Journal article
Loss-of-function variants in NFIA provide further support that NFIA is a critical gene in 1p32-p31 deletion syndrome: A four patient series
Anya Revah-Politi, Mythily Ganapathi, Louise Bier, Megan T Cho, David B Goldstein, Parisa Hemati, Alejandro Iglesias, Jane Juusola, John Pappas, Slave Petrovski, Ashley L Wilson, Vimla S Aggarwal, Kwame Anyane-Yeboa
American Journal of Medical Genetics Part A | WILEY | Published : 2017
DOI: 10.1002/ajmg.a.38460
Grants
Funding Acknowledgements
David B. Goldstein, PhD is a founder of and holds equity in Pairnomix and Praxis, serves as a consultant to AstraZeneca, and has research supported by Janssen, Gilead, Biogen, and UCB. Slave Petrovski, PhD serves on the advisory board and is an equity holder of Pairnomix. Jane Juusola, PhD and Megan T. Cho, MS, CGC are employees of GeneDx laboratories. Other authors have no conflicts of interest to declare.