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Trillions and Trillions: Herpes Simplex Virus–1 Hepatitis in an Immunocompetent Adult.
Published in:
Open Forum Infectious Diseases, 2019, v. 6, n. 11, p. N.PAG, doi. 10.1093/ofid/ofz465
By:
- Ikuta, Kevin;
- Roychoudhury, Pavitra;
- Xie, Hong;
- Mcclurkan, Christopher L;
- Walkiewicz, Magdalena;
- Makhsous, Negar;
- Huang, Meei-Li;
- Beru, Yodit;
- Alam, Mariam;
- Shepherd, Amanda;
- Lamotte, Eric D;
- Patel, Kevin;
- Morris, Amy;
- Ҫoruh, Başak;
- Yu, Lei;
- Bhattacharya, Renuka;
- Cheng, Rex;
- Walter, Roland B;
- Limaye, Ajit P;
- Lockwood, Christina M
Publication type:
Article
Genetic Risk Factors for Early-Onset Merkel Cell Carcinoma.
Published in:
JAMA Dermatology, 2024, v. 160, n. 2, p. 172, doi. 10.1001/jamadermatol.2023.5362
By:
- Mohsin, Noreen;
- Hunt, Devin;
- Yan, Jia;
- Jabbour, Austin J.;
- Nghiem, Paul;
- Choi, Jaehyuk;
- Zhang, Yue;
- Freeman, Alexandra F.;
- Bergerson, Jenna R. E.;
- Dell'Orso, Stefania;
- Lachance, Kristina;
- Kulikauskas, Rima;
- Collado, Loren;
- Cao, Wenjia;
- Lack, Justin;
- Similuk, Morgan;
- Seifert, Bryce A.;
- Ghosh, Rajarshi;
- Walkiewicz, Magdalena A.;
- Brownell, Isaac
Publication type:
Article
Methionyl-tRNA Formyltransferase (MTFMT) Deficiency Mimicking Acquired Demyelinating Disease.
Published in:
2016
By:
- Pena, Joaquin A.;
- Lotze, Timothy;
- Yang, Yaping;
- Umana, Luis;
- Walkiewicz, Magdalena;
- Hunter, Jill V.;
- Scaglia, Fernando
Publication type:
Case Study
Clinical and molecular characterization of de novo loss of function variants in HNRNPU.
Published in:
American Journal of Medical Genetics. Part A, 2017, v. 173, n. 10, p. 2680, doi. 10.1002/ajmg.a.38388
By:
- Leduc, Magalie S.;
- Chao, Hsiao‐Tuan;
- Qu, Chunjing;
- Walkiewicz, Magdalena;
- Xiao, Rui;
- Magoulas, Pilar;
- Pan, Shujuan;
- Beuten, Joke;
- He, Weimin;
- Bernstein, Jonathan A.;
- Schaaf, Christian P.;
- Scaglia, Fernando;
- Eng, Christine M.;
- Yang, Yaping
Publication type:
Article
Atypical presentation of moyamoya disease in an infant with a de novo RNF213 variant.
Published in:
American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 11, p. 2742, doi. 10.1002/ajmg.a.37230
By:
- Harel, Tamar;
- Posey, Jennifer E.;
- Graham, Brett H.;
- Walkiewicz, Magdalena;
- Yang, Yaping;
- Lalani, Seema R.;
- Belmont, John W.
Publication type:
Article
Increased Insulin/Insulin Growth Factor Signaling Advances the Onset of Metamorphosis in Drosophila.
Published in:
PLoS ONE, 2009, v. 4, n. 4, p. 1, doi. 10.1371/journal.pone.0005072
By:
- Walkiewicz, Magdalena A.;
- Stern, Michael
Publication type:
Article
623 - Topical steroid withdrawal is a targetable overproduction of nicotinic acid from mitochondrial complex I overexpression.
Published in:
British Journal of Dermatology, 2024, v. 191, p. 1, doi. 10.1093/bjd/ljae266.007
By:
- Shobnam, Nadia;
- Ratley, Grace;
- Saksena, Sarini;
- Yadav, Manoj;
- Chaudhary, Prem Prashant;
- Sun, Ashleigh A;
- Howe, Katherine N;
- Gadkari, Manasi;
- Franco, Luis M;
- Ganesan, Sundar;
- McCann, Katelyn J;
- Hsu, Amy P;
- Kanakabandi, Kishore;
- Ricklefs, Stacy;
- Lack, Justin;
- Yu, Weiming;
- Similuk, Morgan;
- Walkiewicz, Magdalena A;
- Program, for the NIAID Centralized Sequencing;
- Gardner, Donna D
Publication type:
Article
Case report: Discovery of a de novo FAM111B pathogenic variant in a patient with an APECED-like clinical phenotype.
Published in:
Frontiers in Immunology, 2023, v. 14, p. 1, doi. 10.3389/fimmu.2023.1133387
By:
- Ferré, Elise M. N.;
- Yunting Yu;
- Oikonomou, Vasileios;
- Hilfanova, Anna;
- Lee, Chyi-Chia R.;
- Rosen, Lindsey B.;
- Burbelo, Peter D.;
- Vazquez, Sara E.;
- Anderson, Mark S.;
- Barocha, Amisha;
- Heller, Theo;
- Soldatos, Ariane;
- Holland, Steven M.;
- Walkiewicz, Magdalena A.;
- Lionakis, Michail S.
Publication type:
Article
Phenotypic expansion in DDX3X – a common cause of intellectual disability in females.
Published in:
Annals of Clinical & Translational Neurology, 2018, v. 5, n. 10, p. 1277, doi. 10.1002/acn3.622
By:
- Posey, Jennifer E.;
- Rosenfeld, Jill A.;
- Jiang, Yunyun;
- Darilek, Sandra A.;
- Hansen, Adam W.;
- Khayat, Michael M.;
- Hanchard, Neil;
- Belmont, John W.;
- Eldomery, Mohammad K.;
- Akdemir, Zeynep C.;
- Chen, Shan;
- Lee, Yi‐Chien;
- Lee, Brendan;
- Muzny, Donna M.;
- Gibbs, Richard A.;
- Moretti, Paolo;
- Wang, Xia;
- Leduc, Magalie S.;
- Walkiewicz, Magdalena A.;
- Bi, Weimin
Publication type:
Article
Robust Antibody and T Cell Responses to SARS-CoV-2 in Patients with Antibody Deficiency.
Published in:
Journal of Clinical Immunology, 2021, v. 41, n. 6, p. 1146, doi. 10.1007/s10875-021-01046-y
By:
- Kinoshita, Hannah;
- Durkee-Shock, Jessica;
- Jensen-Wachspress, Mariah;
- Kankate, Vaishnavi V.;
- Lang, Haili;
- Lazarski, Christopher A.;
- Keswani, Anjeni;
- Webber, Kathleen C.;
- Montgomery-Recht, Kimberly;
- Walkiewicz, Magdalena;
- Notarangelo, Luigi D.;
- Burbelo, Peter D.;
- Fuss, Ivan;
- Cohen, Jeffrey I.;
- Bollard, Catherine M.;
- Keller, Michael D.
Publication type:
Article
Functional analysis of novel DEAF1 variants identified through clinical exome sequencing expands DEAF1-associated neurodevelopmental disorder (DAND) phenotype.
Published in:
Human Mutation, 2017, v. 38, n. 12, p. 1774, doi. 10.1002/humu.23339
By:
- Chen, Li;
- Jensik, Philip J.;
- Alaimo, Joseph T.;
- Walkiewicz, Magdalena;
- Berger, Seth;
- Roeder, Elizabeth;
- Faqeih, Eissa A.;
- Bernstein, Jonathan A.;
- Smith, Ann C. M.;
- Mullegama, Sureni V.;
- Saffen, David W.;
- Elsea, Sarah H.
Publication type:
Article
POGZ truncating alleles cause syndromic intellectual disability.
Published in:
Genome Medicine, 2016, v. 8, p. 1, doi. 10.1186/s13073-015-0253-0
By:
- White, Janson;
- Beck, Christine R.;
- Harel, Tamar;
- Posey, Jennifer E.;
- Jhangiani, Shalini N.;
- Sha Tang;
- Farwell, Kelly D.;
- Powis, Zöe;
- Mendelsohn, Nancy J.;
- Baker, Janice A.;
- Pollack, Lynda;
- Mason, Kati J.;
- Wierenga, Klaas J.;
- Arrington, Daniel K.;
- Hall, Melissa;
- Psychogios, Apostolos;
- Fairbrother, Laura;
- Walkiewicz, Magdalena;
- Person, Richard E.;
- Zhiyv Niu
Publication type:
Article
Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders.
Published in:
Genome Medicine, 2017, v. 9, p. 1, doi. 10.1186/s13073-017-0463-8
By:
- Bostwick, Bret L.;
- McLean, Scott;
- Posey, Jennifer E.;
- Streff, Haley E.;
- Gripp, Karen W.;
- Blesson, Alyssa;
- Powell-Hamilton, Nina;
- Tusi, Jessica;
- Stevenson, David A.;
- Farrelly, Ellyn;
- Hudgins, Louanne;
- Yaping Yang;
- Fan Xia;
- Xia Wang;
- Pengfei Liu;
- Walkiewicz, Magdalena;
- McGuire, Marianne;
- Grange, Dorothy K.;
- Andrews, Marisa V.;
- Hummel, Marybeth
Publication type:
Article

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