Works matching AU Wakeling, Emma


Results: 31
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    Multicenter Consensus Approach to Evaluation of Neonatal Hypotonia in the Genomic Era: A Review.

    Published in:
    JAMA Neurology, 2022, v. 79, n. 4, p. 405, doi. 10.1001/jamaneurol.2022.0067
    By:
    • Morton, Sarah U.;
    • Christodoulou, John;
    • Costain, Gregory;
    • Muntoni, Francesco;
    • Wakeling, Emma;
    • Wojcik, Monica H.;
    • French, Courtney E.;
    • Szuto, Anna;
    • Dowling, James J.;
    • Cohn, Ronald D.;
    • Raymond, F. Lucy;
    • Darras, Basil T.;
    • Williams, David A.;
    • Lunke, Sebastian;
    • Stark, Zornitza;
    • Rowitch, David H.;
    • Agrawal, Pankaj B.
    Publication type:
    Article
    3

    Emerging phenotypes linked to variants in SAMD9 and MIRAGE syndrome.

    Published in:
    Frontiers in Endocrinology, 2022, v. 13, p. 1, doi. 10.3389/fendo.2022.953707
    By:
    • Suntharalingham, Jenifer P.;
    • Ishida, Miho;
    • Del Valle, Ignacio;
    • Stalman, Susanne E.;
    • Solanky, Nita;
    • Wakeling, Emma;
    • Moore, Gudrun E.;
    • Achermann, John C.;
    • Buonocore, Federica
    Publication type:
    Article
    4

    Further description of two individuals with de novo p.(Glu127Lys) missense variant in the ASCL1 gene.

    Published in:
    Clinical Genetics, 2024, v. 105, n. 5, p. 555, doi. 10.1111/cge.14485
    By:
    • Malbos, Marlène;
    • Wakeling, Emma;
    • Gautier, Thierry;
    • Boespflug‐Tanguy, Odile;
    • Busby, Louise;
    • Taylor‐Miller, Tashunka;
    • Dudoignon, Benjamin;
    • Bokov, Plamen;
    • Govin, Jérôme;
    • Grisval, Margot;
    • Rega, Adélaïde;
    • Mourot De Rougemont, Marie‐Gabrielle;
    • Aubriot‐Lorton, Marie‐Hélène;
    • Darmency, Véronique;
    • Bensignor, Candace;
    • Houzel, Anne;
    • Huet, Frédéric;
    • Denommé‐Pichon, Anne‐Sophie;
    • Delanne, Julian;
    • Tran Mau‐Them, Frédéric
    Publication type:
    Article
    5

    Methylation analysis of 79 patients with growth restriction reveals novel patterns of methylation change at imprinted loci.

    Published in:
    European Journal of Human Genetics, 2010, v. 18, n. 6, p. 648, doi. 10.1038/ejhg.2009.246
    By:
    • Turner, Claire Louise Susan;
    • Mackay, Deborah M.;
    • Callaway, Jonathan L. A.;
    • Docherty, Louise E.;
    • Poole, Rebecca L.;
    • Bullman, Hilary;
    • Lever, Margaret;
    • Castle, Bruce M.;
    • Kivuva, Emma C.;
    • Turnpenny, Peter D.;
    • Mehta, Sarju G.;
    • Mansour, Sahar;
    • Wakeling, Emma L.;
    • Mathew, Verghese;
    • Madden, Jackie;
    • Davies, Justin H.;
    • Temple, I. Karen
    Publication type:
    Article
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    Dominant and recessive SLC12A2‐syndrome.

    Published in:
    American Journal of Medical Genetics. Part A, 2022, v. 188, n. 3, p. 996, doi. 10.1002/ajmg.a.62573
    By:
    • McNeill, Alisdair;
    • Aurora, Paul;
    • Rajput, Kaukab;
    • Nash, Robert;
    • Stals, Karen;
    • Robinson, Hannah;
    • Wakeling, Emma
    Publication type:
    Article
    14
    15

    Cerebro-costo-mandibular syndrome: Clinical, radiological, and genetic findings.

    Published in:
    American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 5, p. 1115, doi. 10.1002/ajmg.a.37587
    By:
    • Tooley, Madeleine;
    • Lynch, Danielle;
    • Bernier, Francois;
    • Parboosingh, Jillian;
    • Bhoj, Elizabeth;
    • Zackai, Elaine;
    • Calder, Alistair;
    • Itasaki, Nobue;
    • Wakeling, Emma;
    • Scott, Richard;
    • Lees, Melissa;
    • Clayton‐Smith, Jill;
    • Blyth, Moira;
    • Morton, Jenny;
    • Shears, Debbie;
    • Kini, Usha;
    • Homfray, Tessa;
    • Clarke, Angus;
    • Barnicoat, Angela;
    • Wallis, Colin
    Publication type:
    Article
    16

    Cover Image, Volume 170A, Number 5, May 2016.

    Published in:
    2016
    By:
    • Tooley, Madeleine;
    • Lynch, Danielle;
    • Bernier, Francois;
    • Parboosingh, Jillian;
    • Bhoj, Elizabeth;
    • Zackai, Elaine;
    • Calder, Alistair;
    • Itasaki, Nobue;
    • Wakeling, Emma;
    • Scott, Richard;
    • Lees, Melissa;
    • Clayton‐Smith, Jill;
    • Blyth, Moira;
    • Morton, Jenny;
    • Shears, Debbie;
    • Kini, Usha;
    • Homfray, Tessa;
    • Clarke, Angus;
    • Barnicoat, Angela;
    • Wallis, Colin
    Publication type:
    Other
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    CCDC88A mutations cause PEHO-like syndrome in humans and mouse.

    Published in:
    2016
    By:
    • Nahorski, Michael S.;
    • Asai, Masato;
    • Wakeling, Emma;
    • Parker, Alasdair;
    • Asai, Naoya;
    • Canham, Natalie;
    • Holder, Susan E.;
    • Ya-Chun Chen;
    • Dyer, Joshua;
    • Brady, Angela F.;
    • Masahide Takahashi;
    • Woods, C. Geoffrey;
    • Chen, Ya-Chun;
    • Takahashi, Masahide
    Publication type:
    journal article
    21

    Evidence that insulin is imprinted in the human yolk sac.

    Published in:
    2001
    By:
    • Moore, Gudrun E.;
    • Abu-Amero, Sayeda N.;
    • Bell, Gill;
    • Wakeling, Emma L.;
    • Kingsnorth, Amanda;
    • Stanier, Philip;
    • Jauniaux, Eric;
    • Bennett, Simon T.;
    • Moore, G E;
    • Abu-Amero, S N;
    • Bell, G;
    • Wakeling, E L;
    • Kingsnorth, A;
    • Stanier, P;
    • Jauniaux, E;
    • Bennett, S T
    Publication type:
    journal article
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    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
    25

    Missense variants in TAF1 and developmental phenotypes: Challenges of determining pathogenicity.

    Published in:
    Human Mutation, 2020, v. 41, n. 2, p. 449, doi. 10.1002/humu.23936
    By:
    • Cheng, Hanyin;
    • Capponi, Simona;
    • Wakeling, Emma;
    • Marchi, Elaine;
    • Li, Quan;
    • Zhao, Mengge;
    • Weng, Chunhua;
    • Stefan, Piatek G.;
    • Ahlfors, Helena;
    • Kleyner, Robert;
    • Rope, Alan;
    • Lumaka, Aimé;
    • Lukusa, Prosper;
    • Devriendt, Koenraad;
    • Vermeesch, Joris;
    • Posey, Jennifer E.;
    • Palmer, Elizabeth E.;
    • Murray, Lucinda;
    • Leon, Eyby;
    • Diaz, Jullianne
    Publication type:
    Article
    26

    DOCK6 Mutations Are Responsible for a Distinct Autosomal-Recessive Variant of Adams-Oliver Syndrome Associated with Brain and Eye Anomalies.

    Published in:
    Human Mutation, 2015, v. 36, n. 11, p. 1112, doi. 10.1002/humu.22830
    By:
    • Sukalo, Maja;
    • Tilsen, Felix;
    • Kayserili, Hülya;
    • Müller, Dietmar;
    • Tüysüz, Beyhan;
    • Ruddy, Deborah M.;
    • Wakeling, Emma;
    • Ørstavik, Karen Helene;
    • Bramswig, Nuria C.;
    • Snape, Katie M.;
    • Trembath, Richard;
    • Smedt, Maryse;
    • der Aa, Nathalie;
    • Skalej, Martin;
    • Mundlos, Stefan;
    • Wuyts, Wim;
    • Southgate, Laura;
    • Zenker, Martin
    Publication type:
    Article
    27

    DOCK6 Mutations Are Responsible for a Distinct Autosomal-Recessive Variant of Adams-Oliver Syndrome Associated with Brain and Eye Anomalies.

    Published in:
    Human Mutation, 2015, v. 36, n. 6, p. 593, doi. 10.1002/humu.22795
    By:
    • Sukalo, Maja;
    • Tilsen, Felix;
    • Kayserili, Hülya;
    • Müller, Dietmar;
    • Tüysüz, Beyhan;
    • Ruddy, Deborah M.;
    • Wakeling, Emma;
    • Ørstavik, Karen Helene;
    • Snape, Katie M.;
    • Trembath, Richard;
    • Smedt, Maryse;
    • Aa, Nathalie;
    • Skalej, Martin;
    • Mundlos, Stefan;
    • Wuyts, Wim;
    • Southgate, Laura;
    • Zenker, Martin
    Publication type:
    Article
    28

    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
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    Loss-of-Function Variants in TBC1D32 Underlie Syndromic Hypopituitarism.

    Published in:
    Journal of Clinical Endocrinology & Metabolism, 2020, v. 105, n. 6, p. 1748, doi. 10.1210/clinem/dgaa078
    By:
    • Hietamäki, Johanna;
    • Gregory, Louise C.;
    • Ayoub, Sandy;
    • Iivonen, Anna-Pauliina;
    • Vaaralahti, Kirsi;
    • Xiaonan Liu;
    • Brandstack, Nina;
    • Buckton, Andrew J.;
    • Laine, Tiina;
    • Känsäkoski, Johanna;
    • Hero, Matti;
    • Miettinen, Päivi J.;
    • Varjosalo, Markku;
    • Wakeling, Emma;
    • Dattani, Mehul T.;
    • Raivio, Taneli
    Publication type:
    Article
    31

    Loss-of-Function Variants in TBC1D32 Underlie Syndromic Hypopituitarism.

    Published in:
    2020
    By:
    • Hietamäki, Johanna;
    • Gregory, Louise C;
    • Ayoub, Sandy;
    • Iivonen, Anna-Pauliina;
    • Vaaralahti, Kirsi;
    • Liu, Xiaonan;
    • Brandstack, Nina;
    • Buckton, Andrew J;
    • Laine, Tiina;
    • Känsäkoski, Johanna;
    • Hero, Matti;
    • Miettinen, Päivi J;
    • Varjosalo, Markku;
    • Wakeling, Emma;
    • Dattani, Mehul T;
    • Raivio, Taneli
    Publication type:
    journal article