Works by Caggana, Michele

Results: 51
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    Defining the Minimal Long-Term Follow-Up Data Elements for Newborn Screening.

    Published in:
    International Journal of Neonatal Screening (IJNS), 2024, v. 10, n. 2, p. 37, doi. 10.3390/ijns10020037
    By:
    • Kellar-Guenther, Yvonne;
    • Barringer, Lauren;
    • Raboin, Katherine;
    • Nichols, Ginger;
    • Chou, Kathy Y. F.;
    • Nguyen, Kathy;
    • Burke, Amy R.;
    • Fawbush, Sandy;
    • Meyer, Joyal B.;
    • Dorsey, Morna;
    • Brower, Amy;
    • Chan, Kee;
    • Lietsch, Mei;
    • Taylor, Jennifer;
    • Caggana, Michele;
    • Sontag, Marci K.
    Publication type:
    Article
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    Missed Cystic Fibrosis Newborn Screening Cases due to Immunoreactive Trypsinogen Levels below Program Cutoffs: A National Survey of Risk Factors.

    Published in:
    International Journal of Neonatal Screening (IJNS), 2022, v. 8, n. 4, p. 58, doi. 10.3390/ijns8040058
    By:
    • Kharrazi, Martin;
    • Sacramento, Charlene;
    • Comeau, Anne Marie;
    • Hale, Jaime E.;
    • Caggana, Michele;
    • Kay, Denise M.;
    • Lee, Rachel;
    • Reilly, Brendan;
    • Thompson, John D.;
    • Nasr, Samya Z.;
    • Kleyn, Mary;
    • Hoffman, Gary;
    • Baker, Mei W.;
    • Clarke, Colleen;
    • Harris, Cheryl L.;
    • Dorley, M. Christine;
    • Fryman, Hilary;
    • Sutaria, Ankit;
    • Hietala, Amy;
    • Winslow, Holly
    Publication type:
    Article
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    A Novel Approach to Improve Newborn Screening for Congenital Hypothyroidism by Integrating Covariate-Adjusted Results of Different Tests into CLIR Customized Interpretive Tools.

    Published in:
    International Journal of Neonatal Screening (IJNS), 2021, v. 7, n. 2, p. 1, doi. 10.3390/ijns7020023
    By:
    • Rowe, Alexander D.;
    • Stoway, Stephanie D.;
    • Åhlman, Henrik;
    • Arora, Vaneet;
    • Caggana, Michele;
    • Fornari, Anna;
    • Hagar, Arthur;
    • Hall, Patricia L.;
    • Marquardt, Gregg C.;
    • Miller, Bobby J.;
    • Nixon, Christopher;
    • Norgan, Andrew P.;
    • Orsini, Joseph J.;
    • Pettersen, Rolf D.;
    • Piazza, Amy L.;
    • Schubauer, Neil R.;
    • Smith, Amy C.;
    • Hao Tang;
    • Tavakoli, Norma P.;
    • Sainan Wei
    Publication type:
    Article
    9

    Separation Characteristics of On-chip Biopolymer Membranes.

    Published in:
    Separation Science & Technology, 2007, v. 42, n. 1, p. 25, doi. 10.1080/01496390601057973
    By:
    • Mohamed, Hisham;
    • Russo, Anthony P.;
    • Szarowski, Donald H.;
    • McDonnell, Elizabeth;
    • Lepak, Lori A.;
    • Spencer, Michael G.;
    • Martin, David L.;
    • Caggana, Michele;
    • Turner, James N.
    Publication type:
    Article
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    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
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    Genomic analyses in African populations identify novel risk loci for cleft palate.

    Published in:
    Human Molecular Genetics, 2019, v. 28, n. 6, p. 1038, doi. 10.1093/hmg/ddy402
    By:
    • Butali, Azeez;
    • Mossey, Peter A;
    • Adeyemo, Wasiu L;
    • Eshete, Mekonen A;
    • Gowans, Lord J J;
    • Busch, Tamara D;
    • Jain, Deepti;
    • Yu, Wenjie;
    • Huan, Liu;
    • Laurie, Cecelia A;
    • Laurie, Cathy C;
    • Nelson, Sarah;
    • Li, Mary;
    • Sanchez-Lara, Pedro A;
    • Magee, William P;
    • Magee, Kathleen S;
    • Auslander, Allyn;
    • Brindopke, Frederick;
    • Kay, Denise M;
    • Caggana, Michele
    Publication type:
    Article
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    Newborn Screening for Severe Combined Immunodeficiency in 11 Screening Programs in the United States.

    Published in:
    JAMA: Journal of the American Medical Association, 2014, v. 312, n. 7, p. 729, doi. 10.1001/jama.2014.9132
    By:
    • Kwan, Antonia;
    • Abraham, Roshini S.;
    • Currier, Robert;
    • Brower, Amy;
    • Andruszewski, Karen;
    • Abbott, Jordan K.;
    • Baker, Mei;
    • Ballow, Mark;
    • Bartoshesky, Louis E.;
    • Bonilla, Francisco A.;
    • Brokopp, Charles;
    • Brooks, Edward;
    • Caggana, Michele;
    • Celestin, Jocelyn;
    • Church, Joseph A.;
    • Comeau, Anne Marie;
    • Connelly, James A.;
    • Cowan, Morton J.;
    • Cunningham-Rundles, Charlotte;
    • Dasu, Trivikram
    Publication type:
    Article
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    Probing the functional consequence and clinical relevance of CD320 p.E88del, a variant in the transcobalamin receptor gene.

    Published in:
    American Journal of Medical Genetics. Part A, 2022, v. 188, n. 4, p. 1124, doi. 10.1002/ajmg.a.62627
    By:
    • Pangilinan, Faith;
    • Watkins, David;
    • Bernard, David;
    • Chen, Yue;
    • Dong, Ningzheng;
    • Wu, Qingyu;
    • Ozel‐Abaan, Hatice;
    • Kaur, Manjit;
    • Caggana, Michele;
    • Morrissey, Mark;
    • Browne, Marilyn L.;
    • Mills, James L.;
    • Van Ryzin, Carol;
    • Shchelochkov, Oleg;
    • Sloan, Jennifer;
    • Venditti, Charles P.;
    • Sarafoglou, Kyriakie;
    • Rosenblatt, David S.;
    • Kay, Denise M.;
    • Brody, Lawrence C.
    Publication type:
    Article
    20

    Copy number variants in hypoplastic right heart syndrome.

    Published in:
    American Journal of Medical Genetics. Part A, 2018, v. 176, n. 12, p. 2760, doi. 10.1002/ajmg.a.40527
    By:
    • Giannakou, Andreas;
    • Sicko, Robert J.;
    • Kay, Denise M.;
    • Zhang, Wei;
    • Romitti, Paul A.;
    • Caggana, Michele;
    • Shaw, Gary M.;
    • Jelliffe‐Pawlowski, Laura L.;
    • Mills, James L.
    Publication type:
    Article
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    Rare copy number variants implicated in posterior urethral valves.

    Published in:
    American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 3, p. 622, doi. 10.1002/ajmg.a.37493
    By:
    • Boghossian, Nansi S.;
    • Sicko, Robert J.;
    • Kay, Denise M.;
    • Rigler, Shannon L.;
    • Caggana, Michele;
    • Tsai, Michael Y.;
    • Yeung, Edwina H.;
    • Pankratz, Nathan;
    • Cole, Benjamin R.;
    • Druschel, Charlotte M.;
    • Romitti, Paul A.;
    • Browne, Marilyn L.;
    • Fan, Ruzong;
    • Liu, Aiyi;
    • Brody, Lawrence C.;
    • Mills, James L.
    Publication type:
    Article
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    Population-Based Screening of Newborns: Findings From the NBS Expansion Study (Part One).

    Published in:
    Frontiers in Genetics, 2022, v. 13, p. 1, doi. 10.3389/fgene.2022.867337
    By:
    • Brower, Amy;
    • Chan, Kee;
    • Williams, Marc;
    • Berry, Susan;
    • Currier, Robert;
    • Rinaldo, Piero;
    • Caggana, Michele;
    • Gaviglio, Amy;
    • Wilcox, William;
    • Steiner, Robert;
    • Holm, Ingrid A.;
    • Taylor, Jennifer;
    • Orsini, Joseph J.;
    • Brunelli, Luca;
    • Adelberg, Joanne;
    • Bodamer, Olaf;
    • Viall, Sarah;
    • Scharfe, Curt;
    • Wasserstein, Melissa;
    • Chen, Jin Y.
    Publication type:
    Article
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    Are we prepared to deliver gene‐targeted therapies for rare diseases?

    Published in:
    American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2023, v. 193, n. 1, p. 7, doi. 10.1002/ajmg.c.32029
    By:
    • Yu, Timothy W.;
    • Kingsmore, Stephen F.;
    • Green, Robert C.;
    • MacKenzie, Tippi;
    • Wasserstein, Melissa;
    • Caggana, Michele;
    • Gold, Nina B.;
    • Kennedy, Annie;
    • Kishnani, Priya S.;
    • Might, Matthew;
    • Brooks, Phillip J.;
    • Morris, Jill A.;
    • Parisi, Melissa A.;
    • Urv, Tiina K.
    Publication type:
    Article
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    Copy number variants in Ebstein anomaly.

    Published in:
    PLoS ONE, 2017, v. 12, n. 12, p. 1, doi. 10.1371/journal.pone.0188168
    By:
    • Giannakou, Andreas;
    • Sicko, Robert J.;
    • Zhang, Wei;
    • Romitti, Paul;
    • Browne, Marilyn L.;
    • Caggana, Michele;
    • Brody, Lawrence C.;
    • Jelliffe-Pawlowski, Laura;
    • Shaw, Gary M.;
    • Kay, Denise M.;
    • Mills, James L.
    Publication type:
    Article
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    Liquid Chromatography-Tandem Mass Spectrometry Assay of Leukocyte Acid α-Glucosidase for Post-Newborn Screening Evaluation of Pompe Disease.

    Published in:
    Clinical Chemistry, 2017, v. 63, n. 4, p. 842, doi. 10.1373/clinchem.2016.259036
    By:
    • Na Lin;
    • Jingyu Huang;
    • Violante, Sara;
    • Orsini, Joseph J.;
    • Caggana, Michele;
    • Hughes, Erin E.;
    • Stevens, Colleen;
    • DiAntonio, Lisa;
    • Hsuan Chieh Liao;
    • Xinying Hong;
    • Ghomashchi, Farideh;
    • Kumar, Arun Babu;
    • Hui Zhou;
    • Kornreich, Ruth;
    • Wasserstein, Melissa;
    • Gelb, Michael H.;
    • Chunli Yu
    Publication type:
    Article
    35

    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
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    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
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    Genetic counseling access and service delivery in New York State is variable for parents of infants with complex CFTR genotypes conferring uncertain phenotypes.

    Published in:
    Pediatric Pulmonology, 2024, v. 59, n. 7, p. 1952, doi. 10.1002/ppul.27023
    By:
    • Kay, Denise M.;
    • Sadeghi, Hossein;
    • Kier, Catherine;
    • Berdella, Maria;
    • DeCelie‐Germana, Joan K.;
    • Soultan, Zafer N.;
    • Goetz, Danielle M.;
    • Caggana, Michele;
    • Fortner, Christopher N.;
    • Giusti, Robert;
    • Kaslovsky, Robert;
    • Stevens, Colleen;
    • Voter, Karen;
    • Welter, John J.;
    • Langfelder‐Schwind, Elinor
    Publication type:
    Article
    45

    Variability in evaluation and follow‐up of newborns with CRMS/CFSPID in New York State.

    Published in:
    Pediatric Pulmonology, 2024, v. 59, n. 5, p. 1511, doi. 10.1002/ppul.26928
    By:
    • Kier, Catherine;
    • Kay, Denise M.;
    • Langfelder‐Schwind, Elinor;
    • Goetz, Danielle M.;
    • Berdella, Maria;
    • DeCelie‐Germana, Joan K.;
    • Soultan, Zafer N.;
    • Caggana, Michele;
    • Fortner, Christopher N.;
    • Giusti, Robert;
    • Kaslovsky, Robert;
    • Voter, Karen;
    • Welter, John J.;
    • Sadeghi, Hossein
    Publication type:
    Article
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    Fragile X protein in newborn dried blood spots.

    Published in:
    BMC Medical Genetics, 2014, v. 15, n. 1, p. 2, doi. 10.1186/s12881-014-0119-0
    By:
    • Adayev, Tatyana;
    • LaFauci, Giuseppe;
    • Dobkin, Carl;
    • Caggana, Michele;
    • Wiley, Veronica;
    • Field, Michael;
    • Wotton, Tiffany;
    • Kascsak, Richard;
    • Nolin, Sarah L.;
    • Glicksman, Anne;
    • Hosmer, Nicole;
    • Ted Brown, W.
    Publication type:
    Article