data

Genomic Diagnosis of Rare Pediatric Disease in the United Kingdom and Ireland

Histone Lysine Methylases and Demethylases in the Landscape of Human Developmental Disorders

Phenotypic Characterization of Primary Lymphedema

Mutation in Vascular Endothelial Growth Factor-C, a Ligand for Vascular Endothelial Growth Factor Receptor-3, Is Associated With Autosomal Dominant Milroy-Like Primary Lymphedema

CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language

Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy

Identification of Ligand-binding Site III on the Immunoglobulin-like Domain of the Granulocyte Colony-stimulating Factor Receptor

Visceral adipose tissue secretome from early and late-stage oesophageal cancer patients differentially affects effector and regulatory T cells

Clinical and molecular consequences of disease-associated de novo mutations in SATB2

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