1. Adapting crowdsourced clinical cancer curation in CIViC to the ClinGen minimum variant level data community‐driven standards. Issue 11 (11th October 2018) Authors: Danos, Arpad M.; Ritter, Deborah I.; Wagner, Alex H.; Krysiak, Kilannin; Sonkin, Dmitriy; Micheel, Christine; McCoy, Matthew; Rao, Shruti; Raca, Gordana; Boca, Simina M.; Roy, Angshumoy; Barnell, Erica K.; McMichael, Joshua F.; Kiwala, Susanna; Coffman, Adam C.; Kujan, Lynzey; Kulkarni, Shashikan... Other Names: Rehm Heidi L. guestEditor.; Berg Jonathan S. guestEditor.; Plon Sharon E. guestEditor. Journal: Human mutation Issue: Volume 39:Issue 11(2018) Page Start: 1721 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Assessing the gene–disease association of 19 genes with the RASopathies using the ClinGen gene curation framework. Issue 11 (11th October 2018) Authors: Grant, Andrew R.; Cushman, Brandon J.; Cavé, Hélène; Dillon, Mitchell W.; Gelb, Bruce D.; Gripp, Karen W.; Lee, Jennifer A.; Mason‐Suares, Heather; Rauen, Katherine A.; Tartaglia, Marco; Vincent, Lisa M.; Zenker, Martin Other Names: Rehm Heidi L. guestEditor.; Berg Jonathan S. guestEditor.; Plon Sharon E. guestEditor. Journal: Human mutation Issue: Volume 39:Issue 11(2018) Page Start: 1485 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. ClinGen advancing genomic data‐sharing standards as a GA4GH driver project. Issue 11 (11th October 2018) Authors: Dolman, Lena; Page, Angela; Babb, Lawrence; Freimuth, Robert R.; Arachchi, Harindra; Bizon, Chris; Brush, Matthew; Fiume, Marc; Haendel, Melissa; Hansen, David P.; Milosavljevic, Aleksandar; Patel, Ronak Y.; Pawliczek, Piotr; Yates, Andrew D.; Rehm, Heidi L. Other Names: Rehm Heidi L. guestEditor.; Berg Jonathan S. guestEditor.; Plon Sharon E. guestEditor. Journal: Human mutation Issue: Volume 39:Issue 11(2018) Page Start: 1686 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. ClinGen Allele Registry links information about genetic variants. Issue 11 (11th October 2018) Authors: Pawliczek, Piotr; Patel, Ronak Y.; Ashmore, Lillian R.; Jackson, Andrew R.; Bizon, Chris; Nelson, Tristan; Powell, Bradford; Freimuth, Robert R.; Strande, Natasha; Shah, Neethu; Paithankar, Sameer; Wright, Matt W.; Dwight, Selina; Zhen, Jimmy; Landrum, Melissa; McGarvey, Peter; Babb, Larry; Plon,... Other Names: Rehm Heidi L. guestEditor.; Berg Jonathan S. guestEditor.; Plon Sharon E. guestEditor. Journal: Human mutation Issue: Volume 39:Issue 11(2018) Page Start: 1690 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. ClinGen and ClinVar – Enabling Genomics in Precision Medicine. Issue 11 (11th October 2018) Authors: Rehm, Heidi L.; Berg, Jonathan S.; Plon, Sharon E. Other Names: Rehm Heidi L. guestEditor.; Berg Jonathan S. guestEditor.; Plon Sharon E. guestEditor. Journal: Human mutation Issue: Volume 39:Issue 11(2018) Page Start: 1473 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. ClinGen Variant Curation Expert Panel experiences and standardized processes for disease and gene‐level specification of the ACMG/AMP guidelines for sequence variant interpretation. Issue 11 (11th October 2018) Authors: 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 ... Other Names: Rehm Heidi L. guestEditor.; Berg Jonathan S. guestEditor.; Plon Sharon E. guestEditor. Journal: Human mutation Issue: Volume 39:Issue 11(2018) Page Start: 1614 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. ClinGen's GenomeConnect registry enables patient‐centered data sharing. Issue 11 (11th October 2018) Authors: Savatt, Juliann M.; Azzariti, Danielle R.; Faucett, W. Andrew; Harrison, Steven; Hart, Jennifer; Kattman, Brandi; Landrum, Melissa J.; Ledbetter, David H.; Miller, Vanessa Rangel; Palen, Emily; Rehm, Heidi L.; Rhode, Jud; Turner, Stefanie; Vidal, Jo Anne; Wain, Karen E.; Riggs, Erin Rooney; Marti... Other Names: Rehm Heidi L. guestEditor.; Berg Jonathan S. guestEditor.; Plon Sharon E. guestEditor. Journal: Human mutation Issue: Volume 39:Issue 11(2018) Page Start: 1668 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. ClinVar at five years: Delivering on the promise. Issue 11 (11th October 2018) Authors: Landrum, Melissa J.; Kattman, Brandi L. Other Names: Rehm Heidi L. guestEditor.; Berg Jonathan S. guestEditor.; Plon Sharon E. guestEditor. Journal: Human mutation Issue: Volume 39:Issue 11(2018) Page Start: 1623 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. ClinVar database of global familial hypercholesterolemia‐associated DNA variants. Issue 11 (11th October 2018) Authors: Iacocca, Michael A.; Chora, Joana R.; Carrié, Alain; Freiberger, Tomáš; Leigh, Sarah E.; Defesche, Joep C.; Kurtz, C. Lisa; DiStefano, Marina T.; Santos, Raul D.; Humphries, Steve E.; Mata, Pedro; Jannes, Cinthia E.; Hooper, Amanda J.; Wilemon, Katherine A.; Benlian, Pascale; O'Connor, Robert; Ga... Other Names: Rehm Heidi L. guestEditor.; Berg Jonathan S. guestEditor.; Plon Sharon E. guestEditor. Journal: Human mutation Issue: Volume 39:Issue 11(2018) Page Start: 1631 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Copy number variant discrepancy resolution using the ClinGen dosage sensitivity map results in updated clinical interpretations in ClinVar. Issue 11 (11th October 2018) Authors: Riggs, Erin R.; Nelson, Tristan; Merz, Andrew; Ackley, Todd; Bunke, Brian; Collins, Christin D.; Collinson, Morag N.; Fan, Yao‐Shan; Goodenberger, McKinsey L.; Golden, Denae M.; Haglund‐Hazy, Linda; Krgovic, Danijela; Lamb, Allen N.; Lewis, Zoe; Li, Guang; Liu, Yajuan; Meck, Jeanne; Neufeld‐Kaise... Other Names: Rehm Heidi L. guestEditor.; Berg Jonathan S. guestEditor.; Plon Sharon E. guestEditor. Journal: Human mutation Issue: Volume 39:Issue 11(2018) Page Start: 1650 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗