Mauro Santibanez-Koref

Overview

Best Publications

• Early-onset lymphoproliferation and autoimmunity caused by germline STAT3 gain-of-function mutations

  Joshua D. Milner;Tiphanie P. Vogel;Lisa Forbes;Chi A. Ma

  599
  Citations

• Exome sequencing identifies GATA-2 mutation as the cause of dendritic cell, monocyte, B and NK lymphoid deficiency

  Rachel Emma Dickinson;Helen Griffin;Venetia Bigley;Louise N. Reynard

  491
  Citations

• Universal heteroplasmy of human mitochondrial DNA

  Brendan A.I. Payne;Ian J. Wilson;Patrick Yu-Wai-Man;Jonathan Coxhead

  417
  Citations

• Use of Whole-Exome Sequencing to Determine the Genetic Basis of Multiple Mitochondrial Respiratory Chain Complex Deficiencies

  Robert W. Taylor;Angela Pyle;Helen Griffin;Emma L. Blakely

  402
  Citations

• Germ-Line Mutations of TP53 in Li-Fraumeni Families: An Extended Study of 39 Families

  J. M. Varley;G. Mcgown;M. Thorncroft;M. F. Santibanez-Koref

  370
  Citations

• Contribution of Global Rare Copy-Number Variants to the Risk of Sporadic Congenital Heart Disease

  Rachel Soemedi;Ian J. Wilson;Jamie Bentham;Rebecca Darlay

  336
  Citations

• Mitochondrial aging is accelerated by anti-retroviral therapy through the clonal expansion of mtDNA mutations

  Brendan A I Payne;Brendan A I Payne;Ian J Wilson;Charlotte A Hateley;Rita Horvath

  257
  Citations

• O6‐alkylguanine‐DNA alkyltransferase: Role in carcinogenesis and chemotherapy

  Geoffrey P. Margison;Mauro F. Santibáñez-Koref

  255
  Citations

• Circular RNA enrichment in platelets is a signature of transcriptome degradation

  Abd A. Alhasan;Osagie G. Izuogu;Haya H. Al-Balool;Jannetta S. Steyn

  214
  Citations

• p53 germline mutations in Li-Fraumeni syndrome

  M.F. Santibáñez-Koref;J.M. Birch;A.L. Hartley;D. Crowther

  170
  Citations

• Whole Exome Sequencing Reveals the Major Genetic Contributors to Nonsyndromic Tetralogy of Fallot.

  Donna J Page;Matthieu J Miossec;Matthieu J Miossec;Simon G Williams;Richard M Monaghan

  159
  Citations

• Overexpression of aurora B kinase (AURKB) in primary non-small cell lung carcinoma is frequent, generally driven from one allele, and correlates with the level of genetic instability.

  S L Smith;N L Bowers;D C Betticher;O Gautschi

  155
  Citations

• Exome sequencing in undiagnosed inherited and sporadic ataxias

  Angela Pyle;Tania Smertenko;David Bargiela;Helen Griffin

  152
  Citations

• Flipping of alkylated DNA damage bridges base and nucleotide excision repair

  Julie L Tubbs;Vitaly F Latypov;Sreenivas Kanugula;Amna Butt

  145
  Citations

• A slipped-CAG DNA-binding small molecule induces trinucleotide-repeat contractions in vivo

  Masayuki Nakamori;Gagan B. Panigrahi;Stella Lanni;Terence Gall-Duncan

  142
  Citations

• EXOSC8 mutations alter mRNA metabolism and cause hypomyelination with spinal muscular atrophy and cerebellar hypoplasia

  Veronika Boczonadi;Juliane S. Müller;Angela Pyle;Jennifer Munkley

  139
  Citations

• Phenotype-specific effect of chromosome 1q21.1 rearrangements and GJA5 duplications in 2436 congenital heart disease patients and 6760 controls

  Rachel Soemedi;Ana Töpf;Ian J. Wilson;Rebecca Darlay

  138
  Citations

• Titin mutation segregates with hereditary myopathy with early respiratory failure

  Gerald Pfeffer;Hannah R. Elliott;Helen Griffin;Rita Barresi

  137
  Citations

• An immediate early human gene encodes an Id-like helix-loop-helix protein and is regulated by protein kinase C activation in diverse cell types.

  Richard W Deed;S M Bianchi;Graham T Atherton;D Johnston

  137
  Citations

• Defective i6A37 Modification of Mitochondrial and Cytosolic tRNAs Results from Pathogenic Mutations in TRIT1 and Its Substrate tRNA

  John W. Yarham;Tek N. Lamichhane;Angela Pyle;Sandy Mattijssen

  135
  Citations