Caroline Sewry

Caroline Sewry publication distribution in Molecular Biology in 2026

The chart shows the distribution of publications by all Research.com ranked scientists in the field of Molecular Biology in 2026. The highlighted bar marks where Caroline Sewry sits on this spectrum.

Caroline Sewry D-index placement in Molecular Biology in 2026

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

Best Publications

• Exon skipping and dystrophin restoration in patients with Duchenne muscular dystrophy after systemic phosphorodiamidate morpholino oligomer treatment: an open-label, phase 2, dose-escalation study.

  Sebahattin Cirak;Virginia Arechavala-Gomeza;Michela Guglieri;Lucy Feng

  1228
  Citations

• Local restoration of dystrophin expression with the morpholino oligomer AVI-4658 in Duchenne muscular dystrophy: a single-blind, placebo-controlled, dose-escalation, proof-of-concept study

  Maria Kinali;Maria Kinali;Virginia Arechavala-Gomeza;Lucy Feng;Sebahattin Cirak

  952
  Citations

• The Emery-Dreifuss Muscular Dystrophy Protein, Emerin, is a Nuclear Membrane Protein

  S. Manilal;Nguyen thi Man;C. A. Sewry;G. E. Morris

  507
  Citations

• Recessive mutations in EPG5 cause Vici syndrome, a multisystem disorder with defective autophagy

  Thomas Cullup;Ay Lin Kho;Carlo Dionisi-Vici;Birgit Brandmeier

  273
  Citations

• Mutations in KLHL40 Are a Frequent Cause of Severe Autosomal-Recessive Nemaline Myopathy

  Gianina Ravenscroft;Satoko Miyatake;Vilma Lotta Lehtokari;Emily J. Todd

  218
  Citations

• Autosomal recessive inheritance of RYR1 mutations in a congenital myopathy with cores.

  H. Jungbluth;C.R. Muller;B. Halliger-Keller;M. Brockington

  217
  Citations

• Deficiency of the human mitochondrial transcription factor h-mtTFA in infantile mitochondrial myopathy is associated with mtDNA depletion

  J. Poulton;K. Morten;C. Freeman-Emmerson;C. Potter

  198
  Citations

• Mutations in B3GALNT2 Cause Congenital Muscular Dystrophy and Hypoglycosylation of α-Dystroglycan

  Elizabeth Stevens;Keren J. Carss;Sebahattin Cirak;A. Reghan Foley

  193
  Citations

• The spectrum of pathology in central core disease.

  C.A. Sewry;C. Muller;M. Davis;J.S.M. Dwyer

  189
  Citations

• Dystrophin quantification and clinical correlations in Becker muscular dystrophy: implications for clinical trials

  Karen Anthony;Sebahattin Cirak;Silvia Torelli;Giorgio Tasca

  170
  Citations

• Exon skipping and translation in patients with frameshift deletions in the dystrophin gene.

  Unknown

  169
  Citations

• Disease severity in dominant Emery Dreifuss is increased by mutations in both emerin and desmin proteins

  F. Muntoni;G. Bonne;L. G. Goldfarb;E. Mercuri

  166
  Citations

• Clinical and Genetic Findings in a Large Cohort of Patients with Ryanodine Receptor 1 Gene-Associated Myopathies

  Andrea Klein;Suzanne Lillis;Iulia Munteanu;Mariacristina Scoto

  164
  Citations

• Mutational diversity and hot spots in the alpha-sarcoglycan gene in autosomal recessive muscular dystrophy (LGMD2D).

  A. Carrie;F. Piccolo;F. Leturcq;C. De Toma

  163
  Citations

• Minicore myopathy with ophthalmoplegia caused by mutations in the ryanodine receptor type 1 gene

  H. Jungbluth;H. Zhou;L. Hartley;B. Halliger-Keller

  152
  Citations

• Restoration of the Dystrophin-associated Glycoprotein Complex After Exon Skipping Therapy in Duchenne Muscular Dystrophy

  Sebahattin Cirak;Lucy Feng;Karen Anthony;Virginia Arechavala-Gomeza

  147
  Citations

• Principal mutation hotspot for central core disease and related myopathies in the C-terminal transmembrane region of the RYR1 gene

  M.R. Davis;E. Haan;H. Jungbluth;C. Sewry

  145
  Citations

• Loss-of-function mutations in SCN4A cause severe foetal hypokinesia or ‘classical’ congenital myopathy

  Irina T. Zaharieva;Michael G. Thor;Emily C. Oates;Emily C. Oates;Clara Van Karnebeek

  122
  Citations

• Novel mutations expand the clinical spectrum of DYNC1H1-associated spinal muscular atrophy

  Mariacristina Scoto;Alexander M Rossor;Matthew B Harms;Sebahattin Cirak

  120
  Citations

• Next generation sequencing in a large cohort of patients presenting with neuromuscular disease before or at birth

  Emily J. Todd;Kyle S. Yau;Royston Ong;Jennie Slee

  120
  Citations