Works matching AU Kay, Denise M.

Results: 42
    1

    Exome Sequencing to Identify Novel Susceptibility Genes for Nonsyndromic Split‐Hand/Ft Malformation: A Report From the National Birth Defects Prevention Study.

    Published in:
    Birth Defects Research, 2025, v. 117, n. 5, p. 1, doi. 10.1002/bdr2.2472
    By:
    • Carter, Tonia C.;
    • Kay, Denise M.;
    • Pangilinan, Faith;
    • Almli, Lynn M.;
    • Jenkins, Mary M.;
    • Blue, Elizabeth E.;
    • Sok, Pagna;
    • White, Janson J.;
    • Cunniff, Christopher M.;
    • Agopian, A. J.;
    • Bamshad, Michael J.;
    • Botto, Lorenzo D.;
    • Brody, Lawrence C.;
    • Gucsavas‐Calikoglu, Muge;
    • Chong, Jessica X.;
    • Gomez‐Acevedo, Horacio;
    • Lupo, Philip J.;
    • Moore, Cynthia A.;
    • Nembhard, Wendy N.;
    • Olney, Richard S.
    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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    Whole Exome Sequencing in Patients With Ectopic Posterior Pituitary.

    Published in:
    Journal of the Endocrine Society, 2022, v. 6, n. 10, p. 1, doi. 10.1210/jendso/bvac116
    By:
    • Silva, Tatiane S;
    • Faucz, Fabio R;
    • Hernández-Ramírez, Laura C;
    • Pankratz, Nathan;
    • Lane, John;
    • Kay, Denise M;
    • Lyra, Arthur;
    • Kochi, Cristiane;
    • Stratakis, Constantine A;
    • Longui, Carlos A;
    • Mills, James L
    Publication type:
    Article
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    Lack of evidence for an association between UCHL1 S18Y and Parkinson’s disease.

    Published in:
    European Journal of Neurology, 2008, v. 15, n. 2, p. 134, doi. 10.1111/j.1468-1331.2007.02012.x
    By:
    • Hutter, Carolyn M.;
    • Samii, Ali;
    • Factor, Stewart A.;
    • Nutt, John G.;
    • Higgins, Donald S.;
    • Bird, Thomas D.;
    • Griffith, Alida;
    • Roberts, John W.;
    • Leis, Berta C.;
    • Montimurro, Jennifer S.;
    • Kay, Denise M.;
    • Edwards, Karen L.;
    • Payami, Haydeh;
    • Zabetian, Cyrus P.
    Publication type:
    Article
    8

    Common genetic variation in the HLA region is associated with late-onset sporadic Parkinson's disease.

    Published in:
    Nature Genetics, 2010, v. 42, n. 9, p. 781, doi. 10.1038/ng.642
    By:
    • Hamza, Taye H.;
    • Zabetian, Cyrus P.;
    • Tenesa, Albert;
    • Laederach, Alain;
    • Montimurro, Jennifer;
    • Yearout, Dora;
    • Kay, Denise M.;
    • Doheny, Kimberly F.;
    • Paschall, Justin;
    • Pugh, Elizabeth;
    • Kusel, Victoria I.;
    • Collura, Randall;
    • Roberts, John;
    • Griffith, Alida;
    • Samii, Ali;
    • Scott, William K.;
    • Nutt, John;
    • Factor, Stewart A.;
    • Payami, Haydeh
    Publication type:
    Article
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    Combined effects of smoking, coffee, and NSAIDs on Parkinson's disease risk.

    Published in:
    Movement Disorders, 2008, v. 23, n. 1, p. 88, doi. 10.1002/mds.21782
    By:
    • Powers, Karen M.;
    • Kay, Denise M.;
    • Factor, Stewart A.;
    • Zabetian, Cyrus P.;
    • Higgins, Donald S.;
    • Samii, Ali;
    • Nutt, John G.;
    • Griffith, Alida;
    • Leis, Berta;
    • Roberts, John W.;
    • Martinez, Erica D.;
    • Montimurro, Jennifer S.;
    • Checkoway, Harvey;
    • Payami, Haydeh
    Publication type:
    Article
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    Expanded Newborn Screening Using Genome Sequencing for Early Actionable Conditions.

    Published in:
    JAMA: Journal of the American Medical Association, 2025, v. 333, n. 3, p. 232, doi. 10.1001/jama.2024.19662
    By:
    • Ziegler, Alban;
    • Koval-Burt, Carrie;
    • Kay, Denise M.;
    • Suchy, Sharon F.;
    • Begtrup, Amber;
    • Langley, Katherine G.;
    • Hernan, Rebecca;
    • Amendola, Laura M.;
    • Boyd, Brenna M.;
    • Bradley, Jennifer;
    • Brandt, Tracy;
    • Cohen, Lilian L.;
    • Coffey, Alison J.;
    • Devaney, Joseph M.;
    • Dygulska, Beata;
    • Friedman, Bethany;
    • Fuleihan, Ramsay L.;
    • Gyimah, Awura;
    • Hahn, Sihoun;
    • Hofherr, Sean
    Publication type:
    Article
    15
    16

    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
    17
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    Exome‐wide assessment of isolated biliary atresia: A report from the National Birth Defects Prevention Study using child–parent trios and a case–control design to identify novel rare variants.

    Published in:
    American Journal of Medical Genetics. Part A, 2023, v. 191, n. 6, p. 1546, doi. 10.1002/ajmg.a.63185
    By:
    • Sok, Pagna;
    • Sabo, Aniko;
    • Almli, Lynn M.;
    • Jenkins, Mary M.;
    • Nembhard, Wendy N.;
    • Agopian, A. J.;
    • Bamshad, Michael J.;
    • Blue, Elizabeth E.;
    • Brody, Lawrence C.;
    • Brown, Austin L.;
    • Browne, Marilyn L.;
    • Canfield, Mark A.;
    • Carmichael, Suzan L.;
    • Chong, Jessica X.;
    • Dugan‐Perez, Shannon;
    • Feldkamp, Marcia L.;
    • Finnell, Richard H.;
    • Gibbs, Richard A.;
    • Kay, Denise M.;
    • Lei, Yunping
    Publication type:
    Article
    19

    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

    Exome sequencing of child–parent trios with bladder exstrophy: Findings in 26 children.

    Published in:
    American Journal of Medical Genetics. Part A, 2021, v. 185, n. 10, p. 3028, doi. 10.1002/ajmg.a.62439
    By:
    • Pitsava, Georgia;
    • Feldkamp, Marcia L.;
    • Pankratz, Nathan;
    • Lane, John;
    • Kay, Denise M.;
    • Conway, Kristin M.;
    • Shaw, Gary M.;
    • Reefhuis, Jennita;
    • Jenkins, Mary M.;
    • Almli, Lynn M.;
    • Olshan, Andrew F.;
    • Pangilinan, Faith;
    • Brody, Lawrence C.;
    • Sicko, Robert J.;
    • Hobbs, Charlotte A.;
    • Bamshad, Mike;
    • McGoldrick, Daniel;
    • Nickerson, Deborah A.;
    • Finnell, Richard H.;
    • Mullikin, James
    Publication type:
    Article
    21

    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
    22
    23

    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
    24
    25

    Exploring gene-environment interactions in Parkinson’s disease.

    Published in:
    Human Genetics, 2008, v. 123, n. 3, p. 257, doi. 10.1007/s00439-008-0466-z
    By:
    • McCulloch, Colin C.;
    • Kay, Denise M.;
    • Factor, Stewart A.;
    • Samii, Ali;
    • Nutt, John G.;
    • Higgins, Donald S.;
    • Griffith, Alida;
    • Roberts, John W.;
    • Leis, Berta C.;
    • Montimurro, Jennifer S.;
    • Zabetian, Cyrus P.;
    • Payami, Haydeh
    Publication type:
    Article
    26

    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
    27

    Association analysis of MAPT H1 haplotype and subhaplotypes in Parkinson's disease.

    Published in:
    Annals of Neurology, 2007, v. 62, n. 2, p. 137, doi. 10.1002/ana.21157
    By:
    • Zabetian, Cyrus P.;
    • Hutter, Carolyn M.;
    • Factor, Stewart A.;
    • Nutt, John G.;
    • Higgins, Donald S.;
    • Griffith, Alida;
    • Roberts, John W.;
    • Leis, Berta C.;
    • Kay, Denise M.;
    • Yearout, Dora;
    • Montimurro, Jennifer S.;
    • Edwards, Karen L.;
    • Samii, Ali;
    • Payami, Haydeh
    Publication type:
    Article
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    33

    Exome sequencing identifies novel genes underlying primary congenital glaucoma in the National Birth Defects Prevention Study.

    Published in:
    Birth Defects Research, 2024, v. 116, n. 7, p. 1, doi. 10.1002/bdr2.2384
    By:
    • Blue, Elizabeth E.;
    • Moore, Kristin J.;
    • North, Kari E.;
    • Desrosiers, Tania A.;
    • Carmichael, Suzan L.;
    • White, Janson J.;
    • Chong, Jessica X.;
    • Bamshad, Michael J.;
    • Jenkins, Mary M.;
    • Almli, Lynn M.;
    • Brody, Lawrence C.;
    • Freedman, Sharon F.;
    • Reefhuis, Jennita;
    • Romitti, Paul A.;
    • Shaw, Gary M.;
    • Werler, Martha;
    • Kay, Denise M.;
    • Browne, Marilyn L.;
    • Feldkamp, Marcia L.;
    • Finnell, Richard H.
    Publication type:
    Article
    34

    Exome sequencing identifies variants in infants with sacral agenesis.

    Published in:
    Birth Defects Research, 2022, v. 114, n. 7, p. 215, doi. 10.1002/bdr2.1987
    By:
    • Pitsava, Georgia;
    • Feldkamp, Marcia L.;
    • Pankratz, Nathan;
    • Lane, John;
    • Kay, Denise M.;
    • Conway, Kristin M.;
    • Hobbs, Charlotte;
    • Shaw, Gary M.;
    • Reefhuis, Jennita;
    • Jenkins, Mary M.;
    • Almli, Lynn M.;
    • Moore, Cynthia;
    • Werler, Martha;
    • Browne, Marilyn L.;
    • Cunniff, Chris;
    • Olshan, Andrew F.;
    • Pangilinan, Faith;
    • Brody, Lawrence C.;
    • Sicko, Robert J.;
    • Finnell, Richard H.
    Publication type:
    Article
    35

    Exome sequencing of family trios from the National Birth Defects Prevention Study: Tapping into a rich resource of genetic and environmental data.

    Published in:
    Birth Defects Research, 2019, v. 111, n. 20, p. 1618, doi. 10.1002/bdr2.1554
    By:
    • Jenkins, Mary M.;
    • Almli, Lynn M.;
    • Pangilinan, Faith;
    • Chong, Jessica X.;
    • Blue, Elizabeth E.;
    • Shapira, Stuart K.;
    • White, Janson;
    • McGoldrick, Daniel;
    • Smith, Joshua D.;
    • Mullikin, James C.;
    • Bean, Christopher J.;
    • Nembhard, Wendy N.;
    • Lou, Xiang‐Yang;
    • Shaw, Gary M.;
    • Romitti, Paul A.;
    • Keppler‐Noreuil, Kim;
    • Yazdy, Mahsa M.;
    • Kay, Denise M.;
    • Carter, Tonia C.;
    • Olshan, Andrew F.
    Publication type:
    Article
    36
    37

    Rare Germline DICER1 Variants in Pediatric Patients With Cushing's Disease: What Is Their Role?

    Published in:
    Frontiers in Endocrinology, 2020, v. 11, p. 1, doi. 10.3389/fendo.2020.00433
    By:
    • Martínez de LaPiscina, Idoia;
    • Hernández-Ramírez, Laura C.;
    • Portillo, Nancy;
    • Gómez-Gila, Ana L.;
    • Urrutia, Inés;
    • Martínez-Salazar, Rosa;
    • García-Castaño, Alejandro;
    • Aguayo, Aníbal;
    • Rica, Itxaso;
    • Gaztambide, Sonia;
    • Faucz, Fabio R.;
    • Keil, Margaret F.;
    • Lodish, Maya B.;
    • Quezado, Martha;
    • Pankratz, Nathan;
    • Chittiboina, Prashant;
    • Lane, John;
    • Kay, Denise M.;
    • Mills, James L.;
    • Castaño, Luis
    Publication type:
    Article
    38

    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
    39

    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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    Genome-Wide Gene-Environment Study Identifies Glutamate Receptor Gene GRIN2A as a Parkinson's Disease Modifier Gene via Interaction with Coffee.

    Published in:
    PLoS Genetics, 2011, v. 7, n. 8, p. 1, doi. 10.1371/journal.pgen.1002237
    By:
    • Hamza, Taye H.;
    • Chen, Honglei;
    • Hill-Burns, Erin M.;
    • Rhodes, Shannon L.;
    • Montimurro, Jennifer;
    • Kay, Denise M.;
    • Tenesa, Albert;
    • Kusel, Victoria I.;
    • Sheehan, Patricia;
    • Eaaswarkhanth, Muthukrishnan;
    • Yearout, Dora;
    • Samii, Ali;
    • Roberts, John W.;
    • Agarwal, Pinky;
    • Bordelon, Yvette;
    • Park, Yikyung;
    • Wang, Liyong;
    • Gao, Jianjun;
    • Vance, Jeffery M.;
    • Kendler, Kenneth S.
    Publication type:
    Article