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Aggregated Genomic Data as Cohort-Specific Allelic Frequencies can Boost Variants and Genes Prioritization in Non-Solved Cases of Inherited Retinal Dystrophies

International journal of molecular sciences, 2022-08, Vol.23 (15), p.8431

2022

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Analysis of 62 hybrid assembled human Y chromosomes exposes rapid structural changes and high rates of gene conversion

PLoS genetics, 2017-08, Vol.13 (8), p.e1006834-e1006834

2017

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The Ancestral Carnivore Karyotype As Substantiated by Comparative Chromosome Painting of Three Pinnipeds, the Walrus, the Steller Sea Lion and the Baikal Seal (Pinnipedia, Carnivora)

PloS one, 2016-01, Vol.11 (1), p.e0147647-e0147647

2016

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The Bactericidal Activity of a Novel IAneurinibacillus aneurinilyticus/I Isolate Effectively Controls Foodborne Pathogens ICampylobacter jejuni/I and IListeria monocytogenes/I

Applied sciences, 2023-09, Vol.13 (18)

2023

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Bioinformatics and Next Generation Sequencing: Applications of Arthropod Genomes

Zhang, Zaichao

2017

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ProQuest

Case Review: Whole-Exome Sequencing Analyses Identify Carriers of a Known Likely Pathogenic Intronic BRCA1 Variant in Ovarian Cancer Cases Clinically Negative for Pathogenic BRCA1 and BRCA2 Variants

Genes, 2022-04, Vol.13 (4), p.697

2022

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Characterization of sex determination and sex differentiation genes in Latimeria

PloS one, 2013-04, Vol.8 (4), p.e56006-e56006

2013

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Characterization of the avian Trojan gene family reveals contrasting evolutionary constraints

PloS one, 2015-03, Vol.10 (3), p.e0121672-e0121672

2015

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Characterization of Two Transposable Elements and an Ultra-Conserved Element Isolated in the Genome of IZootoca vivipara/I

Life (Basel, Switzerland), 2023-02, Vol.13 (3)

2023

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Co-Occurrence of Germline Genomic Variants and Copy Number Variations in Hereditary Breast and Colorectal Cancer Patients

Genes, 2023-08, Vol.14 (8), p.1580

2023

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Comparative Analysis of Mammal Genomes Unveils Key Genomic Variability for Human Life Span

Molecular biology and evolution, 2021-11, Vol.38 (11), p.4948-4961

2021

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Comparative Genomics Reveals Accelerated Evolution in Conserved Pathways during the Diversification of Anole Lizards

Genome biology and evolution, 2018-02, Vol.10 (2), p.489-506

2018

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A consolidated working classification of gastric cancer for histopathologists (Review)

Biomedical reports, 2023-09, Vol.19 (3), p.1-58, Article 58

2023

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Dementia-related genetic variants in an Italian population of early-onset Alzheimer’s disease

Frontiers in aging neuroscience, 2022-09, Vol.14, p.969817-969817

2022

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The Desmin ( DES ) Mutation p.A337P Is Associated with Left-Ventricular Non-Compaction Cardiomyopathy

Genes, 2021-01, Vol.12 (1), p.121

2021

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Dual Molecular Diagnoses of Recessive Disorders in a Child from Consanguineous Parents: Case Report and Literature Review

Genes, 2022-12, Vol.13 (12), p.2377

2022

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Dwarfism and Altered Craniofacial Development in Rabbits Is Caused by a 12.1 kb Deletion at the HMGA2 Locus

Genetics (Austin), 2017-02, Vol.205 (2), p.955-965

2017

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Elucidating the Role of OXPHOS Variants in Asthenozoospermia: Insights from Whole Genome Sequencing and an In Silico Analysis

International journal of molecular sciences, 2024-04, Vol.25 (7), p.4121

2024

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An evolutionary perspective on complex neuropsychiatric disease

Neuron (Cambridge, Mass.), 2024-01, Vol.112 (1), p.7-24

2024

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A Fair Approach to Genomics

Koehorst, Jasper Jan

2019

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ProQuest

Genetics and Genomics of Pediatric Pulmonary Arterial Hypertension

Genes, 2020-10, Vol.11 (10), p.1213

2020

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Genome-wide association study of multisite chronic pain in UK Biobank

PLoS genetics, 2019-06, Vol.15 (6), p.e1008164-e1008164

2019

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Aggregated Genomic Data as Cohort-Specific Allelic Frequencies can Boost Variants and Genes Prioritization in Non-Solved Cases of Inherited Retinal Dystrophies

Analysis of 62 hybrid assembled human Y chromosomes exposes rapid structural changes and high rates of gene conversion

The Ancestral Carnivore Karyotype As Substantiated by Comparative Chromosome Painting of Three Pinnipeds, the Walrus, the Steller Sea Lion and the Baikal Seal (Pinnipedia, Carnivora)

The Bactericidal Activity of a Novel IAneurinibacillus aneurinilyticus/I Isolate Effectively Controls Foodborne Pathogens ICampylobacter jejuni/I and IListeria monocytogenes/I

BARD1 Pathogenic Variants are Associated with Triple-Negative Breast Cancer in a Spanish Hereditary Breast and Ovarian Cancer Cohort

Bioinformatics and Next Generation Sequencing: Applications of Arthropod Genomes

Case Review: Whole-Exome Sequencing Analyses Identify Carriers of a Known Likely Pathogenic Intronic BRCA1 Variant in Ovarian Cancer Cases Clinically Negative for Pathogenic BRCA1 and BRCA2 Variants

Characterization of sex determination and sex differentiation genes in Latimeria

Characterization of the avian Trojan gene family reveals contrasting evolutionary constraints

Characterization of Two Transposable Elements and an Ultra-Conserved Element Isolated in the Genome of IZootoca vivipara/I

Co-Occurrence of Germline Genomic Variants and Copy Number Variations in Hereditary Breast and Colorectal Cancer Patients

Comparative Analysis of Mammal Genomes Unveils Key Genomic Variability for Human Life Span

Comparative Genomics Reveals Accelerated Evolution in Conserved Pathways during the Diversification of Anole Lizards

A Comparison of Tools for Copy-Number Variation Detection in Germline Whole Exome and Whole Genome Sequencing Data

A consolidated working classification of gastric cancer for histopathologists (Review)

Dementia-related genetic variants in an Italian population of early-onset Alzheimer’s disease

The Desmin ( DES ) Mutation p.A337P Is Associated with Left-Ventricular Non-Compaction Cardiomyopathy

Dual Molecular Diagnoses of Recessive Disorders in a Child from Consanguineous Parents: Case Report and Literature Review

Dwarfism and Altered Craniofacial Development in Rabbits Is Caused by a 12.1 kb Deletion at the HMGA2 Locus

Elucidating the Role of OXPHOS Variants in Asthenozoospermia: Insights from Whole Genome Sequencing and an In Silico Analysis

An evolutionary perspective on complex neuropsychiatric disease

A Fair Approach to Genomics

Genetics and Genomics of Pediatric Pulmonary Arterial Hypertension

Genome-wide association study of multisite chronic pain in UK Biobank

Genome-Wide DNA Methylation Profiling Solves Uncertainty in Classifying INSD1/I Variants

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