NGLY1 deficiency: estimated incidence, clinical features, and genotypic spectrum from the NGLY1 Registry

por Stanclift, Caroline R., Dwight, Selina S., Lee, Kevin, Eijkenboom, Quirine L., Wilsey, Matt, Wilsey, Kristen, Kobayashi, Erica Sanford, Tong, Sandra, Bainbridge, Matthew N.
Publicado 2022

AAV9-NGLY1 gene replacement therapy improves phenotypic and biomarker endpoints in a rat model of NGLY1 Deficiency

por Zhu, Lei, Tan, Brandon, Dwight, Selina S., Beahm, Brendan, Wilsey, Matt, Crawford, Brett E., Schweighardt, Becky, Cook, Jennifer W., Wechsler, Thomas, Mueller, William F.
Publicado 2022

GlcNAc-Asn is a biomarker for NGLY1 deficiency

por Mueller, William F, Zhu, Lei, Tan, Brandon, Dwight, Selina, Beahm, Brendan, Wilsey, Matt, Wechsler, Thomas, Mak, Justin, Cowan, Tina, Pritchett, Jake, Taylor, Eric, Crawford, Brett E
Publicado 2021

NGLY1 deficiency: a prospective natural history study

por Tong, Sandra, Ventola, Pamela, Frater, Christina H, Klotz, Jenna, Phillips, Jennifer M, Muppidi, Srikanth, Dwight, Selina S, Mueller, William F, Beahm, Brendan J, Wilsey, Matt, Lee, Kevin J
Publicado 2023

The Reference Genome Sequence of Saccharomyces cerevisiae: Then and Now

por Engel, Stacia R., Dietrich, Fred S., Fisk, Dianna G., Binkley, Gail, Balakrishnan, Rama, Costanzo, Maria C., Dwight, Selina S., Hitz, Benjamin C., Karra, Kalpana, Nash, Robert S., Weng, Shuai, Wong, Edith D., Lloyd, Paul, Skrzypek, Marek S., Miyasato, Stuart R., Simison, Matt, Cherry, J. Michael
Publicado 2013

The complex portal - an encyclopaedia of macromolecular complexes

por Meldal, Birgit H.M., Forner-Martinez, Oscar, Costanzo, Maria C., Dana, Jose, Demeter, Janos, Dumousseau, Marine, Dwight, Selina S., Gaulton, Anna, Licata, Luana, Melidoni, Anna N., Ricard-Blum, Sylvie, Roechert, Bernd, Skyzypek, Marek S., Tiwari, Manu, Velankar, Sameer, Wong, Edith D., Hermjakob, Henning, Orchard, Sandra
Publicado 2014

ClinGen Allele Registry links information about genetic variants

por Pawliczek, Piotr, Patel, Ronak Y., Ashmore, Lillian R., Jackson, Andrew R., Bizon, Chris, Nelson, Tristan, Powell, Bradford, Freimuth, Robert R., Strande, Natasha, Shah, Neethu, Paithankar, Sameer, Wright, Matt W., Dwight, Selina, Zhen, Jimmy, Landrum, Melissa, McGarvey, Peter, Babb, Larry, Plon, Sharon E., Milosavljevic, Aleksandar
Publicado 2018

Fungal BLAST and Model Organism BLASTP Best Hits: new comparison resources at the Saccharomyces Genome Database (SGD)

por Balakrishnan, Rama, Christie, Karen R., Costanzo, Maria C., Dolinski, Kara, Dwight, Selina S., Engel, Stacia R., Fisk, Dianna G., Hirschman, Jodi E., Hong, Eurie L., Nash, Robert, Oughtred, Rose, Skrzypek, Marek, Theesfeld, Chandra L., Binkley, Gail, Dong, Qing, Lane, Christopher, Sethuraman, Anand, Weng, Shuai, Botstein, David, Cherry, J. Michael
Publicado 2005

Saccharomyces Genome Database provides mutant phenotype data

por Engel, Stacia R., Balakrishnan, Rama, Binkley, Gail, Christie, Karen R., Costanzo, Maria C., Dwight, Selina S., Fisk, Dianna G., Hirschman, Jodi E., Hitz, Benjamin C., Hong, Eurie L., Krieger, Cynthia J., Livstone, Michael S., Miyasato, Stuart R., Nash, Robert, Oughtred, Rose, Park, Julie, Skrzypek, Marek S., Weng, Shuai, Wong, Edith D., Dolinski, Kara, Botstein, David, Cherry, J. Michael
Publicado 2010

Saccharomyces Genome Database: the genomics resource of budding yeast

por Cherry, J. Michael, Hong, Eurie L., Amundsen, Craig, Balakrishnan, Rama, Binkley, Gail, Chan, Esther T., Christie, Karen R., Costanzo, Maria C., Dwight, Selina S., Engel, Stacia R., Fisk, Dianna G., Hirschman, Jodi E., Hitz, Benjamin C., Karra, Kalpana, Krieger, Cynthia J., Miyasato, Stuart R., Nash, Rob S., Park, Julie, Skrzypek, Marek S., Simison, Matt, Weng, Shuai, Wong, Edith D.
Publicado 2012

Expanded protein information at SGD: new pages and proteome browser

por Nash, Robert, Weng, Shuai, Hitz, Ben, Balakrishnan, Rama, Christie, Karen R., Costanzo, Maria C., Dwight, Selina S., Engel, Stacia R., Fisk, Dianna G., Hirschman, Jodi E., Hong, Eurie L., Livstone, Michael S., Oughtred, Rose, Park, Julie, Skrzypek, Marek, Theesfeld, Chandra L., Binkley, Gail, Dong, Qing, Lane, Christopher, Miyasato, Stuart, Sethuraman, Anand, Schroeder, Mark, Dolinski, Kara, Botstein, David, Cherry, J. Michael
Publicado 2007

Gene Ontology annotations at SGD: new data sources and annotation methods

por Hong, Eurie L., Balakrishnan, Rama, Dong, Qing, Christie, Karen R., Park, Julie, Binkley, Gail, Costanzo, Maria C., Dwight, Selina S., Engel, Stacia R., Fisk, Dianna G., Hirschman, Jodi E., Hitz, Benjamin C., Krieger, Cynthia J., Livstone, Michael S., Miyasato, Stuart R., Nash, Robert S., Oughtred, Rose, Skrzypek, Marek S., Weng, Shuai, Wong, Edith D., Zhu, Kathy K., Dolinski, Kara, Botstein, David, Cherry, J. Michael
Publicado 2008

Genome Snapshot: a new resource at the Saccharomyces Genome Database (SGD) presenting an overview of the Saccharomyces cerevisiae genome

por Hirschman, Jodi E., Balakrishnan, Rama, Christie, Karen R., Costanzo, Maria C., Dwight, Selina S., Engel, Stacia R., Fisk, Dianna G., Hong, Eurie L., Livstone, Michael S., Nash, Robert, Park, Julie, Oughtred, Rose, Skrzypek, Marek, Starr, Barry, Theesfeld, Chandra L., Williams, Jennifer, Andrada, Rey, Binkley, Gail, Dong, Qing, Lane, Christopher, Miyasato, Stuart, Sethuraman, Anand, Schroeder, Mark, Thanawala, Mayank K., Weng, Shuai, Dolinski, Kara, Botstein, David, Cherry, J. Michael
Publicado 2006

ClinGen Variant Curation Interface: a variant classification platform for the application of evidence criteria from ACMG/AMP guidelines

por Preston, Christine G., Wright, Matt W., Madhavrao, Rao, Harrison, Steven M., Goldstein, Jennifer L., Luo, Xi, Wand, Hannah, Wulf, Bryan, Cheung, Gloria, Mandell, Mark E., Tong, Howard, Cheng, Shaung, Iacocca, Michael A., Pineda, Arturo Lopez, Popejoy, Alice B., Dalton, Karen, Zhen, Jimmy, Dwight, Selina S., Babb, Lawrence, DiStefano, Marina, O’Daniel, Julianne M., Lee, Kristy, Riggs, Erin R., Zastrow, Diane B., Mester, Jessica L., Ritter, Deborah I., Patel, Ronak Y., Subramanian, Sai Lakshmi, Milosavljevic, Aleksander, Berg, Jonathan S., Rehm, Heidi L., Plon, Sharon E., Cherry, J. Michael, Bustamante, Carlos D., Costa, Helio A.
Publicado 2022