Bruno Reversade


Ontology type: schema:Person     


Person Info

NAME

Bruno

SURNAME

Reversade

Publications in SciGraph latest 50 shown

  • 2018-12 Structural basis of RIP2 activation and signaling in NATURE COMMUNICATIONS
  • 2018-12 Cenani-Lenz syndactyly syndrome - a case report of a family with isolated syndactyly in BMC MEDICAL GENETICS
  • 2018-09 Author Correction: RSPO2 inhibition of RNF43 and ZNRF3 governs limb development independently of LGR4/5/6 in NATURE
  • 2018-05 RSPO2 inhibition of RNF43 and ZNRF3 governs limb development independently of LGR4/5/6 in NATURE
  • 2017-12 Katanin p80, NuMA and cytoplasmic dynein cooperate to control microtubule dynamics in SCIENTIFIC REPORTS
  • 2017-02 De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development in NATURE GENETICS
  • 2016-12 A novel ICK mutation causes ciliary disruption and lethal endocrine-cerebro-osteodysplasia syndrome in CILIA
  • 2016-01 Leveraging ancestry to improve causal variant identification in exome sequencing for monogenic disorders in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2015-01 Multiple Self-Healing Palmoplantar Carcinoma: A Familial Predisposition to Skin Cancer with Primary Palmoplantar and Conjunctival Lesions in JOURNAL OF INVESTIGATIVE DERMATOLOGY
  • 2014-03 C5orf42 is the major gene responsible for OFD syndrome type VI in HUMAN GENETICS
  • 2012-11 Haploinsufficiency for AAGAB causes clinically heterogeneous forms of punctate palmoplantar keratoderma in NATURE GENETICS
  • 2012-06 Mutations in IRX5 impair craniofacial development and germ cell migration via SDF1 in NATURE GENETICS
  • 2011-09 Consanguineous marriages, pearls and perils: Geneva International Consanguinity Workshop Report in GENETICS IN MEDICINE
  • 2011-02-27 Multiple self-healing squamous epithelioma is caused by a disease-specific spectrum of mutations in TGFBR1 in NATURE GENETICS
  • 2009-09 Mutations in PYCR1 cause cutis laxa with progeroid features in NATURE GENETICS
  • 2002-08 Connective-tissue growth factor (CTGF) modulates cell signalling by BMP and TGF-β in NATURE CELL BIOLOGY
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