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Author/Creator Rehm, Heidi L.

3. Overview of Specifications to the ACMG/AMP Variant Interpretation Guidelines. (8th August 2019)

Authors:
Harrison, Steven M.; Biesecker, Leslie G.; Rehm, Heidi L.
Editors:
Dracopoli, Nicholas C.; 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 103(2019)
Page Start:
n/a
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

4. Rare Coding Variants Associated With Electrocardiographic Intervals Identify Monogenic Arrhythmia Susceptibility Genes: A Multi-Ancestry Analysis. (28th July 2021)

Authors:
Choi, Seung Hoan; Jurgens, Sean J.; Haggerty, Christopher M.; Hall, Amelia W.; Halford, Jennifer L.; Morrill, Valerie N.; Weng, Lu-Chen; Lagerman, Braxton; Mirshahi, Tooraj; Pettinger, Mary; Guo, Xiuqing; Lin, Henry J.; Alonso, Alvaro; Soliman, Elsayed Z.; Kornej, Jelena; Lin, Honghuang; Moscati,...
Journal:
Circulation
Issue:
Volume 14:Number 4(2021)
Page Start:
e003300
Record Type:
Journal Article
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6. 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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Available online (eLD content is only available in our Reading Rooms) ↗

7. Matchmaker Exchange. (13th February 2018)

Authors:
Sobreira, Nara L. M.; Arachchi, Harindra; Buske, Orion J.; Chong, Jessica X.; Hutton, Ben; Foreman, Julia; Schiettecatte, François; Groza, Tudor; Jacobsen, Julius O.B.; Haendel, Melissa A.; Boycott, Kym M.; Hamosh, Ada; Rehm, Heidi L.
Editors:
Dracopoli, Nicholas C.; 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 95(2017)
Page Start:
9.31.1
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

8. Seqr: A web‐based analysis and collaboration tool for rare disease genomics. Issue 6 (21st March 2022)

Authors:
Pais, Lynn S.; Snow, Hana; Weisburd, Ben; Zhang, Shifa; Baxter, Samantha M.; DiTroia, Stephanie; O'Heir, Emily; England, Eleina; Chao, Katherine R.; Lemire, Gabrielle; Osei‐Owusu, Ikeoluwa; VanNoy, Grace E.; Wilson, Michael; Nguyen, Kevin; Arachchi, Harindra; Phu, William; Solomonson, Matthew; Ma...
Other Names:
Boycott Kym guestEditor.; Hamosh Ada guestEditor.; Rehm Heidi guestEditor.
Journal:
Human mutation
Issue:
Volume 43:Issue 6(2022)
Page Start:
698
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗