Prenatal Diagnosis of Congenital Adrenal Hyperplasia Caused by P450 Oxidoreductase Deficiency

por Reisch, Nicole, Idkowiak, Jan, Hughes, Beverly A., Ivison, Hannah E., Abdul-Rahman, Omar A., Hendon, Laura G., Olney, Ann Haskins, Nielsen, Shelly, Harrison, Rachel, Blair, Edward M., Dhir, Vivek, Krone, Nils, Shackleton, Cedric H. L., Arlt, Wiebke
Publicado 2013

Return of non-ACMG recommended incidental genetic findings to pediatric patients: considerations and opportunities from experiences in genomic sequencing

por Bowling, Kevin M., Thompson, Michelle L., Kelly, Melissa A., Scollon, Sarah, Slavotinek, Anne M., Powell, Bradford C., Kirmse, Brian M., Hendon, Laura G., Brothers, Kyle B., Korf, Bruce R., Cooper, Gregory M., Greally, John M., Hurst, Anna C. E.
Publicado 2022

Genomic Sequencing Results Disclosure in Diverse and Medically Underserved Populations: Themes, Challenges, and Strategies from the CSER Consortium

por Suckiel, Sabrina A., O’Daniel, Julianne M., Donohue, Katherine E., Gallagher, Katie M., Gilmore, Marian J., Hendon, Laura G., Joseph, Galen, Lianoglou, Billie R., Mathews, Jennifer M., Norton, Mary E., Odgis, Jacqueline A., Poss, Alexis F., Rego, Shannon, Scollon, Sarah, Yip, Tiffany, Amendola, Laura M.
Publicado 2021

Biallelic variants in CENPF causing a phenotype distinct from Strømme syndrome

por Cappuccio, Gerarda, Brillante, Simona, Tammaro, Roberta, Pinelli, Michele, De Bernardi, Margherita Lucia, Gensini, Maria Grazia, Bijlsma, Emilia K., Koopmann, Tamara T., Hoffer, Mariette J. V., McDonald, Kimberly, Hendon, Laura G., Douzgou, Sofia, Deshpande, Charulata, D'Arrigo, Stefano, Torella, Annalaura, Nigro, Vincenzo, Franco, Brunella, Brunetti‐Pierri, Nicola
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

Looking beyond the exome: a phenotype-first approach to molecular diagnostic resolution in rare and undiagnosed diseases

por Pena, Loren DM, Jiang, Yong-Hui, Schoch, Kelly, Spillmann, Rebecca C., Walley, Nicole, Stong, Nicholas, Horn, Sarah Rapisardo, Sullivan, Jennifer A., McConkie-Rosell, Allyn, Kansagra, Sujay, Smith, Edward C., El-Dairi, Mays, Bellet, Jane, Ann Keels, Martha, Jasien, Joan, Kranz, Peter G., Noel, Richard, Nagaraj, Shashi K., Lark, Robert K., Wechsler, Daniel SG, del Gaudio, Daniela, Leung, Marco L., Hendon, Laura G., Parker, Collette C., Jones, Kelly L., Goldstein, David B., Shashi, Vandana
Publicado 2017

Parents’ Perspectives on the Utility of Genomic Sequencing in the Neonatal Intensive Care Unit

por Lemke, Amy A., Thompson, Michelle L., Gimpel, Emily C., McNamara, Katelyn C., Rich, Carla A., Finnila, Candice R., Cochran, Meagan E., Lawlor, James M. J., East, Kelly M., Bowling, Kevin M., Latner, Donald R., Hiatt, Susan M., Amaral, Michelle D., Kelley, Whitley V., Greve, Veronica, Gray, David E., Felker, Stephanie A., Meddaugh, Hannah, Cannon, Ashley, Luedecke, Amanda, Jackson, Kelly E., Hendon, Laura G., Janani, Hillary M., Johnston, Marla, Merin, Lee Ann, Deans, Sarah L., Tuura, Carly, Hughes, Trent, Williams, Heather, Laborde, Kelly, Neu, Matthew B., Patrick-Esteve, Jessica, Hurst, Anna C. E., Kirmse, Brian M., Savich, Renate, Spedale, Steven B., Knight, Sara J., Barsh, Gregory S., Korf, Bruce R., Cooper, Gregory M., Brothers, Kyle B.
Publicado 2023