The Clinical Management of Type 2 Gaucher Disease

Por Weiss, Karin, Gonzalez, Ashley, Lopez, Grisel, Pedoeim, Leah, Groden, Catherine, Sidransky, Ellen
Publicado no Mol Genet Metab (2014)

Bi-allelic IARS Mutations in a Child with Intra-Uterine Growth Retardation, Neonatal Cholestasis, and Mild Developmental Delay

Por Orenstein, Naama, Weiss, Karin, Oprescu, Stephanie N., Shapira, Rivka, Kidron, Dvora, Vanagaite-Basel, Lina, Antonellis, Anthony, Muenke, Maximilian
Publicado no Clin Genet (2017)

SIX3 Deletions and Incomplete Penetrance in Families Affected by Holoprosencephaly

Por Stokes, Bethany, Berger, Seth I., Hall, Beth A., Weiss, Karin, Hadley, Donald W., Murdock, David R., Ramanathan, Subhadra, Clark, Robin D., Roessler, Erich, Kruszka, Paul, Muenke, Maximilian
Publicado no Congenit Anom (Kyoto) (2017)

Haploinsufficiency of ZNF462 is associated with craniofacial anomalies, corpus callosum dysgenesis, ptosis, and developmental delay

Por Weiss, Karin, Wigby, Kristen, Fannemel, Madeleine, Henderson, Lindsay B, Beck, Natalie, Ghali, Neeti, Study, D D D, Anderlid, Britt-Marie, Lundin, Johanna, Hamosh, Ada, Jones, Marilyn C, Ghedia, Sondhya, Muenke, Maximilian, Kruszka, Paul
Publicado no Eur J Hum Genet (2017)

Human Germline Hedgehog Pathway Mutations Predispose to Fatty Liver

Por Guillen Sacoto, Maria J., Martinez, Ariel F., Abe, Yu, Kruszka, Paul, Weiss, Karin, Everson, Joshua L., Bataller, Ramon, Kleiner, David E., Ward, Jerrold M., Sulik, Kathleen K., Lipinski, Robert J., Solomon, Benjamin D., Muenke, Maximilian
Publicado no J Hepatol (2017)

In-depth investigations of adolescents and adults with holoprosencephaly identify unique characteristics

Por Weiss, Karin, Kruszka, Paul, Guillen Sacoto, Maria J, Addissie, Yonit A, Hadley, Donald W, Hadsall, Casey K, Stokes, Bethany, Hu, Ping, Roessler, Erich, Solomon, Beth, Wiggs, Edythe, Thurm, Audrey, Hufnagel, Robert B, Zein, Wadih M, Hahn, Jin S, Stashinko, Elaine, Levey, Eric, Baldwin, Debbie, Clegg, Nancy J, Delgado, Mauricio R, Muenke, Maximilian
Publicado no Genet Med (2018)

De Novo Mutations in CHD4, an ATP-Dependent Chromatin Remodeler Gene, Cause an Intellectual Disability Syndrome with Distinctive Dysmorphisms

Por Weiss, Karin, Terhal, Paulien A., Cohen, Lior, Bruccoleri, Michael, Irving, Melita, Martinez, Ariel F., Rosenfeld, Jill A., Machol, Keren, Yang, Yaping, Liu, Pengfei, Walkiewicz, Magdalena, Beuten, Joke, Gomez-Ospina, Natalia, Haude, Katrina, Fong, Chin-To, Enns, Gregory M., Bernstein, Jonathan A., Fan, Judith, Gotway, Garrett, Ghorbani, Mohammad, van Gassen, Koen, Monroe, Glen R., van Haaften, Gijs, Basel-Vanagaite, Lina, Yang, Xiang-Jiao, Campeau, Philippe M., Muenke, Maximilian
Publicado no Am J Hum Genet (2016)