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Philippos C. Patsalis

University of Nicosia(CY)

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137

Papers

3.8K

Citations

32

h-index

73

i10-index

Philippos C. Patsalis is an academic researcher from University of Nicosia. The author has contributed to research in topics: Genomic variations and chromosomal abnormalities & Prenatal Screening and Diagnostics & Genetics and Neurodevelopmental Disorders. The author has an h-index of 32, co-authored 117 publications.

ORCID: 0000-0003-0662-460X

Research Topics

Genomic variations and chromosomal abnormalities Prenatal Screening and Diagnostics Genetics and Neurodevelopmental Disorders Chromosomal and Genetic Variations Epigenetics and DNA Methylation

Papers by this author

works

Cryptic genomic imbalances in patients with de novo or familial apparently balanced translocations and abnormal phenotype

2008 · Molecular Cytogenetics · 124 citations

https://doi.org/10.1186/1755-8166-1-15

Carolina Sismani Sofia Kitsiou‐Tzeli Marios Ioannides Christodoulos Christodoulou

Towards a European consensus for reporting incidental findings during clinical NGS testing

2015 · European Journal of Human Genetics · 95 citations

https://doi.org/10.1038/ejhg.2015.111

Jayne Y. Hehir‐Kwa Mireille Claustres Ros Hastings Conny M.A. van Ravenswaaij‐Arts

9 Mb familial duplication in chromosome band Xp22.2–22.13 associated with mental retardation, hypotonia and developmental delay, scoliosis, cardiovascular problems and mild dysmorphic facial features

2011 · European Journal of Medical Genetics · 52 citations

https://doi.org/10.1016/j.ejmg.2011.05.006

Carolina Sismani Violetta Anastasiadou Ludmila Kousoulidou Sven Parkel

Clinical application of whole-genome array CGH during prenatal diagnosis: Study of 25 selected pregnancies with abnormal ultrasound findings or apparently balanced structural aberrations

2010 · Molecular Cytogenetics · 51 citations

https://doi.org/10.1186/1755-8166-3-24

Paola Evangelidou Carolina Sismani Marios Ioannides Christodoulos Christodoulou

Molecular screening of fragile X (FRAXA) and FRAXE mental retardation syndromes in the Hellenic population of Greece and Cyprus: Incidence, genetic variation, and stability

1999 · American Journal of Medical Genetics · 47 citations

https://doi.org/10.1002/(sici)1096-8628(19990528)84:3<184::aid-ajmg2>3.0.co;2-b

Philippos C. Patsalis Carolina Sismani Joe A. Hettinger I. Boumba

Frequencies of ?grey-zone? and premutation-sizeFMR1 CGG-repeat alleles in patients with developmental disability in Cyprus and Canada

1999 · American Journal of Medical Genetics · 22 citations

https://doi.org/10.1002/(sici)1096-8628(19990528)84:3<195::aid-ajmg4>3.0.co;2-1

Philippos C. Patsalis Carolina Sismani Joe A. Hettinger Jeanette J. A. Holden

Research topics

topics

Genomic variations and chromosomal abnormalities

Prenatal Screening and Diagnostics

Genetics and Neurodevelopmental Disorders

Chromosomal and Genetic Variations

Epigenetics and DNA Methylation

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