Search Results - "Nguyen, Joanne M."

Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures by Petrovski, Slavé, Küry, Sébastien, Myers, Candace T., Anyane-Yeboa, Kwame, Cogné, Benjamin, Bialer, Martin, Xia, Fan, Hemati, Parisa, Riviello, James, Mehaffey, Michele, Besnard, Thomas, Becraft, Emily, Wadley, Alexandrea, Politi, Anya Revah, Colombo, Sophie, Zhu, Xiaolin, Ren, Zhong, Andrews, Ian, Dudding-Byth, Tracy, Schneider, Amy L., Wallace, Geoffrey, Rosen, Aaron B.I., Schelley, Susan, Enns, Gregory M., Corre, Pierre, Dalton, Joline, Mercier, Sandra, Latypova, Xénia, Schmitt, Sébastien, Guzman, Edwin, Moore, Christine, Bier, Louise, Heinzen, Erin L., Karachunski, Peter, Shur, Natasha, Grebe, Theresa, Basinger, Alice, Nguyen, Joanne M., Bézieau, Stéphane, Wierenga, Klaas, Bernstein, Jonathan A., Scheffer, Ingrid E., Rosenfeld, Jill A., Mefford, Heather C., Isidor, Bertrand, Goldstein, David B.

“…Whole-exome sequencing of 13 individuals with developmental delay commonly accompanied by abnormal muscle tone and seizures identified de novo missense…”
Get full text

5p deletions: Current knowledge and future directions by Nguyen, Joanne M., Qualmann, Krista J., Okashah, Rebecca, Reilly, AmySue, Alexeyev, Mikhail F., Campbell, Dennis J.

“…Disorders resulting from 5p deletions (5p−) were first recognized by Lejeune et al. in 1963 [Lejeune et al. (1963); C R Hebd Seances Acad Sci 257:3098–3102]…”
Get full text

Classification of isolated versus multiple birth defects: An automated process for population‐based registries by Benjamin, Renata H., Nguyen, Joanne M., Drummond‐Borg, Margaret, Scheuerle, Angela E., Langlois, Peter H., Canfield, Mark A., Shumate, Charles J., Mitchell, Laura E., Agopian, A. J.

“…Epidemiologic studies of birth defects often conduct separate analyses for cases that have isolated defects (e.g., spina bifida only) and cases that have…”
Get full text

Identifying syndromes in studies of structural birth defects: Guidance on classification and evaluation of potential impact by Benjamin, Renata H., Mitchell, Laura E., Scheuerle, Angela E., Langlois, Peter H., Canfield, Mark A., Drummond‐Borg, Margaret, Nguyen, Joanne M., Agopian, A. J.

“…Structural birth defects that occur in infants with syndromes may be etiologically distinct from those that occur in infants in whom there is not a recognized…”
Get full text

Survival of neonates, infants, and children with birth defects: a population-based study in Texas, 1999–2018 by Benjamin, Renata H., Nguyen, Joanne M., Canfield, Mark A., Shumate, Charles J., Agopian, A.J.

“…Birth defects are a leading cause of neonatal, infant, and childhood mortality, but recent population-based survival estimates for a spectrum in the U.S. are…”
Get full text

Attitudes of Individuals with Gaucher Disease toward Substrate Reduction Therapies by Wagner, Victoria F., Northrup, Hope, Hashmi, S. Shahrukh, Nguyen, Joanne M., Koenig, Mary Kay, Davis, Jessica M.

“…Type 1 Gaucher disease (GD) is the most common lysosomal storage disorder. Previously, treatment for GD was limited to intravenous enzyme replacement therapies…”
Get full text

Survival of neonates, infants, and children with birth defects: a population-based study in Texas, 1999–2018Research in context by Renata H. Benjamin, Joanne M. Nguyen, Mark A. Canfield, Charles J. Shumate, A.J. Agopian

“…Background: Birth defects are a leading cause of neonatal, infant, and childhood mortality, but recent population-based survival estimates for a spectrum in…”
Get full text