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Anna C. Need
Researcher at Imperial College London
Publications - 92
Citations - 11954
Anna C. Need is an academic researcher from Imperial College London. The author has contributed to research in topics: Genome-wide association study & Medicine. The author has an hindex of 43, co-authored 73 publications receiving 10623 citations. Previous affiliations of Anna C. Need include Queen Mary University of London & University College London.
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Journal ArticleDOI
Hemizygous mutations in L1CAM in two unrelated male probands with childhood onset psychosis.
Mitra S Sato,Marinos Kyriakopoulos,Anthony A. James,Susanne Marwedel,Clare Borsay,Armandina Almanza Gutierrez,Alexandra I. F. Blakemore,Anna C. Need,Anna C. Need +8 more
TL;DR: This is the first study reporting a possible extension of the phenotype of L1CAM variant carriers to childhood onset psychosis and the family history and presence of other significant rare genetic variants in the patients suggest that there may be genetic interactions modulating the presentation.
Multi-Trait Analysis of GWAS and Biological Insights Into Cognition: A Response to Hill (2018)
Max Lam,Joey W. Trampush,Jin Yu,Emma Knowles,Srdjan Djurovic,Ingrid Melle,Kjetil Sundet,Andrea Christoforou,Ivar Reinvang,Pamela DeRosse,Astri J. Lundervold,Vidar M. Steen,Thomas Espeseth,Katri Räikkönen,Elisabeth Widen,Aarno Palotie,Johan G. Eriksson,Ina Giegling,Bettina Konte,Panos Roussos,Stella G. Giakoumaki,Katherine E. Burdick,Katherine E. Burdick,Antony Payton,William Ollier,Ornit Chiba-Falek,Deborah K. Attix,Anna C. Need,Elizabeth T. Cirulli,Aristotle N. Voineskos,Nikos C. Stefanis,Dimitrios Avramopoulos,Alex Hatzimanolis,Alex Hatzimanolis,Dan E. Arking,Nikolaos Smyrnis,Robert M. Bilder,Nelson A. Freimer,Tyrone D. Cannon,Edythe D. London,Russell A. Poldrack,Fred W. Sabb,Eliza Congdon,Emily Drabant Conley,Matthew A. Scult,Dwight Dickinson,Richard E. Straub,Gary Donohoe,Derek W. Morris,Aiden Corvin,Michael Gill,Ahmad R. Hariri,Daniel R. Weinberger,Neil Pendleton,Panos Bitsios,Dan Rujescu,Jari Lahti,Stephanie Le Hellard,Matthew C. Keller,Ole A. Andreassen,David C. Glahn,Anil K. Malhotra,Anil K. Malhotra,Todd Lencz,Todd Lencz +64 more
TL;DR: Using empirical data, it is concluded that the MTAG results do not suffer from ‘inflation in the FDR [false discovery rate]’, as suggested by Hill, and are not ‘more relevant to the genetic contributions to education than they are to the Genetic contributions to intelligence’.
Journal ArticleDOI
A genotype-to-phenotype approach suggests under-reporting of single nucleotide variants in nephrocystin-1 (NPHP1) related disease (UK 100,000 Genomes Project)
Gary Leggatt,G. Cheng,Sumit Narain,Luis Briseño-Roa,Jean Philippe Annereau,J. Ambrose,Prabhu Arumugam,Roel P. J. Bevers,Marta Bleda,Freya Boardman-Pretty,Chris Boustred,Hank Brittain,M. A. Brown,Margaret Caulfield,G. Chan,Adriane Giess,John M. Griffin,A Hamblin,Seth Henderson,Tim Hubbard,R. Jackson,L. J. Jones,Dalia Kasperaviciute,Mehmet Suat Kayikci,Athanasios Kousathanas,L. Lahnstein,Antony Lakey,Sarah Leigh,I. Leong,F. J. López,Fiona Maleady-Crowe,M. McEntagart,Fabiana Minneci,J. Mitchell,Loukas Moutsianas,M. Mueller,Nirupa Murugaesu,Anna C. Need,Peter O'Donovan,Christopher A. Odhams,Clyde L. Patch,Daniel Perez-Gil,M. Pereira,John Pullinger,T. Rahim,Augusto Rendon,Tim Rogers,K Savage,K. Sawant,Robt. H. Scott,Afshan Siddiq,A. Sieghart,S.C. Smith,Alona Sosinsky,Alexander Stuckey,Maël Tanguy,Ana Lisa Taylor Tavares,Era Thomas,Sue Thompson,Arianna Tucci,M. Welland,Eleanor Williams,K. Witkowska,S. Wood,Magdalena Zarowiecki,Christine Gast,Rodney D. Gilbert,Sarah Ennis +67 more
TL;DR: This article used a gene pathogenicity scoring system (GenePy) and a genotype-to-phenotype approach on individuals recruited to the UK Genomics England (GEL) 100,000 Genomes Project (100kGP) (n = 78,050).
Journal ArticleDOI
Pathogenicity of missense variants affecting the collagen IV α5 carboxy non-collagenous domain in X-linked Alport syndrome
Joel Gibson,Omid Sadeghi-Alavijeh,Daniel Gale,Hansjörg Rothe,Judy Savige,J. Ambrose,Prabhu Arumugam,Emma L. Baple,Marta Bleda,Freya Boardman-Pretty,Jean-Marie Boissiere,Chris Boustred,Helen Brittain,Margaret Caulfield,G. Chan,C. E. H. Craig,Louise C. Daugherty,Anna de Burca,Andrew D. Devereau,Guy Elgar,Rebecca E. Foulger,Tom Fowler,Pedro Furió-Tarí,Adriane Giess,J. Hackett,Dina Halai,A Hamblin,Seth Henderson,J. Holman,Tim Hubbard,Kristina Ibáñez,R. Jackson,L. J. Jones,Dalia Kasperaviciute,Mehmet Suat Kayikci,Athanasios Kousathanas,L. Lahnstein,K. Lawson,Sarah Leigh,I. Leong,F. J. López,Fiona Maleady-Crowe,John Mason,Eamonn McDonagh,Loukas Moutsianas,M. Mueller,Nirupa Murugaesu,Anna C. Need,Christopher A. Odhams,A. L. Orioli,Clyde L. Patch,Daniel Perez-Gil,M. Pereira,Dimitris Polychronopoulos,John Pullinger,T. Rahim,Augusto Rendon,Pablo Riesgo-Ferreiro,Tim Rogers,Mark Ryten,K Savage,K. Sawant,Robt. H. Scott,Afshan Siddiq,A. Sieghart,D. A. Smedley,K. Smith,S.C. Smith,Alona Sosinsky,William Spooner,H. E. Stevens,Alexander Stuckey,Rozina Sultana,Maël Tanguy,Era Thomas,Simon G. Thompson,Carolyn Tregidgo,Arianna Tucci,E. Walsh,Stephen Andrew Watters,M. Welland,Eleanor Williams,K. Witkowska,S. Wood,Magdalena Zarowiecki +84 more
TL;DR: In this article , the consequences of missense variants affecting the NC1 domain of the corresponding collagen IV α5 chain were examined in a normal (gnomAD) and other databases (LOVD, Clin Var and 100,000 Genomes Project) to determine their pathogenicity and clinical significance.
Posted ContentDOI
Stretch-activated ion channel TMEM63B associates with developmental and epileptic encephalopathies and progressive neurodegeneration
Annalisa Vetro,Cristiana Pelorosso,Simona Balestrini,Alessio Masi,Sophie Hambleton,Emanuela Argilli,Valerio Conti,Simone Giubbolini,R. Barrick,Gaber Bergant,Karin Writzl,Emilia K. Bijlsma,Theresa Brunet,Pilar Cacheiro,Davide Mei,A.M. Devlin,Mariëtte J.V. Hoffer,Keren Machol,Guido Mannaioni,Masamune Sakamoto,Manoj P. Menezes,Thomas Courtin,Elliott H. Sherr,Riccardo Parra,Ruth Richardson,Tony Roscioli,Marcello Scala,Celina von Stülpnagel,Damian Smedley,Annalaura Torella,Jun Tohyama,Reiko Koichihara,Keisuke Hamada,Kazuhiro Ogata,Takashi Suzuki,Atsushi Sugie,Jasper J. van der Smagt,Koen L.I. van Gassen,Stéphanie Valence,E Vittery,Stephen M. Malone,Mitsuhiro Kato,Naomichi Matsumoto,Gian Michele Ratto,Renzo Guerrini,Francesca Pochiero,Francesco Mari,Venkateswaran Ramesh,Valeria Capra,Margherita Mancardi,Boris Keren,Matteo Lulli,Kendall C. Parks,Helen Griffin,Melanie Brugger,Vincenzo Nigro,Yuko Hirata,B. Matija Peterlin,Ryuto Maki,Yohei Nitta,J. Ambrose,Prabhu Arumugam,Roel P. J. Bevers,Marta Bleda,Freya Boardman-Pretty,Chris Boustred,Helen Brittain,Matthew A. Brown,Mark J. Caulfield,G. Chan,Adam Giess,John M. Griffin,Angela Hamblin,Shirley Henderson,Tim Hubbard,R. Jackson,L. J. Jones,Dalia Kasperaviciute,Melis Kayikci,Athanasios Kousathanas,L. Lahnstein,A. Lakey,Sarah Leigh,I. Leong,Javier Fernández López,Fiona Maleady-Crowe,Meriel McEntagart,Federico Minneci,J. Mitchell,Loukas Moutsianas,M. Mueller,Nirupa Murugaesu,Anna C. Need,Peter O'Donovan,Christopher A. Odhams,Christine Patch,Daniel Perez-Gil,M. Pereira,John Pullinger,T. Rahim,Augusto Rendon,Tim Rogers,Kevin Savage,K. Sawant,Richard T. Scott,Afshan Siddiq,A. Sieghart,Samuel C. Smith,Alona Sosinsky,Alexander Stuckey,Mélanie Tanguy,Ana Lisa Taylor Tavares,Ellen Thomas,Simon G. Thompson,Arianna Tucci,M. Welland,Eleanor Williams,K. Witkowska,S. Wood,Magdalena Zarowiecki +119 more
TL;DR: In this paper , the authors describe 16 unrelated patients, with severe early onset developmental and epileptic encephalopathy (DEE), intellectual disability, and severe motor and cortical visual impairment, associated with progressive neurodegenerative brain changes carrying ten distinct de novo variants of TMEM63B.