Jasmin Lisfeld

Universität Hamburg — Germany

Biochemistry, Genetics and Molecular Biology · Life Sciences

15h-index1.2kcitations32works6.02yr avg
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Research Topics

Genomics and Rare Diseases(11), Lymphoma Diagnosis and Treatment(10), Genomic variations and chromosomal abnormalities(7), Genetics and Neurodevelopmental Disorders(5), Cancer Genomics and Diagnostics(4)

Publications31 total

Evaluating genome sequencing strategies: trio, singleton, and standard testing in rare disease diagnosis
Genome Medicine·2025· 3 citedOpen Access
Author Correction: Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings
Nature Genetics·2025Open Access
Successful Pregnancy Management of a Woman With Severe Methylmalonic Acidemia
JIMD Reports·2025Open Access
AUTS2-related syndrome: Insights from a large European cohort
Genetics in Medicine·2025· 3 citedOpen Access
Evaluating Genome Sequencing Strategies: Trio, Singleton, and Standard Testing in Rare Disease Diagnosis
2024· 2 citedOpen Access
Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings
Nature Genetics·2024· 34 citedOpen Access
A combination of long- and short-read genomics reveals frequent p-arm breakpoints within chromosome 21 complex genomic rearrangements
Genetics in Medicine Open·2024· 5 citedOpen Access
INPP4A-Related Genetic and Phenotypic Spectrum and Functional Relevance of Subcellular Targeting of INPP4A Isoforms
Neuropediatrics·2023
Next-generation phenotyping integrated in a national framework for patients with ultra-rare disorders improves genetic diagnostics and yields new molecular findings
2023· 15 citedOpen Access
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
Neurogenetics·2023· 3 cited
The neurodevelopmental and facial phenotype in individuals with a TRIP12 variant
European Journal of Human Genetics·2023· 18 citedOpen Access
INPP4A-related genetic and phenotypic spectrum and functional relevance of subcellular targeting of INPP4A isoforms
Neurogenetics·2023· 5 cited
The genomic and transcriptional landscape of primary central nervous system lymphoma
Nature Communications·2022· 133 citedOpen Access
Autosomal dominantly inherited myopathy likely caused by the <i>TNNT1</i> variant p.(Asp65Ala)
Human Mutation·2022· 3 cited
Prevalence and clinical prediction of mitochondrial disorders in a large neuropediatric cohort
Clinical Genetics·2021· 12 citedOpen Access
Author response for "Prevalence and clinical prediction of mitochondrial disorders in a large neuropediatric cohort"
2021Open Access
The acrocentric part of der(Y)t(Y;acro)(q12;p1?2) contains D15Z1 sequences in the majority of cases
Human Genome Variation·2021· 5 citedOpen Access
Supplementary Material for: Whole-Exome Sequencing in Critically Ill Neonates and Infants: Diagnostic Yield and Predictability of Monogenic Diagnosis
Figshare·2021Open Access
Whole-Exome Sequencing in Critically Ill Neonates and Infants: Diagnostic Yield and Predictability of Monogenic Diagnosis
Neonatology·2021· 38 cited
Genomic and transcriptomic changes complement each other in the pathogenesis of sporadic Burkitt lymphoma
Nature Communications·2019· 151 citedOpen Access
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Frequent Co-authors

Birgit Burkhardt(11), Wolfram Klapper(11), Theresia Herget(11), Monika Szczepanowski(8), Roland Eils(8), Maja Hempel(8), Inga Nagel(7), Andrea Haake(7), Philip Rosenstiel(7), Siegfried Haas(7), Christian Kubisch(7), Alexander Claviez(6), Michael Hummel(6), Ralf Küppers(6), Lorenz Trümper(6), Reiner Siebert(6), Martin‐Leo Hansmann(6), Andreas Rosenwald(6), German Ott(6), Fanny Kortüm(6)