M
Melissa Lees
Researcher at Great Ormond Street Hospital
Publications - 57
Citations - 3313
Melissa Lees is an academic researcher from Great Ormond Street Hospital. The author has contributed to research in topics: Mutation & Missense mutation. The author has an hindex of 28, co-authored 54 publications receiving 2745 citations. Previous affiliations of Melissa Lees include Boston Children's Hospital & Great Ormond Street Hospital for Children NHS Foundation Trust.
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Journal ArticleDOI
Highly conserved non-coding elements on either side of SOX9 associated with Pierre Robin sequence.
Sabina Benko,J. Fantes,Jeanne Amiel,Dirk-Jan Kleinjan,Sophie Thomas,Jacqueline Ramsay,Negar Jamshidi,Abdelkader Essafi,Simon Heaney,Christopher T. Gordon,David McBride,Christelle Golzio,Malcolm E. Fisher,Paul Perry,Véronique Abadie,Véronique Abadie,Carmen Ayuso,Muriel Holder-Espinasse,Nicky Kilpatrick,Melissa Lees,Arnaud Picard,I. Karen Temple,Paul Q. Thomas,M.-P. Vazquez,Michel Vekemans,Michel Vekemans,Hugues Roest Crollius,Nicholas D. Hastie,Arnold Munnich,Arnold Munnich,Heather C. Etchevers,Anna Pelet,Peter G. Farlie,David R. FitzPatrick,Stanislas Lyonnet,Stanislas Lyonnet +35 more
TL;DR: Several lines of evidence for the existence of a 17q24 locus underlying Pierre Robin sequence are reported, including linkage analysis results, a clustering of translocation breakpoints, and a heterozygous point mutation in an evolutionarily conserved region of DNA with in vitro and in vivo features of a developmental enhancer.
Journal ArticleDOI
Mutations in the transmembrane natriuretic peptide receptor NPR-B impair skeletal growth and cause acromesomelic dysplasia, type Maroteaux
Cynthia F. Bartels,Hulya Bukulmez,Hulya Bukulmez,Pius S. Padayatti,David K. Rhee,Conny M. A. van Ravenswaaij-Arts,Richard M. Pauli,Stefan Mundlos,David Chitayat,Ling Yu Shih,Lihadh Al-Gazali,Sarina G. Kant,Trevor Cole,Jenny Morton,Valérie Cormier-Daire,Laurence Faivre,Melissa Lees,Jeremy Kirk,Geert Mortier,Jules G. Leroy,Bernhard Zabel,Chong Ae Kim,Yanick J. Crow,Nancy Braverman,Focco van den Akker,Matthew L. Warman,Matthew L. Warman +26 more
TL;DR: It is concluded that, although NPR-B is expressed in a number of tissues, its major role is in the regulation of skeletal growth.
Journal ArticleDOI
Mutations in lectin complement pathway genes COLEC11 and MASP1 cause 3MC syndrome
Caroline Rooryck,Anna Diaz-Font,Daniel P. S. Osborn,Elyes Chabchoub,Victor Hernandez-Hernandez,Hanan E. Shamseldin,Joanna Kenny,Aoife M. Waters,Dagan Jenkins,Ali Al Kaissi,Gabriela F Leal,Bruno Dallapiccola,Franco Carnevale,Maria Bitner-Glindzicz,Melissa Lees,Raoul C.M. Hennekam,Philip Stanier,Alan J. Burns,Hilde Peeters,Fowzan S. Alkuraya,Fowzan S. Alkuraya,Philip L. Beales +21 more
TL;DR: A role for complement pathway factors in fundamental developmental processes and in the etiology of 3MC syndrome are demonstrated and it is shown that CL-K1 serves as a guidance cue for neural crest cell migration.
Journal ArticleDOI
Dominant missense mutations in ABCC9 cause Cantú syndrome
Magdalena Harakalova,Jeske J.T. van Harssel,Paulien A Terhal,Stef van Lieshout,Karen Duran,Ivo Renkens,David J. Amor,David J. Amor,Louise C. Wilson,Edwin P. Kirk,Claire L. S. Turner,Debbie Shears,Sixto García-Miñaur,Melissa Lees,Alison Ross,Hanka Venselaar,Gert Vriend,Hiroki Takanari,Martin B. Rook,Marcel A.G. van der Heyden,Folkert W. Asselbergs,Hans M P J Breur,Marielle E M Swinkels,Ingrid Scurr,Sarah F. Smithson,Nine V A M Knoers,Jasper J. van der Smagt,Isaac J. Nijman,Wigard P. Kloosterman,Mieke M. van Haelst,Mieke M. van Haelst,Gijs van Haaften,Edwin Cuppen,Edwin Cuppen +33 more
TL;DR: Using electrophysiological measurements, it is shown that mutations in ABCC9 reduce the ATP-mediated potassium channel inhibition, resulting in channel opening, and similarities between the phenotype of individuals with Cantú syndrome and side effects from the KATP channel agonist minoxidil indicate that the mutations inABCC9 result in channelOpening.
Journal ArticleDOI
CEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disorders.
Francesco Brancati,Giuseppe Barrano,Jennifer L. Silhavy,Sarah E. Marsh,Lorena Travaglini,Stephanie L. Bielas,Maria Amorini,Dominika Zablocka,Hülya Kayserili,Lihadh Al-Gazali,Enrico Bertini,Eugen Boltshauser,Marc D'Hooghe,Elisa Fazzi,Elif Yosunkaya Fenerci,Raoul C.M. Hennekam,Andrea Kiss,Melissa Lees,Elysa J. Marco,Shubha R. Phadke,Luciana Rigoli,S. Romano,Carmelo Salpietro,Elliott H. Sherr,Sabrina Signorini,Petter Strømme,Bernard Stuart,László Sztriha,David Viskochil,Adnan Yuksel,Bruno Dallapiccola,Enza Maria Valente,Joseph G. Gleeson +32 more
TL;DR: One patient with mutation displayed complete situs inversus, confirming the clinical and genetic overlap between JSRDs and other ciliopathies, and suggest that CEP290 mutations are frequently encountered and are largely specific to the JSRD-SLS subtype.