Paul Coucke

Paul Coucke publication distribution in Genetics in 2026

The chart shows the distribution of publications by all Research.com ranked scientists in the field of Genetics in 2026. The highlighted bar marks where Paul Coucke sits on this spectrum.

Paul Coucke D-index placement in Genetics in 2026

The chart shows the D-index (discipline H-index) distribution of Genetics scientists ranked by Research.com in 2026. The highlighted bar marks where Paul Coucke sits on this spectrum.

Overview

Best Publications

• A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2

  Bart L Loeys;Junji Chen;Enid R Neptune;Daniel P Judge

  1929
  Citations

• Aneurysm Syndromes Caused by Mutations in the TGF-β Receptor

  Bart L. Loeys;Bart L. Loeys;Ulrike Schwarze;Tammy Holm;Bert L. Callewaert

  1773
  Citations

• Consortium for osteogenesis imperfecta mutations in the helical domain of type I collagen: regions rich in lethal mutations align with collagen binding sites for integrins and proteoglycans

  Joan C. Marini;Antonella Forlino;Antonella Forlino;Wayne A. Cabral;Aileen M. Barnes

  885
  Citations

• Effect of mutation type and location on clinical outcome in 1,013 probands with marfan syndrome or related phenotypes and FBN1 mutations : An international study

  L. Faivre;G. Collod-Beroud;G. Collod-Beroud;B.L. Loeys;A. Child

  617
  Citations

• Loss-of-function mutations in LEMD3 result in osteopoikilosis, Buschke-Ollendorff syndrome and melorheostosis.

  Jan Hellemans;Olena Preobrazhenska;Andy Willaert;Philippe Debeer

  514
  Citations

• Mutations in the human |[alpha]|-tectorin gene cause autosomal dominant non-syndromic hearing impairment

  Kristien Verhoeven;Lut Van Laer;Karin Kirschhofer;P Kevin Legan

  469
  Citations

• Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin

  Edgar A. Otto;Bart Loeys;Hemant Khanna;Jan Hellemans

  464
  Citations

• Mutations in the facilitative glucose transporter GLUT10 alter angiogenesis and cause arterial tortuosity syndrome

  Paul J Coucke;Andy Willaert;Marja W Wessels;Bert Callewaert

  427
  Citations

• Homozygosity for a missense mutation in fibulin-5 (FBLN5) results in a severe form of cutis laxa

  Bart Loeys;Lionel Van Maldergem;Geert Mortier;Paul Coucke

  377
  Citations

• Mutations in Fibrillin-1 Cause Congenital Scleroderma: Stiff Skin Syndrome

  B. L. Loeys;B. L. Loeys;E. E. Gerber;D. Riegert-Johnson;S. Iqbal

  299
  Citations

• Comprehensive molecular screening of the FBN1 gene favors locus homogeneity of classical Marfan syndrome.

  B. Loeys;J. De Backer;P. Van Acker;K. Wettinck

  290
  Citations

• Positional Cloning of a Gene Involved in Hereditary Multiple Exostoses

  W. Wuyts;W. Van Hul;J. Wauters;M. Nemtsova

  279
  Citations

• Phenotypic spectrum of the SMAD3-related aneurysms–osteoarthritis syndrome

  Ingrid M B H van de Laar;Denise van der Linde;Edwin H G Oei;Pieter K Bos

  274
  Citations

• CRASH syndrome: clinical spectrum of corpus callosum hypoplasia, retardation, adducted thumbs, spastic paraparesis and hydrocephalus due to mutations in one single gene, L1.

  E. Fransen;V. Lemmon;G. Van Camp;L. Vits

  263
  Citations

• A COMMON FOUNDER FOR THE 35DELG GJB2 GENE MUTATION IN CONNEXIN 26 HEARING IMPAIRMENT

  L Van Laer;P Coucke;R F Mueller;G Caethoven

  258
  Citations

• Two Frequent Missense Mutations in Pendred Syndrome

  P. van Hauwe;L.A. Everett;P.J. Coucke;D.A. Scott

  244
  Citations

• Mutation Detection in the ABCC6 Gene and Genotype-Phenotype Analysis in a Large International Case Series Affected by Pseudoxanthoma Elasticum

  Ellen G Pfendner;Olivier M Vanakker;Sharon F Terry;Sophia Vourthis

  225
  Citations

• Mutations in the KCNQ4 gene are responsible for autosomal dominant deafness in four DFNA2 families.

  P.J. Coucke;P. van Hauwe;P.M. Kelley;H.P.M. Kunst

  223
  Citations

• Pseudoxanthoma Elasticum-Like Phenotype with Cutis Laxa and Multiple Coagulation Factor Deficiency Represents a Separate Genetic Entity

  Olivier M Vanakker;Ludovic Martin;Dealba Gheduzzi;Bart P Leroy

  215
  Citations

• Arterial tortuosity syndrome: Clinical and molecular findings in 12 newly identified families

  B L Callewaert;A Willaert;W S Kerstjens-Frederikse;W S Kerstjens-Frederikse;J De Backer

  214
  Citations