OpenURL Connection Search

Select item for more details and to access through your institution.

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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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

Found: 31