The Clinical Management of Type 2 Gaucher Disease

od Weiss, Karin, Gonzalez, Ashley, Lopez, Grisel, Pedoeim, Leah, Groden, Catherine, Sidransky, Ellen
Izdano u Mol Genet Metab (2014)

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

od Yao, Michael D., von Rosenvinge, Erik C., Groden, Catherine, Mannon, Peter J.
Izdano u Gastrointest Endosc (2009)

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

od Lehky, Tanya J., Groden, Catherine, Lear, Barbara, Toro, Camilo, Introne, Wendy J.
Izdano u Muscle Nerve (2016)

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

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

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

od Xiao, Changrui, Markello, Thomas, Zein, Wadih M., Bishop, Rachel, Groden, Catherine, Gahl, William, Toro, Camilo
Izdano u Neurol Genet (2021)

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

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

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

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

Clinical course and prognosis in patients with Gaucher disease and parkinsonism

od 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
Izdano u Neurol Genet (2016)

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

od 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.
Izdano u Mol Genet Metab (2020)

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

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

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

od 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
Izdano u J Med Genet (2019)

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

od 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.
Izdano 2012

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

od 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
Izdano u Neurol Genet (2018)

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

od 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.
Izdano 2014

Neurologic involvement in patients with atypical Chediak-Higashi disease

od 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
Izdano u Neurology (2016)

Neurologic involvement in patients with atypical Chediak-Higashi disease

od 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
Izdano u Neurology (2017)

NT5E Mutations and Arterial Calcifications

od 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
Izdano 2011

The NIH Undiagnosed Diseases Program: Insights into Rare Diseases

od 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
Izdano 2011

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

od 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.
Izdano u Am J Hum Genet (2019)

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

od 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
Izdano u Genet Med (2016)