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Author/Creator DiStefano, Marina T.

1. Adaptation of ACMG/AMP Guidelines for Standardized Variant Interpretation in Familial Hypercholesterolemia. (June 2018)

Authors:
Iacocca, Michael A.; Chora, Joana; Carrie, Alain; Leigh, Sarah E.; Tichy, Lukas; DiStefano, Marina T.; Defesche, Joep; Kurtz, C.L.; Sijbrands, Eric J.; Freiberger, Tomas; Hegele, Robert A.; Knowles, Joshua W.; Bourbon, Mafalda
Journal:
Atherosclerosis
Issue:
Volume 32(2018)
Page Start:
51
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

2. 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) ↗

4. Expert specification of the ACMG/AMP variant interpretation guidelines for genetic hearing loss. Issue 11 (11th October 2018)

Authors:
Oza, Andrea M.; DiStefano, Marina T.; Hemphill, Sarah E.; Cushman, Brandon J.; Grant, Andrew R.; Siegert, Rebecca K.; Shen, Jun; Chapin, Alex; Boczek, Nicole J.; Schimmenti, Lisa A.; Murry, Jaclyn B.; Hasadsri, Linda; Nara, Kiyomitsu; Kenna, Margaret; Booth, Kevin T.; Azaiez, Hela; Griffith, Andr...
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:
1593
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

5. Recommendations for interpreting the loss of function PVS1 ACMG/AMP variant criterion. Issue 11 (7th September 2018)

Authors:
Abou Tayoun, Ahmad N.; Pesaran, Tina; DiStefano, Marina T.; Oza, Andrea; Rehm, Heidi L.; Biesecker, Leslie G.; Harrison, Steven M.
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:
1517
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

6. Utilizing ClinGen gene‐disease validity and dosage sensitivity curations to inform variant classification. Issue 8 (15th November 2021)

Authors:
Thaxton, Courtney; Good, Molly E.; DiStefano, Marina T.; Luo, Xi; Andersen, Erica F.; Thorland, Erik; Berg, Jonathan; Martin, Christa Lese; Rehm, Heidi L.; Riggs, Erin R.
Other Names:
Laner Andreas guestEditor.; Maver Ales guestEditor.; den Dunnen Johan T. guestEditor.
Journal:
Human mutation
Issue:
Volume 43:Issue 8(2022)
Page Start:
1031
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗