Daisy Rymen

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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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 05 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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May 2019

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

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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December 2017

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

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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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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July 2016

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

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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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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November 2015