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Deep structured learning for variant prioritization in Mendelian diseases

Nature communications, 2023-07, Vol.14 (1), p.4167-4167, Article 4167

2023

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Commentary: SPTBN5, encoding the βV-spectrin protein, leads to a syndrome of intellectual disability, developmental delay, and seizures

Frontiers in molecular neuroscience, 2022-09, Vol.15, p.1011856-1011856

2022

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The expanding genetic landscape of hereditary motor neuropathies

Brain (London, England : 1878), 2020-12, Vol.143 (12), p.3540-3563

2020

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Heterozygous POLG variant Ser1181Asn is associated with autosomal dominant neuro-myopathy in one family with no further specific manifestations of mitochondrial syndrome

Neurological research and practice, 2022-07, Vol.4 (1), p.34-2, Article 34

2022

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Exome reanalysis and proteomic profiling identified TRIP4 as a novel cause of cerebellar hypoplasia and spinal muscular atrophy (PCH1)

European journal of human genetics : EJHG, 2021-09, Vol.29 (9), p.1348-1353

2021

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Heterozygous POLG variant Ser1181Asn co-segregating in a family with autosomal dominant axonal neuropathy, proximal muscle fatigability, ptosis, and ragged red fibers

Neurological research and practice, 2022-02, Vol.4 (1), p.5-5, Article 5

2022

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Defects in Axonal Transport in Inherited Neuropathies

Journal of neuromuscular diseases, 2019-01, Vol.6 (4), p.401-419

2019

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P171: Developing an approach to screening rare genetic diagnoses for amenability to bespoke genetic therapy development

Genetics in Medicine Open, 2024, Vol.2, p.101068, Article 101068

2024

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Reply: De novo SPTAN1 mutation in axonal sensorimotor neuropathy and developmental disorder

Brain (London, England : 1878), 2020-12, Vol.143 (12), p.e105-e105

2020

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Unrestrained poly-ADP-ribosylation provides insights into chromatin regulation and human disease

Molecular cell, 2021-06, Vol.81 (12), p.2640-2655.e8

2021

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Deep Intronic FGF14 GAA Repeat Expansion in Late-Onset Cerebellar Ataxia

The New England journal of medicine, 2023-01, Vol.388 (2), p.128-141

2023

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PCYT2 mutations disrupting etherlipid biosynthesis: phenotypes converging on the CDP-ethanolamine pathway

Brain (London, England : 1878), 2021-03, Vol.144 (2), p.e17-e17

2021

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Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases

European journal of human genetics : EJHG, 2021-09, Vol.29 (9), p.1325-1331

2021

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RFC1 repeat expansions: A recurrent cause of sensory and autonomic neuropathy with cough and ataxia

European journal of neurology, 2022-07, Vol.29 (7), p.2156-2161

2022

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Nonsense mutations in alpha-II spectrin in three families with juvenile onset hereditary motor neuropathy

Brain (London, England : 1878), 2019-09, Vol.142 (9), p.2605-2616

2019

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Ataxia And Cough Are Indicative For Biallelic RFC1 Repeat Expansions In Hereditary Sensory And Autonomic Neuropathy (S29.010)

Neurology, 2022-05, Vol.98 (18_supplement)

2022

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Solving patients with rare diseases through programmatic reanalysis of genome-phenome data

European journal of human genetics : EJHG, 2021-09, Vol.29 (9), p.1337-1347

2021

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Recurrent de-novo gain-of-function mutation in SPTLC2 confirms dysregulated sphingolipid production to cause juvenile amyotrophic lateral sclerosis

Journal of neurology, neurosurgery and psychiatry, 2024-03, Vol.95 (3), p.201-205

2024

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BiP inactivation due to loss of the deAMPylation function of FICD causes a motor neuron disease

Genetics in medicine, 2022-12, Vol.24 (12), p.2487-2500

2022

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De Novo and Inherited Variants in GBF1 are Associated with Axonal Neuropathy Caused by Golgi Fragmentation

American journal of human genetics, 2020-10, Vol.107 (4), p.763-777

2020

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Childhood Onset Amyotrophic Lateral Sclerosis Associated with SPTLC2 Gain-of-Function Pathogenic Variants: Clinical, Genetic, and Biochemical Insights (P4-8.001)

Neurology, 2024-04, Vol.102 (17_supplement_1)

2024

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Genetic landscape of congenital insensitivity to pain and hereditary sensory and autonomic neuropathies

Brain (London, England : 1878), 2023-12, Vol.146 (12), p.4880-4890

2023

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Mutations in MYO9B are associated with Charcot–Marie–Tooth disease type 2 neuropathies and isolated optic atrophy

European journal of neurology, 2023-02, Vol.30 (2), p.511-526

2023

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Deep structured learning for variant prioritization in Mendelian diseases

Commentary: SPTBN5, encoding the βV-spectrin protein, leads to a syndrome of intellectual disability, developmental delay, and seizures

The expanding genetic landscape of hereditary motor neuropathies

Heterozygous POLG variant Ser1181Asn is associated with autosomal dominant neuro-myopathy in one family with no further specific manifestations of mitochondrial syndrome

Exome reanalysis and proteomic profiling identified TRIP4 as a novel cause of cerebellar hypoplasia and spinal muscular atrophy (PCH1)

Characterization of HNRNPA1 mutations defines diversity in pathogenic mechanisms and clinical presentation

Heterozygous POLG variant Ser1181Asn co-segregating in a family with autosomal dominant axonal neuropathy, proximal muscle fatigability, ptosis, and ragged red fibers

Defects in Axonal Transport in Inherited Neuropathies

P171: Developing an approach to screening rare genetic diagnoses for amenability to bespoke genetic therapy development

Reply: De novo SPTAN1 mutation in axonal sensorimotor neuropathy and developmental disorder

Unrestrained poly-ADP-ribosylation provides insights into chromatin regulation and human disease

Deep Intronic FGF14 GAA Repeat Expansion in Late-Onset Cerebellar Ataxia

PCYT2 mutations disrupting etherlipid biosynthesis: phenotypes converging on the CDP-ethanolamine pathway

Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases

A recurrent missense variant in ITPR3 causes demyelinating Charcot-Marie-Tooth with variable severity

RFC1 repeat expansions: A recurrent cause of sensory and autonomic neuropathy with cough and ataxia

Nonsense mutations in alpha-II spectrin in three families with juvenile onset hereditary motor neuropathy

Ataxia And Cough Are Indicative For Biallelic RFC1 Repeat Expansions In Hereditary Sensory And Autonomic Neuropathy (S29.010)

Solving patients with rare diseases through programmatic reanalysis of genome-phenome data

Recurrent de-novo gain-of-function mutation in SPTLC2 confirms dysregulated sphingolipid production to cause juvenile amyotrophic lateral sclerosis

BiP inactivation due to loss of the deAMPylation function of FICD causes a motor neuron disease

De Novo and Inherited Variants in GBF1 are Associated with Axonal Neuropathy Caused by Golgi Fragmentation

Childhood Onset Amyotrophic Lateral Sclerosis Associated with SPTLC2 Gain-of-Function Pathogenic Variants: Clinical, Genetic, and Biochemical Insights (P4-8.001)

Genetic landscape of congenital insensitivity to pain and hereditary sensory and autonomic neuropathies

Mutations in MYO9B are associated with Charcot–Marie–Tooth disease type 2 neuropathies and isolated optic atrophy

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