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The attenuated end of the phenotypic spectrum in MPS III: from late-onset stable cognitive impairment to a non-neuronopathic phenotype

Orphanet journal of rare diseases, 2019-11, Vol.14 (1), p.249-249, Article 249

2019

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LRP10 interacts with SORL1 in the intracellular vesicle trafficking pathway in non-neuronal brain cells and localises to Lewy bodies in Parkinson’s disease and dementia with Lewy bodies

Acta neuropathologica, 2021-07, Vol.142 (1), p.117-137

2021

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Whole exome sequencing of known eye genes reveals genetic causes for high myopia

Human molecular genetics, 2022-09, Vol.31 (19), p.3290-3298

2022

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Early onset X‐linked female limited high myopia in three multigenerational families caused by novel mutations in the ARR3 gene

Human mutation, 2022-03, Vol.43 (3), p.380-388

2022

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Targeted Next Generation Sequencing reveals previously unidentified TSC1 and TSC2 mutations

BMC medical genetics, 2015-02, Vol.16 (1), p.10-10, Article 10

2015

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Autosomal Recessive Spinocerebellar Ataxia 7 (SCAR7) is Caused by Variants in TPP1, The Gene Involved in Classic Late-Infantile Neuronal Ceroid Lipofuscinosis 2 Disease (CLN2 Disease)

Human mutation, 2013-05, Vol.34 (5), p.706-713

2013

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Mindfulness-Based Stress Reduction in Pre-symptomatic Genetic Frontotemporal Dementia: A Pilot Study

Frontiers in psychiatry, 2022-04, Vol.13, p.864391

2022

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Hypomorphic NOTCH3 Alleles Do Not Cause CADASIL in Humans

Human mutation, 2013-11, Vol.34 (11), p.1486-1489

2013

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A balanced translocation disrupting BCL2L10 and PNLDC1 segregates with affective psychosis

American journal of medical genetics. Part B, Neuropsychiatric genetics, 2017-04, Vol.174 (3), p.214-219

2017

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The phenotypic spectrum and genotype-phenotype correlations in 106 patients with variants in major autism gene CHD8

Translational psychiatry, 2022-10, Vol.12 (1), p.421-421, Article 421

2022

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Mutations in TMEM230 are not a common cause of Parkinson's disease

Movement disorders, 2017-02, Vol.32 (2), p.302-304

2017

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Mutations in VPS13D lead to a new recessive ataxia with spasticity and mitochondrial defects

Annals of neurology, 2018-06, Vol.83 (6), p.1075-1088

2018

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Experience in Genetic Counseling for GBA1 Variants in Parkinson's Disease

Movement disorders clinical practice (Hoboken, N.J.), 2021-01, Vol.8 (1), p.33-36

2021

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Gray and white matter changes in presymptomatic genetic frontotemporal dementia: a longitudinal MRI study

Neurobiology of aging, 2019-04, Vol.76, p.115-124

2019

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Underlying genetic variation in familial frontotemporal dementia: sequencing of 198 patients

Neurobiology of aging, 2021-01, Vol.97, p.148.e9-148.e16

2021

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DNAJC6 Mutations Associated With Early-Onset Parkinson's Disease

Annals of neurology, 2016-02, Vol.79 (2), p.244-256

2016

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De novo and bi-allelic variants in AP1G1 cause neurodevelopmental disorder with developmental delay, intellectual disability, and epilepsy

American journal of human genetics, 2021-07, Vol.108 (7), p.1330-1341

2021

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Bi-allelic variants in the ER quality-control mannosidase gene EDEM3 cause a congenital disorder of glycosylation

American journal of human genetics, 2021-07, Vol.108 (7), p.1342-1349

2021

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Copy Number Variation in Syndromic Forms of Psychiatric Illness: The Emerging Value of Clinical Genetic Testing in Psychiatry

The American journal of psychiatry, 2017-11, Vol.174 (11), p.1036-1050

2017

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Diagnostic exome sequencing in 266 Dutch patients with visual impairment

European journal of human genetics : EJHG, 2017-05, Vol.25 (5), p.591-599

2017

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Clinical utility gene card for: tuberous sclerosis complex (TSC1, TSC2)

European journal of human genetics : EJHG, 2014-02, Vol.22 (2), p.293-293

2014

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Autosomal dominant restless legs syndrome maps to chromosome 20p13 (RLS-5) in a Dutch kindred

Movement disorders, 2010-08, Vol.25 (11), p.1715-1722

2010

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A new alpha-synuclein missense variant (Thr72Met) in two Turkish families with Parkinson's disease

Parkinsonism & related disorders, 2021-08, Vol.89, p.63-72

2021

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The attenuated end of the phenotypic spectrum in MPS III: from late-onset stable cognitive impairment to a non-neuronopathic phenotype

LRP10 interacts with SORL1 in the intracellular vesicle trafficking pathway in non-neuronal brain cells and localises to Lewy bodies in Parkinson’s disease and dementia with Lewy bodies

Whole exome sequencing of known eye genes reveals genetic causes for high myopia

Early onset X‐linked female limited high myopia in three multigenerational families caused by novel mutations in the ARR3 gene

Targeted Next Generation Sequencing reveals previously unidentified TSC1 and TSC2 mutations

Paroxysmal exercise-induced dystonia within the phenotypic spectrum of ECHS1 deficiency

Autosomal Recessive Spinocerebellar Ataxia 7 (SCAR7) is Caused by Variants in TPP1, The Gene Involved in Classic Late-Infantile Neuronal Ceroid Lipofuscinosis 2 Disease (CLN2 Disease)

Mindfulness-Based Stress Reduction in Pre-symptomatic Genetic Frontotemporal Dementia: A Pilot Study

Hypomorphic NOTCH3 Alleles Do Not Cause CADASIL in Humans

A balanced translocation disrupting BCL2L10 and PNLDC1 segregates with affective psychosis

The phenotypic spectrum and genotype-phenotype correlations in 106 patients with variants in major autism gene CHD8

Mutations in TMEM230 are not a common cause of Parkinson's disease

Mutations in VPS13D lead to a new recessive ataxia with spasticity and mitochondrial defects

Experience in Genetic Counseling for GBA1 Variants in Parkinson's Disease

Gray and white matter changes in presymptomatic genetic frontotemporal dementia: a longitudinal MRI study

Underlying genetic variation in familial frontotemporal dementia: sequencing of 198 patients

DNAJC6 Mutations Associated With Early-Onset Parkinson's Disease

De novo and bi-allelic variants in AP1G1 cause neurodevelopmental disorder with developmental delay, intellectual disability, and epilepsy

Web-accessible application for identifying pathogenic transcripts with RNA-seq: Increased sensitivity in diagnosis of neurodevelopmental disorders

Bi-allelic variants in the ER quality-control mannosidase gene EDEM3 cause a congenital disorder of glycosylation

Copy Number Variation in Syndromic Forms of Psychiatric Illness: The Emerging Value of Clinical Genetic Testing in Psychiatry

Diagnostic exome sequencing in 266 Dutch patients with visual impairment

Clinical utility gene card for: tuberous sclerosis complex (TSC1, TSC2)

Autosomal dominant restless legs syndrome maps to chromosome 20p13 (RLS-5) in a Dutch kindred

A new alpha-synuclein missense variant (Thr72Met) in two Turkish families with Parkinson's disease

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