Faidon-Nikolaos Tilemis

Affiliations

Laboratory of Medical Genetics, School of Medicine, National & Kapodistrian University of Athens, "St. Sophia's" Children's Hospital, Athens, Greece.
Research University Institute for the Study of Genetic and Malignant Disease of Childhood, "St. Sophia's" Children's Hospital, Athens, Greece.

Publications (8)

A novel pathogenic ATP6V1B2 variant: Widening the genotypic spectrum of the epileptic neurodevelopmental phenotype.

American journal of medical genetics. Part A

Avec: Danai Veltra , Konstantina Kosma , Antigoni Papavasiliou , Faidon-Nikolaos Tilemis , Joanne Traeger-Synodinos , Christalena Sofocleous

Phenotype-driven variant filtration strategy in exome sequencing toward a high diagnostic yield and identification of 85 novel variants in 400 patients with rare Mendelian disorders.

American journal of medical genetics. Part A

Avec: Nikolaos M Marinakis , Maria Svingou , Danai Veltra , Kyriaki Kekou , Christalena Sofocleous , Faidon-Nikolaos Tilemis , Konstantina Kosma , Eirini Tsoutsou , Helen Fryssira , Joanne Traeger-Synodinos

Identification of a Novel

Molecular syndromology

Avec: Faidon-Nikolaos Tilemis , Nikolaos M Marinakis , Konstantina Kosma , Florentia Fostira , Joanne Traeger-Synodinos

Alport Syndrome: Clinical Utility of Early Genetic Diagnosis in Children.

Genes

Avec: Vasileia Christodoulaki , Konstantina Kosma , Nikolaos M Marinakis , Faidon-Nikolaos Tilemis , Nikolaos Stergiou , Afroditi Kampouraki , Charalampos Kapogiannis , Vasiliki Karava , Andromachi Mitsioni , Maria Mila , Christina Kanaka-Gantenbein , Periklis Makrythanasis , Maria Tzetis , Joanne Traeger-Synodinos

Nablus mask-like facial syndrome: Report of an atypical case with 8q21.3-q22.1 deletion.

American journal of medical genetics. Part A

Avec: A Mitrakos , K Kekou , F-N Tilemis , M Svingou , G Papadimas , C Sofocleous , J Traeger-Synodinos , M Tzetis

Combined exome analysis and exome depth assessment achieve a high diagnostic yield in an epilepsy case series, revealing significant genomic heterogeneity and novel mechanisms.

Expert review of molecular diagnostics

Avec: Danai Veltra , Faidon-Nikolaos Tilemis , Nikolaos M Marinakis , Maria Svingou , Anastasios Mitrakos , Konstantina Kosma , Irene Tsoutsou , Periklis Makrythanasis , Virginia Theodorou , Marina Katsalouli , Pelagia Vorgia , Georgios Niotakis , Georgios Vartzelis , Argirios Dinopoulos , Athanasios Evangeliou , Stella Mouskou , Anastasia Korona , Sotiria Mastroyianni , Antigone Papavasiliou , Maria Tzetis , Roser Pons , Joanne Traeger-Synodinos , Christalena Sofocleous

Hepatomegaly and fatty liver disease secondary to central hypothyroidism in combination with macrosomia as initial presentation of IGSF1 deficiency syndrome.

Hormones (Athens, Greece)

Avec: Michaela Nikolaou , Ioannis-Anargyros Vasilakis , Nikolaos M Marinakis , Faidon-Nikolaos Tilemis , Aglaia Zellos , Evangelia Lykopoulou , Joanne Traeger-Synodinos , Christina Kanaka-Gantenbein

Germline CNV Detection through Whole-Exome Sequencing (WES) Data Analysis Enhances Resolution of Rare Genetic Diseases.

Genes

Avec: Faidon-Nikolaos Tilemis , Nikolaos M Marinakis , Danai Veltra , Maria Svingou , Kyriaki Kekou , Anastasios Mitrakos , Maria Tzetis , Konstantina Kosma , Periklis Makrythanasis , Joanne Traeger-Synodinos , Christalena Sofocleous

Réseau de co-auteurs

Joanne Traeger-Synodinos 7 collaborations

Konstantina Kosma 6 collaborations

Nikolaos M Marinakis 6 collaborations

Danai Veltra 4 collaborations

Christalena Sofocleous 4 collaborations

Maria Svingou 3 collaborations

Periklis Makrythanasis 3 collaborations

Maria Tzetis 3 collaborations

Kyriaki Kekou 2 collaborations

Christina Kanaka-Gantenbein 2 collaborations

Anastasios Mitrakos 2 collaborations

Antigoni Papavasiliou 1 collaboration

Eirini Tsoutsou 1 collaboration

Helen Fryssira 1 collaboration

Florentia Fostira 1 collaboration

Vasileia Christodoulaki 1 collaboration

Nikolaos Stergiou 1 collaboration

Afroditi Kampouraki 1 collaboration

Charalampos Kapogiannis 1 collaboration

Vasiliki Karava 1 collaboration

Andromachi Mitsioni 1 collaboration

Maria Mila 1 collaboration

A Mitrakos 1 collaboration

K Kekou 1 collaboration

F-N Tilemis 1 collaboration

M Svingou 1 collaboration

G Papadimas 1 collaboration

C Sofocleous 1 collaboration

J Traeger-Synodinos 1 collaboration

M Tzetis 1 collaboration

Irene Tsoutsou 1 collaboration

Virginia Theodorou 1 collaboration

Marina Katsalouli 1 collaboration

Pelagia Vorgia 1 collaboration

Georgios Niotakis 1 collaboration

Georgios Vartzelis 1 collaboration

Argirios Dinopoulos 1 collaboration

Athanasios Evangeliou 1 collaboration

Stella Mouskou 1 collaboration

Anastasia Korona 1 collaboration

Sotiria Mastroyianni 1 collaboration

Antigone Papavasiliou 1 collaboration

Roser Pons 1 collaboration

Michaela Nikolaou 1 collaboration

Ioannis-Anargyros Vasilakis 1 collaboration

Aglaia Zellos 1 collaboration

Evangelia Lykopoulou 1 collaboration