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Publications by F. L. Raymond

Functional Analyses of a Novel Splice Variant in the CHD7 Gene, Found by Next Generation Sequencing, Confirm Its Pathogenicity in a Spanish Patient and Diagnose Him With CHARGE Syndrome

Frontiers in Genetics

Genetics

Molecular Medicine

2018

English

Hypophosphatasia Associated With Increased Nuchal Translucency: A Report of Two Affected Pregnancies

Ultrasound in Obstetrics and Gynecology

Nuclear Medicine

Radiology

Ultrasound Technology

Gynecology

Reproductive Medicine

English

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SRBD1-ALK, a Novel ALK Fusion Gene Identified in an Adenocarcinoma Patient by Next-Generation Sequencing

Journal of Thoracic Oncology

English

Rapid Exome Sequencing and Adjunct Rna Studies Confirm Pathogenicity of a Novel Homozygous Asns Splicing Variant in a Critically Ill Neonate

English

Variant Discovery in Patients With Mendelian Vascular Anomalies by Next-Generation Sequencing and Their Use in Patient Clinical Management

Journal of Vascular Surgery

Surgery

Cardiovascular Medicine

Cardiology

2018

English

CHARGE Syndrome Associated With De Novo (I1460Rfs*15) Frameshift Mutation of CHD7 Gene in a Patient With Arteria Lusoria and Horseshoe Kidney

Experimental and Therapeutic Medicine

English

Next Generation Sequencing in Synovial Sarcoma Reveals Novel Gene Mutations

Oncotarget

Oncology

2015

English

Effective Use of Next Generation Sequencing for Genetic Diag - Nosis of a Patient With a Mosaic Tsc2 Variant

TURKISH MEDICAL STUDENT JOURNAL

2018

English

Function of Apollo (SNM1B) at Telomere Highlighted by a Splice Variant Identified in a Patient With Hoyeraal-Hreidarsson Syndrome

Proceedings of the National Academy of Sciences of the United States of America

Multidisciplinary

2010

English

A Novel Splice Site Mutation in WAS Gene in Patient With Wiskott-Aldrich Syndrome and Chronic Colitis: A Case Report

BMC Medical Genetics

Genetics

2018

English

Reproducibility of Variant Calls in Replicate Next Generation Sequencing Experiments

PLoS ONE

Multidisciplinary

2015

English

Amanote Research

Discover open access scientific publications

Search, annotate, share and cite publications

Publications by F. L. Raymond

Functional Analyses of a Novel Splice Variant in the CHD7 Gene, Found by Next Generation Sequencing, Confirm Its Pathogenicity in a Spanish Patient and Diagnose Him With CHARGE Syndrome

Hypophosphatasia Associated With Increased Nuchal Translucency: A Report of Two Affected Pregnancies

Related publications

SRBD1-ALK, a Novel ALK Fusion Gene Identified in an Adenocarcinoma Patient by Next-Generation Sequencing

Rapid Exome Sequencing and Adjunct Rna Studies Confirm Pathogenicity of a Novel Homozygous Asns Splicing Variant in a Critically Ill Neonate

Variant Discovery in Patients With Mendelian Vascular Anomalies by Next-Generation Sequencing and Their Use in Patient Clinical Management

CHARGE Syndrome Associated With De Novo (I1460Rfs*15) Frameshift Mutation of CHD7 Gene in a Patient With Arteria Lusoria and Horseshoe Kidney

Next Generation Sequencing in Synovial Sarcoma Reveals Novel Gene Mutations

Effective Use of Next Generation Sequencing for Genetic Diag - Nosis of a Patient With a Mosaic Tsc2 Variant

Function of Apollo (SNM1B) at Telomere Highlighted by a Splice Variant Identified in a Patient With Hoyeraal-Hreidarsson Syndrome

A Novel Splice Site Mutation in WAS Gene in Patient With Wiskott-Aldrich Syndrome and Chronic Colitis: A Case Report

Reproducibility of Variant Calls in Replicate Next Generation Sequencing Experiments