Francis L. Munier

Overview

Best Publications

• Leber congenital amaurosis: comprehensive survey of the genetic heterogeneity, refinement of the clinical definition, and genotype-phenotype correlations as a strategy for molecular diagnosis.

  Sylvain Hanein;Isabelle Perrault;Sylvie Gerber;Gaëlle Tanguy

  465
  Citations

• Missense mutations in COL8A2, the gene encoding the α2 chain of type VIII collagen, cause two forms of corneal endothelial dystrophy

  Susmito Biswas;Francis L. Munier;Jill Yardley;Niki Hart-Holden

  424
  Citations

• Intravitreal chemotherapy for vitreous disease in retinoblastoma revisited: from prohibition to conditional indications

  Francis L Munier;Marie-Claire Gaillard;Aubin Balmer;Sameh Soliman

  398
  Citations

• The IC3D classification of the corneal dystrophies

  Jayne S. Weiss;H. U. Møller;Walter Lisch;Shigeru Kinoshita

  394
  Citations

• The γ-Crystallins and Human Cataracts: A Puzzle Made Clearer

  Elise Héon;Megan Priston;Daniel F. Schorderet;Gail D. Billingsley

  350
  Citations

• Domain disruption and mutation of the bZIP transcription factor, MAF, associated with cataract, ocular anterior segment dysgenesis and coloboma

  Robyn V. Jamieson;Rahat Perveen;Bronwyn Kerr;Martin Carette

  298
  Citations

• Bietti crystalline corneoretinal dystrophy is caused by mutations in the novel gene CYP4V2.

  Anren Li;Xiaodong Jiao;Francis L. Munier;Daniel F. Schorderet

  279
  Citations

• TRPM1 Is Mutated in Patients with Autosomal-Recessive Complete Congenital Stationary Night Blindness

  Isabelle Audo;Susanne Kohl;Bart P. Leroy;Francis L. Munier

  270
  Citations

• CNGB3 mutations account for 50% of all cases with autosomal recessive achromatopsia

  Susanne Kohl;Balazs Varsanyi;Balazs Varsanyi;Gesine Abadin Antunes;Britta Baumann

  268
  Citations

• Mutations in CABP4, the gene encoding the Ca2+-binding protein 4, cause autosomal recessive night blindness.

  Christina Zeitz;Barbara Kloeckener-Gruissem;Ursula Forster;Susanne Kohl

  232
  Citations

• Aberrant accumulation of EFEMP1 underlies drusen formation in Malattia Leventinese and age-related macular degeneration.

  Lihua Y. Marmorstein;Francis L. Munier;Yvan Arsenijevic;Daniel F. Schorderet

  228
  Citations

• Profiling safety of intravitreal injections for retinoblastoma using an anti-reflux procedure and sterilisation of the needle track

  Francis L Munier;Sameh Soliman;Alexandre P Moulin;Marie-Claire Gaillard

  215
  Citations

• Tissue inhibitor of metalloproteinases-3 (TIMP-3) is a binding partner of epithelial growth factor-containing fibulin-like extracellular matrix protein 1 (EFEMP1). Implications for macular degenerations.

  Philip A. Klenotic;Francis L. Munier;Lihua Y. Marmorstein;Bela Anand-Apte

  213
  Citations

• The transcription factor c-Maf controls touch receptor development and function

  Hagen Wende;Stefan G. Lechner;Cyril Cheret;Steeve Bourane

  190
  Citations

• Diagnosis and current management of retinoblastoma

  A. Balmer;L. Zografos;F. Munier

  181
  Citations

• Amyloid and non-amyloid forms of 5q31-linked corneal dystrophy resulting from kerato-epithelin mutations at Arg-124 are associated with abnormal turnover of the protein.

  Elena Korvatska;Hugues Henry;Yukihiko Mashima;Masakazu Yamada

  173
  Citations

• Occurrence of sectoral choroidal occlusive vasculopathy and retinal arteriolar embolization after superselective ophthalmic artery chemotherapy for advanced intraocular retinoblastoma.

  Francis L Munier;Maja Beck-Popovic;Aubin Balmer;Marie-Claire Gaillard

  167
  Citations

• Chemotherapy for retinoblastoma.

  Helen S.L. Chan;Brenda L. Gallie;Francis L. Munier;Maja Beck Popovic

  165
  Citations

• Mutations of the gene encoding the transmembrane transporter protein ABC-C6 cause pseudoxanthoma elasticum

  Berthold Struk;Li Cai;Stéphanie Zäch;Wan Ji

  162
  Citations

• Mutations in PIP5K3 Are Associated with François-Neetens Mouchetée Fleck Corneal Dystrophy

  Shouling Li;Leila Tiab;Xiaodong Jiao;Francis L. Munier

  156
  Citations