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Multisite verification of the accuracy of a multi-gene next generation sequencing panel for detection of mutations and copy number alterations in solid tumours

PloS one, 2021-10, Vol.16 (10), p.e0258188-e0258188

2021

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Clinical Next-Generation Sequencing Pipeline Outperforms a Combined Approach Using Sanger Sequencing and Multiplex Ligation-Dependent Probe Amplification in Targeted Gene Panel Analysis

The Journal of molecular diagnostics : JMD, 2016-09, Vol.18 (5), p.657-667

2016

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Hb S/β+-thalassemia due to Hb sickle and a novel deletion of DNase I hypersensitive sites HS3 and HS4 of the β locus control region

Haematologica (Roma), 2015-05, Vol.100 (5), p.e166

2015

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Microcytosis in patients with haemoglobin C trait: is α‐thalassaemia trait to blame?

British journal of haematology, 2020-12, Vol.191 (5), p.e129-e131

2020

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Splice Acceptor Mutation [ HBB :c.93-2A > T] in a Patient with Hb S/β 0 -Thalassemia

Hemoglobin, 2024-03, Vol.48 (2), p.116-117

2024

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Splice Acceptor Mutation [HBB:c.93-2A > T] in a Patient with Hb S/β0-Thalassemia

Hemoglobin, 2024-03, Vol.48 (2), p.116-117

2024

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Newborn Screening for β-Thalassemia Identifies a Complex Genotype Involving a Novel β-Globin Gene Mutation ( HBB :c.336dup)

Hemoglobin, 2024-03, Vol.48 (2), p.113-115

2024

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β0-Thalassemia Caused by a Novel Nonsense Mutation [HBB:c.199A > T]

Hemoglobin, 2024-01, Vol.48 (1), p.69-70

2024

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β 0 -Thalassemia Caused by a Novel Nonsense Mutation [ HBB: c.199A > T]

Hemoglobin, 2024-01, Vol.48 (1), p.69-70

2024

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Characterization of Two Novel Deletions Involving the 5′ Region of the β-Globin Gene

Hemoglobin, 2017-11, Vol.41 (4-6), p.239-242

2017

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Novel High Oxygen Affinity Hemoglobin Variant in a Patient with Polycythemia: Hb Kennisis [β85(F1)Phe→Leu (TTT>TTG); HBB: c.258T>G]

Hemoglobin, 2020-01, Vol.44 (1), p.10-12

2020

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ATM whole gene deletion in an Italian family with hereditary pancreatic cancer: Challenges to cancer risk prediction associated with an 11q22.3 microdeletion

Cancer genetics, 2020-01, Vol.240, p.1-4

2020

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Characterisation of the British α0‐thalassaemia deletion: evidence of a founder effect in Newfoundland, Canada

British journal of haematology, 2009-10, Vol.147 (1), p.150-152

2009

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Compound Heterozygosity for Hb S and a Novel Deletion of Dnase I Hypersensitivity Sites HS3 and HS4 of β-Globin Locus Control Region Results in Hb S/β+-Thalassemia Phenotype

Blood, 2014-12, Vol.124 (21), p.2692-2692

2014

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Technical note: improved DNA extraction from ancient bones using silica-based spin columns

American journal of physical anthropology, 1998-04, Vol.105 (4), p.539-543

1998

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Multiplex Allele-Specific PCR for Simultaneous Detection of H63D and C282Y HFE Mutations in Hereditary Hemochromatosis

The journal of applied laboratory medicine, 2018-07, Vol.3 (1), p.10-17

2018

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α0-Thalassemia Due to a 90.7 kb Deletion (- -NFLD)

Hemoglobin, 2017-05, Vol.41 (3), p.218-219

2017

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α 0 -Thalassemia Due to a 90.7 kb Deletion (- - NFLD )

Hemoglobin, 2017-05, Vol.41 (3), p.218-219

2017

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8 - Comparison of Three Commercially Available Platforms for Somatic Mutation Profiling in Solid Tumors

Cancer genetics, 2016-06, Vol.209 (6), p.287-287

2016

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Novel Mutation of the Translation Initiation Codon of the α1-Globin Gene (ATG>AAG or HBA1:c.2T>A)

Hemoglobin, 2016-09, Vol.40 (5), p.369-370

2016

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Characterisation of the British alpha 0-thalassaemia deletion: evidence of a founder effect in Newfoundland, Canada

British journal of haematology, 2009-10, Vol.147 (1), p.150-152

2009

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Comparison of Three Commercially Available Platforms for Somatic Mutation Profiling in Solid Tumors

Cancer genetics, 2016-06, Vol.209 (6), p.287-287

2016

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Novel 27.9 kb α 0 ‐thalassemia deletion in a Filipino woman

American journal of hematology, 2009-03, Vol.84 (3), p.197-198

2009

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Novel 27.9 kb α0‐thalassemia deletion in a Filipino woman

American journal of hematology, 2009-03, Vol.84 (3), p.197-198

2009

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Digging deeper into the limits of ancient DNA research on syphilis

Journal of archaeological science, 2007-12, Vol.34 (12), p.2091-2100

2007

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Multisite verification of the accuracy of a multi-gene next generation sequencing panel for detection of mutations and copy number alterations in solid tumours

Clinical Next-Generation Sequencing Pipeline Outperforms a Combined Approach Using Sanger Sequencing and Multiplex Ligation-Dependent Probe Amplification in Targeted Gene Panel Analysis

Hb S/β+-thalassemia due to Hb sickle and a novel deletion of DNase I hypersensitive sites HS3 and HS4 of the β locus control region

Microcytosis in patients with haemoglobin C trait: is α‐thalassaemia trait to blame?

Splice Acceptor Mutation [ HBB :c.93-2A > T] in a Patient with Hb S/β 0 -Thalassemia

Splice Acceptor Mutation [HBB:c.93-2A > T] in a Patient with Hb S/β0-Thalassemia

Newborn Screening for β-Thalassemia Identifies a Complex Genotype Involving a Novel β-Globin Gene Mutation ( HBB :c.336dup)

β0-Thalassemia Caused by a Novel Nonsense Mutation [HBB:c.199A > T]

β 0 -Thalassemia Caused by a Novel Nonsense Mutation [ HBB: c.199A > T]

Characterization of Two Novel Deletions Involving the 5′ Region of the β-Globin Gene

Novel High Oxygen Affinity Hemoglobin Variant in a Patient with Polycythemia: Hb Kennisis [β85(F1)Phe→Leu (TTT>TTG); HBB: c.258T>G]

ATM whole gene deletion in an Italian family with hereditary pancreatic cancer: Challenges to cancer risk prediction associated with an 11q22.3 microdeletion

Characterisation of the British α0‐thalassaemia deletion: evidence of a founder effect in Newfoundland, Canada

Compound Heterozygosity for Hb S and a Novel Deletion of Dnase I Hypersensitivity Sites HS3 and HS4 of β-Globin Locus Control Region Results in Hb S/β+-Thalassemia Phenotype

Technical note: improved DNA extraction from ancient bones using silica-based spin columns

Multiplex Allele-Specific PCR for Simultaneous Detection of H63D and C282Y HFE Mutations in Hereditary Hemochromatosis

α0-Thalassemia Due to a 90.7 kb Deletion (- -NFLD)

α 0 -Thalassemia Due to a 90.7 kb Deletion (- - NFLD )

8 - Comparison of Three Commercially Available Platforms for Somatic Mutation Profiling in Solid Tumors

Novel Mutation of the Translation Initiation Codon of the α1-Globin Gene (ATG>AAG or HBA1:c.2T>A)

Characterisation of the British alpha 0-thalassaemia deletion: evidence of a founder effect in Newfoundland, Canada

Comparison of Three Commercially Available Platforms for Somatic Mutation Profiling in Solid Tumors

Novel 27.9 kb α 0 ‐thalassemia deletion in a Filipino woman

Novel 27.9 kb α0‐thalassemia deletion in a Filipino woman

Digging deeper into the limits of ancient DNA research on syphilis

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