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Sue Malcolm

Research Profile

Disorders

Physiology

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DNA Mutational Analysis

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Computational Biology

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Publications

TOP 3
C Abadie; D Baux; T Besnard; R Biboulet; C Blanchet; Mireille Claustres; Christian Hamel; L Larrieu; Sue Malcolm; Michel Mondain; P Ravel; Anne-Françoise Roux
Audiological findings in 100 USH2 patients.
Thomas Besnard; Catherine Blanchet; Patricia Blanchet; Patrick Calvas; Mireille Claustres; Albert David; Hélène Dollfus; Christian Hamel; Bertrand Isidor; Lise Larrieu; James Lespinasse; Geneviève Lina-Granade; Sue Malcolm; Gilles Morin; Sylvie Odent; Caroline Abadie; David Baux; Sylvie Tuffery-Giraud; Christel Vaché; Anne-Françoise Roux
Non-USH2A mutations in USH2 patients.
Anne-Françoise Roux; Christel Vaché; Umberto Ambrosetti; David Baux; Thomas Besnard; Catherine Blanchet; Dominique Bonneau; Albert David; P Edery; Valérie Faugère; Brigitte Gilbert-Dussardier; Christian Hamel; Muriel Holder-Espinasse; Hubert Journel; Didier Lacombe; Susana Léonard; Geneviève Lina-Granade; Sue Malcolm; Michel Mondain; Mireille Claustres
Four-year follow-up of diagnostic service in USH1 patients.

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All Publications

2012: C Abadie; D Baux; T Besnard; R Biboulet; C Blanchet; Mireille Claustres; Christian Hamel; L Larrieu; Sue Malcolm; Michel Mondain; P Ravel; Anne-Françoise Roux
Audiological findings in 100 USH2 patients.
Clinical genetics 2012;82(5):433-8.
2012: Thomas Besnard; Catherine Blanchet; Patricia Blanchet; Patrick Calvas; Mireille Claustres; Albert David; Hélène Dollfus; Christian Hamel; Bertrand Isidor; Lise Larrieu; James Lespinasse; Geneviève Lina-Granade; Sue Malcolm; Gilles Morin; Sylvie Odent; Caroline Abadie; David Baux; Sylvie Tuffery-Giraud; Christel Vaché; Anne-Françoise Roux
Non-USH2A mutations in USH2 patients.
Human mutation 2012;33(3):504-10.
2011: Anne-Françoise Roux; Christel Vaché; Umberto Ambrosetti; David Baux; Thomas Besnard; Catherine Blanchet; Dominique Bonneau; Albert David; P Edery; Valérie Faugère; Brigitte Gilbert-Dussardier; Christian Hamel; Muriel Holder-Espinasse; Hubert Journel; Didier Lacombe; Susana Léonard; Geneviève Lina-Granade; Sue Malcolm; Michel Mondain; Mireille Claustres
Four-year follow-up of diagnostic service in USH1 patients.
Investigative ophthalmology & visual science 2011;52(7):4063-71.
2010: Christel Vaché; Thomas Besnard; Catherine Blanchet; David Baux; Lise Larrieu; Valérie Faugère; Michel Mondain; Christian Hamel; Sue Malcolm; Mireille Claustres; Anne-Françoise Roux
Nasal epithelial cells are a reliable source to study splicing variants in Usher syndrome.
Human mutation 2010;31(6):734-41.
2008: David Baux; Valérie Faugère; Lise Larrieu; Sandie Le Guédard-Méreuze; dalil hamroun; Christophe Béroud; Sue Malcolm; Mireille Claustres; Anne-Françoise Roux
UMD-USHbases: a comprehensive set of databases to record and analyse pathogenic mutations and unclassified variants in seven Usher syndrome causing genes.
Human mutation 2008;29(8):E76-87.
2007: David Baux; Lise Larrieu; Catherine Blanchet; Christian Hamel; Safouane Ben Salah; Anne Vielle; Brigitte Gilbert-Dussardier; Muriel Holder; Patrick Calvas; Nicole Philip; P Edery; Dominique Bonneau; Mireille Claustres; Sue Malcolm; Anne-Françoise Roux
Molecular and in silico analyses of the full-length isoform of usherin identify new pathogenic alleles in Usher type II patients.
Human mutation 2007;28(8):781-9.
2007: Sandie Le Guédard; Valérie Faugère; Sue Malcolm; Mireille Claustres; Anne-Françoise Roux
Large genomic rearrangements within the PCDH15 gene are a significant cause of USH1F syndrome.
Molecular vision 2007;13():102-7.
2006: Anne-Françoise Roux; Valérie Faugère; S Le Guédard; Nathalie Pallares-Ruiz; Anne Vielle; Sylvie Chambert; S Marlin; Christian Hamel; B Gilbert; Sue Malcolm; Mireille Claustres
Survey of the frequency of USH1 gene mutations in a cohort of Usher patients shows the importance of cadherin 23 and protocadherin 15 genes and establishes a detection rate of above 90%.
Journal of medical genetics 2006;43(9):763-8.
2005: Sylvie Tuffery-Giraud; Céline Saquet; Delphine Thorel; Antoine Disset; François Rivier; Sue Malcolm; Mireille Claustres
Mutation spectrum leading to an attenuated phenotype in dystrophinopathies.
European journal of human genetics : EJHG 2005;13(12):1254-60.
2004: Sylvie Tuffery-Giraud; Céline Saquet; Sylvie Chambert; Bernard Echenne; Jean Marie Cuisset; François Rivier; Mireille Cossée; Christophe Philippe; Nicole Monnier; Eric Bieth; Dominique Recan; Marie Antoinette Voelckel; Serge Perelman; Jean-Claude Lambert; Sue Malcolm; Mireille Claustres
The role of muscle biopsy in analysis of the dystrophin gene in Duchenne muscular dystrophy: experience of a national referral centre.
Neuromuscular disorders : NMD 2004;14(10):650-8.