David Mowat

Overview

Best Publications

• Updated International Tuberous Sclerosis Complex Diagnostic Criteria and Surveillance and Management Recommendations.

  Hope Northrup;Mary E. Aronow;E. Martina Bebin;John Bissler

  652
  Citations

• Diversity and Function of Mutations in P450 Oxidoreductase in Patients with Antley-Bixler Syndrome and Disordered Steroidogenesis

  Ningwu Huang;Amit Vikram Pandey;Vishal Agrawal;William Reardon

  349
  Citations

• Disorders of sex development: insights from targeted gene sequencing of a large international patient cohort

  Stefanie Eggers;Simon Sadedin;Jocelyn A. van den Bergen;Gorjana Robevska

  338
  Citations

• Hirschsprung disease, microcephaly, mental retardation, and characteristic facial features: delineation of a new syndrome and identification of a locus at chromosome 2q22-q23.

  D. R. Mowat;G. D. H. Croaker;D. T. Cass;B. A. Kerr

  284
  Citations

• Loss-of-function mutations in SIP1 Smad interacting protein 1 result in a syndromic Hirschsprung disease

  Valère Cacheux;Florence Dastot-Le Moal;Helena Kääriäinen;Nadège Bondurand

  266
  Citations

• Mowat-Wilson syndrome

  D R Mowat;M J Wilson;M Goossens

  259
  Citations

• Submicroscopic duplications of the hydroxysteroid dehydrogenase HSD17B10 and the E3 ubiquitin ligase HUWE1 are associated with mental retardation

  Guido Froyen;Mark Corbett;Joke Vandewalle;Irma Jarvela;Irma Jarvela

  245
  Citations

• Dystrophin Gene Mutation Location and the Risk of Cognitive Impairment in Duchenne Muscular Dystrophy

  Peter J. Taylor;Grant A. Betts;Sarah Maroulis;Christian Gilissen

  223
  Citations

• Mutations in PIEZO2 Cause Gordon Syndrome, Marden-Walker Syndrome, and Distal Arthrogryposis Type 5

  Margaret J McMillin;Anita E Beck;Anita E Beck;Jessica X Chong;Kathryn M Shively

  206
  Citations

• Mutations in KCNH1 and ATP6V1B2 cause Zimmermann-Laband syndrome

  Fanny Kortüm;Viviana Caputo;Christiane K Bauer;Lorenzo Stella

  205
  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

• 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

• SOX10 mutations in chronic intestinal pseudo-obstruction suggest a complex physiopathological mechanism.

  Véronique Pingault;Mathilde Girard;Nadège Bondurand;Huw Dorkins

  173
  Citations

• ZFHX1B mutations in patients with Mowat-Wilson syndrome.

  Florence Dastot-Le Moal;Meredith Wilson;David Mowat;Nathalie Collot

  167
  Citations

• Mammalian target of rapamycin inhibitors for intractable epilepsy and subependymal giant cell astrocytomas in tuberous sclerosis complex.

  Michael Cardamone;Michael Cardamone;Danny Flanagan;Danny Flanagan;David Mowat;David Mowat;Sean E. Kennedy;Sean E. Kennedy

  152
  Citations

• Coffin-Siris syndrome is a SWI/SNF complex disorder.

  Y. Tsurusaki;N. Okamoto;H. Ohashi;S. Mizuno

  145
  Citations

• Update of PAX2 mutations in renal coloboma syndrome and establishment of a locus-specific database.

  Matthew Bower;Rémi Salomon;Judith Allanson;Corinne Antignac

  142
  Citations

• Mutation spectrum in the large GTPase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear myopathy.

  Johann Böhm;Valérie Biancalana;Elizabeth T. DeChene;Marc Bitoun

  138
  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

• Submicroscopic duplications of the hydroxysteroid dehydrogenase HSD17B10 and the E3 ubiquitin ligase HUWE1 are associated with mental retardation | NOVA. The University of Newcastle's Digital Repository

  Guy Froyen;Mark Corbett;Jamel Chelly;Damien Sanlaville

  0
  Citations