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Exome sequencing of fetal anomaly syndromes: novel phenotype-genotype discoveries

European journal of human genetics : EJHG, 2019-05, Vol.27 (5), p.730-737

2019

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Exome sequencing of osteosarcoma reveals mutation signatures reminiscent of BRCA deficiency

Nature communications, 2015-12, Vol.6 (1), p.8940-8940, Article 8940

2015

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How the "control-fate continuum" helps explain the genetic testing decision-making process: a grounded theory study

European journal of human genetics : EJHG, 2020-08, Vol.28 (8), p.1010-1019

2020

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Germline de novo mutations in families with Mendelian cancer syndromes caused by defects in DNA repair

Nature communications, 2023-06, Vol.14 (1), p.3636-3636, Article 3636

2023

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Author Correction: Germline de novo mutations in families with Mendelian cancer syndromes caused by defects in DNA repair

Nature communications, 2023-06, Vol.14 (1), p.3836-3836, Article 3836

2023

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Hereditary Colorectal Cancer: Clinics, Diagnostics and Management

Therapeutische Umschau, 2018, Vol.75 (10), p.601

Heinimann, Karl

2018

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Combined analysis of specific KRAS mutation, BRAF and microsatellite instability identifies prognostic subgroups of sporadic and hereditary colorectal cancer

International journal of cancer, 2010-12, Vol.127 (11), p.2569-2575

2010

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Lack of association between screening interval and cancer stage in Lynch syndrome may be accounted for by over-diagnosis; a prospective Lynch syndrome database report

Hereditary cancer in clinical practice, 2019-02, Vol.17 (1), p.8-8, Article 8

2019

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Quantification of fat infiltration in oculopharyngeal muscular dystrophy: Comparison of three MR imaging methods

Journal of magnetic resonance imaging, 2011-01, Vol.33 (1), p.203-210

2011

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Dominantly inherited micro-satellite instable cancer - the four Lynch syndromes - an EHTG, PLSD position statement

Hereditary cancer in clinical practice, 2023-10, Vol.21 (1), p.19-19, Article 19

2023

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Convergent Evolution of Copy Number Alterations in Multi-Centric Hepatocellular Carcinoma

Scientific reports, 2019-03, Vol.9 (1), p.4611-4611, Article 4611

2019

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Somatic alterations in juvenile polyps from BMPR1A and SMAD4 mutation carriers

Genes chromosomes & cancer, 2015-09, Vol.54 (9), p.575-582

2015

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Immunohistochemical Analysis Reveals High Frequency of PMS2 Defects in Colorectal Cancer

Gastroenterology (New York, N.Y. 1943), 2005-05, Vol.128 (5), p.1160-1171

2005

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Systematic immunohistochemical screening for Lynch syndrome in colorectal cancer: a single centre experience of 486 patients

Swiss medical weekly, 2016, Vol.146, p.w14315

2016

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Relatives from Hereditary Breast and Ovarian Cancer and Lynch Syndrome Families Forgoing Genetic Testing: Findings from the Swiss CASCADE Cohort

Journal of personalized medicine, 2022-10, Vol.12 (10), p.1740

2022

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A novel missense mutation in the high mobility group domain of SRY drastically reduces its DNA-binding capacity and causes paternally transmitted 46,XY complete gonadal dysgenesis

Fertility and sterility, 2011-10, Vol.96 (4), p.851-855.e1

2011

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Toward a molecular classification of colorectal cancer: the role of microsatellite instability status

Frontiers in oncology, 2013-10, Vol.3, p.272-272

Heinimann, Karl

2013

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Risk-Reducing Gynecological Surgery in Lynch Syndrome: Results of an International Survey from the Prospective Lynch Syndrome Database

Journal of clinical medicine, 2020-07, Vol.9 (7), p.2290

2020

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Exome sequencing of fetal anomaly syndromes: novel phenotype-genotype discoveries

Revised guidelines for the clinical management of Lynch syndrome (HNPCC): recommendations by a group of European experts

Exome sequencing of osteosarcoma reveals mutation signatures reminiscent of BRCA deficiency

Disease expression in juvenile polyposis syndrome: a retrospective survey on a cohort of 221 European patients and comparison with a literature-derived cohort of 473 SMAD4/BMPR1A pathogenic variant carriers

How the "control-fate continuum" helps explain the genetic testing decision-making process: a grounded theory study

Germline de novo mutations in families with Mendelian cancer syndromes caused by defects in DNA repair

Author Correction: Germline de novo mutations in families with Mendelian cancer syndromes caused by defects in DNA repair

Common genetic variants at the CRAC1 ( HMPS ) locus on chromosome 15q13.3 influence colorectal cancer risk

The evolutionary landscape of colorectal tumorigenesis

Hereditary Colorectal Cancer: Clinics, Diagnostics and Management

Combined analysis of specific KRAS mutation, BRAF and microsatellite instability identifies prognostic subgroups of sporadic and hereditary colorectal cancer

Lack of association between screening interval and cancer stage in Lynch syndrome may be accounted for by over-diagnosis; a prospective Lynch syndrome database report

Quantification of fat infiltration in oculopharyngeal muscular dystrophy: Comparison of three MR imaging methods

Dominantly inherited micro-satellite instable cancer - the four Lynch syndromes - an EHTG, PLSD position statement

Convergent Evolution of Copy Number Alterations in Multi-Centric Hepatocellular Carcinoma

Somatic alterations in juvenile polyps from BMPR1A and SMAD4 mutation carriers

Intention to Inform Relatives, Rates of Cascade Testing, and Preference for Patient-Mediated Communication in Families Concerned with Hereditary Breast and Ovarian Cancer and Lynch Syndrome: The Swiss CASCADE Cohort

Acceptability and Usability of the Family Gene Toolkit for Swiss and Korean Families Harboring BRCA1/BRAC2 Pathogenic Variants: A Web-Based Platform for Cascade Genetic Testing

Genetic Literacy and Communication of Genetic Information in Families Concerned with Hereditary Breast and Ovarian Cancer: A Cross-Study Comparison in Two Countries and within a Timeframe of More Than 10 Years

Immunohistochemical Analysis Reveals High Frequency of PMS2 Defects in Colorectal Cancer

Systematic immunohistochemical screening for Lynch syndrome in colorectal cancer: a single centre experience of 486 patients

Relatives from Hereditary Breast and Ovarian Cancer and Lynch Syndrome Families Forgoing Genetic Testing: Findings from the Swiss CASCADE Cohort

A novel missense mutation in the high mobility group domain of SRY drastically reduces its DNA-binding capacity and causes paternally transmitted 46,XY complete gonadal dysgenesis

Toward a molecular classification of colorectal cancer: the role of microsatellite instability status

Risk-Reducing Gynecological Surgery in Lynch Syndrome: Results of an International Survey from the Prospective Lynch Syndrome Database

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