S
Soo Mi Park
Researcher at Cambridge University Hospitals NHS Foundation Trust
Publications - 13
Citations - 2011
Soo Mi Park is an academic researcher from Cambridge University Hospitals NHS Foundation Trust. The author has contributed to research in topics: Intellectual disability & Medicine. The author has an hindex of 8, co-authored 9 publications receiving 1826 citations. Previous affiliations of Soo Mi Park include University of Cambridge.
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Journal ArticleDOI
The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data
Sebastian Köhler,Sandra C. Doelken,Christopher J. Mungall,Sebastian Bauer,Helen V. Firth,Helen V. Firth,Isabelle Bailleul-Forestier,Graeme C.M. Black,Danielle L. Brown,Michael Brudno,Jennifer Campbell,Jennifer Campbell,David R. FitzPatrick,Janan T. Eppig,Andrew P. Jackson,Kathleen Freson,Marta Girdea,Ingo Helbig,Jane A. Hurst,Johanna A. Jähn,Laird G. Jackson,Anne M. Kelly,David H. Ledbetter,Sahar Mansour,Christa Lese Martin,Celia Moss,Andrew D Mumford,Willem H. Ouwehand,Willem H. Ouwehand,Soo Mi Park,Erin Rooney Riggs,Richard H. Scott,Sanjay M. Sisodiya,Steven Van Vooren,Ronald J. Wapner,Andrew O.M. Wilkie,Caroline F. Wright,Anneke T. Vulto-van Silfhout,Nicole de Leeuw,Bert B.A. de Vries,Nicole L. Washingthon,Cynthia L. Smith,Monte Westerfield,Paul N. Schofield,Barbara J. Ruef,Georgios V. Gkoutos,Melissa A. Haendel,Damian Smedley,Suzanna E. Lewis,Peter N. Robinson,Peter N. Robinson +50 more
TL;DR: The updated HPO database is described, which provides annotations of 7,278 human hereditary syndromes listed in OMIM, Orphanet and DECIPHER to classes of the HPO, allowing integration of existing datasets and interoperability with multiple biomedical resources.
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
How genetically heterogeneous is Kabuki syndrome?: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrum
Siddharth Banka,Ratna Veeramachaneni,William Reardon,Emma Howard,Sancha Bunstone,Nicola Ragge,Michael Parker,Yanick J. Crow,Bronwyn Kerr,Helen Kingston,Kay Metcalfe,Kate Chandler,Alex Magee,Fiona Stewart,Vivienne McConnell,Deirdre E. Donnelly,Siren Berland,Gunnar Houge,Jenny Morton,Christine Oley,Nicole Revencu,Soo Mi Park,Sally J. Davies,Andrew E. Fry,Sally Ann Lynch,Harinder Gill,Susann Schweiger,Wayne W.K. Lam,John Tolmie,Shehla Mohammed,Emma Hobson,Audrey Smith,Moira Blyth,Christopher P. Bennett,Pradeep Vasudevan,Sixto García-Miñaur,Alex Henderson,Judith A. Goodship,Michael Wright,Richard Fisher,Richard Gibbons,Susan Price,Deepthi De Silva,I. Karen Temple,Amanda L. Collins,Katherine Lachlan,Frances Elmslie,Meriel McEntagart,Bruce Castle,Jill Clayton-Smith,Graeme C.M. Black,Dian Donnai +51 more
TL;DR: The largest yet reported cohort of 116 patients with Kabuki syndrome is presented, and the analyses of the phenotype indicates that MLL2 mutation-positive and -negative patients differ systematically, and genetic heterogeneity of KS is not as extensive as previously suggested.
Journal ArticleDOI
Exonic Deletions in AUTS2 Cause a Syndromic Form of Intellectual Disability and Suggest a Critical Role for the C Terminus
Gea Beunders,Els Voorhoeve,Christelle Golzio,Luba M. Pardo,Jill A. Rosenfeld,Michael E. Talkowski,Michael E. Talkowski,Ingrid Simonic,Anath C. Lionel,Anath C. Lionel,Sarah Vergult,Robert E. Pyatt,Robert E. Pyatt,Jiddeke M. van de Kamp,Aggie W. M. Nieuwint,Marjan M. Weiss,Patrizia Rizzu,Lucilla E.N.I. Verwer,Rosalina M. L. van Spaendonk,Yiping Shen,Yiping Shen,Yiping Shen,Bai-Lin Wu,Bai-Lin Wu,Tingting Yu,Tingting Yu,Yongguo Yu,Yongguo Yu,Colby Chiang,James F. Gusella,James F. Gusella,Amelia M. Lindgren,Amelia M. Lindgren,Cynthia C. Morton,Cynthia C. Morton,Cynthia C. Morton,Ellen van Binsbergen,Saskia Bulk,Els Van Rossem,Olivier Vanakker,Ruth Armstrong,Soo Mi Park,Lynn Greenhalgh,Una Maye,Nicholas J. Neill,Kristin M. Abbott,Susan Sell,Roger L. Ladda,Darren Farber,Patricia I. Bader,Tom Cushing,Joanne M. Drautz,Laura Konczal,Patricia L. Nash,Emily de los Reyes,Melissa T. Carter,Elizabeth Hopkins,Christian R. Marshall,Christian R. Marshall,Lucy R. Osborne,Karen W. Gripp,Devon Lamb Thrush,Devon Lamb Thrush,Sayaka Hashimoto,Julie M. Gastier-Foster,Julie M. Gastier-Foster,Caroline Astbury,Caroline Astbury,Bauke Ylstra,Hanne Meijers-Heijboer,Danielle Posthuma,Danielle Posthuma,Danielle Posthuma,Björn Menten,Geert Mortier,Stephen W. Scherer,Stephen W. Scherer,Evan E. Eichler,Santhosh Girirajan,Santhosh Girirajan,Nicholas Katsanis,Alexander J. Groffen,Alexander J. Groffen,Erik A. Sistermans +83 more
TL;DR: The observations demonstrate a causal role of AUTS2 in neurocognitive disorders, establish a hitherto unappreciated syndromic phenotype at this locus, and show how transcriptional complexity can underpin human pathology.
Journal ArticleDOI
Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism
Morad Ansari,Gemma Poke,Quentin R. V. Ferry,Kathleen A. Williamson,R. B. Aldridge,Alison M. Meynert,Hemant Bengani,Cheng Yee Chan,Hülya Kayserili,Sahin Avci,Raoul C.M. Hennekam,AK Lampe,Egbert J.W. Redeker,Tessa Homfray,Alison Ross,Marie Falkenberg Smeland,Sahar Mansour,Michael Parker,Jacqueline Cook,Miranda Splitt,Richard Fisher,Alan Fryer,Alex Magee,Andrew O.M. Wilkie,Angela Barnicoat,Angela F. Brady,Nicola S. Cooper,Catherine Mercer,Charu Deshpande,Christopher P. Bennett,Daniela T. Pilz,Deborah Ruddy,Deirdre Cilliers,Diana Johnson,Dragana Josifova,Elisabeth Rosser,Elizabeth Thompson,Emma Wakeling,Esther Kinning,Fiona Stewart,Frances Flinter,Katta M. Girisha,Helen Cox,Helen V. Firth,Helen Kingston,Jamie S. Wee,Jane A. Hurst,Jill Clayton-Smith,John Tolmie,Julie Vogt,Katrina Tatton-Brown,Kate Chandler,Katrina Prescott,Louise C. Wilson,Mahdiyeh Behnam,Meriel McEntagart,Rosemarie Davidson,Sally Ann Lynch,Sanjay M. Sisodiya,Sarju G. Mehta,Shane McKee,Shehla Mohammed,Simon Holden,Soo Mi Park,Susan E. Holder,Victoria Harrison,Vivienne McConnell,Wayne K. Lam,Andrew Green,Dian Donnai,Maria Bitner-Glindzicz,Deirdre E. Donnelly,Christoffer Nellåker,Martin S. Taylor,David R. FitzPatrick +74 more
TL;DR: Future diagnostic testing in ‘mutation-negative’ CdLS thus merits deeper sequencing of multiple DNA samples derived from different tissues supporting the existence of undetected mosaic cases.