L
Lionel Willatt
Researcher at University of Cambridge
Publications - 37
Citations - 4578
Lionel Willatt is an academic researcher from University of Cambridge. The author has contributed to research in topics: Gene duplication & Microdeletion syndrome. The author has an hindex of 26, co-authored 37 publications receiving 4351 citations.
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Journal ArticleDOI
Recurrent Rearrangements of Chromosome 1q21.1 and Variable Pediatric Phenotypes
Heather C Mefford,Andrew J. Sharp,Carl Baker,Andy Itsara,Zhaoshi Jiang,Karen Buysse,Shuwen Huang,Viv K. Maloney,John A. Crolla,Diana Baralle,Amanda L. Collins,Catherine Mercer,Koenraad Norga,Thomy de Ravel,Koenraad Devriendt,Ernie M.H.F. Bongers,Nicole de Leeuw,William Reardon,Stefania Gimelli,Frédérique Béna,Raoul C.M. Hennekam,Raoul C.M. Hennekam,Alison Male,Lorraine Gaunt,Jill Clayton-Smith,Ingrid Simonic,Soo Mi Park,Sarju G. Mehta,Serena Nik-Zainal,C. Geoffrey Woods,Helen V. Firth,Georgina Parkin,Marco Fichera,Santina Reitano,Mariangela Lo Giudice,Kelly Li,Iris Casuga,Adam Broomer,Bernard Conrad,Markus Schwerzmann,Lorenz Räber,Sabina Gallati,Pasquale Striano,Antonietta Coppola,John Tolmie,Edward S. Tobias,Chris Lilley,Lluís Armengol,Yves Spysschaert,Patrick Verloo,Anja De Coene,Linde Goossens,Geert Mortier,Frank Speleman,Ellen van Binsbergen,Marcel R. Nelen,Ron Hochstenbach,Martin Poot,Louise Gallagher,Michael Gill,Jon McClellan,Mary Claire King,Regina Regan,Cindy Skinner,Roger E. Stevenson,Stylianos E. Antonarakis,Caifu Chen,Xavier Estivill,Björn Menten,Giorgio Gimelli,Susan M. Gribble,Stuart Schwartz,James S. Sutcliffe,Tom Walsh,Samantha J. L. Knight,Jonathan Sebat,Corrado Romano,Charles E. Schwartz,Joris A. Veltman,Bert B.A. de Vries,Joris Vermeesch,John C. K. Barber,Lionel Willatt,May Tassabehji,Evan E. Eichler,Evan E. Eichler +85 more
TL;DR: Recurrent molecular lesions that elude syndromic classification and whose disease manifestations must be considered in a broader context of development as opposed to being assigned to a specific disease are identified.
Journal ArticleDOI
Microarray based comparative genomic hybridisation (array-CGH) detects submicroscopic chromosomal deletions and duplications in patients with learning disability/mental retardation and dysmorphic features
Charles Shaw-Smith,Richard Redon,L Rickman,Marlène Rio,Lionel Willatt,Heike Fiegler,Helen V. Firth,Damien Sanlaville,R Winter,Laurence Colleaux,Martin Bobrow,Nigel P. Carter +11 more
TL;DR: It is anticipated that array-CGH will become a routine method of genome-wide screening for imbalanced rearrangements in children with learning disability and dysmorphism.
Journal ArticleDOI
Genomic and genic deletions of the FOX gene cluster on 16q24.1 and inactivating mutations of FOXF1 cause alveolar capillary dysplasia and other malformations.
Pawel Stankiewicz,Partha Sen,Samarth Bhatt,Mekayla Storer,Zhilian Xia,Bassem A. Bejjani,Zhishuo Ou,Joanna Wiszniewska,Daniel J. Driscoll,Juan Bolivar,Mislen Bauer,Elaine H. Zackai,Donna M. McDonald-McGinn,Malgorzata M.J. Nowaczyk,Mitzi L. Murray,Tamim H. Shaikh,Vicki Martin,Matthew Tyreman,Ingrid Simonic,Lionel Willatt,Joan Paterson,Sarju G. Mehta,Diana Rajan,Tomas W Fitzgerald,Susan M. Gribble,Elena Prigmore,Ankita Patel,Lisa G. Shaffer,Nigel P. Carter,Sau Wai Cheung,Claire Langston,Charles Shaw-Smith +31 more
TL;DR: Differences in microdeletions of FOXF1 were associated with hypoplastic left heart syndrome and gastrointestinal atresias, probably due to haploinsufficiency for the neighboring FOXC2 and FOXL1 genes, reveal the phenotypic consequences of gene alterations in cis.
Journal ArticleDOI
Microdeletion encompassing MAPT at chromosome 17q21.3 is associated with developmental delay and learning disability
Charles Shaw-Smith,Alan M. Pittman,Lionel Willatt,Howard Martin,L Rickman,Susan M. Gribble,Rebecca Curley,Sally Cumming,Carolyn Dunn,Dimitrios Kalaitzopoulos,K M Porter,Elena Prigmore,Ana Cristina Victorino Krepischi-Santos,Monica C. Varela,Célia Priszkulnik Koiffmann,Andrew J. Lees,Carla Rosenberg,Helen V. Firth,Rohan de Silva,Nigel P. Carter +19 more
TL;DR: It is shown that, in each trio, the parent of origin of the deleted chromosome 17 carries at least one H2 chromosome and this region of 17q21.3 shows complex genomic architecture with well-described low-copy repeats (LCRs).
Journal ArticleDOI
Further delineation of the 15q13 microdeletion and duplication syndromes: a clinical spectrum varying from non-pathogenic to a severe outcome
B W M van Bon,Heather C Mefford,Björn Menten,David A. Koolen,Andrew J. Sharp,Willy M. Nillesen,Jeffrey W. Innis,T.J.L. de Ravel,Catherine Mercer,Marco Fichera,H. Stewart,L E Connell,Katrin Õunap,K Lachlan,B Castle,N. Van der Aa,C M A van Ravenswaaij,Marcelo A. Nobrega,Clara Serra-Juhé,Ingrid Simonic,N. de Leeuw,R. Pfundt,Ernie M.H.F. Bongers,Carl Baker,P Finnemore,S Huang,Viv K. Maloney,John A. Crolla,M van Kalmthout,Maurizio Elia,Geert Vandeweyer,J. P. Fryns,Sandra Janssens,Nicola Foulds,Santina Reitano,K Smith,Sven Parkel,Bart Loeys,Christopher Geoffrey Woods,A Oostra,Franki Speleman,Alexandre C. Pereira,Ants Kurg,Lionel Willatt,Samantha J. L. Knight,Joris Vermeesch,Corrado Romano,John C. K. Barber,Geert Mortier,Luis A. Pérez-Jurado,F Kooy,Han G. Brunner,Evan E. Eichler,Tjitske Kleefstra,B. B. A. De Vries +54 more
TL;DR: The findings broaden the phenotypic spectrum associated with 15q13.3 deletions and suggest that, in some individuals, deletion of 15q 13.3 is not sufficient to cause disease.