Tony Roscioli

Overview

Best Publications

• Mutations in ENPP1 are associated with 'idiopathic' infantile arterial calcification

  Frank Rutsch;Nico Ruf;Sucheta Vaingankar;Mohammad R Toliat

  647
  Citations

• Identity-by-descent filtering of exome sequence data identifies PIGV mutations in hyperphosphatasia mental retardation syndrome

  Peter M Krawitz;Peter M Krawitz;Michal R Schweiger;Michal R Schweiger;Christian Rödelsperger;Christian Rödelsperger;Carlo Marcelis

  371
  Citations

• De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome

  Jean-Baptiste Rivière;Bregje W. M. van Bon;Alexander Hoischen;Stanislav S. Kholmanskikh

  304
  Citations

• GRIN2B encephalopathy: Novel findings on phenotype, variant clustering, functional consequences and treatment aspects

  Konrad Platzer;Hongjie Yuan;Hannah Schütz;Alexander Winschel

  272
  Citations

• Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of α-dystroglycan.

  Tony Roscioli;Tony Roscioli;Erik-Jan Kamsteeg;Karen Buysse;Isabelle Maystadt

  227
  Citations

• Monogenic mutations differentially affect the quantity and quality of T follicular helper cells in patients with human primary immunodeficiencies

  Cindy S. Ma;Cindy S. Ma;Natalie Wong;Geetha Rao;Danielle T. Avery

  203
  Citations

• Whole-exome sequencing reanalysis at 12 months boosts diagnosis and is cost-effective when applied early in Mendelian disorders

  Lisa J Ewans;Lisa J Ewans;Deborah Schofield;Deborah Schofield;Deborah Schofield;Rupendra Shrestha;Ying Zhu

  202
  Citations

• Genome-wide profiling of p63 DNA-binding sites identifies an element that regulates gene expression during limb development in the 7q21 SHFM1 locus.

  Evelyn N. Kouwenhoven;Simon J. van Heeringen;Juan J. Tena;Martin Oti

  189
  Citations

• Feasibility of ultra-rapid exome sequencing in critically ill infants and children with suspected monogenic conditions in the Australian public health care system

  Sebastian Lunke;Stefanie Eggers;Meredith Wilson;Chirag Patel

  186
  Citations

• Mutations in PIGO, a member of the GPI-anchor-synthesis pathway, cause hyperphosphatasia with mental retardation.

  Peter M. Krawitz;Peter M. Krawitz;Yoshiko Murakami;Jochen Hecht;Jochen Hecht;Ulrike Krüger

  162
  Citations

• Missense mutations in β-1,3-N-acetylglucosaminyltransferase 1 (B3GNT1) cause Walker–Warburg syndrome

  Karen Buysse;Moniek Riemersma;Gareth Powell;Jeroen van Reeuwijk

  161
  Citations

• A genome-wide association study identifies susceptibility loci for nonsyndromic sagittal craniosynostosis near BMP2 and within BBS9

  Cristina M Justice;Garima Yagnik;Yoonhee Kim;Inga Peter

  134
  Citations

• Mutation Spectrum in RAB3GAP1, RAB3GAP2, and RAB18 and Genotype–Phenotype Correlations in Warburg Micro Syndrome and Martsolf Syndrome

  Mark T Handley;Deborah J Morris-Rosendahl;Stephen Brown;Fiona Macdonald

  132
  Citations

• SLC29A3 gene is mutated in pigmented hypertrichosis with insulin-dependent diabetes mellitus syndrome and interacts with the insulin signaling pathway

  Simon T. Cliffe;Jamie M. Kramer;Khalid Hussain;Joris H. Robben

  120
  Citations

• A Mild PUM1 Mutation Is Associated with Adult-Onset Ataxia, whereas Haploinsufficiency Causes Developmental Delay and Seizures

  Vincenzo A. Gennarino;Vincenzo A. Gennarino;Elizabeth E. Palmer;Elizabeth E. Palmer;Laura M. McDonell;Li Wang;Li Wang

  119
  Citations

• MLL2 mutation detection in 86 patients with Kabuki syndrome: a genotype-phenotype study.

  P. Makrythanasis;B. W. van Bon;M. Steehouwer;B. Rodriguez-Santiago

  118
  Citations

• A SLC39A8 variant causes manganese deficiency, and glycosylation and mitochondrial disorders.

  Lisa G. Riley;Lisa G. Riley;Mark J. Cowley;Velimir Gayevskiy;Tony Roscioli;Tony Roscioli;Tony Roscioli

  109
  Citations

• De novo mutations in PLXND1 and REV3L cause Möbius syndrome

  Laura Tomas-Roca;Laura Tomas-Roca;Anastasia Tsaalbi-Shtylik;Jacob G. Jansen;Manvendra K. Singh;Manvendra K. Singh

  107
  Citations

• Mutations in the Epithelial Cadherin-p120-Catenin Complex Cause Mendelian Non-Syndromic Cleft Lip with or without Cleft Palate

  Liza L. Cox;Liza L. Cox;Liza L. Cox;Timothy C. Cox;Timothy C. Cox;Timothy C. Cox;Lina M. Moreno Uribe;Ying Zhu

  105
  Citations

• Heterozygous mutations of FREM1 are associated with an increased risk of isolated metopic craniosynostosis in humans and mice.

  Lisenka E. L. M. Vissers;Timothy C. Cox;A. Murat Maga;Kieran M. Short

  99
  Citations