Diana Baralle

Overview

Best Publications

• Recurrent Rearrangements of Chromosome 1q21.1 and Variable Pediatric Phenotypes

  Heather C Mefford;Andrew J Sharp;Carl Baker;Andy Itsara

  852
  Citations

• A centrosomal mechanism involving CDK5RAP2 and CENPJ controls brain size.

  Jacquelyn Bond;Emma Roberts;Kelly Springell;Sophia Lizarraga

  634
  Citations

• Splicing in action: assessing disease causing sequence changes

  D Baralle;M Baralle

  577
  Citations

• Evidence for 28 genetic disorders discovered by combining healthcare and research data

  J Kaplanis;K E Samocha;L Wiel;Z Zhang

  473
  Citations

• Revised diagnostic criteria for neurofibromatosis type 1 and Legius syndrome: an international consensus recommendation.

  E Legius;L Messiaen;P Wolkenstein;P Pancza

  468
  Citations

• An absence of cutaneous neurofibromas associated with a 3-bp inframe deletion in Exon 17 of the NF1 gene (c.2970-2972 delAAT): evidence of a clinically significant NF1 genotype-phenotype correlation

  M. Upadhyaya;S. M. Huson;M. Davies;N. Thomas

  440
  Citations

• Mutations in the DNA methyltransferase gene DNMT3A cause an overgrowth syndrome with intellectual disability.

  Katrina Tatton-Brown;Sheila Seal;Elise Ruark;Jenny Harmer

  354
  Citations

• Mutations in DDX3X are a common cause of unexplained intellectual disability with gender-specific effects on wnt signaling

  Lot Snijders Blok;Erik Madsen;Jane Juusola;Christian Gilissen

  331
  Citations

• Histone Lysine Methylases and Demethylases in the Landscape of Human Developmental Disorders

  Víctor Faundes;Víctor Faundes;William G. Newman;Laura Bernardini;Natalie Canham

  274
  Citations

• Mutations of VMD2 Splicing Regulators Cause Nanophthalmos and Autosomal Dominant Vitreoretinochoroidopathy (ADVIRC)

  Jill Yardley;Bart P Leroy;Niki Hart-Holden;Bart A Lafaut

  248
  Citations

• Prediction of single-nucleotide substitutions that result in exon skipping: identification of a splicing silencer in BRCA1 exon 6.

  Michela Raponi;Jana Kralovicova;Ellen Copson;Petr Divina

  139
  Citations

• A novel ACE2 isoform is expressed in human respiratory epithelia and is upregulated in response to interferons and RNA respiratory virus infection.

  Cornelia Blume;Cornelia Blume;Claire L. Jackson;Claire L. Jackson;Cosma Mirella Spalluto;Jelmer Legebeke

  132
  Citations

• Missed threads. The impact of pre-mRNA splicing defects on clinical practice.

  Diana Baralle;Anneke Lucassen;Emanuele Buratti

  128
  Citations

• Blood RNA analysis can increase clinical diagnostic rate and resolve variants of uncertain significance

  Htoo A Wai;Jenny Lord;Matthew Lyon;Adam Gunning

  124
  Citations

• Linkage analysis of idiopathic generalized epilepsy (IGE) and marker loci on chromosome 6p in families of patients with juvenile myoclonic epilepsy: no evidence for an epilepsy locus in the HLA region.

  W P Whitehouse;M Rees;D Curtis;A Sundqvist

  122
  Citations

• RNA splicing in human disease and in the clinic.

  Diana Baralle;Emanuele Buratti

  110
  Citations

• Comprehensive annotation of splice junctions supports pervasive alternative splicing at the BRCA1 locus: a report from the ENIGMA consortium

  Mara Colombo;Marinus J. Blok;Phillip Whiley;Phillip Whiley;Marta Santamarina

  107
  Citations

• King-Denborough syndrome with and without mutations in the skeletal muscle ryanodine receptor (RYR1) gene.

  James J. Dowling;Suzanne Lillis;Kimberley Amburgey;Haiyan Zhou

  106
  Citations

• Identification of a mutation that perturbs NF1 agene splicing using genomic DNA samples and a minigene assay

  M Baralle;D Baralle;L De Conti;C Mattocks

  105
  Citations

• hnRNP H binding at the 5′ splice site correlates with the pathological effect of two intronic mutations in the NF-1 and TSHβ genes

  Emanuele Buratti;Marco Baralle;Laura De Conti;Diana Baralle

  103
  Citations