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Screening for cystic fibrosis in New York State: considerations for algorithm improvements.
Published in:
2016
By:
- Kay, Denise;
- Maloney, Breanne;
- Hamel, Rhonda;
- Pearce, Melissa;
- DeMartino, Lenore;
- McMahon, Rebecca;
- McGrath, Emily;
- Krein, Lea;
- Vogel, Beth;
- Saavedra-Matiz, Carlos;
- Caggana, Michele;
- Tavakoli, Norma;
- Kay, Denise M;
- Saavedra-Matiz, Carlos A;
- Tavakoli, Norma P
Publication type:
journal article
Utility of a very high IRT/No mutation referral category in cystic fibrosis newborn screening.
Published in:
Pediatric Pulmonology, 2015, v. 50, n. 8, p. 771, doi. 10.1002/ppul.23222
By:
- Kay, Denise M.;
- Langfelder-Schwind, Elinor;
- DeCelie-Germana, Joan;
- Sharp, Jack K.;
- Maloney, Breanne;
- Tavakoli, Norma P.;
- Saavedra-Matiz, Carlos A.;
- Krein, Lea M.;
- Caggana, Michele;
- Kier, Catherine
Publication type:
Article
Newborn screening for Krabbe's disease.
Published in:
Journal of Neuroscience Research, 2016, v. 94, n. 11, p. 1063, doi. 10.1002/jnr.23781
By:
- Orsini, Joseph J.;
- Saavedra‐Matiz, Carlos A.;
- Gelb, Michael H.;
- Caggana, Michele
Publication type:
Article
Expression of individual mutations and haplotypes in the galactocerebrosidase gene identified by the newborn screening program in New York State and in confirmed cases of Krabbe's disease.
Published in:
Journal of Neuroscience Research, 2016, v. 94, n. 11, p. 1076, doi. 10.1002/jnr.23905
By:
- Saavedra‐Matiz, Carlos A.;
- Luzi, Paola;
- Nichols, Matthew;
- Orsini, Joseph J.;
- Caggana, Michele;
- Wenger, David A.
Publication type:
Article
Early progression of Krabbe disease in patients with symptom onset between 0 and 5 months.
Published in:
2019
By:
- Beltran-Quintero, Maria L.;
- Bascou, Nicholas A.;
- Poe, Michele D.;
- Wenger, David A.;
- Saavedra-Matiz, Carlos A.;
- Nichols, Matthew J.;
- Escolar, Maria L.
Publication type:
journal article
Cost-Effective and Scalable DNA Extraction Method from Dried Blood Spots.
Published in:
Clinical Chemistry, 2013, v. 59, n. 7, p. 1045, doi. 10.1373/clinchem.2012.198945
By:
- Saavedra-Matiz, Carlos A.;
- Isabelle, Jason T.;
- Biski, Chad K.;
- Duva, Salvatore J.;
- Sweeney, Melissa L.;
- Parker, April L.;
- Young, Allison J.;
- DiAntonio, Lisa L.;
- Krein, Lea M.;
- Nichols, Matthew J.;
- Caggana, Michele
Publication type:
Article
Newborn Screening for SCID in New York State: Experience from the First Two Years.
Published in:
Journal of Clinical Immunology, 2014, v. 34, n. 3, p. 289, doi. 10.1007/s10875-014-0006-7
By:
- Vogel, Beth;
- Bonagura, Vincent;
- Weinberg, Geoffrey;
- Ballow, Mark;
- Isabelle, Jason;
- DiAntonio, Lisa;
- Parker, April;
- Young, Allison;
- Cunningham-Rundles, Charlotte;
- Fong, Chin-To;
- Celestin, Jocelyn;
- Lehman, Heather;
- Rubinstein, Arye;
- Siegel, Subhadra;
- Weiner, Leonard;
- Saavedra-Matiz, Carlos;
- Kay, Denise;
- Caggana, Michele
Publication type:
Article
Validation of a Custom Next-Generation Sequencing Assay for Cystic Fibrosis Newborn Screening.
Published in:
International Journal of Neonatal Screening (IJNS), 2021, v. 7, n. 4, p. 73, doi. 10.3390/ijns7040073
By:
- Sicko, Robert J.;
- Stevens, Colleen F.;
- Hughes, Erin E.;
- Leisner, Melissa;
- Ling, Helen;
- Saavedra-Matiz, Carlos A.;
- Caggana, Michele;
- Kay, Denise M.
Publication type:
Article
Low Psychosine in Krabbe Disease with Onset in Late Infancy: A Case Report.
Published in:
International Journal of Neonatal Screening (IJNS), 2021, v. 7, n. 2, p. 1, doi. 10.3390/ijns7020028
By:
- Corre, Camille S.;
- Matern, Dietrich;
- Pellegrino, Joan E.;
- Saavedra-Matiz, Carlos A.;
- Orsini, Joseph J.;
- Thompson-Stone, Robert
Publication type:
Article
Clinical Sensitivity of Cystic Fibrosis Mutation Panels in a Diverse Population.
Published in:
Human Mutation, 2016, v. 37, n. 2, p. 201, doi. 10.1002/humu.22927
By:
- Hughes, Erin E.;
- Stevens, Colleen F.;
- Saavedra‐Matiz, Carlos A.;
- Tavakoli, Norma P.;
- Krein, Lea M.;
- Parker, April;
- Zhang, Zhen;
- Maloney, Breanne;
- Vogel, Beth;
- DeCelie‐Germana, Joan;
- Kier, Catherine;
- Anbar, Ran D.;
- Berdella, Maria N.;
- Comber, Paul G.;
- Dozor, Allen J.;
- Goetz, Danielle M.;
- Guida, Louis;
- Kattan, Meyer;
- Ting, Andrew;
- Voter, Karen Z.
Publication type:
Article
A missense mutation in the desmin rod domain is associated with autosomal dominant distal myopathy, and exerts a dominant negative effect on filament formation.
Published in:
Human Molecular Genetics, 1999, v. 8, n. 12, p. 2191, doi. 10.1093/hmg/8.12.2191
By:
- Sjoberg, Gunnar;
- Saavedra-Matiz, Carlos A.;
- Rosen, Daniel R.;
- Wijsman, Ellen M.;
- Borg, Kristian;
- Horowitz, Steven H.;
- Sejersen, Thomas
Publication type:
Article
Linkage of Hereditary Distal Myopathy with Desmin Accumulation to 2q.
Published in:
Human Heredity, 2000, v. 50, n. 3, p. 166, doi. 10.1159/000022908
By:
- Saavedra-Matiz, Carlos A.;
- Chapman, Nicola H.;
- Wijsman, Ellen M.;
- Horowitz, Steven H.;
- Rosen, Daniel R.
Publication type:
Article
Analysis of age-related changes in psychosine metabolism in the human brain.
Published in:
PLoS ONE, 2018, v. 13, n. 2, p. 1, doi. 10.1371/journal.pone.0193438
By:
- Marshall, Michael S.;
- Jakubauskas, Benas;
- Bogue, Wil;
- Stoskute, Monika;
- Hauck, Zane;
- Rue, Emily;
- Nichols, Matthew;
- DiAntonio, Lisa L.;
- van Breemen, Richard B.;
- Kordower, Jeffrey H.;
- Saavedra-Matiz, Carlos A.;
- Bongarzone, Ernesto R.
Publication type:
Article

Found: 13