Quantifying the contribution of recessive coding variation to developmental disorders

Martin, H. C., Jones, W. D., McIntyre, R., Sanchez-Andrade, G., Sanderson, M., Stephenson, J. D., Jones, C. P., Handsaker, J., Gallone, G., Bruntraeger, M., McRae, J. F., Prigmore, E., Short, P., Niemi, M., Kaplanis, J., Radford, E. J., Akawi, N., Balasubramanian, M., Dean, J., Horton, R., Hulbert, A., Johnson, D. S., Johnson, K., Kumar, D., Lynch, S. A., Mehta, S. G., Morton, J., Parker, M. J., Splitt, M., Turnpenny, P. D., Vasudevan, P. C., Wright, M., Bassett, A., Gerety, S. S., Wright, C. F., Fitz; Patrick, D. R., Firth, H. V., Hurles, M. E., Barrett, J. C., on behalf of the Deciphering Developmental Disorders Study
American Association for the Advancement of Science (AAAS)
Published 2018