Florentine Scharf

Munich, BY, Germany

Last Updated: 09/26/2026

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Found 13 publications

A series of reviews in familial cancer: genetic cancer risk in context variants of uncertain significance in MMR genes: which procedures should be followed?

A series of reviews in familial cancer: genetic cancer risk in context variants of uncertain significance in MMR genes: which procedures should be followed?

Journal: Familial cancer

Published: November 25, 2024

Optical Genome Mapping as a Potential Routine Clinical Diagnostic Method.

Optical Genome Mapping as a Potential Routine Clinical Diagnostic Method.

Journal: Genes

Published: January 29, 2024

Closing the Gap - Detection of 5q-Spinal Muscular Atrophy by Short-Read Next-Generation Sequencing and Unexpected Results in a Diagnostic Patient Cohort.

Closing the Gap - Detection of 5q-Spinal Muscular Atrophy by Short-Read Next-Generation Sequencing and Unexpected Results in a Diagnostic Patient Cohort.

Journal: Journal of neuromuscular diseases

Published: July 10, 2023

Reply: An epigenetic basis for genetic anticipation in facioscapulohumeral muscular dystrophy type 1.

Reply: An epigenetic basis for genetic anticipation in facioscapulohumeral muscular dystrophy type 1.

Journal: Brain : a journal of neurology

Published: June 05, 2023

Transcript capture and ultradeep long-read RNA sequencing (CAPLRseq) to diagnose HNPCC/Lynch syndrome.

Transcript capture and ultradeep long-read RNA sequencing (CAPLRseq) to diagnose HNPCC/Lynch syndrome.

Journal: Journal of medical genetics

Published: September 08, 2022

Highly sensitive liquid biopsy Duplex sequencing complements tissue biopsy to enhance detection of clinically relevant genetic variants.

Highly sensitive liquid biopsy Duplex sequencing complements tissue biopsy to enhance detection of clinically relevant genetic variants.

Journal: Frontiers in oncology

Published: August 08, 2022

Somatic copy number alteration and fragmentation analysis in circulating tumor DNA for cancer screening and treatment monitoring in colorectal cancer patients.

Somatic copy number alteration and fragmentation analysis in circulating tumor DNA for cancer screening and treatment monitoring in colorectal cancer patients.

Journal: Journal of hematology & oncology

Published: May 20, 2022

Methylation of the 4q35 D4Z4 repeat defines disease status in facioscapulohumeral muscular dystrophy.

Methylation of the 4q35 D4Z4 repeat defines disease status in facioscapulohumeral muscular dystrophy.

Journal: Brain : a journal of neurology

Published: May 13, 2022

Parallel in-depth analysis of repeat expansions in ataxia patients by long-read sequencing.

Parallel in-depth analysis of repeat expansions in ataxia patients by long-read sequencing.

Journal: Brain : a journal of neurology

Published: March 31, 2022

Constitutional chromothripsis of the APC locus as a cause of genetic predisposition to colon cancer.

Constitutional chromothripsis of the APC locus as a cause of genetic predisposition to colon cancer.

Journal: Journal of medical genetics

Published: September 01, 2021

HPO-driven virtual gene panel: a new efficient approach in molecular autopsy of sudden unexplained death.

HPO-driven virtual gene panel: a new efficient approach in molecular autopsy of sudden unexplained death.

Journal: BMC medical genomics

Published: November 25, 2020

Critical assessment of secondary findings in genes linked to primary arrhythmia syndromes.

Critical assessment of secondary findings in genes linked to primary arrhythmia syndromes.

Journal: Human mutation

Published: August 30, 2019

Showing 1-12 of 13

Last Updated: 09/26/2026