Kaposiform lymphangiomatosis effectively treated with MEK inhibition

por Foster, Jessica B, Li, Dong, March, Michael E, Sheppard, Sarah E, Adams, Denise M, Hakonarson, Hakon, Dori, Yoav
Publicado en EMBO Mol Med (2020)

Heterozygous Recurrent HNF4A variant p.Arg85Trp Causes Fanconi Renotubular Syndrome 4 with Maturity Onset Diabetes of the Young, an Autosomal Dominant Phenocopy of Fanconi Bickel S...

por Sheppard, Sarah E., Barrett, Brett, Muraresku, Colleen, McKnight, Heather, De Leon, Diva D., Lord, Katherine, Ganetzky, Rebecca
Publicado en Am J Med Genet A (2020)

Chromosome 4q28.3q32.3 duplication in a patient with lymphatic malformations, craniosynostosis, and dysmorphic features

por Traub, Eric S., Sheppard, Sarah E., Dori, Yoav, Burns, Katelyn D., Zackai, Elaine H., Ware, Stephanie M., Landis, Benjamin J., Li, Dong, Weaver, David D.
Publicado en Clin Dysmorphol (2021)

Muenke syndrome: Medical and surgical comorbidities and long-term management

por Murali, Chaya N., McDonald-McGinn, Donna M., Wenger, Tara Lynn, McDougall, Carey, Stroup, Bridget M., Sheppard, Sarah E., Taylor, Jesse, Bartlett, Scott P., Bhoj, Elizabeth J., Zackai, Elaine H., Santani, Avni
Publicado en Am J Med Genet A (2019)

Androgenetic chimerism as an etiology for Beckwith–Wiedemann syndrome: diagnosis and management

por Sheppard, Sarah E., Lalonde, Emilie, Adzick, N. Scott, Beck, Anita E., Bhatti, Tricia, De Leon, Diva D., Duffy, Kelly A., Ganguly, Arupa, Hathaway, Evan, Ji, Jianling, Linn, Rebecca, Lord, Katherine, Randolph, Linda M., Sajorda, Brian, States, Lisa, Conlin, Laura K., Kalish, Jennifer M.
Publicado en Genet Med (2019)

Bi-allelic Loss-of-Function Variants in NUP188 Cause a Recognizable Syndrome Characterized by Neurologic, Ocular, and Cardiac Abnormalities

por Muir, Alison M., Cohen, Jennifer L., Sheppard, Sarah E., Guttipatti, Pavithran, Lo, Tsz Y., Weed, Natalie, Doherty, Dan, DeMarzo, Danielle, Fagerberg, Christina R., Kjærsgaard, Lars, Larsen, Martin J., Rump, Patrick, Löhner, Katharina, Hirsch, Yoel, Zeevi, David A., Zackai, Elaine H., Bhoj, Elizabeth, Song, Yuanquan, Mefford, Heather C.
Publicado en Am J Hum Genet (2020)

What’s New with 22q? An update from the 22q and You Center at the Children’s Hospital of Philadelphia

por Campbell, Ian M., Sheppard, Sarah E., Crowley, T. Blaine, McGinn, Daniel E., Bailey, Alice, McGinn, Michael J., Unolt, Marta, Homans, Jelle F., Chen, Erin Y., Salmons, Harold I., Gaynor, J. William, Goldmuntz, Elizabeth, Jackson, Oksana A., Katz, Lorraine E., Mascarenhas, Maria R., Deeney, Vincent F. X., Castelein, Rene M., Zu, Karen B., Elden, Lisa, Kallish, Staci, Kolon, Thomas F., Hopkins, Sarah E., Chadehumbe, Madeline A., Lambert, Michele P., Forbes, Brian J., Moldenhauer, Julie S., Schindewolf, Erica M., Solot, Cynthia B., Moss, Edward M., Gur, Raquel E., Sullivan, Kathleen E., Emanuel, Beverly S., Zackai, Elaine H., McDonald-McGinn, Donna M.
Publicado en Am J Med Genet A (2018)