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A recurrent de novo variant in NUSAP1 escapes nonsense‐mediated decay and leads to microcephaly, epilepsy, and developmental delay

Clinical genetics, 2023-07, Vol.104 (1), p.73-80

2023

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Biallelic deletion in a minimal CAPN15 intron in siblings with a recognizable syndrome of congenital malformations and developmental delay

Clinical genetics, 2021-04, Vol.99 (4), p.577-582

2021

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De novo variant in AMOTL1 in infant with cleft lip and palate, imperforate anus and dysmorphic features

American journal of medical genetics. Part A, 2021-01, Vol.185 (1), p.190-195

2021

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Differentiation shifts from a reversible to an irreversible heterochromatin state at the DM1 locus

Nature communications, 2024-04, Vol.15 (1), p.3270-3270, Article 3270

2024

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CRISPR/Cas9-induced gene conversion between ATAD3 paralogs

HGG advances, 2022-04, Vol.3 (2), p.100092-100092, Article 100092

2022

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FMR1 Epigenetic Silencing Commonly Occurs in Undifferentiated Fragile X-Affected Embryonic Stem Cells

Stem cell reports, 2014-11, Vol.3 (5), p.699-706

2014

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Uncovering the Role of Hypermethylation by CTG Expansion in Myotonic Dystrophy Type 1 Using Mutant Human Embryonic Stem Cells

Stem cell reports, 2015-08, Vol.5 (2), p.221-231

2015

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DMPK hypermethylation in sperm cells of myotonic dystrophy type 1 patients

European journal of human genetics : EJHG, 2022-08, Vol.30 (8), p.980-983

2022

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Complex rearrangement in TBC1D4 in an individual with diabetes due to severe insulin resistance syndrome

European journal of human genetics : EJHG, 2024-02, Vol.32 (2), p.232-237

2024

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Infantile SOD1 deficiency syndrome caused by a homozygous SOD1 variant with absence of enzyme activity

Brain (London, England : 1878), 2022-04, Vol.145 (3), p.872-878

2022

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Consolidating the association of biallelic MAPKAPK5 pathogenic variants with a distinct syndromic neurodevelopmental disorder

Journal of medical genetics, 2023-08, Vol.60 (8), p.791-796

2023

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Unbiased phenotype and genotype matching maximizes gene discovery and diagnostic yield

Genetics in medicine, 2024-04, Vol.26 (4), p.101068, Article 101068

2024

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USP27X variants underlying X-linked intellectual disability disrupt protein function via distinct mechanisms

Life science alliance, 2024-03, Vol.7 (3), p.e202302258

2024

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Modeling diseases of noncoding unstable repeat expansions using mutant pluripotent stem cells

World journal of stem cells, 2015-06, Vol.7 (5), p.823-838

2015

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Levodopa-responsive dystonia caused by biallelic PRKN exon inversion invisible to exome sequencing

Brain communications, 2021-01, Vol.3 (3), p.fcab197-fcab197

2021

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De novo variant in AMOTL1 in infant with cleft lip and palate, imperforate anus and dysmorphic features

American journal of medical genetics. Part A, 2021, Vol.185 (1), p.190-195

2021

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A recurrent de novo variant in NUSAP1 escapes nonsense‐mediated decay and leads to microcephaly, epilepsy, and developmental delay

Biallelic deletion in a minimal CAPN15 intron in siblings with a recognizable syndrome of congenital malformations and developmental delay

De novo variant in AMOTL1 in infant with cleft lip and palate, imperforate anus and dysmorphic features

Differentiation shifts from a reversible to an irreversible heterochromatin state at the DM1 locus

CRISPR/Cas9-induced gene conversion between ATAD3 paralogs

FMR1 Epigenetic Silencing Commonly Occurs in Undifferentiated Fragile X-Affected Embryonic Stem Cells

Uncovering the Role of Hypermethylation by CTG Expansion in Myotonic Dystrophy Type 1 Using Mutant Human Embryonic Stem Cells

DMPK hypermethylation in sperm cells of myotonic dystrophy type 1 patients

Complex rearrangement in TBC1D4 in an individual with diabetes due to severe insulin resistance syndrome

Infantile SOD1 deficiency syndrome caused by a homozygous SOD1 variant with absence of enzyme activity

Consolidating the association of biallelic MAPKAPK5 pathogenic variants with a distinct syndromic neurodevelopmental disorder

Unbiased phenotype and genotype matching maximizes gene discovery and diagnostic yield

USP27X variants underlying X-linked intellectual disability disrupt protein function via distinct mechanisms

Modeling diseases of noncoding unstable repeat expansions using mutant pluripotent stem cells

Levodopa-responsive dystonia caused by biallelic PRKN exon inversion invisible to exome sequencing

De novo variant in AMOTL1 in infant with cleft lip and palate, imperforate anus and dysmorphic features

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