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Prenatal Diagnosis
|
November 6, 2024
Post-Abortem Detection of a Pathogenic Somatic PIK3CA-Variant in an Abdominal Lymphangioma That Is Not Present in Cultured Amniotic Fluid Cells
Cristiana Roggia, Nadja Ballin, Ulrike Faust, et al.
Molecular Genetics & Genomic Medicine
|
September 7, 2021
Detection of mobile elements insertions for routine clinical diagnostics in targeted sequencing data
German Demidov, Joohyun Park, Sorin Armeanu-Ebinger, et al.
Cell Death & Disease
|
March 1, 2026
Evaluation of non-canonical p53 functions in DNA replication and recombination for variant classification
Rebecca Jansche, Benedikt Heitmeir, Ulrike Faust, et al.
Geburtshilfe Und Frauenheilkunde
|
April 24, 2020
Criteria of the German Consortium for Hereditary Breast and Ovarian Cancer for the Classification of Germline Sequence Variants in Risk Genes for Hereditary Breast and Ovarian Cancer
Barbara Wappenschmidt, Jan Hauke, Ulrike Faust, et al.
Molecular Genetics & Genomic Medicine
|
February 10, 2023
Genome sequencing identifies complex structural MLH1 variant in unsolved Lynch syndrome
Dennis Witt, Ulrike Faust, Gertrud Strobl-Wildemann, et al.
Cell Death & Disease
|
May 17, 2023
ABRAXAS1 orchestrates BRCA1 activities to counter genome destabilizing repair pathways-lessons from breast cancer patients
Juliane Sachsenweger, Rebecca Jansche, Tatjana Merk, et al.
Frontiers in Neurology
|
January 11, 2020
Single Molecule Molecular Inversion Probes for High Throughput Germline Screenings in Dystonia
Michaela Pogoda, Franz-Joachim Hilke, Ebba Lohmann, et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research
|
March 19, 2025
Reclassification of ATM Missense Variants of Uncertain Significance by Integrating Results from Systematic Functional Assays into an ACMG Points-Based Framework
Helmut Hanenberg, Fan Zhang, Nikita Malev, et al.
BMC Medical Genetics
|
August 17, 2018
First case report of malignant peritoneal mesothelioma and oral verrucous carcinoma in a patient with a germline PTEN mutation: a combination of extremely rare diseases with probable further implications
Markus W Löffler, Julia Steinhilber, Franz J Hilke, et al.
Lung Cancer (Amsterdam, Netherlands)
|
October 23, 2025
Distinct genomic profile of pediatric lung carcinoma: High frequency of ALK fusions and TP53 mutations compared to adults
Michael Abele, Anton Karelin, Michaela Pogoda, et al.
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Search research articles
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Showing results (1-10 of 24) with videos related to
Sort By:
Page
of 3
Prenatal Diagnosis
|
November 6, 2024
Post-Abortem Detection of a Pathogenic Somatic PIK3CA-Variant in an Abdominal Lymphangioma That Is Not Present in Cultured Amniotic Fluid Cells
Cristiana Roggia, Nadja Ballin, Ulrike Faust, et al.
Molecular Genetics & Genomic Medicine
|
September 7, 2021
Detection of mobile elements insertions for routine clinical diagnostics in targeted sequencing data
German Demidov, Joohyun Park, Sorin Armeanu-Ebinger, et al.
Cell Death & Disease
|
March 1, 2026
Evaluation of non-canonical p53 functions in DNA replication and recombination for variant classification
Rebecca Jansche, Benedikt Heitmeir, Ulrike Faust, et al.
Geburtshilfe Und Frauenheilkunde
|
April 24, 2020
Criteria of the German Consortium for Hereditary Breast and Ovarian Cancer for the Classification of Germline Sequence Variants in Risk Genes for Hereditary Breast and Ovarian Cancer
Barbara Wappenschmidt, Jan Hauke, Ulrike Faust, et al.
Molecular Genetics & Genomic Medicine
|
February 10, 2023
Genome sequencing identifies complex structural MLH1 variant in unsolved Lynch syndrome
Dennis Witt, Ulrike Faust, Gertrud Strobl-Wildemann, et al.
Cell Death & Disease
|
May 17, 2023
ABRAXAS1 orchestrates BRCA1 activities to counter genome destabilizing repair pathways-lessons from breast cancer patients
Juliane Sachsenweger, Rebecca Jansche, Tatjana Merk, et al.
Frontiers in Neurology
|
January 11, 2020
Single Molecule Molecular Inversion Probes for High Throughput Germline Screenings in Dystonia
Michaela Pogoda, Franz-Joachim Hilke, Ebba Lohmann, et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research
|
March 19, 2025
Reclassification of ATM Missense Variants of Uncertain Significance by Integrating Results from Systematic Functional Assays into an ACMG Points-Based Framework
Helmut Hanenberg, Fan Zhang, Nikita Malev, et al.
BMC Medical Genetics
|
August 17, 2018
First case report of malignant peritoneal mesothelioma and oral verrucous carcinoma in a patient with a germline PTEN mutation: a combination of extremely rare diseases with probable further implications
Markus W Löffler, Julia Steinhilber, Franz J Hilke, et al.
Lung Cancer (Amsterdam, Netherlands)
|
October 23, 2025
Distinct genomic profile of pediatric lung carcinoma: High frequency of ALK fusions and TP53 mutations compared to adults
Michael Abele, Anton Karelin, Michaela Pogoda, et al.
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of 3