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30 years of repeat expansion disorders: What have we learned and what are the remaining challenges?

American journal of human genetics, 2021-05, Vol.108 (5), p.764-785

2021

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XLID-Causing Mutations and Associated Genes Challenged in Light of Data From Large-Scale Human Exome Sequencing

American journal of human genetics, 2013-08, Vol.93 (2), p.368-383

2013

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G-quadruplex RNA structure as a signal for neurite mRNA targeting

EMBO reports, 2011-07, Vol.12 (7), p.697-704

2011

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Neurocognitive and neurobehavioral characterization of two frequent forms of neurodevelopmental disorders: the DYRK1A and the Wiedemann–Steiner syndromes

Clinical genetics, 2022-10, Vol.102 (4), p.296-304

2022

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Spatial control of nucleoporin condensation by fragile X‐related proteins

The EMBO journal, 2020-10, Vol.39 (20), p.e104467-n/a

2020

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Speech and language in DDX3X‐neurodevelopmental disorder: A call for early augmentative and alternative communication intervention

American journal of medical genetics. Part B, Neuropsychiatric genetics, 2024-09, Vol.195 (6), p.e32971-n/a

2024

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Novel mutations in NLGN3 causing autism spectrum disorder and cognitive impairment

Human mutation, 2019-11, Vol.40 (11), p.2021-2032

2019

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Genes and Pathways Regulated by Androgens in Human Neural Cells, Potential Candidates for the Male Excess in Autism Spectrum Disorder

Biological psychiatry (1969), 2018-08, Vol.84 (4), p.239-252

2018

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AAV‐delivered diacylglycerol kinase DGKk achieves long‐term rescue of fragile X syndrome mouse model

EMBO molecular medicine, 2022-05, Vol.14 (5), p.e14649-n/a

2022

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Lack of myotubularin (MTM1) leads to muscle hypotrophy through unbalanced regulation of the autophagy and ubiquitin‐proteasome pathways

The FASEB journal, 2013-08, Vol.27 (8), p.3384-3394

2013

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Identification of a novel mutation confirms the implication of IFT172 (BBS20) in Bardet-Biedl syndrome

Journal of human genetics, 2016-05, Vol.61 (5), p.447-450

2016

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Clinical and radiological assessment of scoliosis in Koolen‐de Vries syndrome

American journal of medical genetics. Part A, 2023-09, Vol.191 (9), p.2346-2355

2023

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Fragile X Mental Retardation Protein (FMRP) controls diacylglycerol kinase activity in neurons

Proceedings of the National Academy of Sciences - PNAS, 2016-06, Vol.113 (26), p.E3619-E3628

2016

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The G-quartet containing FMRP binding site in FMR1 mRNA is a potent exonic splicing enhancer

Nucleic acids research, 2008-09, Vol.36 (15), p.4902-4912

2008

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T-tubule disorganization and defective excitation-contraction coupling in muscle fibers lacking myotubularin lipid phosphatase

Proceedings of the National Academy of Sciences - PNAS, 2009-11, Vol.106 (44), p.18763-18768

2009

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Targeted high-throughput sequencing for diagnosis of genetically heterogeneous diseases: efficient mutation detection in Bardet-Biedl and Alström Syndromes

Journal of medical genetics, 2012-08, Vol.49 (8), p.502-512

2012

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The impact of lockdown on young people with genetic neurodevelopmental disabilities: a study with the international participatory database GenIDA

BMC psychiatry, 2022-08, Vol.22 (1), p.572-12, Article 572

2022

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Adult-onset autosomal dominant centronuclear myopathy due to BIN1 mutations

Brain (London, England : 1878), 2014-12, Vol.137 (Pt 12), p.3160-3170

2014

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Increased Expression of Wild-Type or a Centronuclear Myopathy Mutant of Dynamin 2 in Skeletal Muscle of Adult Mice Leads to Structural Defects and Muscle Weakness

The American journal of pathology, 2011-05, Vol.178 (5), p.2224-2235

2011

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Ten new cases further delineate the syndromic intellectual disability phenotype caused by mutations in DYRK1A

European journal of human genetics : EJHG, 2015-04, Vol.23 (11), p.1482-1487

2015

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Defects in amphiphysin 2 (BIN1) and triads in several forms of centronuclear myopathies

Acta neuropathologica, 2011-02, Vol.121 (2), p.253-266

2011

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Novel de novo mutations in ZBTB20 in Primrose syndrome with congenital hypothyroidism

American journal of medical genetics. Part A, 2016-06, Vol.170A (6), p.1626-1629

2016

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Next generation sequencing for molecular diagnosis of neuromuscular diseases

Acta neuropathologica, 2012-08, Vol.124 (2), p.273-283

2012

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30 years of repeat expansion disorders: What have we learned and what are the remaining challenges?

XLID-Causing Mutations and Associated Genes Challenged in Light of Data From Large-Scale Human Exome Sequencing

G-quadruplex RNA structure as a signal for neurite mRNA targeting

Neurocognitive and neurobehavioral characterization of two frequent forms of neurodevelopmental disorders: the DYRK1A and the Wiedemann–Steiner syndromes

Spatial control of nucleoporin condensation by fragile X‐related proteins

Speech and language in DDX3X‐neurodevelopmental disorder: A call for early augmentative and alternative communication intervention

Novel mutations in NLGN3 causing autism spectrum disorder and cognitive impairment

Genes and Pathways Regulated by Androgens in Human Neural Cells, Potential Candidates for the Male Excess in Autism Spectrum Disorder

AAV‐delivered diacylglycerol kinase DGKk achieves long‐term rescue of fragile X syndrome mouse model

A BBS1 SVA F retrotransposon insertion is a frequent cause of Bardet‐Biedl syndrome

Lack of myotubularin (MTM1) leads to muscle hypotrophy through unbalanced regulation of the autophagy and ubiquitin‐proteasome pathways

Identification of a novel mutation confirms the implication of IFT172 (BBS20) in Bardet-Biedl syndrome

Clinical and radiological assessment of scoliosis in Koolen‐de Vries syndrome

Fragile X Mental Retardation Protein (FMRP) controls diacylglycerol kinase activity in neurons

The G-quartet containing FMRP binding site in FMR1 mRNA is a potent exonic splicing enhancer

De Novo Frameshift Variants in the Neuronal Splicing Factor NOVA2 Result in a Common C-Terminal Extension and Cause a Severe Form of Neurodevelopmental Disorder

T-tubule disorganization and defective excitation-contraction coupling in muscle fibers lacking myotubularin lipid phosphatase

Targeted high-throughput sequencing for diagnosis of genetically heterogeneous diseases: efficient mutation detection in Bardet-Biedl and Alström Syndromes

The impact of lockdown on young people with genetic neurodevelopmental disabilities: a study with the international participatory database GenIDA

Adult-onset autosomal dominant centronuclear myopathy due to BIN1 mutations

Increased Expression of Wild-Type or a Centronuclear Myopathy Mutant of Dynamin 2 in Skeletal Muscle of Adult Mice Leads to Structural Defects and Muscle Weakness

Ten new cases further delineate the syndromic intellectual disability phenotype caused by mutations in DYRK1A

Defects in amphiphysin 2 (BIN1) and triads in several forms of centronuclear myopathies

Novel de novo mutations in ZBTB20 in Primrose syndrome with congenital hypothyroidism

Next generation sequencing for molecular diagnosis of neuromuscular diseases

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