Publications:

Whole-genome analysis of human embryonic stem cells enables rational line selection based on genetic variation.

Cell Stem Cell

Merkle, Florian T FT; Ghosh, Sulagna S; Genovese, Giulio G; Handsaker, Robert E RE; Kashin, Seva S; Meyer, Daniel D; Karczewski, Konrad J KJ; O'Dushlaine, Colm C; Pato, Carlos C; Pato, Michele M; MacArthur, Daniel G DG; McCarroll, Steven A SA; Eggan, Kevin K

Publication Date: 2022-03-03

Variant appearance in text: ADCK3: 730G>C; rs199619932

PubMed Link: 35176222

Variant Present in the following documents:

• mmc5.xlsx, sheet 1
• mmc5.xlsx, sheet 3

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De novo missense variant in the GTPase effector domain (GED) of DNM1L leads to static encephalopathy and seizures.

Cold Spring Harbor Molecular Case Studies

Assia Batzir, Nurit N; Bhagwat, Pranjali K PK; Eble, Tanya N TN; Liu, Pengfei P; Eng, Christine M CM; Elsea, Sarah H SH; Robak, Laurie A LA; Scaglia, Fernando F; Goldman, Alica M AM; Dhar, Shweta U SU; Wangler, Michael F MF

Publication Date: 2019-06

Variant appearance in text: ADCK3: 730G>C; rs199619932

PubMed Link: 30850373

Variant Present in the following documents:

• Main text
• MCS003673Ass.pdf

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Genomic and Transcriptomic Characterization Links Cell Lines with Aggressive Head and Neck Cancers.

Cell Reports

Cheng, Hui H; Yang, Xinping X; Si, Han H; Saleh, Anthony D AD; Xiao, Wenming W; Coupar, Jamie J; Gollin, Susanne M SM; Ferris, Robert L RL; Issaeva, Natalia N; Yarbrough, Wendell G WG; Prince, Mark E ME; Carey, Thomas E TE; Van Waes, Carter C; Chen, Zhong Z

Publication Date: 2018-10-30

Variant appearance in text: ADCK3: G244R; rs199619932

PubMed Link: 30380422

Variant Present in the following documents:

• NIHMS1511993-supplement-6.xlsx, sheet 1

View BVdb publication page