Discover open access scientific publications

Search, annotate, share and cite publications

Publications by H. Garnsey

Validation of Simultaneous Diagnosis of Single Gene Disorder (SGD) and Next Generation Sequencing (NGS) - Based Comprehensive Chromosomal Aneuploidy Screening (CCS) From a Single Trophectoderm (TE) Biopsy

Fertility and Sterility
GynecologyReproductive MedicineObstetrics
2018English

Related publications

Discovery of Single-Gene Inborn Errors of Immunity by Next Generation Sequencing

Current Opinion in Immunology
AllergyImmunology
2014English

Experience With a Targeted Next Generation Sequencing (TNGS) Platform for Comprehensive Chromosome Screening (CCS) on Over 16,000 Embryo Biopsies

Fertility and Sterility
GynecologyReproductive MedicineObstetrics
2017English

Chromosomal Scan of Single Sperm Cells by Combining Fluorescence-Activated Cell Sorting and Next-Generation Sequencing

Journal of Assisted Reproduction and Genetics
GeneticsGynecologyReproductive MedicineObstetricsMedicineDevelopmental Biology
2018English

Incidental Diagnosis of a Parental Balanced Reciprocal Rearrangement in Couples Undergoing Routine Aneuploidy Screening by Targeted Next Generation Sequencing (TNGS)

Fertility and Sterility
GynecologyReproductive MedicineObstetrics
2017English

Targeted Capture Enrichment Followed by NGS: Development and Validation of a Single Comprehensive NIPT for Chromosomal Aneuploidies, Microdeletion Syndromes and Monogenic Diseases

Molecular Cytogenetics
BiochemistryMolecular MedicineGeneticsMolecular Biology
2019English

Comprehensive Validation of Cytology Specimens for Next-Generation Sequencing and Clinical Practice Experience

Journal of Molecular Diagnostics
Forensic MedicinePathologyMolecular Medicine
2018English

Comprehensive Genome Profiling of Single Sperm Cells by Multiple Annealing and Looping-Based Amplification Cycles and Next-Generation Sequencing From Carriers of Robertsonian Translocation

Annals of Human Genetics
Genetics
2017English

Guidelines for Validation of Next-Generation Sequencing–Based Oncology Panels

Journal of Molecular Diagnostics
Forensic MedicinePathologyMolecular Medicine
2017English

Simultaneous Identification of Clinically Relevant Single Nucleotide Variants, Copy Number Alterations and Gene Fusions in Solid Tumors by Targeted Next-Generation Sequencing

Oncotarget
Oncology
2018English

Amanote Research

Note-taking for researchers

Follow Amanote

© 2024 Amaplex Software S.P.R.L. All rights reserved.

Privacy PolicyRefund Policy