Jozef Gecz

Research.com Recognitions

• 2017 - Fellow of the Australian Academy of Science
• 2015 - Fellow of the Australian Academy of Health and Medical Science

Overview

Best Publications

• Refining analyses of copy number variation identifies specific genes associated with developmental delay

  Bradley P. Coe;Kali Witherspoon;Jill A. Rosenfeld;Bregje W M Van Bon;Bregje W M Van Bon

  719
  Citations

• Duplication of the MECP2 region is a frequent cause of severe mental retardation and progressive neurological symptoms in males.

  Hilde Van Esch;Marijke Bauters;Jaakko Ignatius;Mieke Jansen

  696
  Citations

• A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation.

  Patrick S Tarpey;Raffaella Smith;Erin Pleasance;Annabel Whibley

  678
  Citations

• A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay

  Santhosh Girirajan;Jill A. Rosenfeld;Gregory M. Cooper;Francesca Antonacci

  655
  Citations

• Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases

  Holly A.F. Stessman;Bo Xiong;Bo Xiong;Bradley P. Coe;Tianyun Wang

  591
  Citations

• Mutations of CDKL5 Cause a Severe Neurodevelopmental Disorder with Infantile Spasms and Mental Retardation

  Linda S. Weaving;John Christodoulou;John Christodoulou;Sarah L. Williamson;Sarah L. Williamson;Kathie L. Friend

  556
  Citations

• Cerebral Palsy: Causes, Pathways, and the Role of Genetic Variants

  A.H. MacLennan;S.C. Thompson;J. Gecz

  505
  Citations

• Mutations in the human ortholog of Aristaless cause X-linked mental retardation and epilepsy

  Petter Strømme;Marie E. Mangelsdorf;Marie E. Mangelsdorf;Marie A. Shaw;Karen M. Lower;Karen M. Lower

  503
  Citations

• X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment.

  Leanne M. Dibbens;Leanne M. Dibbens;Patrick S. Tarpey;Kim Hynes;Kim Hynes;Marta A. Bayly

  467
  Citations

• Mutations in the JARID1C gene, which is involved in transcriptional regulation and chromatin remodeling, cause X-linked mental retardation.

  Lars Riff Jensen;Marion Amende;Ulf Gurok;Bettina Moser

  422
  Citations

• Mutations in DEPDC5 cause familial focal epilepsy with variable foci

  Leanne M Dibbens;Boukje de Vries;Simona Donatello;Sarah E Heron

  401
  Citations

• Mutations in the X-Linked Cyclin-Dependent Kinase–Like 5 (CDKL5/STK9) Gene Are Associated with Severe Neurodevelopmental Retardation

  Jiong Tao;Hilde Van Esch;M. Hagedorn-Greiwe;Kirsten Hoffmann

  365
  Citations

• Disruption of the serine/threonine kinase 9 gene causes severe X-linked infantile spasms and mental retardation

  Vera M. Kalscheuer;Jiong Tao;Andrew Donnelly;Georgina Hollway

  362
  Citations

• Identification of a MicroRNA that Activates Gene Expression by Repressing Nonsense-Mediated RNA Decay

  Ivone G. Bruno;Rachid Karam;Rachid Karam;Lulu Huang;Lulu Huang;Lulu Huang;Anjana Bhardwaj

  361
  Citations

• PHF6 mutations in T-cell acute lymphoblastic leukemia

  Pieter van Vlierberghe;Pieter van Vlierberghe;Pieter van Vlierberghe;Teresa Palomero;Hossein Khiabanian;Joni van der Meulen

  355
  Citations

• Identification of the gene FMR2, associated with FRAXE mental retardation.

  Jozef Gecz;Agi K. Gedeon;Agi K. Gedeon;Grant R. Sutherland;Grant R. Sutherland;John C. Mulley;John C. Mulley

  343
  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

• PRRT2 mutations cause benign familial infantile epilepsy and infantile convulsions with choreoathetosis syndrome.

  Sarah E. Heron;Bronwyn E. Grinton;Sara Kivity;Zaid Afawi

  321
  Citations

• Mutations in UPF3B , a member of the nonsense-mediated mRNA decay complex, cause syndromic and nonsyndromic mental retardation

  Patrick S. Tarpey;F. Lucy Raymond;Lam S. Nguyen;Jayson Rodriguez

  306
  Citations

• Common genetic variants contribute to risk of rare severe neurodevelopmental disorders

  Mari E. K. Niemi;Hilary C. Martin;Daniel L. Rice;Giuseppe Gallone

  298
  Citations