Thomas V O Hansen - JoVE Visualize

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European Journal of Human Genetics : EJHG|December 2, 2010

On the origin and diffusion of BRCA1 c.5266dupC (5382insC) in European populationsNancy Hamel, Bing-Jian Feng, Lenka Foretova, et al.

Breast Cancer Research : BCR|January 9, 2024

Male with an apparently normal phenotype carrying a BRCA1 exon 20 duplication in trans to a BRCA1 frameshift variantInes Block, Àngels Mateu-Regué, Thi Tuyet Nhu Do, et al.

Plos Genetics|December 17, 2020

Nationwide germline whole genome sequencing of 198 consecutive pediatric cancer patients reveals a high incidence of cancer prone syndromesAnna Byrjalsen, Thomas V O Hansen, Ulrik K Stoltze, et al.

Acta Neuropsychiatrica|March 9, 2016

Association of the leucine-7 to proline-7 variation in the signal sequence of neuropeptide Y with major depressionPernille Koefoed, David P D Woldbye, Thomas V O Hansen, et al.

American Journal of Human Genetics|October 2, 2024

Large-scale application of ClinGen-InSiGHT APC-specific ACMG/AMP variant classification criteria leads to substantial reduction in VUSXiaoyu Yin, Marcy Richardson, Andreas Laner, et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 6, 2023

Gene-specific ACMG/AMP classification criteria for germline APC variants: Recommendations from the ClinGen InSiGHT Hereditary Colorectal Cancer/Polyposis Variant Curation Expert PanelIsabel Spier, Xiaoyu Yin, Marcy Richardson, et al.

Medrxiv : the Preprint Server for Health Sciences|May 15, 2024

Systematic large-scale application of ClinGen InSiGHT APC -specific ACMG/AMP variant classification criteria substantially alleviates the burden of variants of uncertain significance in ClinVar and LOVD databasesXiaoyu Yin, Marcy Richardson, Andreas Laner, et al.

Breast Cancer Research and Treatment|September 27, 2012

Evaluation of chromosome 6p22 as a breast cancer risk modifier locus in a follow-up study of BRCA2 mutation carriersKristen N Stevens, Xianshu Wang, Zachary Fredericksen, et al.

Nature|February 12, 2010

Ancient human genome sequence of an extinct Palaeo-EskimoMorten Rasmussen, Yingrui Li, Stinus Lindgreen, et al.

Human Mutation|August 18, 2022

Clinical, splicing, and functional analysis to classify BRCA2 exon 3 variants: Application of a points-based ACMG/AMP approachMads Thomassen, Romy L S Mesman, Thomas V O Hansen, et al.

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Showing results (61-70 of 117) with videos related to

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European Journal of Human Genetics : EJHG|December 2, 2010

On the origin and diffusion of BRCA1 c.5266dupC (5382insC) in European populationsNancy Hamel, Bing-Jian Feng, Lenka Foretova, et al.

Breast Cancer Research : BCR|January 9, 2024

Male with an apparently normal phenotype carrying a BRCA1 exon 20 duplication in trans to a BRCA1 frameshift variantInes Block, Àngels Mateu-Regué, Thi Tuyet Nhu Do, et al.

Plos Genetics|December 17, 2020

Nationwide germline whole genome sequencing of 198 consecutive pediatric cancer patients reveals a high incidence of cancer prone syndromesAnna Byrjalsen, Thomas V O Hansen, Ulrik K Stoltze, et al.

Acta Neuropsychiatrica|March 9, 2016

Association of the leucine-7 to proline-7 variation in the signal sequence of neuropeptide Y with major depressionPernille Koefoed, David P D Woldbye, Thomas V O Hansen, et al.

American Journal of Human Genetics|October 2, 2024

Large-scale application of ClinGen-InSiGHT APC-specific ACMG/AMP variant classification criteria leads to substantial reduction in VUSXiaoyu Yin, Marcy Richardson, Andreas Laner, et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 6, 2023

Gene-specific ACMG/AMP classification criteria for germline APC variants: Recommendations from the ClinGen InSiGHT Hereditary Colorectal Cancer/Polyposis Variant Curation Expert PanelIsabel Spier, Xiaoyu Yin, Marcy Richardson, et al.

Medrxiv : the Preprint Server for Health Sciences|May 15, 2024

Systematic large-scale application of ClinGen InSiGHT APC -specific ACMG/AMP variant classification criteria substantially alleviates the burden of variants of uncertain significance in ClinVar and LOVD databasesXiaoyu Yin, Marcy Richardson, Andreas Laner, et al.

Breast Cancer Research and Treatment|September 27, 2012

Evaluation of chromosome 6p22 as a breast cancer risk modifier locus in a follow-up study of BRCA2 mutation carriersKristen N Stevens, Xianshu Wang, Zachary Fredericksen, et al.

Nature|February 12, 2010

Ancient human genome sequence of an extinct Palaeo-EskimoMorten Rasmussen, Yingrui Li, Stinus Lindgreen, et al.

Human Mutation|August 18, 2022

Clinical, splicing, and functional analysis to classify BRCA2 exon 3 variants: Application of a points-based ACMG/AMP approachMads Thomassen, Romy L S Mesman, Thomas V O Hansen, et al.

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