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KDM5A mutations identified in autism spectrum disorder using forward genetics.
Published in:
eLife, 2020, p. 1, doi. 10.7554/eLife.56883
By:
- Hayek, Lauretta El;
- Tuncay, Islam Oguz;
- Nijem, Nadine;
- Russell, Jamie;
- Ludwig, Sara;
- Kaur, Kiran;
- Xiaohong Li;
- Anderton, Priscilla;
- Tang, Miao;
- Gerard, Amanda;
- Heinze, Anja;
- Zacher, Pia;
- Alsaif, Hessa S.;
- Rad, Aboulfazl;
- Abbaszadegan, Kazem Hassanpour Mohammad Reza;
- Washington, Camerun;
- DuPont, Barbara R.;
- Louie, Raymond J.;
- Couse, Madeline;
- Faden, Maha
Publication type:
Article
RNA analysis of intronic variants in the LAMA2 gene detected by whole genome sequencing confirms a rare dual diagnosis of incontinentia pigmenti with limb‐girdle muscular dystrophy.
Published in:
2023
By:
- Washington, Camerun;
- Stolerman, Elliot S.;
- Cooley‐Coleman, Jessica A.;
- Jones, Julie R.;
- Chen‐Deutsch, Xiangwen
Publication type:
Case Study