Presentation and care of a family with Huntington disease in a resource-limited community

por Charles, Jarmal, Lessey, Lindyann, Rooney, Jennifer, Prokop, Ingmar, Yearwood, Katherine, Da Breo, Hazel, Rooney, Patrick, Walker, Ruth H., Sobering, Andrew K.
Publicado 2017

A novel unbalanced translocation between chromosomes 5p and 18q leading to dysmorphology and global developmental delay

por Verdi, Giavanna, Li, Dong, Elsea, Sarah H., Nelson, Beverly, Bhoj, Elizabeth J., Hakonarson, Hakon, Yearwood, Katherine R., Upadhya, Sharmila, Gluschitz, Sarah, Smith, Janice L., Sobering, Andrew K.
Publicado 2022

Clinical, Serological, and Molecular Observations from a Case Series Study during the Asian Lineage Zika Virus Outbreak in Grenada during 2016

por Brenciaglia, Marco, Noël, Trevor P., Fields, Paul J., Bidaisee, Satesh, Myers, Todd E., Nelson, William M., Venkateswaran, Neeraja, Venkateswaran, Kodumudi, Parameswaran, Nishanth, Bahadoor, Avi, Yearwood, Katherine, Mapp-Alexander, Veronica, Mitchell, George, LaBeaud, A. Desiree, Macpherson, Calum N. L.
Publicado 2018

Variants in PHF8 cause a spectrum of X-linked neurodevelopmental disorders and facial dysmorphology

por Sobering, Andrew K., Bryant, Laura M., Li, Dong, McGaughran, Julie, Maystadt, Isabelle, Moortgat, Stephanie, Graham, John M., van Haeringen, Arie, Ruivenkamp, Claudia, Cuperus, Roos, Vogt, Julie, Morton, Jenny, Brasch-Andersen, Charlotte, Steenhof, Maria, Hansen, Lars Kjærsgaard, Adler, Élodie, Lyonnet, Stanislas, Pingault, Veronique, Sandrine, Marlin, Ziegler, Alban, Donald, Tyhiesia, Nelson, Beverly, Holt, Brandon, Petryna, Oleksandra, Firth, Helen, McWalter, Kirsty, Zyskind, Jacob, Telegrafi, Aida, Juusola, Jane, Person, Richard, Bamshad, Michael J., Earl, Dawn, Tsai, Anne Chun-Hui, Yearwood, Katherine R., Marco, Elysa, Nowak, Catherine, Douglas, Jessica, Hakonarson, Hakon, Bhoj, Elizabeth J.
Publicado 2022

Variants in PHF8 cause a spectrum of X-linked neurodevelopmental disorders and facial dysmorphology

por Sobering, Andrew K., Bryant, Laura M., Li, Dong, McGaughran, Julie, Maystadt, Isabelle, Moortgat, Stephanie, Graham, John M., van Haeringen, Arie, Ruivenkamp, Claudia, Cuperus, Roos, Vogt, Julie, Morton, Jenny, Brasch-Andersen, Charlotte, Steenhof, Maria, Hansen, Lars Kjærsgaard, Adler, Élodie, Lyonnet, Stanislas, Pingault, Veronique, Sandrine, Marlin, Ziegler, Alban, Donald, Tyhiesia, Nelson, Beverly, Holt, Brandon, Petryna, Oleksandra, Firth, Helen, McWalter, Kirsty, Zyskind, Jacob, Telegrafi, Aida, Juusola, Jane, Person, Richard, Bamshad, Michael J., Earl, Dawn, Chun-Hui Tsai, Anne, Yearwood, Katherine R., Marco, Elysa, Nowak, Catherine, Douglas, Jessica, Hakonarson, Hakon, Bhoj, Elizabeth J.
Publicado 2022