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Exome sequencing identified rare recurrent copy number variants and hereditary breast cancer susceptibility

PLoS genetics, 2023-08, Vol.19 (8), p.e1010889-e1010889

2023

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Next Generation Exome Sequencing of Pediatric Asthma Identifies Rare and Novel Variants in Candidate Genes

Disease markers, 2021, Vol.2021, p.8884229-10

2021

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Generation of a patient-derived induced pluripotent cell line (SCTCi016-A) carrying a homozygous variant in RPE65

Stem cell research, 2022-04, Vol.60, p.102689-102689, Article 102689

2022

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Identification of a functionally significant tri-allelic genotype in the Tyrosinase gene (TYR) causing hypomorphic oculocutaneous albinism (OCA1B)

Scientific reports, 2017-06, Vol.7 (1), p.4415-9, Article 4415

2017

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A small gene sequencing panel realises a high diagnostic rate in patients with congenital nystagmus following basic phenotyping

Scientific reports, 2019-09, Vol.9 (1), p.13229-8, Article 13229

2019

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Comprehensive de novo mutation discovery with HiFi long-read sequencing

Genome medicine, 2023-05, Vol.15 (1), p.34-34, Article 34

2023

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Exploring the missing heritability in subjects with hearing loss, enlarged vestibular aqueducts, and a single or no pathogenic SLC26A4 variant

Human genetics, 2022-04, Vol.141 (3-4), p.465-484

2022

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Comprehensive sequencing of the myocilin gene in a selected cohort of severe primary open-angle glaucoma patients

Scientific reports, 2019-02, Vol.9 (1), p.3100, Article 3100

2019

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Mobile element insertions in rare diseases: a comparative benchmark and reanalysis of 60,000 exome samples

European journal of human genetics : EJHG, 2024-02, Vol.32 (2), p.200-208

2024

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The Predicted Splicing Variant c.11+5G>A in RPE65 Leads to a Reduction in mRNA Expression in a Cell-Specific Manner

Cells (Basel, Switzerland), 2022-11, Vol.11 (22), p.3640

2022

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Long-read technologies identify a hidden inverted duplication in a family with choroideremia

HGG advances, 2021-10, Vol.2 (4), p.100046-100046, Article 100046

2021

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Detection of the ACAGG Repeat Motif in RFC1 in Two Dutch Ataxia Families

Movement disorders, 2023-08, Vol.38 (8), p.1555-1556

2023

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Optical genome mapping identifies a germline retrotransposon insertion in SMARCB1 in two siblings with atypical teratoid rhabdoid tumors

The Journal of pathology, 2021-10, Vol.255 (2), p.202-211

2021

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The Identification of Causal Variants in Nystagmus and Primary Open-Angle Glaucoma Patients Through Analyses of Next-Generation Sequencing Data

O'Gorman, Luke

2019

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ProQuest

Correction to: Exploring the missing heritability in subjects with hearing loss, enlarged vestibular aqueducts, and a single or no pathogenic SLC26A4 variant

Human genetics, 2022-04, Vol.141 (3-4), p.991-991

2022

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The Predicted Splicing Variant c.11+5GA in IRPE65/I Leads to a Reduction in mRNA Expression in a Cell-Specific Manner

Cells (Basel, Switzerland), 2022-11, Vol.11 (22)

2022

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Mutations in TYR and OCA2 associated with oculocutaneous albinism in Pakistani families

Meta Gene, 2018-09, Vol.17, p.48-55

2018

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Deep-Learning-Based Defect Detection for Light Aircraft With Unmanned Aircraft Systems

IEEE access, 2024, Vol.12, p.83876-83886

2024

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Cutting edge: mechanisms of IL-2-dependent maintenance of functional regulatory T cells

The Journal of immunology (1950), 2010-12, Vol.185 (11), p.6426-6430

2010

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Targeting Proteotoxic Stress in Cancer: A Review of the Role that Protein Quality Control Pathways Play in Oncogenesis

Cancers, 2019-01, Vol.11 (1), p.66

2019

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Vascular Endothelial Growth Factor as an Immediate-Early Activator of Ultraviolet-Induced Skin Injury

Mayo Clinic proceedings, 2022-01, Vol.97 (1), p.154-164

2022

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Design and Development of a low-cost Inspection UAS prototype for Visual Inspection of Aircraft

Transportation research procedia (Online), 2021, Vol.59, p.85-94

2021

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Abstract 457: Protein and chemotherapy profiling of extracellular vesicles harvested from therapeutic-induced senescent triple-negative breast cancer cells

Cancer research (Chicago, Ill.), 2018-07, Vol.78 (13_Supplement), p.457-457

2018

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Travelling for Umrah: destination attributes, destination image, and post-travel intentions

The Service industries journal, 2017-06, Vol.37 (7-8), p.448-465

2017

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Exome sequencing identified rare recurrent copy number variants and hereditary breast cancer susceptibility

Next Generation Exome Sequencing of Pediatric Asthma Identifies Rare and Novel Variants in Candidate Genes

Generation of a patient-derived induced pluripotent cell line (SCTCi016-A) carrying a homozygous variant in RPE65

Identification of a functionally significant tri-allelic genotype in the Tyrosinase gene (TYR) causing hypomorphic oculocutaneous albinism (OCA1B)

A small gene sequencing panel realises a high diagnostic rate in patients with congenital nystagmus following basic phenotyping

Comprehensive de novo mutation discovery with HiFi long-read sequencing

Exploring the missing heritability in subjects with hearing loss, enlarged vestibular aqueducts, and a single or no pathogenic SLC26A4 variant

Comprehensive sequencing of the myocilin gene in a selected cohort of severe primary open-angle glaucoma patients

Correction: Mobile element insertions in rare diseases: a comparative benchmark and reanalysis of 60,000 exome samples

Mobile element insertions in rare diseases: a comparative benchmark and reanalysis of 60,000 exome samples

The Predicted Splicing Variant c.11+5G>A in RPE65 Leads to a Reduction in mRNA Expression in a Cell-Specific Manner

Long-read technologies identify a hidden inverted duplication in a family with choroideremia

Detection of the ACAGG Repeat Motif in RFC1 in Two Dutch Ataxia Families

Optical genome mapping identifies a germline retrotransposon insertion in SMARCB1 in two siblings with atypical teratoid rhabdoid tumors

The Identification of Causal Variants in Nystagmus and Primary Open-Angle Glaucoma Patients Through Analyses of Next-Generation Sequencing Data

Correction to: Exploring the missing heritability in subjects with hearing loss, enlarged vestibular aqueducts, and a single or no pathogenic SLC26A4 variant

The Predicted Splicing Variant c.11+5GA in IRPE65/I Leads to a Reduction in mRNA Expression in a Cell-Specific Manner

Mutations in TYR and OCA2 associated with oculocutaneous albinism in Pakistani families

Deep-Learning-Based Defect Detection for Light Aircraft With Unmanned Aircraft Systems

Cutting edge: mechanisms of IL-2-dependent maintenance of functional regulatory T cells

Targeting Proteotoxic Stress in Cancer: A Review of the Role that Protein Quality Control Pathways Play in Oncogenesis

Vascular Endothelial Growth Factor as an Immediate-Early Activator of Ultraviolet-Induced Skin Injury

Design and Development of a low-cost Inspection UAS prototype for Visual Inspection of Aircraft

Abstract 457: Protein and chemotherapy profiling of extracellular vesicles harvested from therapeutic-induced senescent triple-negative breast cancer cells

Travelling for Umrah: destination attributes, destination image, and post-travel intentions

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