Results
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21.
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Using High-Resolution Variant Frequencies Empowers Clinical Genome Interpretation and Enables Investigation of Genetic Architecture. [electronic resource] by
- Whiffin, Nicola
- Roberts, Angharad M
- Minikel, Eric
- Zappala, Zach
- Walsh, Roddy
- O'Donnell-Luria, Anne H
- Karczewski, Konrad J
- Harrison, Steven M
- Thomson, Kate L
- Sage, Helen
- Ing, Alexander Y
- Barton, Paul J R
- Funke, Birgit
- Cook, Stuart A
- MacArthur, Daniel G
- Ware, James S
Producer: 20191031
In:
American journal of human genetics vol. 104
Availability: No items available.
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22.
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ClinGen Pathogenicity Calculator: a configurable system for assessing pathogenicity of genetic variants. [electronic resource] by
- Patel, Ronak Y
- Shah, Neethu
- Jackson, Andrew R
- Ghosh, Rajarshi
- Pawliczek, Piotr
- Paithankar, Sameer
- Baker, Aaron
- Riehle, Kevin
- Chen, Hailin
- Milosavljevic, Sofia
- Bizon, Chris
- Rynearson, Shawn
- Nelson, Tristan
- Jarvik, Gail P
- Rehm, Heidi L
- Harrison, Steven M
- Azzariti, Danielle
- Powell, Bradford
- Babb, Larry
- Plon, Sharon E
- Milosavljevic, Aleksandar
Producer: 20170731
In:
Genome medicine vol. 9
Availability: No items available.
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23.
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Evaluating the Clinical Validity of Hypertrophic Cardiomyopathy Genes. [electronic resource] by
- Ingles, Jodie
- Goldstein, Jennifer
- Thaxton, Courtney
- Caleshu, Colleen
- Corty, Edward W
- Crowley, Stephanie B
- Dougherty, Kristen
- Harrison, Steven M
- McGlaughon, Jennifer
- Milko, Laura V
- Morales, Ana
- Seifert, Bryce A
- Strande, Natasha
- Thomson, Kate
- Peter van Tintelen, J
- Wallace, Kathleen
- Walsh, Roddy
- Wells, Quinn
- Whiffin, Nicola
- Witkowski, Leora
- Semsarian, Christopher
- Ware, James S
- Hershberger, Ray E
- Funke, Birgit
Producer: 20200406
In:
Circulation. Genomic and precision medicine vol. 12
Availability: No items available.
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24.
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ClinGen Variant Curation Expert Panel experiences and standardized processes for disease and gene-level specification of the ACMG/AMP guidelines for sequence variant interpretation. [electronic resource] by
- Rivera-Muñoz, Edgar A
- Milko, Laura V
- Harrison, Steven M
- Azzariti, Danielle R
- Kurtz, C Lisa
- Lee, Kristy
- Mester, Jessica L
- Weaver, Meredith A
- Currey, Erin
- Craigen, William
- Eng, Charis
- Funke, Birgit
- Hegde, Madhuri
- Hershberger, Ray E
- Mao, Rong
- Steiner, Robert D
- Vincent, Lisa M
- Martin, Christa L
- Plon, Sharon E
- Ramos, Erin
- Rehm, Heidi L
- Watson, Michael
- Berg, Jonathan S
Producer: 20190820
In:
Human mutation vol. 39
Availability: No items available.
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25.
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Adaptation and validation of the ACMG/AMP variant classification framework for MYH7-associated inherited cardiomyopathies: recommendations by ClinGen's Inherited Cardiomyopathy Expert Panel. [electronic resource] by
- Kelly, Melissa A
- Caleshu, Colleen
- Morales, Ana
- Buchan, Jillian
- Wolf, Zena
- Harrison, Steven M
- Cook, Stuart
- Dillon, Mitchell W
- Garcia, John
- Haverfield, Eden
- Jongbloed, Jan D H
- Macaya, Daniela
- Manrai, Arjun
- Orland, Kate
- Richard, Gabriele
- Spoonamore, Katherine
- Thomas, Matthew
- Thomson, Kate
- Vincent, Lisa M
- Walsh, Roddy
- Watkins, Hugh
- Whiffin, Nicola
- Ingles, Jodie
- van Tintelen, J Peter
- Semsarian, Christopher
- Ware, James S
- Hershberger, Ray
- Funke, Birgit
Producer: 20180926
In:
Genetics in medicine : official journal of the American College of Medical Genetics vol. 20
Availability: No items available.
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26.
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Scaling resolution of variant classification differences in ClinVar between 41 clinical laboratories through an outlier approach. [electronic resource] by
- Harrison, Steven M
- Dolinksy, Jill S
- Chen, Wenjie
- Collins, Christin D
- Das, Soma
- Deignan, Joshua L
- Garber, Kathryn B
- Garcia, John
- Jarinova, Olga
- Knight Johnson, Amy E
- Koskenvuo, Juha W
- Lee, Hane
- Mao, Rong
- Mar-Heyming, Rebecca
- McFaddin, Andrew S
- Moyer, Krista
- Nagan, Narasimhan
- Rentas, Stefan
- Santani, Avni B
- Seppälä, Eija H
- Shirts, Brian H
- Tidwell, Timothy
- Topper, Scott
- Vincent, Lisa M
- Vinette, Kathy
- Rehm, Heidi L
Producer: 20190820
In:
Human mutation vol. 39
Availability: No items available.
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