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Activating Mutations in PAK1, Encoding p21-Activated Kinase 1, Cause a Neurodevelopmental Disorder

American journal of human genetics, 2018-10, Vol.103 (4), p.579-591

2018

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Functional analysis of CASK transcript variants expressed in human brain

PloS one, 2021-06, Vol.16 (6), p.e0253223-e0253223

2021

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INPP4A-related genetic and phenotypic spectrum and functional relevance of subcellular targeting of INPP4A isoforms

Neurogenetics, 2023-04, Vol.24 (2), p.79-93

2023

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Cardiofacioneurodevelopmental syndrome: Report of a novel patient and expansion of the phenotype

American journal of medical genetics. Part A, 2022-08, Vol.188 (8), p.2448-2453

2022

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A deep intronic variant in DNM1 in a patient with developmental and epileptic encephalopathy creates a splice acceptor site and affects only transcript variants including exon 10a

Neurogenetics, 2023-07, Vol.24 (3), p.171-180

2023

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A homozygous ATAD1 mutation impairs postsynaptic AMPA receptor trafficking and causes a lethal encephalopathy

Brain (London, England : 1878), 2018-03, Vol.141 (3), p.651-661

2018

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The lysosomal storage disorders mucolipidosis type II, type III alpha/beta, and type III gamma: Update on GNPTAB and GNPTG mutations

Human mutation, 2019-07, Vol.40 (7), p.842-864, Article humu.23748

2019

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Biallelic FRA10AC1 variants cause a neurodevelopmental disorder with growth retardation

Brain (London, England : 1878), 2022-05, Vol.145 (4), p.1551-1563

2022

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Biallelic variants in SMAD6 are associated with a complex cardiovascular phenotype

Human genetics, 2019-06, Vol.138 (6), p.625-634

2019

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Loss of TBC1D2B causes a progressive neurological disorder with gingival overgrowth

European journal of human genetics : EJHG, 2024-05, Vol.32 (5), p.558-566

2024

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Mannose receptor induces T-cell tolerance via inhibition of CD45 and up-regulation of CTLA-4

Proceedings of the National Academy of Sciences - PNAS, 2016-09, Vol.113 (38), p.10649-10654

2016

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Delineating SPTAN1 associated phenotypes: from isolated epilepsy to encephalopathy with progressive brain atrophy

Brain (London, England : 1878), 2017-09, Vol.140 (9), p.2322-2336

2017

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Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome-1 in two new patients with the same homozygous TMCO1 variant and review of the literature

European journal of medical genetics, 2023-03, Vol.66 (3), p.104715-104715, Article 104715

2023

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MCM complex members MCM3 and MCM7 are associated with a phenotypic spectrum from Meier-Gorlin syndrome to lipodystrophy and adrenal insufficiency

European journal of human genetics : EJHG, 2021-07, Vol.29 (7), p.1110-1120

2021

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Biallelic loss‐of‐function variants in TBC1D2B cause a neurodevelopmental disorder with seizures and gingival overgrowth

Human mutation, 2020-09, Vol.41 (9), p.1645-1661

2020

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Combined in vitro and in silico analyses of missense mutations in GNPTAB provide new insights into the molecular bases of mucolipidosis II and III alpha/beta

Human mutation, 2020-01, Vol.41 (1), p.133-139

2020

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De novo PHF5A variants are associated with craniofacial abnormalities, developmental delay, and hypospadias

Genetics in medicine, 2023-11, Vol.25 (11), p.100964-100964, Article 100964

2023

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Biallelic and De Novo Variants in DONSON Reveal a Clinical Spectrum of Cell Cycle‐opathies with Microcephaly, Dwarfism and Skeletal Abnormalities

American journal of medical genetics. Part A, 2019-10, Vol.179 (10), p.2056-2066

2019

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Complete lung agenesis caused by complex genomic rearrangements with neo-TAD formation at the SHH locus

Human genetics, 2021-10, Vol.140 (10), p.1459-1469

2021

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De novo PHF5A variants are associated with craniofacial abnormalities, developmental delay, and hypospadias

Genetics in medicine, 2023-10, Vol.25 (10), p.100927-100927, Article 100927

2023

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Elsahy–Waters syndrome is caused by biallelic mutations in CDH11

American journal of medical genetics. Part A, 2018-02, Vol.176 (2), p.477-482

2018

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Single-channel properties of skeletal muscle ryanodine receptor pore Δ4923FF4924 in two brothers with a lethal form of fetal akinesia

Cell calcium (Edinburgh), 2020-05, Vol.87, p.102182-102182, Article 102182

2020

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The novel RAF1 mutation p.(Gly361Ala) located outside the kinase domain of the CR3 region in two patients with Noonan syndrome, including one with a rare brain tumor

American journal of medical genetics. Part A, 2018-02, Vol.176 (2), p.470-476

2018

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Phenotypic variability in patients with interstitial 6q21-q22 microdeletion and Acro-Cardio-Facial syndrome

American journal of medical genetics. Part A, 2016-11, Vol.170A (11), p.2998-3003

2016

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Reply: ATAD1 encephalopathy and stiff baby syndrome: a recognizable clinical presentation

Brain (London, England : 1878), 2018-06, Vol.141 (6), p.e50-e50

2018

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Activating Mutations in PAK1, Encoding p21-Activated Kinase 1, Cause a Neurodevelopmental Disorder

Functional analysis of CASK transcript variants expressed in human brain

INPP4A-related genetic and phenotypic spectrum and functional relevance of subcellular targeting of INPP4A isoforms

Cardiofacioneurodevelopmental syndrome: Report of a novel patient and expansion of the phenotype

A deep intronic variant in DNM1 in a patient with developmental and epileptic encephalopathy creates a splice acceptor site and affects only transcript variants including exon 10a

A homozygous ATAD1 mutation impairs postsynaptic AMPA receptor trafficking and causes a lethal encephalopathy

The lysosomal storage disorders mucolipidosis type II, type III alpha/beta, and type III gamma: Update on GNPTAB and GNPTG mutations

Biallelic FRA10AC1 variants cause a neurodevelopmental disorder with growth retardation

Biallelic variants in SMAD6 are associated with a complex cardiovascular phenotype

Loss of TBC1D2B causes a progressive neurological disorder with gingival overgrowth

Mannose receptor induces T-cell tolerance via inhibition of CD45 and up-regulation of CTLA-4

Delineating SPTAN1 associated phenotypes: from isolated epilepsy to encephalopathy with progressive brain atrophy

Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome-1 in two new patients with the same homozygous TMCO1 variant and review of the literature

MCM complex members MCM3 and MCM7 are associated with a phenotypic spectrum from Meier-Gorlin syndrome to lipodystrophy and adrenal insufficiency

Biallelic loss‐of‐function variants in TBC1D2B cause a neurodevelopmental disorder with seizures and gingival overgrowth

Combined in vitro and in silico analyses of missense mutations in GNPTAB provide new insights into the molecular bases of mucolipidosis II and III alpha/beta

De novo PHF5A variants are associated with craniofacial abnormalities, developmental delay, and hypospadias

Biallelic and De Novo Variants in DONSON Reveal a Clinical Spectrum of Cell Cycle‐opathies with Microcephaly, Dwarfism and Skeletal Abnormalities

Complete lung agenesis caused by complex genomic rearrangements with neo-TAD formation at the SHH locus

De novo PHF5A variants are associated with craniofacial abnormalities, developmental delay, and hypospadias

Elsahy–Waters syndrome is caused by biallelic mutations in CDH11

Single-channel properties of skeletal muscle ryanodine receptor pore Δ4923FF4924 in two brothers with a lethal form of fetal akinesia

The novel RAF1 mutation p.(Gly361Ala) located outside the kinase domain of the CR3 region in two patients with Noonan syndrome, including one with a rare brain tumor

Phenotypic variability in patients with interstitial 6q21-q22 microdeletion and Acro-Cardio-Facial syndrome

Reply: ATAD1 encephalopathy and stiff baby syndrome: a recognizable clinical presentation

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