The Clinical Management of Type 2 Gaucher Disease

著者: Weiss, Karin, Gonzalez, Ashley, Lopez, Grisel, Pedoeim, Leah, Groden, Catherine, Sidransky, Ellen
出版年 Mol Genet Metab (2014)

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

著者: Yao, Michael D., von Rosenvinge, Erik C., Groden, Catherine, Mannon, Peter J.
出版年 Gastrointest Endosc (2009)

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

著者: Lehky, Tanya J., Groden, Catherine, Lear, Barbara, Toro, Camilo, Introne, Wendy J.
出版年 Muscle Nerve (2016)

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

著者: Ferreira, Carlos R., Ziegler, Shira G., Gupta, Ashutosh, Groden, Catherine, Hsu, Kevin S., Gahl, William A.
出版年 Am J Med Genet A (2016)

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

著者: Xiao, Changrui, Markello, Thomas, Zein, Wadih M., Bishop, Rachel, Groden, Catherine, Gahl, William, Toro, Camilo
出版年 Neurol Genet (2021)

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

著者: Li, Howard J., Groden, Catherine, Hoenig, Melanie P., Ray, Evan C., Ferreira, Carlos R., Gahl, Willam, Novacic, Danica
出版年 BMC Nephrol (2019)

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

著者: Mannon, Peter J., Hornung, Ronald L., Yang, Zhiqiong, Yi, Chuli, Groden, Catherine, Friend, Julia, Yao, Michael, Strober, Warren, Fuss, Ivan J.
出版事項 2010

Clinical course and prognosis in patients with Gaucher disease and parkinsonism

著者: 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
出版年 Neurol Genet (2016)

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

著者: 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.
出版年 Mol Genet Metab (2020)

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

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

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

著者: 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
出版年 J Med Genet (2019)

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

著者: 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.
出版事項 2012

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

著者: 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
出版年 Neurol Genet (2018)

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

著者: 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.
出版事項 2014

Neurologic involvement in patients with atypical Chediak-Higashi disease

著者: 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
出版年 Neurology (2016)

Neurologic involvement in patients with atypical Chediak-Higashi disease

著者: 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
出版年 Neurology (2017)

NT5E Mutations and Arterial Calcifications

著者: 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
出版事項 2011

The NIH Undiagnosed Diseases Program: Insights into Rare Diseases

著者: 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
出版事項 2011

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

著者: 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.
出版年 Am J Hum Genet (2019)

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

著者: 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
出版年 Genet Med (2016)