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DnaJ Heat Shock Protein Family B Member 9 Is a Novel Biomarker for Fibrillary GN

Journal of the American Society of Nephrology, 2018-01, Vol.29 (1), p.51-56

2018

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A common trinucleotide repeat expansion within the transcription factor 4 (TCF4, E2-2) gene predicts Fuchs corneal dystrophy

PloS one, 2012-11, Vol.7 (11), p.e49083

2012

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Amyloid Typing by Mass Spectrometry in Clinical Practice: a Comprehensive Review of 16,175 Samples

Mayo Clinic proceedings, 2020-09, Vol.95 (9), p.1852-1864

2020

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Isocitrate dehydrogenase 1 and 2 mutations in cholangiocarcinoma

Human pathology, 2012-10, Vol.43 (10), p.1552-1558

2012

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Cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations and risk for pancreatic adenocarcinoma

Cancer, 2010-01, Vol.116 (1), p.203-209

2010

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Novel Type of Renal Amyloidosis Derived from Apolipoprotein-CII

Journal of the American Society of Nephrology, 2017-02, Vol.28 (2), p.439-445

2017

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Molecular profiling of cholangiocarcinoma shows potential for targeted therapy treatment decisions

Human pathology, 2013-07, Vol.44 (7), p.1216-1222

2013

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Targeting the hypoxia pathway to treat pancreatic cancer

Drug design, development and therapy, 2015-01, Vol.9, p.2029-2031

2015

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Trinucleotide Repeat Expansion in the Transcription Factor 4 (TCF4) Gene Leads to Widespread mRNA Splicing Changes in Fuchs' Endothelial Corneal Dystrophy

Investigative ophthalmology & visual science, 2017-01, Vol.58 (1), p.343-352

2017

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Trinucleotide Repeat Expansion in the TCF4 Gene in Fuchs' Endothelial Corneal Dystrophy in Japanese

Investigative ophthalmology & visual science, 2015-07, Vol.56 (8), p.4865-4869

2015

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The Power of Proficiency Testing: Unraveling Single-Nucleotide Polymorphism Interference, With Potential Impact on Clinical Testing of Spinocerebellar Ataxia Type 3

Archives of pathology & laboratory medicine (1976), 2019-03, Vol.143 (3), p.349-355

2019

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Amplification-free long-read sequencing of TCF4 expanded trinucleotide repeats in Fuchs Endothelial Corneal Dystrophy

PloS one, 2019-07, Vol.14 (7), p.e0219446

2019

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Renal Amyloidosis Associated With a Novel Sequence Variant of Gelsolin

American journal of kidney diseases, 2013-01, Vol.61 (1), p.161-166

2013

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Mitochondrial Aging and Physical Decline: Insights From Three Generations of Women

The journals of gerontology. Series A, Biological sciences and medical sciences, 2015-11, Vol.70 (11), p.1409-1417

2015

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CDKN2A Germline Rare Coding Variants and Risk of Pancreatic Cancer in Minority Populations

Cancer epidemiology, biomarkers & prevention, 2018-11, Vol.27 (11), p.1364-1370

2018

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Identification of aggressive Gardner syndrome phenotype associated with a de novo APC variant, c.4666dup

Cold Spring Harbor molecular case studies, 2019-04, Vol.5 (2), p.a003640

2019

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Hereditary Lysozyme Amyloidosis Variant p.Leu102Ser Associates with Unique Phenotype

Journal of the American Society of Nephrology, 2017-02, Vol.28 (2), p.431-438

2017

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Clinical Proteome Informatics Workbench Detects Pathogenic Mutations in Hereditary Amyloidoses

Journal of proteome research, 2014-05, Vol.13 (5), p.2352-2358

2014

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Phage display technology: clinical applications and recent innovations

Clinical Biochemistry, 2002-09, Vol.35 (6), p.425-445

2002

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Homozygosity for the V122I Mutation in Transthyretin Is Associated with Earlier Onset of Cardiac Amyloidosis in the African American Population in the Seventh Decade of Life

The Journal of molecular diagnostics : JMD, 2014, Vol.16 (1), p.68-74

2014

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SERPINA1 Full-Gene Sequencing Identifies Rare Mutations Not Detected in Targeted Mutation Analysis

The Journal of molecular diagnostics : JMD, 2015-11, Vol.17 (6), p.689-694

2015

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Applying Standard Clinical Chemistry Assay Validation to Droplet Digital PCR Quantitative Liquid Biopsy Testing

Clinical chemistry (Baltimore, Md.), 2018-12, Vol.64 (12), p.1732-1742

2018

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DNA Mutation Detection in a Polymer Microfluidic Network Using Temperature Gradient Gel Electrophoresis

Analytical chemistry (Washington), 2004-02, Vol.76 (4), p.874-881

2004

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Compound heterozygosity with a novel S222N GALT mutation leads to atypical galactosemia with loss of GALT activity in erythrocytes but little evidence of clinical disease

Molecular genetics and metabolism reports, 2015-03, Vol.2 (C), p.61-64

2015

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DnaJ Heat Shock Protein Family B Member 9 Is a Novel Biomarker for Fibrillary GN

A common trinucleotide repeat expansion within the transcription factor 4 (TCF4, E2-2) gene predicts Fuchs corneal dystrophy

Amyloid Typing by Mass Spectrometry in Clinical Practice: a Comprehensive Review of 16,175 Samples

Isocitrate dehydrogenase 1 and 2 mutations in cholangiocarcinoma

Cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations and risk for pancreatic adenocarcinoma

Novel Type of Renal Amyloidosis Derived from Apolipoprotein-CII

Molecular profiling of cholangiocarcinoma shows potential for targeted therapy treatment decisions

Targeting the hypoxia pathway to treat pancreatic cancer

Trinucleotide Repeat Expansion in the Transcription Factor 4 (TCF4) Gene Leads to Widespread mRNA Splicing Changes in Fuchs' Endothelial Corneal Dystrophy

Trinucleotide Repeat Expansion in the TCF4 Gene in Fuchs' Endothelial Corneal Dystrophy in Japanese

The Power of Proficiency Testing: Unraveling Single-Nucleotide Polymorphism Interference, With Potential Impact on Clinical Testing of Spinocerebellar Ataxia Type 3

Amplification-free long-read sequencing of TCF4 expanded trinucleotide repeats in Fuchs Endothelial Corneal Dystrophy

Renal Amyloidosis Associated With a Novel Sequence Variant of Gelsolin

Mitochondrial Aging and Physical Decline: Insights From Three Generations of Women

CDKN2A Germline Rare Coding Variants and Risk of Pancreatic Cancer in Minority Populations

Whole-Exome Sequencing of 10 Scientists: Evaluation of the Process and Outcomes

Identification of aggressive Gardner syndrome phenotype associated with a de novo APC variant, c.4666dup

Hereditary Lysozyme Amyloidosis Variant p.Leu102Ser Associates with Unique Phenotype

Clinical Proteome Informatics Workbench Detects Pathogenic Mutations in Hereditary Amyloidoses

Phage display technology: clinical applications and recent innovations

Homozygosity for the V122I Mutation in Transthyretin Is Associated with Earlier Onset of Cardiac Amyloidosis in the African American Population in the Seventh Decade of Life

SERPINA1 Full-Gene Sequencing Identifies Rare Mutations Not Detected in Targeted Mutation Analysis

Applying Standard Clinical Chemistry Assay Validation to Droplet Digital PCR Quantitative Liquid Biopsy Testing

DNA Mutation Detection in a Polymer Microfluidic Network Using Temperature Gradient Gel Electrophoresis

Compound heterozygosity with a novel S222N GALT mutation leads to atypical galactosemia with loss of GALT activity in erythrocytes but little evidence of clinical disease

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