Works by Gardham, Alice

Results: 9
    1

    Pathogenic NR2F1 variants cause a developmental ocular phenotype recapitulated in a mutant mouse model.

    Published in:
    Brain Communications, 2021, v. 3, n. 3, p. 1, doi. 10.1093/braincomms/fcab162
    By:
    • Jurkute, Neringa;
    • Bertacchi, Michele;
    • Arno, Gavin;
    • Tocco, Chiara;
    • Kim, Ungsoo Samuel;
    • Kruszewski, Adam M.;
    • Avery, Robert A.;
    • Bedoukian, Emma C.;
    • Jinu Han;
    • Sung Jun Ahn;
    • Pontikos, Nikolas;
    • Acheson, James;
    • Davagnanam, Indran;
    • Bowman, Richard;
    • Kaliakatsos, Marios;
    • Gardham, Alice;
    • Wakeling, Emma;
    • Oluonye, Ngozi;
    • Reddy, Maddy Ashwin;
    • Clark, Elaine
    Publication type:
    Article
    2

    Individuals with heterozygous variants in the Wnt-signalling pathway gene FZD5 delineate a phenotype characterized by isolated coloboma and variable expressivity.

    Published in:
    Ophthalmic Genetics, 2022, v. 43, n. 6, p. 809, doi. 10.1080/13816810.2022.2144905
    By:
    • Holt, Richard;
    • Goudie, David;
    • Verde, Alejandra Damián;
    • Gardham, Alice;
    • Ramond, Francis;
    • Putoux, Audrey;
    • Sarkar, Ajoy;
    • Clowes, Virginia;
    • Clayton-Smith, Jill;
    • Banka, Siddharth;
    • Cortazar Galarza, Laura;
    • Thuret, Gilles;
    • Ubeda Erviti, Marta;
    • Zurutuza Ibarguren, Ane;
    • Sáez Villaverde, Raquel;
    • Tamayo Durán, Alejandra;
    • Ayuso, Carmen;
    • Bax, Dorine A;
    • Plaisancie, Julie;
    • Corton, Marta
    Publication type:
    Article
    3

    Personalized recurrence risk assessment following the birth of a child with a pathogenic de novo mutation.

    Published in:
    Nature Communications, 2023, v. 14, n. 1, p. 1, doi. 10.1038/s41467-023-36606-w
    By:
    • Bernkopf, Marie;
    • Abdullah, Ummi B.;
    • Bush, Stephen J.;
    • Wood, Katherine A.;
    • Ghaffari, Sahar;
    • Giannoulatou, Eleni;
    • Koelling, Nils;
    • Maher, Geoffrey J.;
    • Thibaut, Loïc M.;
    • Williams, Jonathan;
    • Blair, Edward M.;
    • Kelly, Fiona Blanco;
    • Bloss, Angela;
    • Burkitt-Wright, Emma;
    • Canham, Natalie;
    • Deng, Alexander T.;
    • Dixit, Abhijit;
    • Eason, Jacqueline;
    • Elmslie, Frances;
    • Gardham, Alice
    Publication type:
    Article
    4

    Clinical findings of 21 previously unreported probands with HNRNPU‐related syndrome and comprehensive literature review.

    Published in:
    American Journal of Medical Genetics. Part A, 2020, v. 182, n. 7, p. 1637, doi. 10.1002/ajmg.a.61599
    By:
    • Durkin, Anna;
    • Albaba, Shadi;
    • Fry, Andrew E.;
    • Morton, Jenny E.;
    • Douglas, Andrew;
    • Beleza, Ana;
    • Williams, Denise;
    • Volker‐Touw, Catharina M.L.;
    • Lynch, Sally A.;
    • Canham, Natalie;
    • Clowes, Virginia;
    • Straub, Volker;
    • Lachlan, Katherine;
    • Gibbon, Frances;
    • El Gamal, Mayy;
    • Varghese, Vinod;
    • Parker, Michael J.;
    • Newbury‐Ecob, Ruth;
    • Turnpenny, Peter D.;
    • Gardham, Alice
    Publication type:
    Article
    5

    Expanding the allelic spectrum of ELOVL4‐related autosomal recessive neuro‐ichthyosis.

    Published in:
    Molecular Genetics & Genomic Medicine, 2023, v. 11, n. 12, p. 1, doi. 10.1002/mgg3.2256
    By:
    • Alabdulrazzaq, Fatima;
    • Alanzi, Talal;
    • Al‐Balool, Haya H.;
    • Gardham, Alice;
    • Wakeling, Emma;
    • Leitch, Harry G.;
    • AlSayed, Moeenaldeen;
    • Abdulrahim, Maha;
    • Aladwani, Abdulaziz;
    • Romito, Antonio;
    • Kampe, Kapil;
    • Ferdinandusse, Sacha;
    • Aboelanine, Ashraf H.;
    • Abdullah, Amira;
    • Alwadani, Amal;
    • Bastaki, Laila;
    • Vaz, Frédéric M.;
    • Bertoli‐Avella, Aida M.;
    • Marafi, Dana
    Publication type:
    Article
    6
    7

    Expanding Clinical Presentations Due to Variations in THOC2 mRNA Nuclear Export Factor.

    Published in:
    Frontiers in Molecular Neuroscience, 2020, v. 13, p. 1, doi. 10.3389/fnmol.2020.00012
    By:
    • Kumar, Raman;
    • Palmer, Elizabeth;
    • Gardner, Alison E.;
    • Carroll, Renee;
    • Banka, Siddharth;
    • Abdelhadi, Ola;
    • Donnai, Dian;
    • Elgersma, Ype;
    • Curry, Cynthia J.;
    • Gardham, Alice;
    • Suri, Mohnish;
    • Malla, Rishikesh;
    • Brady, Lauren Ilana;
    • Tarnopolsky, Mark;
    • Azmanov, Dimitar N.;
    • Atkinson, Vanessa;
    • Black, Michael;
    • Baynam, Gareth;
    • Dreyer, Lauren;
    • Hayeems, Robin Z.
    Publication type:
    Article
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