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Sequencing of human genomes with nanopore technology

Nature communications, 2019-04, Vol.10 (1), p.1869-9, Article 1869

2019

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Biparental inheritance of mitochondrial DNA revisited

Nature reviews. Genetics, 2021-08, Vol.22 (8), p.477-478

2021

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Bi-allelic MCM10 variants associated with immune dysfunction and cardiomyopathy cause telomere shortening

Nature communications, 2021-03, Vol.12 (1), p.1626-1626, Article 1626

2021

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Mutations in the HECT domain of NEDD4L lead to AKT-mTOR pathway deregulation and cause periventricular nodular heterotopia

Nature genetics, 2016-11, Vol.48 (11), p.1349-1358

2016

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Short and long-read genome sequencing methodologies for somatic variant detection; genomic analysis of a patient with diffuse large B-cell lymphoma

Scientific reports, 2021-03, Vol.11 (1), p.6408-6408, Article 6408

2021

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Bi-allelic Mutations in NDUFA6 Establish Its Role in Early-Onset Isolated Mitochondrial Complex I Deficiency

American journal of human genetics, 2018-10, Vol.103 (4), p.592-601

2018

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Analysis of exome data for 4293 trios suggests GPI-anchor biogenesis defects are a rare cause of developmental disorders

European journal of human genetics : EJHG, 2017-06, Vol.25 (6), p.669-679

2017

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Mutations in PGAP3 Impair GPI-Anchor Maturation, Causing a Subtype of Hyperphosphatasia with Mental Retardation

American journal of human genetics, 2014-02, Vol.94 (2), p.278-287

2014

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A Palindrome-Like Structure on 16p13.3 Is Associated with the Formation of Complex Structural Variations and SRRM2 Haploinsufficiency

Human mutation, 2023-04, Vol.2023, p.1-9

2023

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Delineation of dominant and recessive forms of LZTR1‐associated Noonan syndrome

Clinical genetics, 2019-06, Vol.95 (6), p.693-703

2019

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Presynaptic congenital myasthenic syndrome due to three novel mutations in SLC5A7 encoding the sodium-dependant high-affinity choline transporter

Neuromuscular disorders : NMD, 2021-01, Vol.31 (1), p.21-28

2021

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Periventricular heterotopia in 6q terminal deletion syndrome: role of the C6orf70 gene

Brain (London, England : 1878), 2013-11, Vol.136 (Pt 11), p.3378-3394

2013

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A relatively common homozygous TRAPPC4 splicing variant is associated with an early-infantile neurodegenerative syndrome

European journal of human genetics : EJHG, 2021-02, Vol.29 (2), p.271-279

2021

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Classical and Non-classical Presentations of Complement Factor I Deficiency: Two Contrasting Cases Diagnosed via Genetic and Genomic Methods

Frontiers in immunology, 2019-06, Vol.10, p.1150

2019

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Implementation of a genomic medicine multi-disciplinary team approach for rare disease in the clinical setting: a prospective exome sequencing case series

Genome medicine, 2019-07, Vol.11 (1), p.46-46, Article 46

2019

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De Novo Mutations in DENR Disrupt Neuronal Development and Link Congenital Neurological Disorders to Faulty mRNA Translation Re-initiation

Cell reports (Cambridge), 2016-06, Vol.15 (10), p.2251-2265

2016

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Pure cerebellar ataxia due to bi-allelic PRDX3 variants including recurring p.Asp202Asn

Annals of clinical and translational neurology, 2023-10, Vol.10 (10), p.1910-1916

2023

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Frequent retrotransposition of endogenous genes in ERCC2-deficient cells derived from a patient with xeroderma pigmentosum

Stem cell research & therapy, 2019-08, Vol.10 (1), p.273-9, Article 273

2019

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Exome sequencing can detect pathogenic mosaic mutations present at low allele frequencies

Journal of human genetics, 2012-01, Vol.57 (1), p.70-72

2012

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The role of rare compound heterozygous events in autism spectrum disorder

Translational psychiatry, 2020-06, Vol.10 (1), p.204-204, Article 204

2020

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Venus: Elucidating the Impact of Amino Acid Variants on Protein Function Beyond Structure Destabilisation

Journal of molecular biology, 2022-06, Vol.434 (11), p.167567, Article 167567

2022

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MichelaNglo: sculpting protein views on web pages without coding

Bioinformatics, 2020-05, Vol.36 (10), p.3268-3270

2020

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Genome sequencing identifies KMT2E‐disrupting cryptic structural variant in a female with O'Donnell‐Luria‐Rodan syndrome

Clinical genetics, 2023-09, Vol.104 (3), p.390-392

2023

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Sequencing of human genomes with nanopore technology

Biparental inheritance of mitochondrial DNA revisited

Bi-allelic MCM10 variants associated with immune dysfunction and cardiomyopathy cause telomere shortening

Mutations in the HECT domain of NEDD4L lead to AKT-mTOR pathway deregulation and cause periventricular nodular heterotopia

Short and long-read genome sequencing methodologies for somatic variant detection; genomic analysis of a patient with diffuse large B-cell lymphoma

Bi-allelic Mutations in NDUFA6 Establish Its Role in Early-Onset Isolated Mitochondrial Complex I Deficiency

Analysis of exome data for 4293 trios suggests GPI-anchor biogenesis defects are a rare cause of developmental disorders

Mutations in PGAP3 Impair GPI-Anchor Maturation, Causing a Subtype of Hyperphosphatasia with Mental Retardation

A Palindrome-Like Structure on 16p13.3 Is Associated with the Formation of Complex Structural Variations and SRRM2 Haploinsufficiency

DNA Methylation Profiling of Uniparental Disomy Subjects Provides a Map of Parental Epigenetic Bias in the Human Genome

Delineation of dominant and recessive forms of LZTR1‐associated Noonan syndrome

Presynaptic congenital myasthenic syndrome due to three novel mutations in SLC5A7 encoding the sodium-dependant high-affinity choline transporter

Periventricular heterotopia in 6q terminal deletion syndrome: role of the C6orf70 gene

A relatively common homozygous TRAPPC4 splicing variant is associated with an early-infantile neurodegenerative syndrome

Classical and Non-classical Presentations of Complement Factor I Deficiency: Two Contrasting Cases Diagnosed via Genetic and Genomic Methods

Implementation of a genomic medicine multi-disciplinary team approach for rare disease in the clinical setting: a prospective exome sequencing case series

De Novo Mutations in DENR Disrupt Neuronal Development and Link Congenital Neurological Disorders to Faulty mRNA Translation Re-initiation

Pure cerebellar ataxia due to bi-allelic PRDX3 variants including recurring p.Asp202Asn

Frequent retrotransposition of endogenous genes in ERCC2-deficient cells derived from a patient with xeroderma pigmentosum

Exome sequencing can detect pathogenic mosaic mutations present at low allele frequencies

The role of rare compound heterozygous events in autism spectrum disorder

Venus: Elucidating the Impact of Amino Acid Variants on Protein Function Beyond Structure Destabilisation

MichelaNglo: sculpting protein views on web pages without coding

Genome sequencing identifies KMT2E‐disrupting cryptic structural variant in a female with O'Donnell‐Luria‐Rodan syndrome

Clinical whole-genome sequencing in severe early-onset epilepsy reveals new genes and improves molecular diagnosis

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