P
Paul Coucke
Researcher at Ghent University
Publications - 238
Citations - 13452
Paul Coucke is an academic researcher from Ghent University. The author has contributed to research in topics: Pseudoxanthoma elasticum & Gene. The author has an hindex of 55, co-authored 212 publications receiving 11905 citations. Previous affiliations of Paul Coucke include Ghent University Hospital & Baylor College of Medicine.
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Journal ArticleDOI
DNA Diagnostics of Hereditary Hearing Loss: A Targeted Resequencing Approach Combined with a Mutation Classification System
Manou Sommen,Isabelle Schrauwen,Isabelle Schrauwen,Geert Vandeweyer,Nele Boeckx,Jason J. Corneveaux,Jenneke van den Ende,An Boudewyns,Els De Leenheer,Sandra Janssens,Kathleen Claes,M. Verstreken,Nicola Strenzke,Friederike Predöhl,Wim Wuyts,Geert Mortier,Maria Bitner-Glindzicz,Tobias Moser,Paul Coucke,Matthew J. Huentelman,Guy Van Camp +20 more
TL;DR: A targeted resequencing panel for hearing loss was developed including 79 genes for NSHL and selected forms of syndromic hearing loss, and a straightforward variant classification system was established to deal with the large number of variants encountered.
Journal ArticleDOI
IRF2BPL Is Associated with Neurological Phenotypes.
Paul C. Marcogliese,Vandana Shashi,Rebecca C. Spillmann,Nicholas Stong,Jill A. Rosenfeld,Mary Kay Koenig,Julian A. Martinez-Agosto,Matthew Herzog,Agnes Chen,Patricia I. Dickson,Henry J. Lin,Moin Vera,Noriko Salamon,John M. Graham,Damara Ortiz,Elena Infante,Wouter Steyaert,Bart Dermaut,Bruce Poppe,Hyunglok Chung,Zhen Zuo,Pei-Tseng Lee,Oguz Kanca,Fan Xia,Yaping Yang,Edward C. Smith,Joan Jasien,Sujay Kansagra,Gail A. Spiridigliozzi,Mays A. El-Dairi,Robert K. Lark,Kacie Riley,Dwight D. Koeberl,Katie Golden-Grant,Steven Callens,Paul Coucke,Dimitri Hemelsoet,Wim Terryn,Rudy Van Coster,David R. Adams,Mercedes E. Alejandro,Patrick Allard,Mahshid S. Azamian,Carlos A. Bacino,Ashok Balasubramanyam,Hayk Barseghyan,Gabriel F. Batzli,Alan H. Beggs,Babak Behnam,Anna Bican,David P. Bick,Camille L. Birch,Devon Bonner,Braden E. Boone,Bret L. Bostwick,Lauren C. Briere,Donna M. Brown,Matthew H. Brush,Elizabeth A. Burke,Lindsay C. Burrage,Shan Chen,Gary D. Clark,Terra R. Coakley,Joy D. Cogan,Cynthia M. Cooper,Heidi Cope,William J. Craigen,Precilla D'Souza,Mariska Davids,Jyoti G. Dayal,Esteban C. Dell'Angelica,Shweta U. Dhar,Ani Dillon,Katrina M. Dipple,Laurel A. Donnell-Fink,Naghmeh Dorrani,Daniel C. Dorset,Emilie D. Douine,David D. Draper,David J. Eckstein,Lisa Emrick,Christine M. Eng,Ascia Eskin,Cecilia Esteves,Tyra Estwick,Carlos Ferreira,Brent L. Fogel,Noah D. Friedman,William A. Gahl,Emily Glanton,Rena A. Godfrey,David Goldstein,Sarah E. Gould,Jean-Philippe F. Gourdine,Catherine Groden,Andrea L. Gropman,Melissa A. Haendel,Rizwan Hamid,Neil A. Hanchard,Lori H. Handley,Matthew R. Herzog,Ingrid A. Holm,Jason Hom,Ellen M. Howerton,Yong Huang,Howard J. Jacob,Mahim Jain,Yong-hui Jiang,Jean M. Johnston,Angela Jones,Isaac S. Kohane,Donna M. Krasnewich,Elizabeth L. Krieg,Joel B. Krier,Seema R. Lalani,C. Christopher Lau,Jozef Lazar,Brendan Lee,Hane Lee,Shawn Levy,Richard A. Lewis,Sharyn A. Lincoln,Allen Lipson,Sandra K. Loo,Joseph Loscalzo,Richard L. Maas,Ellen Macnamara,Calum A. MacRae,Valerie Maduro,Marta M. Majcherska,May Christine V. Malicdan,Laura A. Mamounas,Teri A. Manolio,Thomas C. Markello,Ronit Marom,Shruti Marwaha,Thomas May,Allyn McConkie-Rosell,Colleen E. McCormack,Alexa T. McCray,Matthew Might,Paolo Moretti,Marie Morimoto,John J.E. Mulvihill,Jennifer L. Murphy,Donna M. Muzny,Michele Nehrebecky,Stan F. Nelson,J. Scott Newberry,John H. Newman,Sarah K. Nicholas,Donna Novacic,Jordan S. Orange,J. Carl Pallais,Christina G.S. Palmer,Jeanette C. Papp,Neil H. Parker,Loren D.M. Pena,John A. Phillips,Jennifer E. Posey,John H. Postlethwait,Lorraine Potocki,Barbara N. Pusey,Chloe M. Reuter,Amy K. Robertson,Lance H. Rodan,Jacinda B. Sampson,Susan L. Samson,Kelly Schoch,Molly C. Schroeder,Daryl A. Scott,Prashant Sharma,Rebecca Signer,Edwin K. Silverman,Janet S. Sinsheimer,Kevin S. Smith,Kimberly Splinter,Joan M. Stoler,Jennifer A. Sullivan,David A. Sweetser,Cynthia J. Tifft,Camilo Toro,Alyssa A. Tran,Tiina K. Urv,Zaheer M. Valivullah,Eric Vilain,Tiphanie P. Vogel,Colleen E. Wahl,Nicole M. Walley,Christopher A. Walsh,Patricia A. Ward,Katrina M. Waters,Monte Westerfield,Anastasia L. Wise,Lynne A. Wolfe,Elizabeth A. Worthey,Shinya Yamamoto,Guoyun Yu,Diane B. Zastrow,Allison Zheng,Allison Zheng,Michael F. Wangler,Michael F. Wangler,Ghayda M. Mirzaa,Ghayda M. Mirzaa,B. Lee,Stanley F. Nelson,Hugo J. Bellen +207 more
TL;DR: The results show that IRF2BPL and pits are required in the nervous system in humans and flies, and their loss leads to a range of neurological phenotypes in both species.
Journal ArticleDOI
Clinical and mutation-type analysis from an international series of 198 probands with a pathogenic FBN1 exons 24-32 mutation.
Laurence Faivre,Gwenaëlle Collod-Béroud,Bert Callewaert,Anne H. Child,Christine Binquet,Elodie Gautier,Bart Loeys,Bart Loeys,Eloisa Arbustini,Karin Mayer,Mine Arslan-Kirchner,Chantal Stheneur,A Kiotsekoglou,P Comeglio,Nicola Marziliano,Jean-Eric Wolf,O Bouchot,P Khau-Van-Kien,Christophe Béroud,Mireille Claustres,Claire Bonithon-Kopp,Peter N. Robinson,Lesley C. Adès,Lesley C. Adès,J. De Backer,Paul Coucke,Uta Francke,A. De Paepe,Guillaume Jondeau,Catherine Boileau +29 more
TL;DR: Even if the exons 24–32 location appears as a major cause of the severity of the phenotype in patients with a mutation in this region, other factors such as the type of mutation or modifier genes might also be relevant.
Journal ArticleDOI
Low serum vitamin K in PXE results in defective carboxylation of mineralization inhibitors similar to the GGCX mutations in the PXE-like syndrome
Olivier Vanakker,Ludovic Martin,Leon J. Schurgers,Daniela Quaglino,Laura Costrop,Cees Vermeer,I. Pasquali-Ronchetti,Paul Coucke,Anne De Paepe +8 more
TL;DR: Although in PXE-like patients this is due to mutations in the GGCX gene, a deficiency of the carboxylation co-factor VK is at the basis of the decreased activity of calcification inhibitors in PxE.
Journal ArticleDOI
Comprehensive Clinical and Molecular Analysis of 12 Families with Type 1 Recessive Cutis Laxa
Bert Callewaert,Chi-Ting Su,Tim Van Damme,Philip Vlummens,Fransiska Malfait,Olivier Vanakker,Bianca Schulz,Meghan K. Mac Neal,Elaine C. Davis,Joseph G. H. Lee,Aicha Salhi,Sheila Unger,Ketil Heimdal,Salome De Almeida,Uwe Kornak,Harald Gaspar,Jean-Luc Bresson,Katrina Prescott,Maria E. Gosendi,Sahar Mansour,Gérald Pierard,Suneeta Madan-Khetarpal,Frank C. Sciurba,Sofie Symoens,Paul Coucke,Lionel Van Maldergem,Zsolt Urban,Anne De Paepe +27 more
TL;DR: It is concluded that LTBP4 mutations cause disease through both loss of function and gain of function mechanisms, in the absence of vascular tortuosity or aneurysms.