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Author/Creator Collins, Christin D.

1. 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) ↗

2. MCT8 Deficiency: Extrapyramidal Symptoms and Delayed Myelination as Prominent Features. (June 2013)

Authors:
Tonduti, Davide; Vanderver, Adeline; Berardinelli, Angela; Schmidt, Johanna L.; Collins, Christin D.; Novara, Francesca; Genni, Antonia Di; Mita, Alda; Triulzi, Fabio; Brunstrom-Hernandez, Janice E.; Zuffardi, Orsetta; Balottin, Umberto; Orcesi, Simona
Journal:
Journal of child neurology
Issue:
Volume 28:Number 6(2013)
Page Start:
795
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

3. Scaling resolution of variant classification differences in ClinVar between 41 clinical laboratories through an outlier approach. Issue 11 (11th October 2018)

Authors:
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, Narasimha...
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:
1641
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

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