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Author/Creator Martin, Christa L.

2. Clinical Outcomes of a Genomic Screening Program for Actionable Genetic Conditions. Issue 4 (April 2021)

Authors:
Buchanan, Adam H.; Kirchner, H. Lester; Schwartz, Marci L. B.; Kelly, Melissa A.; Schmidlen, Tara; Jones, Laney K.; Hallquist, Miranda L. G.; Rocha, Heather; Betts, Megan; Schwiter, Rachel; Butry, Loren; Lazzeri, Amanda L.; Frisbie, Lauren R.; Rahm, Alanna Kulchak; Hao, Jing; Willard, Huntington ...
Journal:
Obstetrical & gynecological survey
Issue:
Volume 76:Issue 4(2021)
Page Start:
193
Record Type:
Journal Article
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3. Molecular Diagnostic Yield of Exome Sequencing in Patients With Cerebral Palsy. Issue 7 (July 2021)

Authors:
Moreno-De-Luca, Andrés; Millan, Francisca; Pesacreta, Denis R.; Elloumi, Houda Z.; Oetjens, Matthew T.; Teigen, Claire; Wain, Karen E.; Scuffins, Julie; Myers, Scott M.; Torene, Rebecca I.; Gainullin, Vladimir G.; Arvai, Kevin; Kirchner, H. Lester; Ledbetter, David H.; Retterer, Kyle; Martin, Chr...
Journal:
Obstetrical & gynecological survey
Issue:
Volume 76:Issue 7(2021)
Page Start:
399
Record Type:
Journal Article
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4. Using ClinVar as a Resource to Support Variant Interpretation. (1st April 2016)

Authors:
Harrison, Steven M.; Riggs, Erin R.; Maglott, Donna R.; Lee, Jennifer M.; Azzariti, Danielle R.; Niehaus, Annie; Ramos, Erin M.; Martin, Christa L.; Landrum, Melissa J.; Rehm, Heidi L.
Editors:
Haines, Jonathan L.; Korf, Bruce R.; Morton, Cynthia C.; Seidman, Christine E.; Seidman, J.G.; Smith, Douglas R.
Journal:
Current protocols in human genetics
Issue:
Volume 89(2016)
Page Start:
8.16.1
Record Type:
Journal Article
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5. Harnessing rare variants in neuropsychiatric and neurodevelopment disorders—a Keystone Symposia report. Issue 1 (2nd August 2021)

Authors:
Cable, Jennifer; Purcell, Ryan H.; Robinson, Elise; Vorstman, Jacob A. S.; Chung, Wendy K.; Constantino, John N.; Sanders, Stephan J.; Sahin, Mustafa; Dolmetsch, Ricardo E.; Shah, Bina Maniar; Thurm, Audrey; Martin, Christa L.; Bearden, Carrie E.; Mulle, Jennifer G.
Journal:
Annals of the New York Academy of Sciences
Issue:
Volume 1506:Issue 1(2021)
Page Start:
5
Record Type:
Journal Article
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7. 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
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Available online (eLD content is only available in our Reading Rooms) ↗

8. 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) ↗