Perspectives of diverse Spanish- and English-speaking patients on the clinical use of polygenic risk scores

por Suckiel, Sabrina A., Braganza, Giovanna T., Aguiñiga, Karla López, Odgis, Jacqueline A., Bonini, Katherine E., Kenny, Eimear E., Hamilton, Jada G., Abul-Husn, Noura S.
Publicado 2022

Conducting clinical genomics research during the COVID‐19 pandemic: Lessons learned from the CSER consortium experience

por Kraft, Stephanie A., Russell, Heidi, Bensen, Jeannette T., Bonini, Katherine E., Robinson, Jill O., Sahin‐Hodoglugil, Nuriye, Renna, Kathleen, Hindorff, Lucia A., Kaufman, Dave, Horowitz, Carol R., Waltz, Margaret, Zepp, Jamilyn M., Knight, Sara J.
Publicado 2022

Poison exon annotations improve the yield of clinically relevant variants in genomic diagnostic testing

por Felker, Stephanie A, Lawlor, James MJ, Hiatt, Susan M, Thompson, Michelle L, Latner, Donald R, Finnila, Candice R, Bowling, Kevin M, Bonnstetter, Zachary T, Bonini, Katherine E, Kelly, Nicole R, Kelley, Whitley V, Hurst, Anna CE, Kelly, Melissa A, Nakouzi, Ghunwa, Hendon, Laura G, Bebin, E Martina, Kenny, Eimear E, Cooper, Gregory M
Publicado 2023

The NYCKidSeq randomized controlled trial: Impact of GUÍA digitally enhanced genetic counseling in racially and ethnically diverse families

por Suckiel, Sabrina A., Kelly, Nicole R., Odgis, Jacqueline A., Gallagher, Katie M., Sebastin, Monisha, Bonini, Katherine E., Marathe, Priya N., Brown, Kaitlyn, Di Biase, Miranda, Ramos, Michelle A., Rodriguez, Jessica E., Scarimbolo, Laura, Insel, Beverly J., Ferar, Kathleen D.M., Zinberg, Randi E., Diaz, George A., Greally, John M., Abul-Husn, Noura S., Bauman, Laurie J., Gelb, Bruce D., Horowitz, Carol R., Wasserstein, Melissa P., Kenny, Eimear E.
Publicado 2023

Molecular diagnostic yield of genome sequencing versus targeted gene panel testing in racially and ethnically diverse pediatric patients

por Abul-Husn, Noura S., Marathe, Priya N., Kelly, Nicole R., Bonini, Katherine E., Sebastin, Monisha, Odgis, Jacqueline A., Abhyankar, Avinash, Brown, Kaitlyn, Di Biase, Miranda, Gallagher, Katie M., Guha, Saurav, Ioele, Nicolette, Okur, Volkan, Ramos, Michelle A., Rodriguez, Jessica E., Rehman, Atteeq U., Thomas-Wilson, Amanda, Edelmann, Lisa, Zinberg, Randi E., Diaz, George A., Greally, John M., Jobanputra, Vaidehi, Suckiel, Sabrina A., Horowitz, Carol R., Wasserstein, Melissa P., Kenny, Eimear E., Gelb, Bruce D.
Publicado 2023

The TeleKidSeq pilot study: incorporating telehealth into clinical care of children from diverse backgrounds undergoing whole genome sequencing

por Sebastin, Monisha, Odgis, Jacqueline A., Suckiel, Sabrina A., Bonini, Katherine E., Di Biase, Miranda, Brown, Kaitlyn, Marathe, Priya, Kelly, Nicole R., Ramos, Michelle A., Rodriguez, Jessica E., Aguiñiga, Karla López, Lopez, Jessenia, Maria, Estefany, Rodriguez, Michelle A., Yelton, Nicole M., Cunningham-Rundles, Charlotte, Gallagher, Katie, McDonald, Thomas V., McGoldrick, Patricia E., Robinson, Mimsie, Rubinstein, Arye, Shulman, Lisa H., Wolf, Steven M., Yozawitz, Elissa, Zinberg, Randi E., Abul-Husn, Noura S., Bauman, Laurie J., Diaz, George A., Ferket, Bart S., Greally, John M., Jobanputra, Vaidehi, Gelb, Bruce D., Horowitz, Carol R., Kenny, Eimear E., Wasserstein, Melissa P.
Publicado 2023