Works matching AU Wakeling, Emma

Results: 31

Combined novel homozygous variants in both SGPL1 and STAT1 presenting with severe combined immune deficiency: case report and literature review.

Published in:

Frontiers in Immunology, 2023, p. 1, doi. 10.3389/fimmu.2023.1186575

By:

Roa-Bautista, Adriel;
Sohail, Mahreen;
Wakeling, Emma;
Gilmour, Kimberly C.;
Davis, Mark;
Gait, Anthony;
Lucchini, Giovanna;
Cox, David;
Elfeky, Reem;
Kusters, Maaike

Publication type:

Article

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

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

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

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

Deletions of 2q14 that include the homeobox engrailed 1 (EN1) transcription factor are compatible with a normal phenotype.

Published in:

European Journal of Human Genetics, 2006, v. 14, n. 6, p. 739, doi. 10.1038/sj.ejhg.5201605

By:

Barber, John C. K.;
Maloney, Viv K.;
Bewes, Beverley;
Wakeling, Emma

Publication type:

Article

Human EGFR, a candidate gene for the Silver-Russell syndrome, is biallelically expressed in a wide range of fetal tissues.

Published in:

European Journal of Human Genetics, 1998, v. 6, n. 2, p. 158, doi. 10.1038/sj.ejhg.5200179

By:

Wakeling, Emma L;
Abu-Amero, Sayeda N;
Stanier, Philip;
Preece, Michael A;
Moore, Gudrun E

Publication type:

Article

Height and body mass index in molecularly confirmed Silver–Russell syndrome and the long‐term effects of growth hormone treatment.

Published in:

Clinical Endocrinology, 2022, v. 97, n. 3, p. 284, doi. 10.1111/cen.14715

By:

Lokulo‐Sodipe, Oluwakemi;
Giabicani, Eloïse;
Canton, Ana P. M.;
Ferrand, Nawfel;
Child, Jenny;
Wakeling, Emma L.;
Binder, Gerhard;
Netchine, Irène;
Mackay, Deborah J. G.;
Inskip, Hazel M.;
Byrne, Christopher D.;
Temple, I. Karen;
Davies, Justin H.

Publication type:

Article

Determination of the mutation spectrum of the EXT1/EXT2 genes in British Caucasian patients with multiple osteochondromas, and exclusion of six candidate genes in EXT negative cases.

Published in:

Human Mutation, 2006, v. 27, n. 11, p. 1160, doi. 10.1002/humu.9467

By:

Lonie, Lorne;
Porter, Daniel E.;
Fraser, Maria;
Cole, Trevor;
Wise, Carol;
Yates, Laura;
Wakeling, Emma;
Blair, Ed;
Morava, Eva;
Monaco, Anthony P.;
Ragoussis, Jiannis

Publication type:

Article

Baseline and post prophylactic tubal-ovarian surgery CA125 levels in BRCA1 and BRCA2 mutation carriers.

Published in:

Familial Cancer, 2014, v. 13, n. 2, p. 197, doi. 10.1007/s10689-013-9697-9

By:

Chen, Ying;
Bancroft, Elizabeth;
Ashley, Sue;
Arden-Jones, Audrey;
Thomas, Sarah;
Shanley, Susan;
Saya, Sibel;
Wakeling, Emma;
Eeles, Rosalind

Publication type:

Article

Identification of a homozygous nonsense mutation in KIAA0556 in a consanguineous family displaying Joubert syndrome.

Published in:

Human Genetics, 2016, v. 135, n. 8, p. 919, doi. 10.1007/s00439-016-1689-z

By:

Roosing, Susanne;
Rosti, Rasim;
Rosti, Basak;
Vrieze, Erik;
Silhavy, Jennifer;
Wijk, Erwin;
Wakeling, Emma;
Gleeson, Joseph

Publication type:

Article

STXBP1 Stop‐Loss Mutation Associated with Complex Early Onset Movement Disorder without Epilepsy.

Published in:

Movement Disorders Clinical Practice, 2022, v. 9, n. 6, p. 837, doi. 10.1002/mdc3.13509

By:

Spaull, Robert;
Steel, Dora;
Barwick, Katy;
Prabhakar, Prab;
Wakeling, Emma;
Kurian, Manju A.

Publication type:

Article

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

Expanding the molecular basis and phenotypic spectrum of <italic>ZDHHC9</italic>‐associated X‐linked intellectual disability.

Published in:

American Journal of Medical Genetics. Part A, 2018, v. 176, n. 5, p. 1238, doi. 10.1002/ajmg.a.38683

By:

Schirwani, Schaida;
Wakeling, Emma;
Smith, Kath;
DDD Study;
Balasubramanian, Meena

Publication type:

Article

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

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

Dysspondyloenchondromatosis (DSC) Associated with COL2A1 Mutation: Clinical and Radiological Overlap with Spondyloepimetaphyseal Dysplasia-Strudwick Type (SEMD-S).

Published in:

American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 12, p. 3103, doi. 10.1002/ajmg.a.37282

By:

Merrick, Blair;
Calder, Alistair;
Wakeling, Emma

Publication type:

Article

Four patients with Sillence type I osteogenesis imperfecta and mild bone fragility, complicated by left ventricular cardiac valvular disease and cardiac tissue fragility caused by type I collagen mutations.

Published in:

American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 2, p. 386, doi. 10.1002/ajmg.a.36285

By:

Vandersteen, Anthony M.;
Lund, Allan M.;
Ferguson, David J.P.;
Sawle, Philip;
Pollitt, Rebecca C.;
Holder, Susan E.;
Wakeling, Emma;
Moat, Neil;
Pope, F. Michael

Publication type:

Article

Targeted methylation testing of a patient cohort broadens the epigenetic and clinical description of imprinting disorders.

Published in:

American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 9, p. 2174, doi. 10.1002/ajmg.a.36049

By:

Poole, Rebecca L.;
Docherty, Louise E.;
Al Sayegh, Abeer;
Caliebe, Almuth;
Turner, Claire;
Baple, Emma;
Wakeling, Emma;
Harrison, Lucy;
Lehmann, Anna;
Temple, I. KarEN;
Mackay, Deborah J.G.

Publication type:

Article

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

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

Complexity of the 5' Untranslated Region of EIF4A3, a Critical Factor for Craniofacial and Neural Development.

Published in:

Frontiers in Genetics, 2018, p. 1, doi. 10.3389/fgene.2018.00149

By:

Hsia, Gabriella S. P.;
Musso, Camila M.;
Alvizi, Lucas;
Brito, Luciano A.;
Kobayashi, Gerson S.;
Pavanello, Rita C. M.;
Zatz, Mayana;
Gardham, Alice;
Wakeling, Emma;
Zechi-Ceide, Roseli M.;
Bertola, Debora;
Passos-Bueno, Maria Rita

Publication type:

Article

Central osteosclerosis with trichothiodystrophy.

Published in:

2004

By:

Wakeling, Emma L.;
Cruwys, Michele;
Suri, Mohnish;
Brady, Angela F.;
Aylett, Sarah E.;
Hall, Christine

Publication type:

journal article

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

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

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

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

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

Body Composition and Metabolism in Adults With Molecularly Confirmed Silver-Russell Syndrome.

Published in:

Journal of Clinical Endocrinology & Metabolism, 2024, v. 109, n. 11, p. e2001, doi. 10.1210/clinem/dgae074

By:

Lokulo-Sodipe, Oluwakemi;
Inskip, Hazel M;
Byrne, Christopher D;
Child, Jenny;
Wakeling, Emma L;
Mackay, Deborah J G;
Temple, I Karen;
Davies, Justin H

Publication type:

Article

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

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