Works by England, Eleina

Results: 10
    1

    Enhanced methods for unbiased deep sequencing of Lassa and Ebola RNA viruses from clinical and biological samples.

    Published in:
    Genome Biology, 2014, v. 15, n. 10, p. 519, doi. 10.1186/s13059-014-0519-7
    By:
    • Matranga, Christian B.;
    • Andersen, Kristian G.;
    • Winnicki, Sarah;
    • Busby, Michele;
    • Gladden, Adrianne D.;
    • Tewhey, Ryan;
    • Stremlau, Matthew;
    • Berlin, Aaron;
    • Gire, Stephen K.;
    • England, Eleina;
    • Moses, Lina M.;
    • Mikkelsen, Tarjei S.;
    • Odia, Ikponmwonsa;
    • Ehiane, Philomena E.;
    • Folarin, Onikepe;
    • Goba, Augustine;
    • Grant, Donald S.;
    • Honko, Anna;
    • Hensley, Lisa;
    • Happi, Christian
    Publication type:
    Article
    2

    seqr: A web‐based analysis and collaboration tool for rare disease genomics.

    Published in:
    Human Mutation, 2022, v. 43, n. 6, p. 698, doi. 10.1002/humu.24366
    By:
    • Pais, Lynn S.;
    • Snow, Hana;
    • Weisburd, Ben;
    • Zhang, Shifa;
    • Baxter, Samantha M.;
    • DiTroia, Stephanie;
    • O'Heir, Emily;
    • England, Eleina;
    • Chao, Katherine R.;
    • Lemire, Gabrielle;
    • Osei‐Owusu, Ikeoluwa;
    • VanNoy, Grace E.;
    • Wilson, Michael;
    • Nguyen, Kevin;
    • Arachchi, Harindra;
    • Phu, William;
    • Solomonson, Matthew;
    • Mano, Stacy;
    • O'Leary, Melanie;
    • Lovgren, Alysia
    Publication type:
    Article
    3

    Recessive variants in COL25A1 gene as novel cause of arthrogryposis multiplex congenita with ocular congenital cranial dysinnervation disorder.

    Published in:
    Human Mutation, 2022, v. 43, n. 4, p. 487, doi. 10.1002/humu.24333
    By:
    • Natera‐de Benito, Daniel;
    • Jurgens, Julie A.;
    • Yeung, Alison;
    • Zaharieva, Irina T.;
    • Manzur, Adnan;
    • DiTroia, Stephanie P.;
    • Di Gioia, Silvio Alessandro;
    • Pais, Lynn;
    • Pini, Veronica;
    • Barry, Brenda J.;
    • Chan, Wai‐Man;
    • Elder, James E.;
    • Christodoulou, John;
    • Hay, Eleanor;
    • England, Eleina M.;
    • Munot, Pinki;
    • Hunter, David G.;
    • Feng, Lucy;
    • Ledoux, Danielle;
    • O'Donnell‐Luria, Anne
    Publication type:
    Article
    4

    PIGN encephalopathy: Characterizing the epileptology.

    Published in:
    Epilepsia (Series 4), 2022, v. 63, n. 4, p. 974, doi. 10.1111/epi.17173
    By:
    • Bayat, Allan;
    • de Valles‐Ibáñez, Guillem;
    • Pendziwiat, Manuela;
    • Knaus, Alexej;
    • Alt, Kerstin;
    • Biamino, Elisa;
    • Bley, Annette;
    • Calvert, Sophie;
    • Carney, Patrick;
    • Caro‐Llopis, Alfonso;
    • Ceulemans, Berten;
    • Cousin, Janice;
    • Davis, Suzanne;
    • des Portes, Vincent;
    • Edery, Patrick;
    • England, Eleina;
    • Ferreira, Carlos;
    • Freeman, Jeremy;
    • Gener, Blanca;
    • Gorce, Magali
    Publication type:
    Article
    5
    6

    Novel patients with NHLRC2 variants expand the phenotypic spectrum of FINCA disease.

    Published in:
    Frontiers in Neuroscience, 2023, p. 01, doi. 10.3389/fnins.2023.1123327
    By:
    • Tallgren, Antti;
    • Kager, Leo;
    • O'Grady, Gina;
    • Tuominen, Hannu;
    • Körkkö, Jarmo;
    • Kuismin, Outi;
    • Feucht, Martha;
    • Wilson, Callum;
    • Behunova, Jana;
    • England, Eleina;
    • Kurki, Mitja I.;
    • Palotie, Aarno;
    • Hallman, Mikko;
    • Kaarteenaho, Riitta;
    • Laccone, Franco;
    • Boztug, Kaan;
    • Hinttala, Reetta;
    • Uusimaa, Johanna
    Publication type:
    Article
    7

    MAGEL2‐related disorders: A study and case series.

    Published in:
    Clinical Genetics, 2019, v. 96, n. 6, p. 493, doi. 10.1111/cge.13620
    By:
    • Patak, Jameson;
    • Gilfert, James;
    • Byler, Melissa;
    • Neerukonda, Vamsee;
    • Thiffault, Isabelle;
    • Cross, Laura;
    • Amudhavalli, Shivarajan;
    • Pacio‐Miguez, Marta;
    • Palomares‐Bralo, Maria;
    • Garcia‐Minaur, Sixto;
    • Santos‐Simarro, Fernando;
    • Powis, Zoe;
    • Alcaraz, Wendy;
    • Tang, Sha;
    • Jurgens, Julie;
    • Barry, Brenda;
    • England, Eleina;
    • Engle, Elizabeth;
    • Hess, Jonathon;
    • Lebel, Robert R.
    Publication type:
    Article
    8
    9

    Phenotype delineation of ZNF462 related syndrome.

    Published in:
    American Journal of Medical Genetics. Part A, 2019, v. 179, n. 10, p. 2075, doi. 10.1002/ajmg.a.61306
    By:
    • Kruszka, Paul;
    • Hu, Tommy;
    • Hong, Sungkook;
    • Signer, Rebecca;
    • Cogné, Benjamin;
    • Isidor, Betrand;
    • Mazzola, Sarah E.;
    • Giltay, Jacques C.;
    • Gassen, Koen L. I.;
    • England, Eleina M.;
    • Pais, Lynn;
    • Ockeloen, Charlotte W.;
    • Sanchez‐Lara, Pedro A.;
    • Kinning, Esther;
    • Adams, Darius J.;
    • Treat, Kayla;
    • Torres‐Martinez, Wilfredo;
    • Bedeschi, Maria F.;
    • Iascone, Maria;
    • Blaney, Stephanie
    Publication type:
    Article
    10

    Determinants of penetrance and variable expressivity in monogenic metabolic conditions across 77,184 exomes.

    Published in:
    Nature Communications, 2021, v. 12, n. 1, p. 1, doi. 10.1038/s41467-021-23556-4
    By:
    • Goodrich, Julia K.;
    • Singer-Berk, Moriel;
    • Son, Rachel;
    • Sveden, Abigail;
    • Wood, Jordan;
    • England, Eleina;
    • Cole, Joanne B.;
    • Weisburd, Ben;
    • Watts, Nick;
    • Caulkins, Lizz;
    • Dornbos, Peter;
    • Koesterer, Ryan;
    • Zappala, Zachary;
    • Zhang, Haichen;
    • Maloney, Kristin A.;
    • Dahl, Andy;
    • Aguilar-Salinas, Carlos A.;
    • Atzmon, Gil;
    • Barajas-Olmos, Francisco;
    • Barzilai, Nir
    Publication type:
    Article