A
AK Lampe
Researcher at Western General Hospital
Publications - 41
Citations - 2603
AK Lampe is an academic researcher from Western General Hospital. The author has contributed to research in topics: Ullrich congenital muscular dystrophy & Collagen VI. The author has an hindex of 20, co-authored 35 publications receiving 2102 citations. Previous affiliations of AK Lampe include University of Pennsylvania & Newcastle University.
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Journal ArticleDOI
Mutations in human complement regulator, membrane cofactor protein (CD46), predispose to development of familial hemolytic uremic syndrome
Anna Richards,Elizabeth J. Kemp,M. Kathryn Liszewski,Judith A. Goodship,AK Lampe,Ronny Decorte,M Hamza Müslümanoğlu,Salih Kavukcu,Guido Filler,Yves Pirson,Leana S. Wen,John P. Atkinson,Timothy H.J. Goodship +12 more
TL;DR: Further evidence is presented that complement dysregulation predisposes to development of thrombotic microangiopathy and that screening patients for such defects could provide informed treatment strategies.
Journal ArticleDOI
Collagen VI related muscle disorders
AK Lampe,Kate Bushby +1 more
TL;DR: The clinical phenotypes of BM and UCMD are reviewed, the current knowledge of the pathogenesis of collagen VI related disorders is provided, and an overview of the currently known genes encoding collagen VI is provided.
Journal ArticleDOI
Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing
Alejandro Sifrim,Marc-Phillip Hitz,Anna Wilsdon,Jeroen Breckpot,Saeed Al Turki,Saeed Al Turki,Saeed Al Turki,Bernard Thienpont,Jeremy F. McRae,Tomas W Fitzgerald,Tarjinder Singh,Ganesh J. Swaminathan,Elena Prigmore,Diana Rajan,Hashim Abdul-Khaliq,Siddharth Banka,Siddharth Banka,U.M.M. Bauer,Jamie Bentham,Felix Berger,Shoumo Bhattacharya,Frances A. Bu'Lock,Natalie Canham,Irina-Gabriela Colgiu,Catherine Cosgrove,Helen Cox,Ingo Daehnert,Allan Daly,John Danesh,John Danesh,Alan Fryer,Marc Gewillig,Emma Hobson,Kirstin Hoff,Tessa Homfray,Anne-Karin Kahlert,Ami Ketley,Hans-Heiner Kramer,Katherine Lachlan,Katherine Lachlan,Katherine Lachlan,AK Lampe,Jacoba Louw,Ashok Kumar Manickara,Dorin Manase,Karen P. McCarthy,Kay Metcalfe,Carmel Moore,Ruth Newbury-Ecob,Seham Osman Omer,Willem H. Ouwehand,Soo-Mi Park,Michael Parker,Thomas Pickardt,Martin O. Pollard,Leema Robert,David J. Roberts,David J. Roberts,David J. Roberts,Jennifer G. Sambrook,Kerry Setchfield,Brigitte Stiller,Christopher Thornborough,Okan Toka,Hugh Watkins,Denise Williams,Michael Wright,Seema Mital,Piers E.F. Daubeney,Bernard Keavney,Judith A. Goodship,Riyadh M. Abu-Sulaiman,Riyadh M. Abu-Sulaiman,Riyadh M. Abu-Sulaiman,Sabine Klaassen,Caroline F. Wright,Helen V. Firth,Jeffrey C. Barrett,Koenraad Devriendt,David R. FitzPatrick,J. David Brook,Matthew E. Hurles +81 more
TL;DR: Exome sequenced 1,891 probands and identified three genome-wide significant S-CHD disorders caused by DNMs in CHD4, CDK13 and PRKD1, finding evidence for distinct genetic architectures underlying the low sibling recurrence risk in S- CHD and NS-CHd.
Journal ArticleDOI
Evidence for 28 genetic disorders discovered by combining healthcare and research data
Joanna Kaplanis,Kaitlin E. Samocha,Laurens Wiel,Z Zhang,Kevin J. Arvai,Ruth Y. Eberhardt,Giuseppe Gallone,Stefan H. Lelieveld,Hilary C. Martin,Jeremy F. McRae,Patrick J. Short,Rebecca I. Torene,E. de Boer,Petr Danecek,Eugene J. Gardner,Ni Huang,Jenny Lord,Jenny Lord,Inigo Martincorena,Rolph Pfundt,Reijnders Mrf.,Reijnders Mrf.,A Yeung,Helger G. Yntema,S Borras,C Clark,J Dean,Z Miedzybrodzka,A Ross,A Ross,S Tennant,T Dabir,D Donnelly,M Humphreys,A Magee,V McConnell,Shane McKee,Susan E. McNerlan,P J Morrison,Gillian Rea,Fiona Stewart,Trevor Cole,Nicola S. Cooper,L Cooper-Charles,Helen Cox,L Islam,Joseph P. Jarvis,Rebecca Keelagher,D Lim,Dominic J. McMullan,Jenny Morton,S Naik,M O’Driscoll,K R Ong,Deborah Osio,Nicola K. Ragge,S Turton,Julie Vogt,Denise Williams,S. Bodek,Alan Donaldson,A. Hills,K Low,Ruth Newbury-Ecob,A M Norman,E. Roberts,Ingrid Scurr,Sarah F. Smithson,Madeleine J. Tooley,S Abbs,Ruth Armstrong,C Dunn,Simon Holden,Soo-Mi Park,Joan Paterson,Lucy Raymond,E Reid,R Sandford,Ingrid Simonic,Marc Tischkowitz,G Woods,Lisa Bradley,J Comerford,Angie Green,Sally Ann Lynch,S McQuaid,B Mullaney,Jonathan Berg,David Goudie,E Mavrak,J McLean,C McWilliam,E Reavey,T Azam,E Cleary,Andrew Jackson,Wayne Lam,AK Lampe,David Moore,Mary E. M. Porteous,Emma L. Baple,Julia Baptista,C Brewer +102 more
TL;DR: To identify novel DD-associated genes, healthcare and research exome sequences are integrated on 31,058 DD parent-offspring trios, and a simulation-based statistical test is developed to identify gene-specific enrichments of DNMs.
Journal ArticleDOI
Muscle MRI in Ullrich congenital muscular dystrophy and Bethlem myopathy
E Mercuri,E Mercuri,AK Lampe,Joanna Allsop,R Knight,Marika Pane,Maria Kinali,Carsten G. Bönnemann,Kevin M. Flanigan,Ilaria Lapini,Kate Bushby,Guglielmina Pepe,Francesco Muntoni +12 more
TL;DR: The results suggest that muscle MR may be used, as an additional tool, to identify patients with collagen VI related disorders.