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Annelies Dheedene
Researcher at Ghent University Hospital
Publications - 45
Citations - 1719
Annelies Dheedene is an academic researcher from Ghent University Hospital. The author has contributed to research in topics: Intellectual disability & Massive parallel sequencing. The author has an hindex of 18, co-authored 42 publications receiving 1300 citations. Previous affiliations of Annelies Dheedene include Ghent University.
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Journal ArticleDOI
The need for transparency and good practices in the qPCR literature
Stephen A. Bustin,Vladimir Benes,Jeremy A. Garson,Jan Hellemans,Jim F. Huggett,Mikael Kubista,Reinhold Mueller,Tania Nolan,Michael W. Pfaffl,Gregory L. Shipley,Carl T. Wittwer,Peter Schjerling,Philip J. R. Day,Mónica Abreu,Begoña Aguado,Jean-François Beaulieu,Anneleen Beckers,Sara Bogaert,John A. Browne,Fernando Carrasco-Ramiro,Liesbeth Ceelen,Kate L. Ciborowski,Pieter Cornillie,Stephanie Coulon,Ann Cuypers,Sara De Brouwer,Leentje De Ceuninck,Jurgen De Craene,Hélène De Naeyer,Ward De Spiegelaere,Kato Deckers,Annelies Dheedene,Kaat Durinck,Margarida Ferreira-Teixeira,Annelies Fieuw,Jack M. Gallup,Sandra Gonzalo-Flores,Karen Goossens,Femke Heindryckx,Elizabeth Herring,Hans Hoenicka,Laura Icardi,Rolf Jaggi,Farzad Javad,Michael Karampelias,Frederick S. B. Kibenge,Molly J. T. Kibenge,Candy Kumps,Irina Lambertz,Tim Lammens,Amelia Markey,Peter Messiaen,Evelien Mets,Sofia Morais,Alberto Mudarra-Rubio,Justine K. Nakiwala,Hilde Nelis,Pål A. Olsvik,Claudina Perez-Novo,Michelle Plusquin,Tony Remans,Ali Rihani,Paulo Rodrigues-Santos,Pieter Rondou,Rebecca Sanders,Katharina Schmidt-Bleek,Kerstin Skovgaard,Karen Smeets,Laura Tabera,Stefan Toegel,Tim Van Acker,Wim Van den Broeck,Joni Van der Meulen,Mireille Van Gele,Gert Van Peer,Mario Van Poucke,Nadine Van Roy,Sarah Vergult,Joris Wauman,Marina Tshuikina-Wiklander,Erik Willems,Sara Zaccara,Fjoralba Zeka,Jo Vandesompele +83 more
TL;DR: Two surveys of over 1,700 publications whose authors use quantitative real-time PCR (qPCR) reveal a lack of transparent and comprehensive reporting of essential technical information.
Journal ArticleDOI
The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies
Claire Redin,Claire Redin,Harrison Brand,Harrison Brand,Ryan L. Collins,Ryan L. Collins,Tammy Kammin,Elyse Mitchell,Jennelle C. Hodge,Jennelle C. Hodge,Jennelle C. Hodge,Carrie Hanscom,Carrie Hanscom,Vamsee Pillalamarri,Vamsee Pillalamarri,Catarina M. Seabra,Catarina M. Seabra,Catarina M. Seabra,Mary-Alice Abbott,Omar A. Abdul-Rahman,Erika Aberg,Rhett Adley,Sofia L. Alcaraz-Estrada,Fowzan S. Alkuraya,Yu An,Yu An,Mary-Anne Anderson,Caroline Antolik,Caroline Antolik,Kwame Anyane-Yeboa,Joan F. Atkin,Joan F. Atkin,Tina M. Bartell,Jonathan A. Bernstein,Elizabeth Beyer,Elizabeth Beyer,Ian Blumenthal,Ernie M.H.F. Bongers,Eva H. Brilstra,Chester W. Brown,Chester W. Brown,Hennie T. Brüggenwirth,Bert Callewaert,Colby Chiang,Ken Corning,Helen Cox,Edwin Cuppen,Benjamin Currall,Tom Cushing,Dezso David,Matthew A. Deardorff,Annelies Dheedene,Marc D'Hooghe,Bert B.A. de Vries,Dawn L. Earl,Heather L. Ferguson,Heather Fisher,David R. FitzPatrick,Pamela Gerrol,Daniela Giachino,Joseph T. Glessner,Joseph T. Glessner,Troy J. Gliem,Margo Grady,Brett H. Graham,Cristin Griffis,Cristin Griffis,Karen W. Gripp,Andrea L. Gropman,Andrea Hanson-Kahn,David J. Harris,Mark A. Hayden,Rosamund Hill,Ron Hochstenbach,Jodi D. Hoffman,Robert J. Hopkin,Robert J. Hopkin,Monika Weisz Hubshman,Monika Weisz Hubshman,A. Micheil Innes,Mira Irons,Melita Irving,Jessie C. Jacobsen,Sandra Janssens,Tamison Jewett,John P. Johnson,Marjolijn C.J. Jongmans,Stephen G. Kahler,David A. Koolen,Jerome Korzelius,Peter M. Kroisel,Yves Lacassie,William Lawless,Emmanuelle Lemyre,Kathleen A. Leppig,Kathleen A. Leppig,Alex V. Levin,Haibo Li,Hong Li,Eric C. Liao,Cynthia Lim,Edward J. Lose,Diane Lucente,Michael J. Macera,Poornima Manavalan,Giorgia Mandrile,Carlo Marcelis,Lauren Margolin,Tamara Mason,Diane Masser-Frye,Michael W. McClellan,Cinthya J Zepeda Mendoza,Björn Menten,Sjors Middelkamp,Liya R Mikami,Emily Moe,Emily Moe,Shehla Mohammed,Tarja Mononen,Megan Mortenson,Megan Mortenson,Graciela Moya,Aggie W. M. Nieuwint,Zehra Ordulu,Sandhya Parkash,Sandhya Parkash,Susan P. Pauker,Shahrin Pereira,Danielle Perrin,Katy Phelan,Raul Eduardo Pina Aguilar,Pino J. Poddighe,Giulia Pregno,Salmo Raskin,Linda M. Reis,Linda M. Reis,William J. Rhead,William J. Rhead,Debra Rita,Ivo Renkens,Filip Roelens,Jayla Ruliera,Patrick Rump,Samantha L.P. Schilit,Ranad Shaheen,Rebecca Sparkes,Erica Spiegel,Blair Stevens,Matthew R. Stone,Matthew R. Stone,Julia Tagoe,Joseph V. Thakuria,Bregje W.M. van Bon,Jiddeke M. van de Kamp,Ineke van der Burgt,Ton van Essen,Conny M. A. van Ravenswaaij-Arts,Markus J. van Roosmalen,Sarah Vergult,Catharina M L Volker-Touw,Dorothy Warburton,Matthew J. Waterman,Matthew J. Waterman,Susan Wiley,Anna Wilson,Maria de la Concepcion A Yerena-de Vega,Roberto T. Zori,Brynn Levy,Han G. Brunner,Han G. Brunner,Nicole de Leeuw,Wigard P. Kloosterman,Erik C. Thorland,Cynthia C. Morton,Cynthia C. Morton,Cynthia C. Morton,James F. Gusella,James F. Gusella,Michael E. Talkowski,Michael E. Talkowski +179 more
TL;DR: It is proposed that sequence-level resolution dramatically improves prediction of clinical outcomes for balanced rearrangements and provides insight into new pathogenic mechanisms, such as altered regulation due to changes in chromosome topology.
Journal ArticleDOI
A Mutation in CABP2, Expressed in Cochlear Hair Cells, Causes Autosomal-Recessive Hearing Impairment
Isabelle Schrauwen,Sarah Helfmann,Akira Inagaki,Friederike Predoehl,Mohammad Amin Tabatabaiefar,Mohammad Amin Tabatabaiefar,Maria Magdalena Picher,Manou Sommen,Celia Zazo Seco,Jaap Oostrik,Hannie Kremer,Annelies Dheedene,Charlotte Claes,Erik Fransen,Morteza Hashemzadeh Chaleshtori,Paul Coucke,Amy S. Lee,Tobias Moser,Guy Van Camp +18 more
TL;DR: It is shown that genetic defects in CABP2 cause moderate-to-severe sensorineural hearing impairment and might cause a hypofunctional CaBP2 defective in Ca(2+) sensing and effector regulation in the inner ear.
Journal ArticleDOI
Shallow Whole Genome Sequencing on Circulating Cell-Free DNA Allows Reliable Noninvasive Copy-Number Profiling in Neuroblastoma Patients
Nadine Van Roy,Malaïka Van Der Linden,Björn Menten,Annelies Dheedene,Charlotte Vandeputte,Jo Van Dorpe,Genevieve Laureys,Genevieve Laureys,Marleen Renard,Tom Sante,Tim Lammens,Tim Lammens,Bram De Wilde,Bram De Wilde,Franki Speleman,Katleen De Preter +15 more
TL;DR: Testing whether the analysis of circulating cell-free DNA present in plasma samples of patients with NB could offer a valuable alternative to primary tumor DNA for CNA profiling found it to be a cost-effective, noninvasive, rapid, robust and sensitive alternative.
Journal ArticleDOI
Deficiency for the ER-stress transducer OASIS causes severe recessive osteogenesis imperfecta in humans
Sofie Symoens,Fransiska Malfait,Sanne D'hondt,Bert Callewaert,Annelies Dheedene,Wouter Steyaert,Hans Peter Bächinger,Hans Peter Bächinger,Anne De Paepe,Hülya Kayserili,Paul Coucke +10 more
TL;DR: This is the first report linking CREB3L1 to human recessive OI, thereby expanding the OI gene spectrum and detecting a homozygous genomic deletion of CREB 3L1 in a family with severe OI.