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List of works by Victor Murcia Pienkowski

<tt>TADeus2</tt>: a web server facilitating the clinical diagnosis by pathogenicity assessment of structural variations disarranging 3D chromatin structure

scientific article published on 21 April 2022

Breakpoint Mapping of Symptomatic Balanced Translocations Links the EPHA6, KLF13 and UBR3 Genes to Novel Disease Phenotype.

scientific article

Developmental delay with hypotrophy associated with homozygous functionally relevant REV3L variant

scientific article published on 20 January 2021

Evidence for HNRNPH1 being another gene for Bain type syndromic mental retardation

article

Mapping of breakpoints in balanced chromosomal translocations by shallow whole-genome sequencing points to , and as novel candidates for genes causing human Mendelian disorders

article

Neurodevelopmental phenotype caused by a de novo PTPN4 single nucleotide variant disrupting protein localization in neuronal dendritic spines

scientific article published on 11 October 2018

Novel COL12A1 variant as a cause of mild familial extracellular matrix-related myopathy

scientific article published on 28 March 2019

Novel calcineurin A (PPP3CA) variant associated with epilepsy, constitutive enzyme activation and downregulation of protein expression

scientific article published on 25 September 2018

Novel de novo mutation affecting two adjacent aminoacids in the EED gene in a patient with Weaver syndrome.

scientific article

Syndromic chorioretinal coloboma associated with heterozygous de novo RARA mutation affecting an amino acid critical for retinoic acid interaction

scientific article published on 06 August 2019

Whole exome sequencing identifies TRIOBP pathogenic variants as a cause of post-lingual bilateral moderate-to-severe sensorineural hearing loss

scientific article published on 2 December 2017

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