Search

Author/Creator Franklin, Samuel J.

1. Hypomorphic alleles pose challenges in rare disease genomic variant interpretation. Issue 6 (3rd September 2021)

Authors:
Nolan, Daniel K.; Chaudhari, Bimal; Franklin, Samuel J.; Wijeratne, Saranga; Pfau, Ruthann; Mihalic Mosher, Theresa; Crist, Erin; McBride, Kim L.; White, Peter; Wilson, Richard K.; Hickey, Scott E.; Koboldt, Daniel C.
Journal:
Clinical genetics
Issue:
Volume 100:Issue 6(2021)
Page Start:
775
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

2. Long‐read whole genome sequencing reveals HOXD13 alterations in synpolydactyly. Issue 2 (16th December 2021)

Authors:
Melas, Marilena; Kautto, Esko A.; Franklin, Samuel J.; Mori, Mari; McBride, Kim L.; Mosher, Theresa Mihalic; Pfau, Ruthann B.; Hernandez‐Gonzalez, Maria Elena; McGrath, Sean D.; Magrini, Vincent J.; White, Peter; Samora, Julie Balch; Koboldt, Daniel C.; Wilson, Richard K.
Journal:
Human mutation
Issue:
Volume 43:Issue 2(2022)
Page Start:
189
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

Limit your search