Novel KDM6A Kabuki Syndrome Mutation With Hyperinsulinemic Hypoglycemia and Pulmonary Hypertension Requiring ECMO

por Salguero, Maria V, Chan, Karen, Greeley, Siri Atma W, Dyamenahalli, Umesh, Waggoner, Darrel, del Gaudio, Daniela, Rajiyah, Tara, Lemelman, Michelle
Publicado 2022

Exome sequencing identifies PD‐L2 as a potential predisposition gene for lymphoma

por Shao, Jianming, Gao, Lei, Leung, Marco L., Gallinger, Bailey, Inglese, Cara, Meyn, M. Stephen, Del Gaudio, Daniela, Das, Soma, Li, Zejuan
Publicado 2022

A Point Mutation in the Gene for Asparagine-Linked Glycosylation 10B (Alg10b) Causes Nonsyndromic Hearing Impairment in Mice (Mus musculus)

por Probst, Frank J., Corrigan, Rebecca R., del Gaudio, Daniela, Salinger, Andrew P., Lorenzo, Isabel, Gao, Simon S., Chiu, Ilene, Xia, Anping, Oghalai, John S., Justice, Monica J.
Publicado 2013

Copy number analysis of NIPBL in a cohort of 510 patients reveals rare copy number variants and a mosaic deletion

por Cheng, Yu-Wei, Tan, Christopher A, Minor, Agata, Arndt, Kelly, Wysinger, Latrice, Grange, Dorothy K, Kozel, Beth A, Robin, Nathaniel H, Waggoner, Darrel, Fitzpatrick, Carrie, Das, Soma, del Gaudio, Daniela
Publicado 2014

A partial MECP2 duplication in a mildly affected adult male: a putative role for the 3' untranslated region in the MECP2 duplication phenotype

por Hanchard, Neil A, Carvalho, Claudia MB, Bader, Patricia, Thome, Aaron, Omo-Griffith, Lisa, del Gaudio, Daniela, Pehlivan, Davut, Fang, Ping, Schaaf, Christian P, Ramocki, Melissa B, Lupski, James R, Cheung, Sau Wai
Publicado 2012

Feasibility and limitations of cultured skin fibroblasts for germline genetic testing in hematologic disorders

por DeRoin, Lia, Cavalcante de Andrade Silva, Marcela, Petras, Kristin, Arndt, Kelly, Phillips, Nathaniel, Wanjari, Pankhuri, Subramanian, Hari Prasanna, Montes, David, McElherne, James, Theissen, Megan, Briese, Renee, Das, Soma, Godley, Lucy A., Segal, Jeremy, del Gaudio, Daniela, Fitzpatrick, Carrie, Churpek, Jane E.
Publicado 2022

Inverted genomic segments and complex triplication rearrangements are mediated by inverted repeats in the human genome

por Carvalho, Claudia M. B., Ramocki, Melissa B., Pehlivan, Davut, Franco, Luis M., Gonzaga-Jauregui, Claudia, Fang, Ping, McCall, Alanna, Pivnick, Eniko Karman, Hines-Dowell, Stacy, Seaver, Laurie, Friehling, Linda, Lee, Sansan, Smith, Rosemarie, del Gaudio, Daniela, Withers, Marjorie, Liu, Pengfei, Cheung, Sau Wai, Belmont, John W., Zoghbi, Huda Y., Hastings, P. J., Lupski, James R.
Publicado 2011

Update of variants identified in the pancreatic β‐cell K(ATP) channel genes KCNJ11 and ABCC8 in individuals with congenital hyperinsulinism and diabetes

por De Franco, Elisa, Saint‐Martin, Cécile, Brusgaard, Klaus, Knight Johnson, Amy E., Aguilar‐Bryan, Lydia, Bowman, Pamela, Arnoux, Jean‐Baptiste, Larsen, Annette Rønholt, Sanyoura, May, Greeley, Siri Atma W., Calzada‐León, Raúl, Harman, Bradley, Houghton, Jayne A. L., Nishimura‐Meguro, Elisa, Laver, Thomas W., Ellard, Sian, del Gaudio, Daniela, Christesen, Henrik Thybo, Bellanné‐Chantelot, Christine, Flanagan, Sarah E.
Publicado 2020

Germline Variants Incidentally Detected via Tumor-Only Genomic Profiling of Patients With Mesothelioma

por Mitchell, Owen D., Gilliam, Katie, del Gaudio, Daniela, McNeely, Kelsey E., Smith, Shaili, Acevedo, Maria, Gaduraju, Meghana, Hodge, Rachel, Ramsland, Aubrianna S. S., Segal, Jeremy, Das, Soma, Hathaway, Feighanne, Bryan, Darren S., Tawde, Sanjukta, Galasinski, Shelly, Wang, Peng, Tjota, Melissa Y., Husain, Aliya N., Armato, Samuel G., Donington, Jessica, Ferguson, Mark K., Turaga, Kiran, Churpek, Jane E., Kindler, Hedy L., Drazer, Michael W.
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