Daisy Rymen

Daisy Rymen

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Daisy Rymen

Daisy Rymen

Publications by authors named "Daisy Rymen"

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RINT1 Bi-allelic Variations Cause Infantile-Onset Recurrent Acute Liver Failure and Skeletal Abnormalities.

Authors:
Margot A Cousin Erin Conboy Jian-She Wang Dominic Lenz Tanya L Schwab Monique Williams Roshini S Abraham Sarah Barnett Mounif El-Youssef Rondell P Graham Luz Helena Gutierrez Sanchez Linda Hasadsri Georg F Hoffmann Nathan C Hull Robert Kopajtich Reka Kovacs-Nagy Jia-Qi Li Daniela Marx-Berger Valérie McLin Mark A McNiven Taofic Mounajjed Holger Prokisch Daisy Rymen Ryan J Schulze Christian Staufner Ye Yang Karl J Clark Brendan C Lanpher Eric W Klee

Am J Hum Genet 2019 Jul 13;105(1):108-121. Epub 2019 Jun 13.

Center for Individualized Medicine, Mayo Clinic, Rochester, MN 55905, USA; Department of Health Sciences Research, Mayo Clinic, Rochester, MN 55905, USA; Department of Clinical Genomics, Mayo Clinic, Rochester, MN 55905, USA; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN 55905, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2019.05.011DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6612521PMC
July 2019

Mutations in lead to a glycosylation disorder with a variable phenotype.

Authors:
Eline Blommaert Romain Péanne Natalia A Cherepanova Daisy Rymen Frederik Staels Jaak Jaeken Valérie Race Liesbeth Keldermans Erika Souche Anniek Corveleyn Rebecca Sparkes Kaustuv Bhattacharya Christine Devalck Rik Schrijvers François Foulquier Reid Gilmore Gert Matthijs

Proc Natl Acad Sci U S A 2019 May 29;116(20):9865-9870. Epub 2019 Apr 29.

Laboratory for Molecular Diagnosis, Center for Human Genetics, KU Leuven, 3000 Leuven, Belgium;

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http://dx.doi.org/10.1073/pnas.1817815116DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6525510PMC
May 2019

Mutations in the X-linked cause a glycosylation disorder with autophagic defects.

Authors:
Maria A Rujano Magda Cannata Serio Ganna Panasyuk Romain Péanne Janine Reunert Daisy Rymen Virginie Hauser Julien H Park Peter Freisinger Erika Souche Maria Clara Guida Esther M Maier Yoshinao Wada Stefanie Jäger Nevan J Krogan Oliver Kretz Susana Nobre Paula Garcia Dulce Quelhas Thomas D Bird Wendy H Raskind Michael Schwake Sandrine Duvet Francois Foulquier Gert Matthijs Thorsten Marquardt Matias Simons

J Exp Med 2017 Dec 10;214(12):3707-3729. Epub 2017 Nov 10.

Laboratory of Epithelial Biology and Disease, Imagine Institute, Paris, France

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http://www.jem.org/lookup/doi/10.1084/jem.20170453
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http://dx.doi.org/10.1084/jem.20170453DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5716037PMC
December 2017

Defining the Phenotype and Assessing Severity in Phosphoglucomutase-1 Deficiency.

Authors:
Sunnie Yan-Wai Wong Lesa J Beamer Therese Gadomski Tomas Honzik Miski Mohamed Saskia B Wortmann Katja S Brocke Holmefjord Marit Mork Francis Bowling Jolanta Sykut-Cegielska Dieter Koch Amanda Ackermann Charles A Stanley Daisy Rymen Avraham Zeharia Moeen Al-Sayed Thomas Marquardt Jaak Jaeken Dirk Lefeber Donald F Conrad Tamas Kozicz Eva Morava

J Pediatr 2016 08 17;175:130-136.e8. Epub 2016 May 17.

Hayward Genetics Center, Tulane University School of Medicine, New Orleans, LA; Department of Pediatrics, Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1016/j.jpeds.2016.04.021DOI Listing
August 2016

ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported Patients.

Authors:
Bobby G Ng Sergey A Shiryaev Daisy Rymen Erik A Eklund Kimiyo Raymond Martin Kircher Jose E Abdenur Fusun Alehan Alina T Midro Michael J Bamshad Rita Barone Gerard T Berry Jane E Brumbaugh Kati J Buckingham Katie Clarkson F Sessions Cole Shawn O'Connor Gregory M Cooper Rudy Van Coster Laurie A Demmer Luisa Diogo Alexander J Fay Can Ficicioglu Agata Fiumara William A Gahl Rebecca Ganetzky Himanshu Goel Lyndsay A Harshman Miao He Jaak Jaeken Philip M James Daniel Katz Liesbeth Keldermans Maria Kibaek Andrew J Kornberg Katherine Lachlan Christina Lam Joy Yaplito-Lee Deborah A Nickerson Heidi L Peters Valerie Race Luc Régal Jeffrey S Rush S Lane Rutledge Jay Shendure Erika Souche Susan E Sparks Pamela Trapane Amarilis Sanchez-Valle Eric Vilain Arve Vøllo Charles J Waechter Raymond Y Wang Lynne A Wolfe Derek A Wong Tim Wood Amy C Yang Gert Matthijs Hudson H Freeze

Hum Mutat 2016 07 21;37(7):653-60. Epub 2016 Mar 21.

Human Genetics Program, Sanford Burnham Prebys Medical Discovery Institute, La Jolla, California.

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http://dx.doi.org/10.1002/humu.22983DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4907823PMC
July 2016

CCDC115 Deficiency Causes a Disorder of Golgi Homeostasis with Abnormal Protein Glycosylation.

Authors:
Jos C Jansen Sebahattin Cirak Monique van Scherpenzeel Sharita Timal Janine Reunert Stephan Rust Belén Pérez Dorothée Vicogne Peter Krawitz Yoshinao Wada Angel Ashikov Celia Pérez-Cerdá Celia Medrano Andrea Arnoldy Alexander Hoischen Karin Huijben Gerry Steenbergen Dulce Quelhas Luisa Diogo Daisy Rymen Jaak Jaeken Nathalie Guffon David Cheillan Lambertus P van den Heuvel Yusuke Maeda Olaf Kaiser Ulrike Schara Patrick Gerner Marjolein A W van den Boogert Adriaan G Holleboom Marie-Cécile Nassogne Etienne Sokal Jody Salomon Geert van den Bogaart Joost P H Drenth Martijn A Huynen Joris A Veltman Ron A Wevers Eva Morava Gert Matthijs François Foulquier Thorsten Marquardt Dirk J Lefeber

Am J Hum Genet 2016 Feb 28;98(2):310-21. Epub 2016 Jan 28.

Translational Metabolic Laboratory, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, 6525 GA Nijmegen, the Netherlands; Department of Neurology, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, 6525 GA Nijmegen, the Netherlands. Electronic address:

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http://www.cell.com/ajhg/pdf/S0002-9297(15)00505-4.pdf
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http://linkinghub.elsevier.com/retrieve/pii/S000292971500505
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http://dx.doi.org/10.1016/j.ajhg.2015.12.010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4746332PMC
February 2016

Key features and clinical variability of COG6-CDG.

Authors:
Daisy Rymen Julia Winter Peter M Van Hasselt Jaak Jaeken Cigdem Kasapkara Gulden Gokçay Hanneke Haijes Philippe Goyens Aysegul Tokatli Christian Thiel Oliver Bartsch Jochen Hecht Peter Krawitz Hubertus C M T Prinsen Eva Mildenberger Gert Matthijs Uwe Kornak

Mol Genet Metab 2015 Nov 29;116(3):163-70. Epub 2015 Jul 29.

Berlin-Brandenburg Center for Regenerative Therapies, Charité-Universitaetsmedizin Berlin, Berlin, Germany; Institute of Medical Genetics and Human Genetics, Charité-Universitaetsmedizin Berlin, Berlin, Germany; Max Planck Institute for Molecular Genetics, Berlin, Germany. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S10967192153003
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http://dx.doi.org/10.1016/j.ymgme.2015.07.003DOI Listing
November 2015

MAN1B1 deficiency: an unexpected CDG-II.

Authors:
Daisy Rymen Romain Peanne María B Millón Valérie Race Luisa Sturiale Domenico Garozzo Philippa Mills Peter Clayton Carla G Asteggiano Dulce Quelhas Ali Cansu Esmeralda Martins Marie-Cécile Nassogne Miguel Gonçalves-Rocha Haluk Topaloglu Jaak Jaeken François Foulquier Gert Matthijs

PLoS Genet 2013 12;9(12):e1003989. Epub 2013 Dec 12.

Center for Human Genetics, University of Leuven, Leuven, Belgium.

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http://dx.doi.org/10.1371/journal.pgen.1003989DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3861123PMC
August 2014

Congenital disorders of glycosylation: other causes of ichthyosis.

Authors:
Jaak Jaeken Daisy Rymen Gert Matthijs

Eur J Hum Genet 2014 Apr 31;22(4):444. Epub 2013 Jul 31.

Center for Human Genetics, KULeuven, Leuven, Belgium.

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http://www.americanchildneurologyuae.com/ar/files/neurologic
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http://www.glycoactive.com/CDGrev.pdf
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http://www.researchgate.net/profile/Peter_Kannu/publication/
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http://www.nature.com/doifinder/10.1038/ejhg.2013.168
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http://dx.doi.org/10.1038/ejhg.2013.168DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3953898PMC
April 2014

Diagnostic serum glycosylation profile in patients with intellectual disability as a result of MAN1B1 deficiency.

Authors:
Monique Van Scherpenzeel Sharita Timal Daisy Rymen Alexander Hoischen Manfred Wuhrer Agnes Hipgrave-Ederveen Stephanie Grunewald Romain Peanne Ann Saada Shimon Edvardson Sabine Grønborg George Ruijter Anna Kattentidt-Mouravieva Jaime Moritz Brum Mary-Louise Freckmann Susan Tomkins Anil Jalan Dagmar Prochazkova Nina Ondruskova Hana Hansikova Michel A Willemsen Paul J Hensbergen Gert Matthijs Ron A Wevers Joris A Veltman Eva Morava Dirk J Lefeber

Brain 2014 Apr 24;137(Pt 4):1030-8. Epub 2014 Feb 24.

1 Laboratory of Genetic, Endocrine and Metabolic Diseases, Radboud University Medical Centre, Nijmegen, The Netherlands.

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http://brain.oxfordjournals.org/content/brain/137/4/1030.ful
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http://www.brain.oxfordjournals.org/cgi/doi/10.1093/brain/aw
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http://dx.doi.org/10.1093/brain/awu019DOI Listing
April 2014

Multiple phenotypes in phosphoglucomutase 1 deficiency.

Authors:
Laura C Tegtmeyer Stephan Rust Monique van Scherpenzeel Bobby G Ng Marie-Estelle Losfeld Sharita Timal Kimiyo Raymond Ping He Mie Ichikawa Joris Veltman Karin Huijben Yoon S Shin Vandana Sharma Maciej Adamowicz Martin Lammens Janine Reunert Anika Witten Esther Schrapers Gert Matthijs Jaak Jaeken Daisy Rymen Tanya Stojkovic Pascal Laforêt François Petit Olivier Aumaître Elzbieta Czarnowska Monique Piraud Teodor Podskarbi Charles A Stanley Reuben Matalon Patricie Burda Soraya Seyyedi Volker Debus Piotr Socha Jolanta Sykut-Cegielska Francjan van Spronsen Linda de Meirleir Pietro Vajro Terry DeClue Can Ficicioglu Yoshinao Wada Ron A Wevers Dieter Vanderschaeghe Nico Callewaert Ralph Fingerhut Emile van Schaftingen Hudson H Freeze Eva Morava Dirk J Lefeber Thorsten Marquardt

N Engl J Med 2014 Feb;370(6):533-42

The authors' affiliations are listed in the Appendix.

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http://dx.doi.org/10.1056/NEJMoa1206605DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4373661PMC
February 2014

Approaches to homozygosity mapping and exome sequencing for the identification of novel types of CDG.

Authors:
Gert Matthijs Daisy Rymen María Beatriz Bistué Millón Erika Souche Valérie Race

Glycoconj J 2013 Jan 15;30(1):67-76. Epub 2012 Sep 15.

Center for Human Genetics, University of Leuven, Herestraat 49, 3000, Leuven, Belgium.

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http://dx.doi.org/10.1007/s10719-012-9445-7DOI Listing
January 2013

COG5-CDG: expanding the clinical spectrum.

Authors:
Daisy Rymen Liesbeth Keldermans Valérie Race Luc Régal Nicolas Deconinck Carlo Dionisi-Vici Cheuk-Wing Fung Luisa Sturiale Claire Rosnoblet François Foulquier Gert Matthijs Jaak Jaeken

Orphanet J Rare Dis 2012 Dec 10;7:94. Epub 2012 Dec 10.

Centre for Metabolic Diseases, University Hospital Gasthuisberg, Leuven, Belgium.

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http://ojrd.biomedcentral.com/articles/10.1186/1750-1172-7-9
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http://dx.doi.org/10.1186/1750-1172-7-94DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3697985PMC
December 2012