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The 100 000 Genomes Project: bringing whole genome sequencing to the NHS

BMJ (Online), 2018-04, Vol.361, p.k1687

2018

Volltextzugriff (PDF)

Monitoring chronic lymphocytic leukemia progression by whole genome sequencing reveals heterogeneous clonal evolution patterns

Blood, 2012-11, Vol.120 (20), p.4191-4196

2012

Volltextzugriff (PDF)

A novel 33‐Gene targeted resequencing panel provides accurate, clinical‐grade diagnosis and improves patient management for rare inherited anaemias

British journal of haematology, 2016-10, Vol.175 (2), p.318-330

2016

Volltextzugriff (PDF)

Clinical applicability and cost of a 46-gene panel for genomic analysis of solid tumours: Retrospective validation and prospective audit in the UK National Health Service

PLoS medicine, 2017-02, Vol.14 (2), p.e1002230-e1002230

2017

Volltextzugriff (PDF)

Ten novel mutations in the erythroid transcription factor KLF1 gene associated with increased fetal hemoglobin levels in adults

Haematologica (Roma), 2012-03, Vol.97 (3), p.340-343

2012

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Eleven Cases of Hb J-Paris-I [ HBA2 : c.38C>A (or HBA1 )]: A Stable α Chain Variant Elutes in the P3 Window on High-Performance Liquid Chromatography

Hemoglobin, 2021-09, Vol.45 (5), p.322-324

2021

Volltextzugriff (PDF)

Eight Cases of Hb Winnipeg [ HBA2 : c.226G>T (or HBA1 )]: A Detailed Study

Hemoglobin, 2021-07, Vol.45 (4), p.256-258

2021

Volltextzugriff (PDF)

Fifteen Cases of Hb J-Meerut: The Rare Association with Hb E and/or HBA1 : c.-24C>G (or HBA2 ) Variants

Hemoglobin, 2020-09, Vol.44 (5), p.364-367

2020

Volltextzugriff (PDF)

Targeted Next-Generation Sequencing of Plasma DNA from Cancer Patients: Factors Influencing Consistency with Tumour DNA and Prospective Investigation of Its Utility for Diagnosis

PloS one, 2016-09, Vol.11 (9), p.e0162809-e0162809

2016

Volltextzugriff (PDF)

Twelve Cases of Hb Manitoba [α102(G9)Ser→Arg]: the Fluctuation in the Variant Expression

Hemoglobin, 2020-11, Vol.44 (6), p.442-445

2020

Volltextzugriff (PDF)

Hb Calgary (HBB: c.194G>T): A Highly Unstable Hemoglobin Variant with a β-Thalassemia Major Phenotype

Hemoglobin, 2021-07, Vol.45 (4), p.215-219

2021

Volltextzugriff (PDF)

Adventitious changes in long-range gene expression caused by polymorphic structural variation and promoter competition

Proceedings of the National Academy of Sciences - PNAS, 2009-12, Vol.106 (51), p.21771-21776

2009

Volltextzugriff (PDF)

Ten Years of Routine α- and β-Globin Gene Sequencing in UK Hemoglobinopathy Referrals Reveals 60 Novel Mutations

Hemoglobin, 2016-03, Vol.40 (2), p.75-84

2016

Volltextzugriff (PDF)

Characterization of Hb Lepore Variants in the UK Population

Hemoglobin, 2015-01, Vol.39 (1), p.58-61

2015

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Prenatal Diagnosis of Hemoglobinopathies by Pyrosequencing: A More Sensitive and Rapid Approach to Fetal Genotyping

Hemoglobin, 2012-04, Vol.36 (2), p.144-150

2012

Volltextzugriff (PDF)

A method for noninvasive prenatal diagnosis of monogenic autosomal recessive disorders

Blood, 2019-10, Vol.134 (14), p.1190-1193

2019

Volltextzugriff (PDF)

EMQN Best Practice Guidelines for molecular and haematology methods for carrier identification and prenatal diagnosis of the haemoglobinopathies

European journal of human genetics : EJHG, 2015-04, Vol.23 (4), p.426-437

2015

Volltextzugriff (PDF)

Signatures of TOP1 transcription-associated mutagenesis in cancer and germline

Nature (London), 2022-02, Vol.602 (7898), p.623-631

2022

Volltextzugriff (PDF)

Multiplex Ligation-Dependent Probe Amplification Identification of 17 Different β-Globin Gene Deletions (Including Four Novel Mutations) in the Uk Population

Hemoglobin, 2009-12, Vol.33 (6), p.406-416

2009

Volltextzugriff (PDF)

A novel 33-Gene targeted resequencing panel provides accurate, clinical-grade diagnosis and improves patient management for rare inherited anaemias

British journal of haematology, 2016-10, Vol.175 (2), p.318-330

2016

Volltextzugriff (PDF)

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The 100 000 Genomes Project: bringing whole genome sequencing to the NHS

Monitoring chronic lymphocytic leukemia progression by whole genome sequencing reveals heterogeneous clonal evolution patterns

Clinical whole-genome sequencing from routine formalin-fixed, paraffin-embedded specimens: pilot study for the 100,000 Genomes Project

A novel 33‐Gene targeted resequencing panel provides accurate, clinical‐grade diagnosis and improves patient management for rare inherited anaemias

Clinical applicability and cost of a 46-gene panel for genomic analysis of solid tumours: Retrospective validation and prospective audit in the UK National Health Service

Ten novel mutations in the erythroid transcription factor KLF1 gene associated with increased fetal hemoglobin levels in adults

Eleven Cases of Hb J-Paris-I [ HBA2 : c.38C>A (or HBA1 )]: A Stable α Chain Variant Elutes in the P3 Window on High-Performance Liquid Chromatography

Eight Cases of Hb Winnipeg [ HBA2 : c.226G>T (or HBA1 )]: A Detailed Study

Fifteen Cases of Hb J-Meerut: The Rare Association with Hb E and/or HBA1 : c.-24C>G (or HBA2 ) Variants

Targeted Next-Generation Sequencing of Plasma DNA from Cancer Patients: Factors Influencing Consistency with Tumour DNA and Prospective Investigation of Its Utility for Diagnosis

Twelve Cases of Hb Manitoba [α102(G9)Ser→Arg]: the Fluctuation in the Variant Expression

Hb Calgary (HBB: c.194G>T): A Highly Unstable Hemoglobin Variant with a β-Thalassemia Major Phenotype

Adventitious changes in long-range gene expression caused by polymorphic structural variation and promoter competition

Ten Years of Routine α- and β-Globin Gene Sequencing in UK Hemoglobinopathy Referrals Reveals 60 Novel Mutations

Characterization of Hb Lepore Variants in the UK Population

Prenatal Diagnosis of Hemoglobinopathies by Pyrosequencing: A More Sensitive and Rapid Approach to Fetal Genotyping

A method for noninvasive prenatal diagnosis of monogenic autosomal recessive disorders

Insights for precision oncology from the integration of genomic and clinical data of 13,880 tumors from the 100,000 Genomes Cancer Programme

EMQN Best Practice Guidelines for molecular and haematology methods for carrier identification and prenatal diagnosis of the haemoglobinopathies

Signatures of TOP1 transcription-associated mutagenesis in cancer and germline

Use of whole genome sequencing to determine genetic basis of suspected mitochondrial disorders: cohort study

Multiplex Ligation-Dependent Probe Amplification Identification of 17 Different β-Globin Gene Deletions (Including Four Novel Mutations) in the Uk Population

Integration of next-generation sequencing in clinical diagnostic molecular pathology laboratories for analysis of solid tumours; an expert opinion on behalf of IQN Path ASBL

A novel 33-Gene targeted resequencing panel provides accurate, clinical-grade diagnosis and improves patient management for rare inherited anaemias

SAMHD1 is mutated recurrently in chronic lymphocytic leukemia and is involved in response to DNA damage

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