Jozef Gecz

  • 13033 Citations
  • 62 h-Index
1988 …2019
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Research Output 1988 2019

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Letter
2018
4 Citations (Scopus)
5 Citations (Scopus)

Cerebral palsy and genomics: an international consortium

MacLennan, A. H., Kruer, M. C., Baynam, G., Moreno-De-Luca, A., Wilson, Y. A., Zhu, C., Wintle, R. F., Gecz, J. & On behalf of the members of the International Cerebral Palsy Genomics Consortium, 1 Feb 2018, In : Developmental Medicine and Child Neurology. 60, 2, p. 209-210 2 p.

Research output: Contribution to journalLetter

30 Citations (Scopus)

Common genetic variants contribute to risk of rare severe neurodevelopmental disorders

Niemi, M. E. K., Martin, H. C., Rice, D. L., Gallone, G., Gordon, S., Kelemen, M., McAloney, K., McRae, J., Radford, E. J., Yu, S., Gecz, J., Martin, N. G., Wright, C. F., Fitzpatrick, D. R., Firth, H. V., Hurles, M. E. & Barrett, J. C., 11 Oct 2018, In : Nature. 562, 7726, p. 268-271 4 p.

Research output: Contribution to journalLetter

2016

Reply

Maclennan, A. H., Thompson, S. C. & Gecz, J., 1 May 2016, In : American journal of obstetrics and gynecology. 214, 5, 1 p.

Research output: Contribution to journalLetter

2014

Phenotype-genotype complexities: Opening DOORS

Berkovic, S. F. & Gecz, J., 1 Jan 2014, In : The Lancet Neurology. 13, 1, p. 24-25 2 p.

Research output: Contribution to journalLetter

2012
25 Citations (Scopus)

CCDC22: A novel candidate gene for syndromic X-linked intellectual disability

Voineagu, I., Huang, L., Winden, K., Lazaro, M., Haan, E., Nelson, J., McGaughran, J., Nguyen, L. S., Friend, K., Hackett, A., Field, M., Gecz, J. & Geschwind, D., 1 Jan 2012, In : Molecular Psychiatry. 17, 1, p. 4-7 4 p.

Research output: Contribution to journalLetter

2011
2 Citations (Scopus)

"Blinders, phenotype, and fashionable genetic analysis": Setting the record straight for epilepsy!

Mulley, J. C., Heron, S. E., Wallace, R. H., Gecz, J. & Dibbens, L. M., Sep 2011, In : Epilepsia. 52, 9, p. 1757-1758 2 p.

Research output: Contribution to journalLetter

2008
9 Citations (Scopus)

Restoring reproductive confidence in families with X-linked mental retardation by finding the causal mutation

Turner, G., Boyle, J., Partington, M. W., Kerr, B., Raymond, F. L. & Gécz, J., Feb 2008, In : Clinical Genetics. 73, 2, p. 188-190 3 p.

Research output: Contribution to journalLetter

56 Citations (Scopus)

Two novel JAK2 exon 12 mutations in JAK2V617F-negative polycythaemia vera patients

Butcher, C. M., Hahn, U., To, L. B., Gecz, J., Wilkins, E. J., Scott, H. S., Bardy, P. G. & D'Andrea, R. J., 1 Jan 2008, In : Leukemia. 22, 4, p. 870-873 4 p.

Research output: Contribution to journalLetter

2004
17 Citations (Scopus)

1024C>T (R342X) is a recurrent PHF6 mutation also found in the original Börjeson-Forssman-Lehmann syndrome family

Lower, K. M., Solders, G., Bondeson, M. L., Nelson, J., Brun, A., Crawford, J., Malm, G., Börjeson, M., Turner, G., Partington, M. & Gécz, J., 1 Oct 2004, In : European Journal of Human Genetics. 12, 10, p. 787-789 3 p.

Research output: Contribution to journalLetter

3 Citations (Scopus)

Identification of a SEDL gene mutation in an individual with leber hereditary optic neuropathy and spondyloepiphyseal dysplasia [1]

Shaw, M. A., Gécz, J., McDonough, B., Hodess, A. B. & Harter, D. H., 30 Aug 2004, In : American Journal of Medical Genetics. 129, 2, p. 206-207 2 p.

Research output: Contribution to journalLetter

2000
39 Citations (Scopus)

Identification of a mutation in the ZNP/ATR-X gene in a family reported as Smith-Fineman-Myers syndrome

Villard, L., Fontès, M., Adès, L. C. & Gecz, J., 13 Mar 2000, In : American Journal of Medical Genetics. 91, 1, p. 83-85 3 p.

Research output: Contribution to journalLetter

1999
127 Citations (Scopus)

A missense mutation in RPS6KA3 (RSK2) responsible for non-specific mental retardation [1]

Merienne, K., Jacquot, S., Pannetier, S., Zeniou, M., Bankier, A., Gecz, J., Mandel, J. L., Mulley, J., Sassone-Corsi, P. & Hanauer, A., 18 May 1999, In : Nature Genetics. 22, 1, p. 13-14 2 p.

Research output: Contribution to journalLetter