Publications by authors named "Simone Heidemann"

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First experiences with the introduction of genetic counselors in human genetic services in the German-speaking countries.
Simone Heidemann, Johannes Zschocke, Gunda Schwaninger

J Genet Couns· June 2025

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The current state of the genetic counselor profession in the German-speaking countries.
Gunda Schwaninger, Simone Heidemann, Sabine Rudnik-Schöneborn, Johannes Zschocke

Genet Med Open· May 2024

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Prospects and challenges for the genetic counsellor profession in the German-speaking countries: report of a workshop.
Gunda Schwaninger, Simone Heidemann, Wera Hofmann, Tamara Maurer, Katharina Mayerhanser

Med Genet· April 2021

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Reply to letter by Dr. G. Corso.
Frederik Stuebs, Simone Heidemann, Almuth Caliebe, Christoph Mundhenke, Norbert Arnold

Arch Gynecol Obstet· April 2018

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CDH1 mutation screen in a BRCA1/2-negative familial breast-/ovarian cancer cohort.
Frederik Stuebs, Simone Heidemann, Almuth Caliebe, Christoph Mundhenke, Norbert Arnold

Arch Gynecol Obstet· January 2018

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Analysis of SYCP3 encoding synaptonemal complex protein 3 in human aneuploidies.
Andreas Roos, Constantin S von Kaisenberg, Thomas Eggermann, Gesa Schwanitz, Christine Löffler, Simone Heidemann

Arch Gynecol Obstet· November 2013

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DNA-methylation profiling of fetal tissues reveals marked epigenetic differences between chorionic and amniotic samples.
Christel Eckmann-Scholz, Susanne Bens, Julia Kolarova, Sina Schneppenheim, Almuth Caliebe, Simone Heidemann

PLoS One· December 2012

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Double heterozygosity for mutations in BRCA1 and BRCA2 in German breast cancer patients: implications on test strategies and clinical management.
Simone Heidemann, Christine Fischer, Christoph Engel, Barbara Fischer, Lana Harder

Breast Cancer Res Treat· August 2012

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Ovarian cancer susceptibility alleles and risk of ovarian cancer in BRCA1 and BRCA2 mutation carriers.
Susan J Ramus, Antonis C Antoniou, Karoline B Kuchenbaecker, Penny Soucy, Jonathan Beesley, Simone Heidemann

Hum Mutat· April 2012

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Common variants at the 19p13.1 and ZNF365 loci are associated with ER subtypes of breast cancer and ovarian cancer risk in BRCA1 and BRCA2 mutation carriers.
Fergus J Couch, Mia M Gaudet, Antonis C Antoniou, Susan J Ramus, Karoline B Kuchenbaecker, Simone Heidemann

Cancer Epidemiol Biomarkers Prev· April 2012

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Common variants at 12p11, 12q24, 9p21, 9q31.2 and in ZNF365 are associated with breast cancer risk for BRCA1 and/or BRCA2 mutation carriers.
Antonis C Antoniou, Karoline B Kuchenbaecker, Penny Soucy, Jonathan Beesley, Xiaoqing Chen, Simone Heidemann

Breast Cancer Res· February 2012

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Chromosomal mosaicisms in prenatal diagnosis: correlation with first trimester screening and clinical outcome.
Christel Eckmann-Scholz, Julia Mallek, Constantin S von Kaisenberg, Norbert K Arnold, Walter Jonat, Simone Heidemann

J Perinat Med· January 2012

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Isolated trisomy 7q21.2-31.31 resulting from a complex familial rearrangement involving chromosomes 7, 9 and 10.
Jörg Weimer, Simone Heidemann, Constantin S von Kaisenberg, Werner Grote, Norbert Arnold

Mol Cytogenet· December 2011

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Pyrosequencing-based DNA methylation profiling of Fanconi anemia/BRCA pathway genes in laryngeal squamous cell carcinoma.
Marcin Szaumkessel, Julia Richter, Maciej Giefing, Malgorzata Jarmuz, Katarzyna Kiwerska, Simone Heidemann

Int J Oncol· August 2011

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Common breast cancer susceptibility alleles and the risk of breast cancer for BRCA1 and BRCA2 mutation carriers: implications for risk prediction.
Antonis C Antoniou, Jonathan Beesley, Lesley McGuffog, Olga M Sinilnikova, Sue Healey, Simone Heidemann

Cancer Res· December 2010

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A duplication in 1q21.3 in a family with early onset and childhood absence epilepsy.
Hiltrud Muhle, Ines Steinich, Sarah von Spiczak, Andre Franke, Yvonne Weber, Simone Heidemann

Epilepsia· December 2010

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Conflicting results of prenatal FISH with different probes for Down's Syndrome critical regions associated with mosaicism for a de novo del(21)(q22) characterised by molecular karyotyping: Case report.
Christel Eckmann-Scholz, Stefan Gesk, Inga Nagel, Andrea Haake, Susanne Bens, Simone Heidemann

Mol Cytogenet· September 2010

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The variant inv(2)(p11.2q13) is a genuinely recurrent rearrangement but displays some breakpoint heterogeneity.
Ina Fickelscher, Thomas Liehr, Kathryn Watts, Victoria Bryant, John C K Barber, Simone Heidemann

Am J Hum Genet· October 2007

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