Newborn screening for X-linked adrenoleukodystrophy in New York State: Diagnostic protocol, surveillance protocol and treatment guidelines
Vogel, B.H., Bradley, S.E., Adams, D.J., D'Aco, K., Erbe, R.W., Fong, C., Iglesias, A., Kronn, D., Levy, P., Morrissey, M., Orsini, J., Parton, P., Pellegrino, J., Saavedra-Matiz, C.A., Shur, N., Wasserstein, M., Raymond, G.V., Caggana, M.
Published in Molecular genetics and metabolism (01.04.2015)
Published in Molecular genetics and metabolism (01.04.2015)
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Krabbe disease: Clinical, biochemical and molecular information on six new patients and successful retrospective diagnosis using stored newborn screening cards
Puckett, R.L., Orsini, J.J., Pastores, G.M., Wang, R.Y., Chang, R., Saavedra-Matiz, C.A., Torres, P.A., Zeng, B., Caggana, M., Lorey, F., Abdenur, J.E.
Published in Molecular genetics and metabolism (01.01.2012)
Published in Molecular genetics and metabolism (01.01.2012)
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Newborn screening for Tyr-I: Two years' experience of the New York State program
Morrissey, M.A., Sunny, S., Fahim, A., Lubowski, C., Caggana, M.
Published in Molecular genetics and metabolism (01.06.2011)
Published in Molecular genetics and metabolism (01.06.2011)
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Journal Article
Evolution of an influenza pandemic in 13 countries from 5 continents monitored by protein microarray from neonatal screening bloodspots
de Bruin, E, Loeber, J.G, Meijer, A, Castillo, G. Martinez, Cepeda, M.L. Granados, Torres-Sepúlveda, M. Rosario, Borrajo, G.J.C, Caggana, M, Giguere, Y, Meyer, M, Fukushi, M, Devi, A.R. Rama, Khneisser, I, Vilarinho, L, von Döbeln, U, Torresani, T, Mackenzie, J, Zutt, I, Schipper, M, Elvers, L.H, Koopmans, M.P.G
Published in Journal of clinical virology (01.09.2014)
Published in Journal of clinical virology (01.09.2014)
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Journal Article
Estimate of the frequency of Wilson's disease in the US Caucasian population: a mutation analysis approach
OLIVAREZ, L., CAGGANA, M., PASS, K. A., FERGUSON, P., BREWER, G. J.
Published in Annals of human genetics (01.09.2001)
Published in Annals of human genetics (01.09.2001)
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Journal Article
592 Evolution of the New York State cystic fibrosis newborn screening algorithm through continued collaboration with accredited cystic fibrosis centers: 20-year experience
Kay, D., DeCelie-Germana, J., Langfelder-Schwind, E., Goetz, D., Berdella, M., Soultan, Z., Dozor, A., Fortner, C., Giusti, R., Kaslovsky, R., Voter, K., Welter, J., Caggana, M., Kier, C., Sadeghi, H.
Published in Journal of cystic fibrosis (01.10.2023)
Published in Journal of cystic fibrosis (01.10.2023)
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Journal Article
EPS7.03 Variability in evaluation and follow-up of newborns with CFSPID/CRMS In New York State Cystic Fibrosis Specialty Care Centres
Sadeghi, H., Kier, C., Kay, D., Langfelder-Schwind, E., Berdella, M., DeCelie-Germana, J., Soultan, Z., Goetz, D., Caggana, M., Dozor, A., Fortner, C., Giusti, R., Kaslovsky, R., Stevens, C., Voter, K., Welter, J.
Published in Journal of cystic fibrosis (01.06.2023)
Published in Journal of cystic fibrosis (01.06.2023)
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376 Engaging genetic counselors at cystic fibrosis specialty care centers through a statewide network
Close, C., Calamaro, E., Berdella, M., DeCelie-Germana, J., Fortner, C., Guisti, R., Goetz, D., Kaslovsky, R., Catherine, K., Powers, K., Sadeghi, H., Soultan, Z., Voter, K., Welter, J., Byler, M., Chandy, N., Cortez, L., Lundberg, J., Sam, A., Wilber, J., Caggana, M., Kay, D., Langfelder-Schwind, E.
Published in Journal of cystic fibrosis (01.09.2024)
Published in Journal of cystic fibrosis (01.09.2024)
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32 Characteristics of 225 infants with cystic fibrosis screen positive, inconclusive diagnosis and cystic fibrosis transmembrane conductance regulator–related metabolic syndrome identified in New York State over a 3-year period
Kier, C., Sadeghi, H., Kay, D., Langfelder-Schwind, E., Berdella, M., Joan, D., Soultan, Z., Caggana, M., Dozor, A., Fortner, C., Giusti, R., Goetz, D., Kaslovsky, R., Stevens, C., Voter, K., Welter, J.
Published in Journal of cystic fibrosis (01.10.2022)
Published in Journal of cystic fibrosis (01.10.2022)
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151 Variable genetic counseling access and services for parents of infants who screen positive for cystic fibrosis in New York State
Langfelder-Schwind, E., Kay, D., Berdella, M., Joan, D., Soultan, Z., Dozor, A., Fortner, C., Giusti, R., Goetz, D., Kaslovsky, R., Voter, K., Welter, J., Caggana, M., Sadeghi, H., Kier, C.
Published in Journal of cystic fibrosis (01.10.2022)
Published in Journal of cystic fibrosis (01.10.2022)
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Journal Article
Identification of a New Human CYP2A Gene Fragment with Close Linkage to CYP2GP1
Sheng, J, Hua, Z, Guo, J, Caggana, M, Ding, X
Published in Drug metabolism and disposition (01.01.2001)
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Published in Drug metabolism and disposition (01.01.2001)
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Genome-wide meta-analysis identifies BARX1 and EML4-MTA3 as new loci associated with infantile hypertrophic pyloric stenosis
Fadista, João, Skotte, Line, Geller, Frank, Bybjerg-Grauholm, Jonas, Gørtz, Sanne, Romitti, Paul A, Caggana, Michele, Kay, Denise M, Matsson, Hans, Boyd, Heather A, Hougaard, David M, Nordenskjöld, Agneta, Mills, James L, Melbye, Mads, Feenstra, Bjarke
Published in Human molecular genetics (15.01.2019)
Published in Human molecular genetics (15.01.2019)
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Journal Article
Estimate of the frequency of Wilson's disease in the US Caucasian population: a mutation analysis approach
OLIVAREZ, L., CAGGANA, M., PASS, K. A., FERGUSON, P., BREWER, G. J.
Published in Annals of human genetics (01.09.2001)
Published in Annals of human genetics (01.09.2001)
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Journal Article
Sickle cell disease incidence among newborns in New York State by maternal race/ethnicity and nativity
Wang, Ying, Kennedy, Joseph, Caggana, Michele, Zimmerman, Regina, Thomas, Sanil, Berninger, John, Harris, Katharine, Green, Nancy S., Oyeku, Suzette, Hulihan, Mary, Grant, Althea M., Grosse, Scott D
Published in Genetics in medicine (01.03.2013)
Published in Genetics in medicine (01.03.2013)
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Plasma Lipids, Genetic Variants Near APOA1, and the Risk of Infantile Hypertrophic Pyloric Stenosis
Feenstra, Bjarke, Geller, Frank, Carstensen, Lisbeth, Romitti, Paul A, Körberg, Izabella Baranowska, Bedell, Bruce, Krogh, Camilla, Fan, Ruzong, Svenningsson, Anna, Caggana, Michele, Nordenskjöld, Agneta, Mills, James L, Murray, Jeffrey C, Melbye, Mads
Published in JAMA : the journal of the American Medical Association (21.08.2013)
Published in JAMA : the journal of the American Medical Association (21.08.2013)
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