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Profound MEK inhibitor response in a cutaneous melanoma harboring a GOLGA4-RAF1 fusion

The Journal of clinical investigation, 2019-05, Vol.129 (5), p.1940-1945

2019

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Multiplexed transcriptome analysis to detect ALK, ROS1 and RET rearrangements in lung cancer

Scientific reports, 2017-02, Vol.7 (1), p.42259-42259, Article 42259

2017

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Improved next-generation sequencing pre-capture library yields and sequencing parameters using on-bead PCR

BioTechniques, 2020-01, Vol.68 (1), p.48-51

2020

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Breast ductal carcinoma in situ carry mutational driver events representative of invasive breast cancer

Modern pathology, 2017-07, Vol.30 (7), p.952-963

2017

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Development and interlaboratory evaluation of a NIST Reference Material RM 8366 for EGFR and MET gene copy number measurements

Clinical chemistry and laboratory medicine, 2019-07, Vol.57 (8), p.1142-1152

2019

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Homologous Recombination Repair Deficiency: An Overview for Pathologists

Modern pathology, 2023-03, Vol.36 (3), p.100049-100049, Article 100049

2023

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Predicting response to immune checkpoint blockade in NSCLC with tumour-only RNA-seq

British journal of cancer, 2023-04, Vol.128 (6), p.1148-1154

2023

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A MXI1-NUTM1 fusion protein with MYC-like activity suggests a novel oncogenic mechanism in a subset of NUTM1-rearranged tumors

Laboratory investigation, 2021-01, Vol.101 (1), p.26-37

2021

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Novel RET Fusion RET-SEPTIN9 Predicts Response to Selective RET Inhibition With Selpercatinib in Malignant Pheochromocytoma

JCO precision oncology, 2021-11, Vol.5 (5), p.1160-1165

2021

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Breast cancer metastasis to gynaecological organs: a clinico‐pathological and molecular profiling study

The journal of pathology. Clinical research, 2019-01, Vol.5 (1), p.25-39

2019

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SDH-deficient renal cell carcinoma associated with biallelic mutation in succinate dehydrogenase A: comprehensive genetic profiling and its relation to therapy response

NPJ precision oncology, 2018-03, Vol.2 (1), p.9, Article 9

2018

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MEK Inhibitor Therapy in Carcinomas With RAF1 Fusions: Inferior Response in a Patient With Pancreatic Acinar Cell Carcinoma

JCO precision oncology, 2019-12 (3), p.1-2

2019

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Familial hypofibrinogenaemia associated with heterozygous substitution of a conserved arginine residue; Bβ255 Arg→His (Fibrinogen Merivale)

Biochimica et biophysica acta. Proteins and proteomics, 2003-02, Vol.1645 (2), p.146-151

2003

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Simple multiplex PCR for the simultaneous detection of the C282Y and H63D hemochromatosis (HFE) gene mutations

Clinical chemistry (Baltimore, Md.), 1999-03, Vol.45 (3), p.426-428

1999

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Electrospray ionization mass spectrometry identification of fibrinogen Banks Peninsula (γ280Tyr→Cys): a new variant with defective polymerization

British journal of haematology, 1998-04, Vol.101 (1), p.24-31

1998

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A MXI1-NUTM1 fusion protein with MYC-like activity suggests a novel oncogenic mechanism in a subset of NUTM1-rearranged tumors

Laboratory investigation, 2021-01, Vol.101 (1), p.26

2021

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Rapid detection of the fibrinogen Aα16Arg→His mutation

Clinical chemistry (Baltimore, Md.), 1997-11, Vol.43 (11), p.2184-2186

1997

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Albumin Hawkes Bay; a low level variant caused by loss of a sulphydryl group at position 177

Biochimica et biophysica acta. Molecular basis of disease, 1993-08, Vol.1182 (1), p.46-50

1993

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Albumin Banks Peninsula: a new termination variant characterised by electrospray mass spectrometry

Biochimica et biophysica acta, 1999-08, Vol.1433 (1), p.321-326

1999

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Hypofibrinogenemia in an individual with 2 coding (γ82 A→G and Bβ235 P→L) and 2 noncoding mutations

Blood, 2000-03, Vol.95 (5), p.1709-1713

2000

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Molecular Mechanisms of Hypo- and Afibrinogenemia

Annals of the New York Academy of Sciences, 2001-01, Vol.936 (1), p.91-100

2001

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Homozygous truncation of the fibrinogen Aα chain within the coiled coil causes congenital afibrinogenemia

Blood, 2000-07, Vol.96 (2), p.773-775

2000

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Identification and Characterization of Five New Fibrinogen Gene Polymorphisms

Annals of the New York Academy of Sciences, 2001-01, Vol.936 (1), p.536-541

2001

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Homozygous truncation of the fibrinogen Aα chain within the coiled coil causes congenital afibrinogenemia

Blood, 2000-07, Vol.96 (2), p.773-775

2000

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Correction for Stott et al.: simple multiplex PCR for the simultaneous detection of the C282Y and H63D hemochromatosis (HFE) gene mutations

Clinical chemistry (Baltimore, Md.), 2000-02, Vol.46 (2), p.308-309

2000

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Profound MEK inhibitor response in a cutaneous melanoma harboring a GOLGA4-RAF1 fusion

Multiplexed transcriptome analysis to detect ALK, ROS1 and RET rearrangements in lung cancer

Improved next-generation sequencing pre-capture library yields and sequencing parameters using on-bead PCR

Breast ductal carcinoma in situ carry mutational driver events representative of invasive breast cancer

Development and interlaboratory evaluation of a NIST Reference Material RM 8366 for EGFR and MET gene copy number measurements

Homologous Recombination Repair Deficiency: An Overview for Pathologists

Predicting response to immune checkpoint blockade in NSCLC with tumour-only RNA-seq

A MXI1-NUTM1 fusion protein with MYC-like activity suggests a novel oncogenic mechanism in a subset of NUTM1-rearranged tumors

Novel RET Fusion RET-SEPTIN9 Predicts Response to Selective RET Inhibition With Selpercatinib in Malignant Pheochromocytoma

Breast cancer metastasis to gynaecological organs: a clinico‐pathological and molecular profiling study

SDH-deficient renal cell carcinoma associated with biallelic mutation in succinate dehydrogenase A: comprehensive genetic profiling and its relation to therapy response

MEK Inhibitor Therapy in Carcinomas With RAF1 Fusions: Inferior Response in a Patient With Pancreatic Acinar Cell Carcinoma

Familial hypofibrinogenaemia associated with heterozygous substitution of a conserved arginine residue; Bβ255 Arg→His (Fibrinogen Merivale)

Simple multiplex PCR for the simultaneous detection of the C282Y and H63D hemochromatosis (HFE) gene mutations

Electrospray ionization mass spectrometry identification of fibrinogen Banks Peninsula (γ280Tyr→Cys): a new variant with defective polymerization

A MXI1-NUTM1 fusion protein with MYC-like activity suggests a novel oncogenic mechanism in a subset of NUTM1-rearranged tumors

Rapid detection of the fibrinogen Aα16Arg→His mutation

Albumin Hawkes Bay; a low level variant caused by loss of a sulphydryl group at position 177

Albumin Banks Peninsula: a new termination variant characterised by electrospray mass spectrometry

Hypofibrinogenemia in an individual with 2 coding (γ82 A→G and Bβ235 P→L) and 2 noncoding mutations

Molecular Mechanisms of Hypo- and Afibrinogenemia

Homozygous truncation of the fibrinogen Aα chain within the coiled coil causes congenital afibrinogenemia

Identification and Characterization of Five New Fibrinogen Gene Polymorphisms

Homozygous truncation of the fibrinogen Aα chain within the coiled coil causes congenital afibrinogenemia

Correction for Stott et al.: simple multiplex PCR for the simultaneous detection of the C282Y and H63D hemochromatosis (HFE) gene mutations

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