D-Index & Metrics Best Publications

D-Index & Metrics D-index (Discipline H-index) only includes papers and citation values for an examined discipline in contrast to General H-index which accounts for publications across all disciplines.

Discipline name D-index D-index (Discipline H-index) only includes papers and citation values for an examined discipline in contrast to General H-index which accounts for publications across all disciplines. Citations Publications World Ranking National Ranking
Genetics D-index 63 Citations 15,226 276 World Ranking 2079 National Ranking 29

Overview

What is he best known for?

The fields of study Paul Coucke is best known for:

  • Gene
  • Extracellular matrix
  • Mutation

Paul Coucke conducts interdisciplinary study in the fields of Genetics and Cancer research through his works. Paul Coucke performs integrative Cancer research and Genetics research in his work. He performs integrative study on Gene and Transforming growth factor beta. Paul Coucke merges Phenotype with Genetic heterogeneity in his research. Paul Coucke merges many fields, such as Genetic heterogeneity and Phenotype, in his writings. He connects Internal medicine with Pediatrics in his research. Paul Coucke connects Pediatrics with Internal medicine in his study. He carries out multidisciplinary research, doing studies in Missense mutation and Proband. While working on this project, he studies both Proband and Missense mutation.

His most cited work include:

  • A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2 (1483 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 (572 citations)
  • Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin (353 citations)

What are the main themes of his work throughout his whole career to date

His Mutation study is focused on Missense mutation and Proband. Paul Coucke connects Gene with Phenotype in his study. Paul Coucke performs integrative study on Genetics and Anatomy. In his papers, Paul Coucke integrates diverse fields, such as Anatomy and Genetics. His Internal medicine study frequently intersects with other fields, such as Marfan syndrome. Marfan syndrome and Internal medicine are commonly linked in his work. In his works, Paul Coucke undertakes multidisciplinary study on Audiology and Hearing loss. In his work, he performs multidisciplinary research in Hearing loss and Audiology. His work often combines Molecular biology and Mutation studies.

Paul Coucke most often published in these fields:

  • Gene (81.43%)
  • Genetics (80.00%)
  • Mutation (45.71%)

This overview was generated by a machine learning system which analysed the scientist’s body of work. If you have any feedback, you can contact us here.

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.
Nature Genetics (2005)

1776 Citations

Aneurysm Syndromes Caused by Mutations in the TGF-β Receptor

Bart L. Loeys;Bart L. Loeys;Ulrike Schwarze;Tammy Holm;Bert L. Callewaert.
The New England Journal of Medicine (2006)

1637 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.
Human Mutation (2007)

795 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.
American Journal of Human Genetics (2007)

533 Citations

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

Jan Hellemans;Olena Preobrazhenska;Andy Willaert;Philippe Debeer.
Nature Genetics (2004)

488 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.
Nature Genetics (2005)

419 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.
Nature Genetics (2006)

377 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.
Human Molecular Genetics (2002)

361 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.
Human Mutation (2004)

275 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.
Science Translational Medicine (2010)

274 Citations

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