Publications:

Genomic, transcriptomic, and metabolomic profiles of hiPSC-derived dopamine neurons from clinically discordant brothers with identical PRKN deletions.

Npj Parkinson'S Disease

Cukier, Holly N HN; Kim, Hyunjin H; Griswold, Anthony J AJ; Codreanu, Simona G SG; Prince, Lisa M LM; Sherrod, Stacy D SD; McLean, John A JA; Dykxhoorn, Derek M DM; Ess, Kevin C KC; Hedera, Peter P; Bowman, Aaron B AB; Neely, M Diana MD

Publication Date: 2022-06-29

Variant appearance in text: rs1108135

PubMed Link: 35768426

Variant Present in the following documents:

• 41531_2022_346_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

Copy number variation analysis detects novel candidate genes involved in follicular growth and oocyte maturation in a cohort of premature ovarian failure cases.

Human Reproduction (Oxford, England)

Tšuiko, O O; Nõukas, M M; Žilina, O O; Hensen, K K; Tapanainen, J S JS; Mägi, R R; Kals, M M; Kivistik, P A PA; Haller-Kikkatalo, K K; Salumets, A A; Kurg, A A

Publication Date: 2016-08

Variant appearance in text: rs1108135

PubMed Link: 27301361

Variant Present in the following documents:

• supp_dew142_dew142supp_table3.pdf

View BVdb publication page