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Use of prenatal chromosomal microarray: prospective cohort study and systematic review and meta‐analysis

Ultrasound in obstetrics & gynecology, 2013-06, Vol.41 (6), p.610-620

2013

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Genome-wide methylation analysis identifies epigenetically inactivated candidate tumour suppressor genes in renal cell carcinoma

Oncogene, 2011-03, Vol.30 (12), p.1390-1401

2011

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Additional information from array comparative genomic hybridization technology over conventional karyotyping in prenatal diagnosis: a systematic review and meta‐analysis

Ultrasound in obstetrics & gynecology, 2011-01, Vol.37 (1), p.6-14

2011

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Fetal exome sequencing for isolated increased nuchal translucency: should we be doing it?

BJOG : an international journal of obstetrics and gynaecology, 2022-01, Vol.129 (1), p.52-61

2022

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Identification of candidate tumour suppressor genes frequently methylated in renal cell carcinoma

Oncogene, 2010-04, Vol.29 (14), p.2104-2117

2010

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Assisted reproductive therapies and imprinting disorders—a preliminary British survey

Human reproduction (Oxford), 2006-04, Vol.21 (4), p.1009-1011

2006

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Evidence to Support the Clinical Utility of Prenatal Exome Sequencing in Evaluation of the Fetus with Congenital Anomalies: Scientific Impact Paper No. 64 [February] 2021

BJOG : an international journal of obstetrics and gynaecology, 2021-08, Vol.128 (9), p.e39-e50

2021

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Recent Advances in Imprinting Disorders

Clinical genetics, 2017-01, Vol.91 (1), p.3-13

2017

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Epigenetic inactivation of SLIT3 and SLIT1 genes in human cancers

British journal of cancer, 2004-12, Vol.91 (12), p.2071-2078

2004

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Risk of breast cancer in male BRCA2 carriers

Journal of medical genetics, 2010-10, Vol.47 (10), p.710-711

2010

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Phenotypic spectrum of neurodegeneration associated with mutations in the PLA2G6 gene (PLAN)

Neurology, 2008-04, Vol.70 (18), p.1623

2008

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Epigenotype–phenotype correlations in Silver–Russell syndrome

Journal of medical genetics, 2010-11, Vol.47 (11), p.760-768

2010

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The RASSF8 candidate tumor suppressor inhibits cell growth and regulates the Wnt and NF-κB signaling pathways

Oncogene, 2010-07, Vol.29 (30), p.4307-4316

2010

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Epigenetic inactivation of the RASSF10 candidate tumor suppressor gene is a frequent and an early event in gliomagenesis

Oncogene, 2011-02, Vol.30 (8), p.978-989

2011

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Beckwith-Wiedemann syndrome and assisted reproduction technology (ART)

Journal of medical genetics, 2003-01, Vol.40 (1), p.62-64

2003

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Hypoxia Inducible Factor-α Binding and Ubiquitylation by the von Hippel-Lindau Tumor Suppressor Protein

The Journal of biological chemistry, 2000-08, Vol.275 (33), p.25733-25741

2000

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Germline E-cadherin Gene (CDH1) Mutations Predispose to Familial Gastric Cancer and Colorectal Cancer

Human molecular genetics, 1999-04, Vol.8 (4), p.607-610

1999

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Germline mutation in DOK7 associated with fetal akinesia deformation sequence

Journal of medical genetics, 2009-05, Vol.46 (5), p.338-340

2009

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The tumour suppressor protein VHL targets hypoxia-inducible factors for oxygen-dependent proteolysis

Nature (London), 1999-05, Vol.399 (6733), p.271-275

1999

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Microarray comparative genomic hybridization in prenatal diagnosis: a review

Ultrasound in obstetrics & gynecology, 2012-10, Vol.40 (4), p.385-391

2012

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Phenocopies in BRCA1 and BRCA2 families: evidence for modifier genes and implications for screening

Journal of medical genetics, 2007-01, Vol.44 (1), p.10-15

2007

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Genome-wide DNA methylation profiling of recurrent and non-recurrent chordomas

Epigenetics, 2015-01, Vol.10 (3), p.213-220

2015

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Identification of a novel mutation disrupting the DNA binding activity of GCM2 in autosomal recessive familial isolated hypoparathyroidism

Journal of medical genetics, 2005-05, Vol.42 (5), p.443-448

2005

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Germline SDHB Mutations and Familial Renal Cell Carcinoma

JNCI : Journal of the National Cancer Institute, 2008-09, Vol.100 (17), p.1260-1262

2008

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Methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA) robustly detects and distinguishes 11p15 abnormalities associated with overgrowth and growth retardation

Journal of medical genetics, 2008-02, Vol.45 (2), p.106-113

2008

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Use of prenatal chromosomal microarray: prospective cohort study and systematic review and meta‐analysis

Genome-wide methylation analysis identifies epigenetically inactivated candidate tumour suppressor genes in renal cell carcinoma

Additional information from array comparative genomic hybridization technology over conventional karyotyping in prenatal diagnosis: a systematic review and meta‐analysis

Fetal exome sequencing for isolated increased nuchal translucency: should we be doing it?

Identification of candidate tumour suppressor genes frequently methylated in renal cell carcinoma

Assisted reproductive therapies and imprinting disorders—a preliminary British survey

Evidence to Support the Clinical Utility of Prenatal Exome Sequencing in Evaluation of the Fetus with Congenital Anomalies: Scientific Impact Paper No. 64 [February] 2021

Recent Advances in Imprinting Disorders

Epigenetic inactivation of SLIT3 and SLIT1 genes in human cancers

Risk of breast cancer in male BRCA2 carriers

Phenotypic spectrum of neurodegeneration associated with mutations in the PLA2G6 gene (PLAN)

Epigenotype–phenotype correlations in Silver–Russell syndrome

The RASSF8 candidate tumor suppressor inhibits cell growth and regulates the Wnt and NF-κB signaling pathways

Epigenetic inactivation of the RASSF10 candidate tumor suppressor gene is a frequent and an early event in gliomagenesis

Beckwith-Wiedemann syndrome and assisted reproduction technology (ART)

Hypoxia Inducible Factor-α Binding and Ubiquitylation by the von Hippel-Lindau Tumor Suppressor Protein

Germline E-cadherin Gene (CDH1) Mutations Predispose to Familial Gastric Cancer and Colorectal Cancer

Germline mutation in DOK7 associated with fetal akinesia deformation sequence

The tumour suppressor protein VHL targets hypoxia-inducible factors for oxygen-dependent proteolysis

Microarray comparative genomic hybridization in prenatal diagnosis: a review

Phenocopies in BRCA1 and BRCA2 families: evidence for modifier genes and implications for screening

Genome-wide DNA methylation profiling of recurrent and non-recurrent chordomas

Identification of a novel mutation disrupting the DNA binding activity of GCM2 in autosomal recessive familial isolated hypoparathyroidism

Germline SDHB Mutations and Familial Renal Cell Carcinoma

Methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA) robustly detects and distinguishes 11p15 abnormalities associated with overgrowth and growth retardation

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