about
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.Whole exome sequencing of a patient with suspected mitochondrial myopathy reveals novel compound heterozygous variants in RYR1.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.BARD1 nonsense variant c.1921C>T in a patient with recurrent breast cancer.A novel de novo frameshift deletion in EHMT1 in a patient with Kleefstra Syndrome results in decreased H3K9 dimethylationPharmacogenomic findings from clinical whole exome sequencing of diagnostic odyssey patients.Expanded phenotype in a patient with spastic paraplegia 7.A novel splice site variant in CYP11A1 in trans with the p.E314K variant in a male patient with congenital adrenal insufficiency.Co-occurrence of a novel PDGFRB variant and likely pathogenic variant in CASR in an individual with extensive intracranial calcifications and hypocalcaemia.point mutations and familial intracranial aneurysmsdeficiency causes a wide tumor spectrum and increases embryonal rhabdomyosarcoma metastasis in zebrafishRNA-Seq detects a SAMD12-EXT1 fusion transcript and leads to the discovery of an EXT1 deletion in a child with multiple osteochondromasCryptic and atypical KMT2A-USP2 and KMT2A-USP8 rearrangements identified by mate pair sequencing in infant and childhood leukemiaCharacterization of three ciliopathy pedigrees expands the phenotype associated with biallelic C2CD3 variantsProtein modeling and clinical description of a novel in-frame GLB1 deletion causing GM1 gangliosidosis type IIDe novo DDX3X missense variants in males appear viable and contribute to syndromic intellectual disabilityRNA sequencing identifies a novel USP9X-USP6 promoter swap gene fusion in a primary aneurysmal bone cystVariable expressivity of syndromic BMP4-related eye, brain, and digital anomalies: A review of the literature and description of three new casesFurther delineation of the phenotypic spectrum associated with hemizygous loss-of-function variants in NONOCTCF variants in 39 individuals with a variable neurodevelopmental disorder broaden the mutational and clinical spectrumPIK3CA mutations in lipomatosis of nerve with or without nerve territory overgrowthExtension of the mutational and clinical spectrum of SOX2 related disorders: Description of six new cases and a novel association with suprasellar teratomaA second cohort of CHD3 patients expands the molecular mechanisms known to cause Snijders Blok-Campeau syndromeExpanding the clinical and phenotypic heterogeneity associated with biallelic variants in ACO2
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description
investigador
@es
researcher
@en
wetenschapper
@nl
name
Patrick R Blackburn
@en
Patrick R Blackburn
@nl
type
label
Patrick R Blackburn
@en
Patrick R Blackburn
@nl
prefLabel
Patrick R Blackburn
@en
Patrick R Blackburn
@nl
P31
P496
0000-0003-0658-1275