The Clinical Management of Type 2 Gaucher Disease

af Weiss, Karin, Gonzalez, Ashley, Lopez, Grisel, Pedoeim, Leah, Groden, Catherine, Sidransky, Ellen
Udgivet i Mol Genet Metab (2014)

Multiple endoscopic biopsies in research subjects: safety results from a National Institutes of Health series

af Yao, Michael D., von Rosenvinge, Erik C., Groden, Catherine, Mannon, Peter J.
Udgivet i Gastrointest Endosc (2009)

Peripheral nervous system (PNS) manifestations of Chediak-Higashi Disease (CHD)

af Lehky, Tanya J., Groden, Catherine, Lear, Barbara, Toro, Camilo, Introne, Wendy J.
Udgivet i Muscle Nerve (2016)

Treatment of Hypophosphatemic Rickets in Generalized Arterial Calcification of Infancy (GACI) Without Worsening of Vascular Calcification

af Ferreira, Carlos R., Ziegler, Shira G., Gupta, Ashutosh, Groden, Catherine, Hsu, Kevin S., Gahl, William A.
Udgivet i Am J Med Genet A (2016)

PARK7-Related Early Onset Parkinson Disease in the Setting of Complete Uniparental Isodisomy of Chromosome 1

af Xiao, Changrui, Markello, Thomas, Zein, Wadih M., Bishop, Rachel, Groden, Catherine, Gahl, William, Toro, Camilo
Udgivet i Neurol Genet (2021)

Case report: extreme coronary calcifications and hypomagnesemia in a patient with a 17q12 deletion involving HNF1B

af Li, Howard J., Groden, Catherine, Hoenig, Melanie P., Ray, Evan C., Ferreira, Carlos R., Gahl, Willam, Novacic, Danica
Udgivet i BMC Nephrol (2019)

Suppression of Inflammation in Ulcerative Colitis by Interferon-β-1a Is Accompanied by Inhibition of IL-13 Production

af Mannon, Peter J., Hornung, Ronald L., Yang, Zhiqiong, Yi, Chuli, Groden, Catherine, Friend, Julia, Yao, Michael, Strober, Warren, Fuss, Ivan J.
Udgivet 2010

Clinical course and prognosis in patients with Gaucher disease and parkinsonism

af Lopez, Grisel, Kim, Jenny, Wiggs, Edythe, Cintron, Dahima, Groden, Catherine, Tayebi, Nahid, Mistry, Pramod K., Pastores, Gregory M., Zimran, Ari, Goker-Alpan, Ozlem, Sidransky, Ellen
Udgivet i Neurol Genet (2016)

Biallelic variants in two complex I genes cause abnormal splicing defects in probands with mild Leigh syndrome

af Johnstone, Thomas, Wang, Jennifer, Ross, Daron, Balanda, Nicholas, Huang, Yan, Godfrey, Rena, Groden, Catherine, Barton, Brandon R., Gahl, William, Toro, Camilo, Malicdan, May Christine V.
Udgivet i Mol Genet Metab (2020)

A sialidosis type I cohort and a quantitative approach to multimodal ophthalmic imaging of the macular cherry-red spot

af Daich Varela, Malena, Zein, Wadih M, Toro, Camilo, Groden, Catherine, Johnston, Jean, Huryn, Laryssa A, d’Azzo, Alessandra, Tifft, Cynthia J, FitzGibbon, Edmond J
Udgivet i Br J Ophthalmol (2021)

Expanding the phenotype of COPA syndrome: a kindred with typical and atypical features

af Taveira-DaSilva, Angelo M, Markello, Thomas C, Kleiner, David E, Jones, Amanda M, Groden, Catherine, Macnamara, Ellen, Yokoyama, Tadafumi, Gahl, William A, Gochuico, Bernadette R, Moss, Joel
Udgivet i J Med Genet (2019)

The neurobiology of glucocerebrosidase-associated parkinsonism: a positron emission tomography study of dopamine synthesis and regional cerebral blood flow

af Goker-Alpan, Ozlem, Masdeu, Joseph C., Kohn, Philip D., Ianni, Angela, Lopez, Grisel, Groden, Catherine, Chapman, Molly C., Cropp, Brett, Eisenberg, Daniel P., Maniwang, Emerson D., Davis, Joie, Wiggs, Edythe, Sidransky, Ellen, Berman, Karen F.
Udgivet 2012

Neurodegeneration as the presenting symptom in 2 adults with xeroderma pigmentosum complementation group F

af Shanbhag, Niraj M., Geschwind, Michael D., DiGiovanna, John J., Groden, Catherine, Godfrey, Rena, Yousefzadeh, Matthew J., Wade, Erin A., Niedernhofer, Laura J., Malicdan, May Christine V., Kraemer, Kenneth H., Gahl, William A., Toro, Camilo
Udgivet i Neurol Genet (2018)

The implications of familial incidental findings from exome sequencing: The NIH Undiagnosed Diseases Program experience

af Lawrence, Lauren, Sincan, Murat, Markello, Thomas, Adams, David R, Gill, Fred, Godfrey, Rena, Golas, Gretchen, Groden, Catherine, Landis, Dennis, Nehrebecky, Michele, Park, Grace, Soldatos, Ariane, Tifft, Cynthia, Toro, Camilo, Wahl, Colleen, Wolfe, Lynne, Gahl, William A., Boerkoel, Cornelius F.
Udgivet 2014

Neurologic involvement in patients with atypical Chediak-Higashi disease

af Introne, Wendy J., Westbroek, Wendy, Cullinane, Andrew R., Groden, Catherine A., Bhambhani, Vikas, Golas, Gretchen A., Baker, Eva H., Lehky, Tanya J., Snow, Joseph, Ziegler, Shira G., Adams, David R., Dorward, Heidi M., Hess, Richard A., Huizing, Marjan, Gahl, William A., Toro, Camilo
Udgivet i Neurology (2016)

Neurologic involvement in patients with atypical Chediak-Higashi disease

af Introne, Wendy J., Westbroek, Wendy, Groden, Catherine A., Bhambhani, Vikas, Golas, Gretchen A., Baker, Eva H., Lehky, Tanya J., Snow, Joseph, Ziegler, Shira G., Malicdan, May Christine V., Adams, David R., Dorward, Heidi M., Hess, Richard A., Huizing, Marjan, Gahl, William A., Toro, Camilo
Udgivet i Neurology (2017)

NT5E Mutations and Arterial Calcifications

af St. Hilaire, Cynthia, Ziegler, Shira G., Markello, Thomas C., Brusco, Alfredo, Groden, Catherine, Gill, Fred, Carlson-Donohoe, Hannah, Lederman, Robert J., Chen, Marcus Y., Yang, Dan, Siegenthaler, Michael P., Arduino, Carlo, Mancini, Cecilia, Freudenthal, Bernard, Stanescu, Horia C., Zdebik, Anselm A., Chaganti, R. Krishna, Nussbaum, Robert L., Kleta, Robert, Gahl, William A., Boehm, Manfred
Udgivet 2011

The NIH Undiagnosed Diseases Program: Insights into Rare Diseases

af Gahl, William A., Markello, Thomas C., Toro, Camilo, Fajardo, Karin Fuentes, Sincan, Murat, Gill, Fred, Carlson-Donohoe, Hannah, Gropman, Andrea, Pierson, Tyler Mark, Golas, Gretchen, Wolfe, Lynne, Groden, Catherine, Godfrey, Rena, Nehrebecky, Michele, Wahl, Colleen, Landis, Dennis M. D., Yang, Sandra, Madeo, Anne, Mullikin, James C, Boerkoel, Cornelius F., Tifft, Cynthia J., Adams, David
Udgivet 2011

Cysteinyl-tRNA Synthetase Mutations Cause a Multi-System, Recessive Disease That Includes Microcephaly, Developmental Delay, and Brittle Hair and Nails

af Kuo, Molly E., Theil, Arjan F., Kievit, Anneke, Malicdan, May Christine, Introne, Wendy J., Christian, Thomas, Verheijen, Frans W., Smith, Desiree E.C., Mendes, Marisa I., Hussaarts-Odijk, Lidia, van der Meijden, Eric, van Slegtenhorst, Marjon, Wilke, Martina, Vermeulen, Wim, Raams, Anja, Groden, Catherine, Shimada, Shino, Meyer-Schuman, Rebecca, Hou, Ya Ming, Gahl, William A., Antonellis, Anthony, Salomons, Gajja S., Mancini, Grazia M.S.
Udgivet i Am J Hum Genet (2019)

Computational evaluation of exome sequence data using human and model organism phenotypes improves diagnostic efficiency

af Bone, William P., Washington, Nicole L., Buske, Orion J., Adams, David R., Davis, Joie, Draper, David, Flynn, Elise D., Girdea, Marta, Godfrey, Rena, Golas, Gretchen, Groden, Catherine, Jacobsen, Julius, Köhler, Sebastian, Lee, Elizabeth M. J., Links, Amanda E., Markello, Thomas C., Mungall, Christopher J., Nehrebecky, Michele, Robinson, Peter N., Sincan, Murat, Soldatos, Ariane G., Tifft, Cynthia J., Toro, Camilo, Trang, Heather, Valkanas, Elise, Vasilevsky, Nicole, Wahl, Colleen, Wolfe, Lynne A., Boerkoel, Cornelius F., Brudno, Michael, Haendel, Melissa A., Gahl, William A., Smedley, Damian
Udgivet i Genet Med (2016)