Publications by authors named "Annelies Dheedene"

31 Publications

Microcoria due to first duplication of 13q32.1 including the GPR180 gene and maternal mosaicism.

Eur J Med Genet 2020 May 19;63(5):103918. Epub 2020 Mar 19.

Department of Ophthalmology, Children Hospital Queen Fabiola, Brussels, Belgium; Department of Ophthalmology, Ghent University Hospital, Belgium; Department of Ophthalmology, Leuven University Hospital, Belgium. Electronic address:

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May 2020

Detection of Copy Number Alterations by Shallow Whole-Genome Sequencing of Formalin-Fixed, Paraffin-Embedded Tumor Tissue.

Arch Pathol Lab Med 2019 Dec 17. Epub 2019 Dec 17.

From the Department of Pathology (Ms Van der Linden, Mr Raman, and Drs Creytens and Van Dorpe), the Center for Medical Genetics Ghent (Messrs Vander Trappen and De Smet and Drs Dheedene, Sante, Menten and Van Roy), and the Department of Radiation Oncology (Dr Lievens), Ghent University Hospital, Ghent, Belgium; and Cancer Research Institute Ghent, Ghent, Belgium (Ms Van der Linden and Drs Creytens, Lievens, Menten, Van Dorpe, and Van Roy).

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December 2019

Detection of a Large Novel α-Thalassemia Deletion in an Autochthonous Belgian Family.

Hemoglobin 2019 Mar 21;43(2):112-115. Epub 2019 Jun 21.

a Department of Laboratory Medicine , General Hospital Maria Middelares , Ghent , Belgium.

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March 2019

PREFACE: In silico pipeline for accurate cell-free fetal DNA fraction prediction.

Prenat Diagn 2019 09 11;39(10):925-933. Epub 2019 Jul 11.

Center for Medical Genetics, Ghent University, Ghent University Hospital, Ghent, Belgium.

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September 2019

WisecondorX: improved copy number detection for routine shallow whole-genome sequencing.

Nucleic Acids Res 2019 02;47(4):1605-1614

Center for Medical Genetics Ghent, Ghent University, Ghent University Hospital, Ghent, Belgium.

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February 2019

Confirmation of an ARID2 defect in SWI/SNF-related intellectual disability.

Am J Med Genet A 2017 Nov 8;173(11):3104-3108. Epub 2017 Sep 8.

Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.

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November 2017

The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies.

Authors:
Claire Redin Harrison Brand Ryan L Collins Tammy Kammin Elyse Mitchell Jennelle C Hodge Carrie Hanscom Vamsee Pillalamarri Catarina M Seabra Mary-Alice Abbott Omar A Abdul-Rahman Erika Aberg Rhett Adley Sofia L Alcaraz-Estrada Fowzan S Alkuraya Yu An Mary-Anne Anderson Caroline Antolik Kwame Anyane-Yeboa Joan F Atkin Tina Bartell Jonathan A Bernstein Elizabeth Beyer Ian Blumenthal Ernie M H F Bongers Eva H Brilstra Chester W Brown Hennie T Brüggenwirth Bert Callewaert Colby Chiang Ken Corning Helen Cox Edwin Cuppen Benjamin B 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 Troy Gliem Margo Grady Brett H Graham 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 Monika W Hubshman A Micheil Innes Mira Irons Melita Irving Jessie C Jacobsen Sandra Janssens Tamison Jewett John P Johnson Marjolijn C Jongmans Stephen G Kahler David A Koolen Jerome Korzelius Peter M Kroisel Yves Lacassie William Lawless Emmanuelle Lemyre Kathleen 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 L Marcelis Lauren Margolin Tamara Mason Diane Masser-Frye Michael W McClellan Cinthya J Zepeda Mendoza Björn Menten Sjors Middelkamp Liya R Mikami Emily Moe Shehla Mohammed Tarja Mononen Megan E Mortenson Graciela Moya Aggie W Nieuwint Zehra Ordulu Sandhya Parkash Susan P Pauker Shahrin Pereira Danielle Perrin Katy Phelan Raul E Piña Aguilar Pino J Poddighe Giulia Pregno Salmo Raskin Linda Reis William 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 Julia Tagoe Joseph V Thakuria Bregje W van Bon Jiddeke van de Kamp Ineke van Der Burgt Ton van Essen Conny M van Ravenswaaij-Arts Markus J van Roosmalen Sarah Vergult Catharina M L Volker-Touw Dorothy P Warburton Matthew J Waterman Susan Wiley Anna Wilson Maria de la Concepcion A Yerena-de Vega Roberto T Zori Brynn Levy Han G Brunner Nicole de Leeuw Wigard P Kloosterman Erik C Thorland Cynthia C Morton James F Gusella Michael E Talkowski

Nat Genet 2017 01 14;49(1):36-45. Epub 2016 Nov 14.

Molecular Neurogenetics Unit, Center for Human Genetic Research, Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts, USA.

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January 2017

Implementation of non-invasive prenatal testing by semiconductor sequencing in a genetic laboratory.

Prenat Diagn 2016 Aug 1;36(8):699-707. Epub 2016 Jul 1.

Center for Medical Genetics Ghent, Ghent University Hospital, Ghent University, Ghent, Belgium.

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August 2016

Mutations in the latent TGF-beta binding protein 3 (LTBP3) gene cause brachyolmia with amelogenesis imperfecta.

Hum Mol Genet 2015 Jun 10;24(11):3038-49. Epub 2015 Feb 10.

Université de Strasbourg, Laboratoire de Génétique Médicale, INSERM UMR 1112, Faculté de Médecine, FMTS, 11 rue Humann 67000 Strasbourg, France Université de Strasbourg, Laboratoire de Génétique Médicale, INSERM UMR 1112, Faculté de Médecine, FMTS, 11 rue Humann 67000 Strasbourg, France Université de Strasbourg, Laboratoire de Génétique Médicale, INSERM UMR 1112, Faculté de Médecine, FMTS, 11 rue Humann 67000 Strasbourg, France

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June 2015

Role of CGH array in the diagnosis of autosomal recessive disease: a case of Ellis-van Creveld syndrome.

Prenat Diagn 2015 Jan 2;35(1):97-9. Epub 2014 Oct 2.

Department of Obstetrics and Gynecology, University Hospital Brugmann, Brussels, Belgium; Department of Obstetrics, Gynecology and Urologic Sciences, Sapienza University, Umberto I Hospital, Rome, Italy.

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January 2015

Genomic aberrations of the CACNA2D1 gene in three patients with epilepsy and intellectual disability.

Eur J Hum Genet 2015 May 30;23(5):628-32. Epub 2014 Jul 30.

Center for Medical Genetics, Ghent University, Ghent University Hospital, Ghent, Belgium.

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May 2015

The need for transparency and good practices in the qPCR literature.

Nat Methods 2013 Nov;10(11):1063-7

Postgraduate Medical Institute, Anglia Ruskin University, Chelmsford, UK.

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November 2013