Found: 9

Select item for more details and to access through your institution.

  • Exome Sequencing Identifies a Novel SIN3A Variant in a Patient with Witteveen-Kolk Syndrome.

    Published in:
    Molecular Syndromology, 2022, v. 13, n. 4, p. 337, doi. 10.1159/000520042
    By:
    • Penon-Portmann, Monica;
    • Carlston, Colleen M.;
    • Martin, Pierre-Marie;
    • Slavotinek, Anne
    Publication type:
    Article

  • X‐linked duplication copy number variation in a familial overgrowth condition.

    Published in:
    American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2019, v. 181, n. 4, p. 644, doi. 10.1002/ajmg.c.31756
    By:
    • Ha, Thoa K.;
    • Mardy, Anne H.;
    • Beleford, Daniah;
    • Spanier, Andrew;
    • Wayman, Brette V.;
    • Penon‐Portmann, Monica;
    • Wiita, Arun P.;
    • Shieh, Joseph T.
    Publication type:
    Article

  • Publisher Correction: Application of full-genome analysis to diagnose rare monogenic disorders.

    Published in:
    2021
    By:
    • Shieh, Joseph T.;
    • Penon-Portmann, Monica;
    • Wong, Karen H. Y.;
    • Levy-Sakin, Michal;
    • Verghese, Michelle;
    • Slavotinek, Anne;
    • Gallagher, Renata C.;
    • Mendelsohn, Bryce A.;
    • Tenney, Jessica;
    • Beleford, Daniah;
    • Perry, Hazel;
    • Chow, Stephen K.;
    • Sharo, Andrew G.;
    • Brenner, Steven E.;
    • Qi, Zhongxia;
    • Yu, Jingwei;
    • Klein, Ophir D.;
    • Martin, David;
    • Kwok, Pui-Yan;
    • Boffelli, Dario
    Publication type:
    Correction Notice

  • Application of full-genome analysis to diagnose rare monogenic disorders.

    Published in:
    NPJ Genomic Medicine, 2021, v. 6, n. 1, p. 1, doi. 10.1038/s41525-021-00241-5
    By:
    • Shieh, Joseph T.;
    • Penon-Portmann, Monica;
    • Wong, Karen H. Y.;
    • Levy-Sakin, Michal;
    • Verghese, Michelle;
    • Slavotinek, Anne;
    • Gallagher, Renata C.;
    • Mendelsohn, Bryce A.;
    • Tenney, Jessica;
    • Beleford, Daniah;
    • Perry, Hazel;
    • Chow, Stephen K.;
    • Sharo, Andrew G.;
    • Brenner, Steven E.;
    • Qi, Zhongxia;
    • Yu, Jingwei;
    • Klein, Ophir D.;
    • Martin, David;
    • Kwok, Pui-Yan;
    • Boffelli, Dario
    Publication type:
    Article

  • Application of full-genome analysis to diagnose rare monogenic disorders.

    Published in:
    NPJ Genomic Medicine, 2021, v. 6, n. 1, p. 1, doi. 10.1038/s41525-021-00241-5
    By:
    • Shieh, Joseph T.;
    • Penon-Portmann, Monica;
    • Wong, Karen H. Y.;
    • Levy-Sakin, Michal;
    • Verghese, Michelle;
    • Slavotinek, Anne;
    • Gallagher, Renata C.;
    • Mendelsohn, Bryce A.;
    • Tenney, Jessica;
    • Beleford, Daniah;
    • Perry, Hazel;
    • Chow, Stephen K.;
    • Sharo, Andrew G.;
    • Brenner, Steven E.;
    • Qi, Zhongxia;
    • Yu, Jingwei;
    • Klein, Ophir D.;
    • Martin, David;
    • Kwok, Pui-Yan;
    • Boffelli, Dario
    Publication type:
    Article

  • Application of full-genome analysis to diagnose rare monogenic disorders.

    Published in:
    NPJ Genomic Medicine, 2021, v. 6, n. 1, p. 1, doi. 10.1038/s41525-021-00241-5
    By:
    • Shieh, Joseph T.;
    • Penon-Portmann, Monica;
    • Wong, Karen H. Y.;
    • Levy-Sakin, Michal;
    • Verghese, Michelle;
    • Slavotinek, Anne;
    • Gallagher, Renata C.;
    • Mendelsohn, Bryce A.;
    • Tenney, Jessica;
    • Beleford, Daniah;
    • Perry, Hazel;
    • Chow, Stephen K.;
    • Sharo, Andrew G.;
    • Brenner, Steven E.;
    • Qi, Zhongxia;
    • Yu, Jingwei;
    • Klein, Ophir D.;
    • Martin, David;
    • Kwok, Pui-Yan;
    • Boffelli, Dario
    Publication type:
    Article

  • Wilson disease in Costa Rica: Pediatric phenotype and genotype characterization.

    Published in:
    Journal of Inherited Metabolic Disease Reports, 2020, v. 52, n. 1, p. 55, doi. 10.1002/jmd2.12098
    By:
    • Penon‐Portmann, Monica;
    • Lotz‐Esquivel, Stephanie;
    • Chavez Carrera, Alejandra;
    • Jiménez‐Hernández, Mildred;
    • Alvarado‐Romero, Danny;
    • Segura‐Cordero, Sharon;
    • Rimolo‐Donadio, Fiorella;
    • Hevia‐Urrutia, Francisco;
    • Mora‐Guevara, Alfredo;
    • Saborío‐Rocafort, Manuel;
    • Jiménez‐Arguedas, Gabriela;
    • Badilla‐Porras, Ramsés
    Publication type:
    Article

  • TRAPPC9‐related neurodevelopmental disorder: Report of a homozygous deletion in TRAPPC9 due to paternal uniparental isodisomy.

    Published in:
    American Journal of Medical Genetics. Part A, 2023, v. 191, n. 4, p. 1077, doi. 10.1002/ajmg.a.63100
    By:
    • Penon‐Portmann, Monica;
    • Hodoglugil, Ugur;
    • Arun P, Wiita;
    • Yip, Tiffany;
    • Slavotinek, Anne;
    • Tenney, Jessica L.
    Publication type:
    Article

  • De novo heterozygous variants in SLC30A7 are a candidate cause for Joubert syndrome.

    Published in:
    American Journal of Medical Genetics. Part A, 2022, v. 188, n. 8, p. 2360, doi. 10.1002/ajmg.a.62872
    By:
    • Penon‐Portmann, Monica;
    • Eldomery, Mohammad K.;
    • Potocki, Lorraine;
    • Marafi, Dana;
    • Posey, Jennifer E.;
    • Coban‐Akdemir, Zeynep;
    • Harel, Tamar;
    • Grochowski, Christopher M.;
    • Loucks, Hailey;
    • Devine, Walter Patrick;
    • Van Ziffle, Jessica;
    • Doherty, Dan;
    • Lupski, James R.;
    • Shieh, Joseph T.
    Publication type:
    Article