ACMG practice guideline: Genetic evaluation of short stature

Por Seaver, Laurie H., Irons, Mira
Publicado em 2009

Indications for genetic referral: a guide for healthcare providers

Por Pletcher, Beth A., Toriello, Helga V., Noblin, Sarah J., Seaver, Laurie H., Driscoll, Deborah A., Bennett, Robin L., Gross, Susan J.
Publicado em 2007

Mutations in FOXC2 (MFH-1), a Forkhead Family Transcription Factor, Are Responsible for the Hereditary Lymphedema-Distichiasis Syndrome

Por Fang, Jianming, Dagenais, Susan L., Erickson, Robert P., Arlt, Martin F., Glynn, Michael W., Gorski, Jerome L., Seaver, Laurie H., Glover, Thomas W.
Publicado em 2000

A Novel Mutation in the HSD17B10 Gene of a 10-Year-Old Boy with Refractory Epilepsy, Choreoathetosis and Learning Disability

Por Seaver, Laurie H., He, Xue-Ying, Abe, Keith, Cowan, Tina, Enns, Gregory M., Sweetman, Lawrence, Philipp, Manfred, Lee, Sansan, Malik, Mazhar, Yang, Song-Yu
Publicado em 2011

βIV Spectrinopathies Cause Profound Intellectual Disability, Congenital Hypotonia, and Motor Axonal Neuropathy

Por Wang, Chih-Chuan, Ortiz-González, Xilma R., Yum, Sabrina W., Gill, Sara M., White, Amy, Kelter, Erin, Seaver, Laurie H., Lee, Sansan, Wiley, Graham, Gaffney, Patrick M., Wierenga, Klaas J., Rasband, Matthew N.
Publicado no Am J Hum Genet (2018)

Mutations in PIEZO2 Cause Gordon Syndrome, Marden-Walker Syndrome, and Distal Arthrogryposis Type 5

Por McMillin, Margaret J., Beck, Anita E., Chong, Jessica X., Shively, Kathryn M., Buckingham, Kati J., Gildersleeve, Heidi I.S., Aracena, Mariana I., Aylsworth, Arthur S., Bitoun, Pierre, Carey, John C., Clericuzio, Carol L., Crow, Yanick J., Curry, Cynthia J., Devriendt, Koenraad, Everman, David B., Fryer, Alan, Gibson, Kate, Giovannucci Uzielli, Maria Luisa, Graham, John M., Hall, Judith G., Hecht, Jacqueline T., Heidenreich, Randall A., Hurst, Jane A., Irani, Sarosh, Krapels, Ingrid P.C., Leroy, Jules G., Mowat, David, Plant, Gordon T., Robertson, Stephen P., Schorry, Elizabeth K., Scott, Richard H., Seaver, Laurie H., Sherr, Elliott, Splitt, Miranda, Stewart, Helen, Stumpel, Constance, Temel, Sehime G., Weaver, David D., Whiteford, Margo, Williams, Marc S., Tabor, Holly K., Smith, Joshua D., Shendure, Jay, Nickerson, Deborah A., Bamshad, Michael J.
Publicado em 2014