Research ExplorerScientific StaffJasmin Lisfeld

Dr.med. ID: 5526733

Jasmin Lisfeld

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Affiliations

Publications

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

Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

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

Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

The neurodevelopmental and facial phenotype in individuals with a TRIP12 variant

Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

Autosomal dominantly inherited myopathy likely caused by the TNNT1 variant p.(Asp65Ala)

Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

Prevalence and clinical prediction of mitochondrial disorders in a large neuropediatric cohort

Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

The acrocentric part of der(Y)t(Y;acro)(q12;p1?2) contains D15Z1 sequences in the majority of cases

Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

Whole-Exome Sequencing in Critically Ill Neonates and Infants: Diagnostic Yield and Predictability of Monogenic Diagnosis

Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

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