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)

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

Por Yao, Michael D., von Rosenvinge, Erik C., Groden, Catherine, Mannon, Peter J.
Publicado no Gastrointest Endosc (2009)

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

Por Lehky, Tanya J., Groden, Catherine, Lear, Barbara, Toro, Camilo, Introne, Wendy J.
Publicado no Muscle Nerve (2016)

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

Por Ferreira, Carlos R., Ziegler, Shira G., Gupta, Ashutosh, Groden, Catherine, Hsu, Kevin S., Gahl, William A.
Publicado no Am J Med Genet A (2016)

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

Por Li, Howard J., Groden, Catherine, Hoenig, Melanie P., Ray, Evan C., Ferreira, Carlos R., Gahl, Willam, Novacic, Danica
Publicado no BMC Nephrol (2019)

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

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

Clinical course and prognosis in patients with Gaucher disease and parkinsonism

Por 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
Publicado no Neurol Genet (2016)

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

Por 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.
Publicado no Mol Genet Metab (2020)

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

Por 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
Publicado no J Med Genet (2019)

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

Por 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.
Publicado em 2012

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

Por 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
Publicado no Neurol Genet (2018)

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

Por 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.
Publicado em 2014

Neurologic involvement in patients with atypical Chediak-Higashi disease

Por 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
Publicado no Neurology (2016)

Neurologic involvement in patients with atypical Chediak-Higashi disease

Por 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
Publicado no Neurology (2017)

NT5E Mutations and Arterial Calcifications

Por 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
Publicado em 2011

The NIH Undiagnosed Diseases Program: Insights into Rare Diseases

Por 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
Publicado em 2011

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

Por 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.
Publicado no Am J Hum Genet (2019)

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

Por 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
Publicado no Genet Med (2016)

Defining Disease, Diagnosis, and Translational Medicine within a Homeostatic Perturbation Paradigm: The National Institutes of Health Undiagnosed Diseases Program Experience

Por Gall, Timothy, Valkanas, Elise, Bello, Christofer, Markello, Thomas, Adams, Christopher, Bone, William P., Brandt, Alexander J., Brazill, Jennifer M., Carmichael, Lynn, Davids, Mariska, Davis, Joie, Diaz-Perez, Zoraida, Draper, David, Elson, Jeremy, Flynn, Elise D., Godfrey, Rena, Groden, Catherine, Hsieh, Cheng-Kang, Fischer, Roxanne, Golas, Gretchen A., Guzman, Jessica, Huang, Yan, Kane, Megan S., Lee, Elizabeth, Li, Chong, Links, Amanda E., Maduro, Valerie, Malicdan, May Christine V., Malik, Fayeza S., Nehrebecky, Michele, Park, Joun, Pemberton, Paul, Schaffer, Katherine, Simeonov, Dimitre, Sincan, Murat, Smedley, Damian, Valivullah, Zaheer, Wahl, Colleen, Washington, Nicole, Wolfe, Lynne A., Xu, Karen, Zhu, Yi, Gahl, William A., Tifft, Cynthia J., Toro, Camillo, Adams, David R., He, Miao, Robinson, Peter N., Haendel, Melissa A., Zhai, R. Grace, Boerkoel, Cornelius F.
Publicado no Front Med (Lausanne) (2017)