Emma Wakeling
AuthID: R-00G-CE8
1
TITLE: Genome sequencing and comprehensive rare-variant analysis of 465 families with neurodevelopmental disorders
AUTHORS: Sanchis Juan, Alba; Megy, Karyn; Stephens, Jonathan; Ricaurte, Camila Armirola; Dewhurst, Eleanor; Low, Kayyi; French, Courtney E.; Grozeva, Detelina; Stirrups, Kathleen; Erwood, Marie; McTague, Amy; Penkett, Christopher J.; Shamardina, Olga; Tuna, Salih; Daugherty, Louise C.; Gleadall, Nicholas; Duarte, Sofia T.; Hedrera Fernandez, Antonio; Vogt, Julie; Ambegaonkar, Gautam; ...More
PUBLISHED: 2023, SOURCE: AMERICAN JOURNAL OF HUMAN GENETICS, VOLUME: 110, ISSUE: 8
AUTHORS: Sanchis Juan, Alba; Megy, Karyn; Stephens, Jonathan; Ricaurte, Camila Armirola; Dewhurst, Eleanor; Low, Kayyi; French, Courtney E.; Grozeva, Detelina; Stirrups, Kathleen; Erwood, Marie; McTague, Amy; Penkett, Christopher J.; Shamardina, Olga; Tuna, Salih; Daugherty, Louise C.; Gleadall, Nicholas; Duarte, Sofia T.; Hedrera Fernandez, Antonio; Vogt, Julie; Ambegaonkar, Gautam; ...More
PUBLISHED: 2023, SOURCE: AMERICAN JOURNAL OF HUMAN GENETICS, VOLUME: 110, ISSUE: 8
INDEXED IN: 
Scopus 
WOS
Scopus WOS2
TITLE: Missense variants in TAF1 and developmental phenotypes: Challenges of determining pathogenicity Full Text
AUTHORS: Hanyin Y Cheng; Simona Capponi; Emma Wakeling; Elaine Marchi; Quan Li; Mengge G Zhao; Chunhua H Weng; Piatek G Stefan; Helena Ahlfors; Robert Kleyner; Alan Rope; Aime Lumaka; Prosper Lukusa; Koenraad Devriendt; Joris Vermeesch; Jennifer E Posey; Elizabeth E Palmer; Lucinda Murray; Eyby Leon; Jullianne Diaz; ...More
PUBLISHED: 2020, SOURCE: HUMAN MUTATION, VOLUME: 41, ISSUE: 2
AUTHORS: Hanyin Y Cheng; Simona Capponi; Emma Wakeling; Elaine Marchi; Quan Li; Mengge G Zhao; Chunhua H Weng; Piatek G Stefan; Helena Ahlfors; Robert Kleyner; Alan Rope; Aime Lumaka; Prosper Lukusa; Koenraad Devriendt; Joris Vermeesch; Jennifer E Posey; Elizabeth E Palmer; Lucinda Murray; Eyby Leon; Jullianne Diaz; ...More
PUBLISHED: 2020, SOURCE: HUMAN MUTATION, VOLUME: 41, ISSUE: 2
INDEXED IN: Scopus WOS
Scopus WOS3
TITLE: Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome Full Text
AUTHORS: Jeroen K J Van Houdt; Beata Anna Nowakowska; Sergio B Sousa; Barbera D C van Schaik; Eve Seuntjens; Nelson Avonce; Alejandro Sifrim; Omar A Abdul Rahman; Marie Jose H van den Boogaard; Armand Bottani; Marco Castori; Valerie Cormier Daire; Matthew A Deardorff; Isabel Filges; Alan Fryer; Jean Pierre Fryns; Simone Gana; Livia Garavelli; Gabriele Gillessen Kaesbach; Bryan D Hall; ...More
PUBLISHED: 2012, SOURCE: NATURE GENETICS, VOLUME: 44, ISSUE: 4
AUTHORS: Jeroen K J Van Houdt; Beata Anna Nowakowska; Sergio B Sousa; Barbera D C van Schaik; Eve Seuntjens; Nelson Avonce; Alejandro Sifrim; Omar A Abdul Rahman; Marie Jose H van den Boogaard; Armand Bottani; Marco Castori; Valerie Cormier Daire; Matthew A Deardorff; Isabel Filges; Alan Fryer; Jean Pierre Fryns; Simone Gana; Livia Garavelli; Gabriele Gillessen Kaesbach; Bryan D Hall; ...More
PUBLISHED: 2012, SOURCE: NATURE GENETICS, VOLUME: 44, ISSUE: 4
4
TITLE: Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus Full Text
AUTHORS: Beverley H Anderson; Paul R Kasher; Josephine Mayer; Marcin Szynkiewicz; Emma M Jenkinson; Sanjeev S Bhaskar; Jill E Urquhart; Sarah B Daly; Jonathan E Dickerson; James O'Sullivan; Elisabeth Oppliger Leibundgut; Joanne Muter; Ghada M H Abdel Salem; Riyana Babul Hirji; Peter Baxter; Andrea Berger; Luisa Bonafe; Janice E Brunstom Hernandez; Johannes A Buckard; David Chitayat; ...More
PUBLISHED: 2012, SOURCE: NATURE GENETICS, VOLUME: 44, ISSUE: 3
AUTHORS: Beverley H Anderson; Paul R Kasher; Josephine Mayer; Marcin Szynkiewicz; Emma M Jenkinson; Sanjeev S Bhaskar; Jill E Urquhart; Sarah B Daly; Jonathan E Dickerson; James O'Sullivan; Elisabeth Oppliger Leibundgut; Joanne Muter; Ghada M H Abdel Salem; Riyana Babul Hirji; Peter Baxter; Andrea Berger; Luisa Bonafe; Janice E Brunstom Hernandez; Johannes A Buckard; David Chitayat; ...More
PUBLISHED: 2012, SOURCE: NATURE GENETICS, VOLUME: 44, ISSUE: 3
5
TITLE: Nicolaides-Baraitser Syndrome: Delineation of the Phenotype Full Text
AUTHORS: Sergio B Sousa; Omar A Abdul Rahman; Armand Bottani; Valerie Cormier Daire; Alan Fryer; Gabriele Gillessen Kaesbach; Denise Horn; Dragana Josifova; Alma Kuechler; Melissa Lees; Kay MacDermot; Alex Magee; Fanny Morice Picard; Elizabeth Rosser; Ajoy Sarkar; Nora Shannon; Irene Stolte Dijkstra; Alain Verloes; Emma Wakeling; Louise Wilson; ...More
PUBLISHED: 2009, SOURCE: AMERICAN JOURNAL OF MEDICAL GENETICS PART A, VOLUME: 149A, ISSUE: 8
AUTHORS: Sergio B Sousa; Omar A Abdul Rahman; Armand Bottani; Valerie Cormier Daire; Alan Fryer; Gabriele Gillessen Kaesbach; Denise Horn; Dragana Josifova; Alma Kuechler; Melissa Lees; Kay MacDermot; Alex Magee; Fanny Morice Picard; Elizabeth Rosser; Ajoy Sarkar; Nora Shannon; Irene Stolte Dijkstra; Alain Verloes; Emma Wakeling; Louise Wilson; ...More
PUBLISHED: 2009, SOURCE: AMERICAN JOURNAL OF MEDICAL GENETICS PART A, VOLUME: 149A, ISSUE: 8
