Lista de obras -

A novel de novo frameshift deletion in EHMT1 in a patient with Kleefstra Syndrome results in decreased H3K9 dimethylation

scientific article published on 26 January 2017

A novel splice site variant in CYP11A1 in trans with the p.E314K variant in a male patient with congenital adrenal insufficiency.

artículo científico publicado en 2017

A second cohort of CHD3 patients expands the molecular mechanisms known to cause Snijders Blok-Campeau syndrome

artículo científico publicado en 2020

BARD1 nonsense variant c.1921C>T in a patient with recurrent breast cancer.

artículo científico publicado en 2017

CTCF variants in 39 individuals with a variable neurodevelopmental disorder broaden the mutational and clinical spectrum

artículo científico publicado en 2019

Characterization of three ciliopathy pedigrees expands the phenotype associated with biallelic C2CD3 variants

artículo científico publicado en 2018

Co-occurrence of a novel PDGFRB variant and likely pathogenic variant in CASR in an individual with extensive intracranial calcifications and hypocalcaemia.

artículo científico publicado en 2017

Cryptic and atypical KMT2A-USP2 and KMT2A-USP8 rearrangements identified by mate pair sequencing in infant and childhood leukemia

scientific article published on 20 March 2020

De novo DDX3X missense variants in males appear viable and contribute to syndromic intellectual disability

artículo científico publicado en 2019

Expanded phenotype in a patient with spastic paraplegia 7.

artículo científico publicado en 2017

Expanding the clinical and phenotypic heterogeneity associated with biallelic variants in ACO2

artículo científico publicado en 2020

Extension of the mutational and clinical spectrum of SOX2 related disorders: Description of six new cases and a novel association with suprasellar teratoma

scientific article published on 18 November 2018

Further delineation of the phenotypic spectrum associated with hemizygous loss-of-function variants in NONO

artículo científico publicado en 2019

Molecular modeling and molecular dynamic simulation of the effects of variants in the TGFBR2 kinase domain as a paradigm for interpretation of variants obtained by next generation sequencing.

artículo científico publicado en 2017

Novel de novo variant in EBF3 is likely to impact DNA binding in a patient with a neurodevelopmental disorder and expanded phenotypes: patient report, in silico functional assessment, and review of published cases

artículo científico publicado en 2017

PIK3CA mutations in lipomatosis of nerve with or without nerve territory overgrowth

artículo científico publicado en 2019

Pharmacogenomic findings from clinical whole exome sequencing of diagnostic odyssey patients

artículo científico

Protein modeling and clinical description of a novel in-frame GLB1 deletion causing GM1 gangliosidosis type II

artículo científico publicado en 2018

RNA sequencing identifies a novel USP9X-USP6 promoter swap gene fusion in a primary aneurysmal bone cyst

scientific article published on 06 March 2019

RNA-Seq detects a SAMD12-EXT1 fusion transcript and leads to the discovery of an EXT1 deletion in a child with multiple osteochondromas

artículo científico publicado en 2019

Structural Models for the Dynamic Effects of Loss-of-Function Variants in the Human SIM1 Protein Transcriptional Activation Domain

scientific article published on 12 September 2020

Variable expressivity of syndromic BMP4-related eye, brain, and digital anomalies: A review of the literature and description of three new cases

scientific article published on 03 May 2019

Whole exome sequencing of a patient with suspected mitochondrial myopathy reveals novel compound heterozygous variants in RYR1.

artículo científico publicado en 2017

deficiency causes a wide tumor spectrum and increases embryonal rhabdomyosarcoma metastasis in zebrafish

artículo científico publicado en 2018

point mutations and familial intracranial aneurysms

scientific article published on 09 November 2018

Lista de obras de

A novel de novo frameshift deletion in EHMT1 in a patient with Kleefstra Syndrome results in decreased H3K9 dimethylation

A novel splice site variant in CYP11A1 in trans with the p.E314K variant in a male patient with congenital adrenal insufficiency.

A second cohort of CHD3 patients expands the molecular mechanisms known to cause Snijders Blok-Campeau syndrome

BARD1 nonsense variant c.1921C>T in a patient with recurrent breast cancer.

CTCF variants in 39 individuals with a variable neurodevelopmental disorder broaden the mutational and clinical spectrum

Characterization of three ciliopathy pedigrees expands the phenotype associated with biallelic C2CD3 variants

Co-occurrence of a novel PDGFRB variant and likely pathogenic variant in CASR in an individual with extensive intracranial calcifications and hypocalcaemia.

Cryptic and atypical KMT2A-USP2 and KMT2A-USP8 rearrangements identified by mate pair sequencing in infant and childhood leukemia

De novo DDX3X missense variants in males appear viable and contribute to syndromic intellectual disability

Expanded phenotype in a patient with spastic paraplegia 7.

Expanding the clinical and phenotypic heterogeneity associated with biallelic variants in ACO2

Extension of the mutational and clinical spectrum of SOX2 related disorders: Description of six new cases and a novel association with suprasellar teratoma

Further delineation of the phenotypic spectrum associated with hemizygous loss-of-function variants in NONO

Molecular modeling and molecular dynamic simulation of the effects of variants in the TGFBR2 kinase domain as a paradigm for interpretation of variants obtained by next generation sequencing.

Novel de novo variant in EBF3 is likely to impact DNA binding in a patient with a neurodevelopmental disorder and expanded phenotypes: patient report, in silico functional assessment, and review of published cases

PIK3CA mutations in lipomatosis of nerve with or without nerve territory overgrowth

Pharmacogenomic findings from clinical whole exome sequencing of diagnostic odyssey patients

Protein modeling and clinical description of a novel in-frame GLB1 deletion causing GM1 gangliosidosis type II

RNA sequencing identifies a novel USP9X-USP6 promoter swap gene fusion in a primary aneurysmal bone cyst

RNA-Seq detects a SAMD12-EXT1 fusion transcript and leads to the discovery of an EXT1 deletion in a child with multiple osteochondromas

Structural Models for the Dynamic Effects of Loss-of-Function Variants in the Human SIM1 Protein Transcriptional Activation Domain

Variable expressivity of syndromic BMP4-related eye, brain, and digital anomalies: A review of the literature and description of three new cases

Whole exome sequencing of a patient with suspected mitochondrial myopathy reveals novel compound heterozygous variants in RYR1.

deficiency causes a wide tumor spectrum and increases embryonal rhabdomyosarcoma metastasis in zebrafish

point mutations and familial intracranial aneurysms