Nikolaos M Marinakis

ORCID

Publication Activity (10 Years)

Years Active: 2021-2024
Publications (10 Years): 26

Top Venues

European journal of human genetics : EJHG

Expert review of molecular diagnostics

Genes

Muscle & nerve

This page only lists publications with an associated author ORCID identifier.

Publications

Dana E Layo-Carris, Emily E Lubin, Annabel K Sangree, Kelly J Clark, Emily L Durham, Elizabeth M Gonzalez, Sarina Smith, Rajesh Angireddy, Xiao Min Wang, Erin Weiss, Annick Toutain, Roberto Mendoza-Londono, Lucie Dupuis, Nadirah Damseh, Danita Velasco, Maria Irene Valenzuela Palafoll, Marta Codina-Solà, Catherine Ziats, Jaclyn Have, Katie Clarkson, Dora Steel, Manju Kurian, Katy Barwick, Diana Carrasco, Aditi I Dagli, M J M Nowaczyk, Miroslava Hančárová, Šárka Bendová, Darina Prchalova, Zdenek Sedlacek, Alica Baxová, Catherine Bearce Nowak, Jessica Douglas, Wendy K Chung, Nicola Longo, Konrad Platzer, Chiara Klöckner, Luisa Averdunk, Dagmar Wieczorek, Ilona Krey, Christiane Zweier, André Reis, Tuğçe B Balcı, Marleen Simon, Hester Y Kroes, Antje Wiesener, Georgia Vasileiou, Nikolaos M Marinakis, Danai Veltra, Christalena Sofocleous, Konstantina Kosma, Joanne Traeger Synodinos, Konstantinos A Voudris, Marie-Laure Vuillaume, Paul Gueguen, Nicolas Derive, Estelle Colin, Clarisse Battault, Billie Au, Martin Delatycki, Mathew J Wallis, Lyndon Gallacher, Fatma Majdoub, Noor Smal, Sarah Weckhuysen, An-Sofie Schoonjans, R Frank Kooy, Marije Meuwissen, Benjamin T Cocanougher, Kathryn Taylor, Carolyn E Pizoli, Marie T McDonald, Philip James, Elizabeth R Roeder, Rebecca Littlejohn, Nicholas A Borja, Willa Thorson, Kristine King, Radka Stoeva, Manon Suerink, Esther A R Nibbeling, Stephanie Baskin, Gwenaël L E Guyader, Julie Kaplan, Candace Muss, Deanna Alexis Carere, Elizabeth Joyce Bhoj, Laura M Bryant
Correction: Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals. European journal of human genetics : EJHG (2024)
Dana E Layo-Carris, Emily E Lubin, Annabel K Sangree, Kelly J Clark, Emily L Durham, Elizabeth M Gonzalez, Sarina Smith, Rajesh Angireddy, Xiao Min Wang, Erin Weiss, Annick Toutain, Roberto Mendoza-Londono, Lucie Dupuis, Nadirah Damseh, Danita Velasco, Maria Irene Valenzuela Palafoll, Marta Codina-Solà, Catherine Ziats, Jaclyn Have, Katie Clarkson, Dora Steel, Manju Kurian, Katy Barwick, Diana Carrasco, Aditi I Dagli, M J M Nowaczyk, Miroslava Hančárová, Šárka Bendová, Darina Prchalova, Zdenek Sedlacek, Alica Baxová, Catherine Bearce Nowak, Jessica Douglas, Wendy K Chung, Nicola Longo, Konrad Platzer, Chiara Klöckner, Luisa Averdunk, Dagmar Wieczorek, Ilona Krey, Christiane Zweier, André Reis, Tuğçe B Balcı, Marleen Simon, Hester Y Kroes, Antje Wiesener, Georgia Vasileiou, Nikolaos M Marinakis, Danai Veltra, Christalena Sofocleous, Konstantina Kosma, Joanne Traeger Synodinos, Konstantinos A Voudris, Marie-Laure Vuillaume, Paul Gueguen, Nicolas Derive, Estelle Colin, Clarisse Battault, Billie Au, Martin Delatycki, Mathew J Wallis, Lyndon Gallacher, Fatma Majdoub, Noor Smal, Sarah Weckhuysen, An-Sofie Schoonjans, R Frank Kooy, Marije Meuwissen, Benjamin T Cocanougher, Kathryn Taylor, Carolyn E Pizoli, Marie T McDonald, Philip James, Elizabeth R Roeder, Rebecca Littlejohn, Nicholas A Borja, Willa Thorson, Kristine King, Radka Stoeva, Manon Suerink, Esther A R Nibbeling, Stephanie Baskin, Gwenaël L E Guyader, Julie Kaplan, Candace Muss, Deanna Alexis Carere, Elizabeth Joyce Bhoj, Laura M Bryant
Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals. European journal of human genetics : EJHG 32 (8) (2024)
Yasemin Bridges, Vinícius De Souza, Katherina G Cortes, Melissa A Haendel, Nomi L Harris, Daniel R Korn, Nikolaos M Marinakis, Nicolas A Matentzoglu, James Alastair McLaughlin, Christopher John Mungall, David Osumi-Sutherland, Peter Nick Robinson, Damian Smedley, Julius O B Jacobsen
Towards a standard benchmark for variant and gene prioritisation algorithms: PhEval - Phenotypic inference Evaluation framework. bioRxiv : the preprint server for biology (2024)
Yasemin Bridges, Vinícius De Souza, Katherina G Cortes, Melissa A Haendel, Nomi L Harris, Daniel R Korn, Nikolaos M Marinakis, Nicolas A Matentzoglu, James Alastair McLaughlin, Christopher John Mungall, David Osumi-Sutherland, Peter Nick Robinson, Damian Smedley, Julius O B Jacobsen
Towards a standard benchmark for variant and gene prioritisation algorithms: PhEval - Phenotypic inference Evaluation framework. bioRxiv : the preprint server for biology (2024)
Dana E Layo-Carris, Emily E Lubin, Annabel K Sangree, Kelly J Clark, Emily L Durham, Elizabeth M Gonzalez, Sarina Smith, Rajesh Angireddy, Xiao Min Wang, Erin Weiss, Annick Toutain, Roberto Mendoza-Londono, Lucie Dupuis, Nadirah Damseh, Danita Velasco, Maria Irene Valenzuela Palafoll, Marta Codina-Solà, Catherine Ziats, Jaclyn Have, Katie Clarkson, Dora Steel, Manju Kurian, Katy Barwick, Diana Carrasco, Aditi I Dagli, M J M Nowaczyk, Miroslava Hančárová, Šárka Bendová, Darina Prchalova, Zdenek Sedlacek, Alica Baxová, Catherine Bearce Nowak, Jessica Douglas, Wendy K Chung, Nicola Longo, Konrad Platzer, Chiara Klöckner, Luisa Averdunk, Dagmar Wieczorek, Ilona Krey, Christiane Zweier, André Reis, Tuğçe B Balcı, Marleen Simon, Hester Y Kroes, Antje Wiesener, Georgia Vasileiou, Nikolaos M Marinakis, Danai Veltra, Christalena Sofocleous, Konstantina Kosma, Joanne Traeger Synodinos, Konstantinos A Voudris, Marie-Laure Vuillaume, Paul Gueguen, Nicolas Derive, Estelle Colin, Clarisse Battault, Billie Au, Martin Delatycki, Mathew J Wallis, Lyndon Gallacher, Fatma Majdoub, Noor Smal, Sarah Weckhuysen, An-Sofie Schoonjans, R Frank Kooy, Marije Meuwissen, Benjamin T Cocanougher, Kathryn Taylor, Carolyn E Pizoli, Marie T McDonald, Philip James, Elizabeth R Roeder, Rebecca Littlejohn, Nicholas A Borja, Willa Thorson, Kristine King, Radka Stoeva, Manon Suerink, Esther A R Nibbeling, Stephanie Baskin, Gwenaël L E Guyader, Julie Kaplan, Candace Muss, Deanna Alexis Carere, Elizabeth Joyce Bhoj, Laura M Bryant
Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals. European journal of human genetics : EJHG 32 (8) (2024)
Nikolaos M Marinakis, Maria Svingou, Giorgos-Konstantinos Papadimas, Constantinos Papadopoulos, Elisabeth Chroni, Roser Pons, Evangelos Pavlou, Ioannis Sarmas, Konstantina Kosma, Paraskevi Apostolou, Christalena Sofocleous, Joanne Traeger Synodinos, Kyriaki Karampatou
Myotonia congenita in a Greek cohort: Genotype spectrum and impact of the CLCN1:c.501C > G variant as a genetic modifier. Muscle & nerve 70 (2) (2024)
Nikolaos M Marinakis, Maria Svingou, Giorgos-Konstantinos Papadimas, Constantinos Papadopoulos, Elisabeth Chroni, Roser Pons, Evangelos Pavlou, Ioannis Sarmas, Konstantina Kosma, Paraskevi Apostolou, Christalena Sofocleous, Joanne Traeger Synodinos, Kyriaki Karampatou
Myotonia congenita in a Greek cohort: Genotype spectrum and impact of the CLCN1:c.501C > G variant as a genetic modifier. Muscle & nerve (2024)
Dana E Layo-Carris, Emily E Lubin, Annabel K Sangree, Kelly J Clark, Emily L Durham, Elizabeth M Gonzalez, Sarina Smith, Rajesh Angireddy, Xiao Min Wang, Erin Weiss, Annick Toutain, Roberto Mendoza-Londono, Lucie Dupuis, Nadirah Damseh, Danita Velasco, Maria Irene Valenzuela Palafoll, Marta Codina-Solà, Catherine Ziats, Jaclyn Have, Katie Clarkson, Dora Steel, Manju Kurian, Katy Barwick, Diana Carrasco, Aditi I Dagli, M J M Nowaczyk, Miroslava Hančárová, Šárka Bendová, Darina Prchalova, Zdenek Sedlacek, Alica Baxová, Catherine Bearce Nowak, Jessica Douglas, Wendy K Chung, Nicola Longo, Konrad Platzer, Chiara Klöckner, Luisa Averdunk, Dagmar Wieczorek, Ilona Krey, Christiane Zweier, André Reis, Tuğçe B Balcı, Marleen Simon, Hester Y Kroes, Antje Wiesener, Georgia Vasileiou, Nikolaos M Marinakis, Danai Veltra, Christalena Sofocleous, Konstantina Kosma, Joanne Traeger Synodinos, Konstantinos A Voudris, Marie-Laure Vuillaume, Paul Gueguen, Nicolas Derive, Estelle Colin, Clarisse Battault, Billie Au, Martin Delatycki, Mathew J Wallis, Lyndon Gallacher, Fatma Majdoub, Noor Smal, Sarah Weckhuysen, An-Sofie Schoonjans, R Frank Kooy, Marije Meuwissen, Benjamin T Cocanougher, Kathryn Taylor, Carolyn E Pizoli, Marie T McDonald, Philip James, Elizabeth R Roeder, Rebecca Littlejohn, Nicholas A Borja, Willa Thorson, Kristine King, Radka Stoeva, Manon Suerink, Esther A R Nibbeling, Stephanie Baskin, Gwenaël L E Guyader, Julie Kaplan, Candace Muss, Deanna Alexis Carere, Elizabeth Joyce Bhoj, Laura M Bryant
Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals. European journal of human genetics : EJHG 32 (8) (2024)
Dana E Layo-Carris, Emily E Lubin, Annabel K Sangree, Kelly J Clark, Emily L Durham, Elizabeth M Gonzalez, Sarina Smith, Rajesh Angireddy, Xiao Min Wang, Erin Weiss, Annick Toutain, Roberto Mendoza-Londono, Lucie Dupuis, Nadirah Damseh, Danita Velasco, Maria Irene Valenzuela Palafoll, Marta Codina-Solà, Catherine Ziats, Jaclyn Have, Katie Clarkson, Dora Steel, Manju Kurian, Katy Barwick, Diana Carrasco, Aditi I Dagli, M J M Nowaczyk, Miroslava Hančárová, Šárka Bendová, Darina Prchalova, Zdenek Sedlacek, Alica Baxová, Catherine Bearce Nowak, Jessica Douglas, Wendy K Chung, Nicola Longo, Konrad Platzer, Chiara Klöckner, Luisa Averdunk, Dagmar Wieczorek, Ilona Krey, Christiane Zweier, André Reis, Tuğçe B Balcı, Marleen Simon, Hester Y Kroes, Antje Wiesener, Georgia Vasileiou, Nikolaos M Marinakis, Danai Veltra, Christalena Sofocleous, Konstantina Kosma, Joanne Traeger Synodinos, Konstantinos A Voudris, Marie-Laure Vuillaume, Paul Gueguen, Nicolas Derive, Estelle Colin, Clarisse Battault, Billie Au, Martin Delatycki, Mathew J Wallis, Lyndon Gallacher, Fatma Majdoub, Noor Smal, Sarah Weckhuysen, An-Sofie Schoonjans, R Frank Kooy, Marije Meuwissen, Benjamin T Cocanougher, Kathryn Taylor, Carolyn E Pizoli, Marie T McDonald, Philip James, Elizabeth R Roeder, Rebecca Littlejohn, Nicholas A Borja, Willa Thorson, Kristine King, Radka Stoeva, Manon Suerink, Esther A R Nibbeling, Stephanie Baskin, Gwenaël L E Guyader, Julie Kaplan, Candace Muss, Deanna Alexis Carere, Elizabeth Joyce Bhoj, Laura M Bryant
Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals. European journal of human genetics : EJHG (2024)
Dana E Layo-Carris, Emily E Lubin, Annabel K Sangree, Kelly J Clark, Emily L Durham, Elizabeth M Gonzalez, Sarina Smith, Rajesh Angireddy, Xiao Min Wang, Erin Weiss, Annick Toutain, Roberto Mendoza-Londono, Lucie Dupuis, Nadirah Damseh, Danita Velasco, Maria Irene Valenzuela Palafoll, Marta Codina-Solà, Catherine Ziats, Jaclyn Have, Katie Clarkson, Dora Steel, Manju Kurian, Katy Barwick, Diana Carrasco, Aditi I Dagli, M J M Nowaczyk, Miroslava Hančárová, Šárka Bendová, Darina Prchalova, Zdenek Sedlacek, Alica Baxová, Catherine Bearce Nowak, Jessica Douglas, Wendy K Chung, Nicola Longo, Konrad Platzer, Chiara Klöckner, Luisa Averdunk, Dagmar Wieczorek, Ilona Krey, Christiane Zweier, André Reis, Tuğçe B Balcı, Marleen Simon, Hester Y Kroes, Antje Wiesener, Georgia Vasileiou, Nikolaos M Marinakis, Danai Veltra, Christalena Sofocleous, Konstantina Kosma, Joanne Traeger Synodinos, Konstantinos A Voudris, Marie-Laure Vuillaume, Paul Gueguen, Nicolas Derive, Estelle Colin, Clarisse Battault, Billie Au, Martin Delatycki, Mathew J Wallis, Lyndon Gallacher, Fatma Majdoub, Noor Smal, Sarah Weckhuysen, An-Sofie Schoonjans, R Frank Kooy, Marije Meuwissen, Benjamin T Cocanougher, Kathryn Taylor, Carolyn E Pizoli, Marie T McDonald, Philip James, Elizabeth R Roeder, Rebecca Littlejohn, Nicholas A Borja, Willa Thorson, Kristine King, Radka Stoeva, Manon Suerink, Esther A R Nibbeling, Stephanie Baskin, Gwenaël L E Guyader, Julie Kaplan, Candace Muss, Deanna Alexis Carere, Elizabeth Joyce Bhoj, Laura M Bryant
Correction: Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals. European journal of human genetics : EJHG (2024)
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
Alport Syndrome: Clinical Utility of Early Genetic Diagnosis in Children. Genes 15 (8) (2024)
Danai Veltra, Nikolaos M Marinakis, Ioannis Kotsios, Polyxeni Delaporta, Kyriaki Karampatou, Konstantina Kosma, Joanne Traeger Synodinos, Christalena Sofocleous
Lethal Complications and Complex Genotypes in Shwachman Diamond Syndrome: Report of a Family with Recurrent Neonatal Deaths and a Case-Based Brief Review of the Literature. Children (Basel, Switzerland) 11 (6) (2024)
Dana E Layo-Carris, Emily E Lubin, Annabel K Sangree, Kelly J Clark, Emily L Durham, Elizabeth M Gonzalez, Sarina Smith, Rajesh Angireddy, Xiao Min Wang, Erin Weiss, Annick Toutain, Roberto Mendoza-Londono, Lucie Dupuis, Nadirah Damseh, Danita Velasco, Maria Irene Valenzuela Palafoll, Marta Codina-Solà, Catherine Ziats, Jaclyn Have, Katie Clarkson, Dora Steel, Manju Kurian, Katy Barwick, Diana Carrasco, Aditi I Dagli, M J M Nowaczyk, Miroslava Hančárová, Šárka Bendová, Darina Prchalova, Zdenek Sedlacek, Alica Baxová, Catherine Bearce Nowak, Jessica Douglas, Wendy K Chung, Nicola Longo, Konrad Platzer, Chiara Klöckner, Luisa Averdunk, Dagmar Wieczorek, Ilona Krey, Christiane Zweier, André Reis, Tuğçe B Balcı, Marleen Simon, Hester Y Kroes, Antje Wiesener, Georgia Vasileiou, Nikolaos M Marinakis, Danai Veltra, Christalena Sofocleous, Konstantina Kosma, Joanne Traeger Synodinos, Konstantinos A Voudris, Marie-Laure Vuillaume, Paul Gueguen, Nicolas Derive, Estelle Colin, Clarisse Battault, Billie Au, Martin Delatycki, Mathew J Wallis, Lyndon Gallacher, Fatma Majdoub, Noor Smal, Sarah Weckhuysen, An-Sofie Schoonjans, R Frank Kooy, Marije Meuwissen, Benjamin T Cocanougher, Kathryn Taylor, Carolyn E Pizoli, Marie T McDonald, Philip James, Elizabeth R Roeder, Rebecca Littlejohn, Nicholas A Borja, Willa Thorson, Kristine King, Radka Stoeva, Manon Suerink, Esther A R Nibbeling, Stephanie Baskin, Gwenaël L E Guyader, Julie Kaplan, Candace Muss, Deanna Alexis Carere, Elizabeth Joyce Bhoj, Laura M Bryant
Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals. European journal of human genetics : EJHG (2024)
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
Alport Syndrome: Clinical Utility of Early Genetic Diagnosis in Children. Genes 15 (8) (2024)
Dana E Layo-Carris, Emily E Lubin, Annabel K Sangree, Kelly J Clark, Emily L Durham, Elizabeth M Gonzalez, Sarina Smith, Rajesh Angireddy, Xiao Min Wang, Erin Weiss, Annick Toutain, Roberto Mendoza-Londono, Lucie Dupuis, Nadirah Damseh, Danita Velasco, Maria Irene Valenzuela Palafoll, Marta Codina-Solà, Catherine Ziats, Jaclyn Have, Katie Clarkson, Dora Steel, Manju Kurian, Katy Barwick, Diana Carrasco, Aditi I Dagli, M J M Nowaczyk, Miroslava Hančárová, Šárka Bendová, Darina Prchalova, Zdenek Sedlacek, Alica Baxová, Catherine Bearce Nowak, Jessica Douglas, Wendy K Chung, Nicola Longo, Konrad Platzer, Chiara Klöckner, Luisa Averdunk, Dagmar Wieczorek, Ilona Krey, Christiane Zweier, André Reis, Tuğçe B Balcı, Marleen Simon, Hester Y Kroes, Antje Wiesener, Georgia Vasileiou, Nikolaos M Marinakis, Danai Veltra, Christalena Sofocleous, Konstantina Kosma, Joanne Traeger Synodinos, Konstantinos A Voudris, Marie-Laure Vuillaume, Paul Gueguen, Nicolas Derive, Estelle Colin, Clarisse Battault, Billie Au, Martin Delatycki, Mathew J Wallis, Lyndon Gallacher, Fatma Majdoub, Noor Smal, Sarah Weckhuysen, An-Sofie Schoonjans, R Frank Kooy, Marije Meuwissen, Benjamin T Cocanougher, Kathryn Taylor, Carolyn E Pizoli, Marie T McDonald, Philip James, Elizabeth R Roeder, Rebecca Littlejohn, Nicholas A Borja, Willa Thorson, Kristine King, Radka Stoeva, Manon Suerink, Esther A R Nibbeling, Stephanie Baskin, Gwenaël L E Guyader, Julie Kaplan, Candace Muss, Deanna Alexis Carere, Elizabeth Joyce Bhoj, Laura M Bryant
Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals. European journal of human genetics : EJHG 32 (8) (2024)
Danai Veltra, Nikolaos M Marinakis, Ioannis Kotsios, Polyxeni Delaporta, Kyriaki Karampatou, Konstantina Kosma, Joanne Traeger Synodinos, Christalena Sofocleous
Lethal Complications and Complex Genotypes in Shwachman Diamond Syndrome: Report of a Family with Recurrent Neonatal Deaths and a Case-Based Brief Review of the Literature. Children (Basel, Switzerland) 11 (6) (2024)
Dana E Layo-Carris, Emily E Lubin, Annabel K Sangree, Kelly J Clark, Emily L Durham, Elizabeth M Gonzalez, Sarina Smith, Rajesh Angireddy, Xiao Min Wang, Erin Weiss, Roberto Mendoza-Londono, Lucie Dupuis, Nadirah Damseh, Danita Velasco, Maria Irene Valenzuela Palafoll, Marta Codina-Solà, Catherine Ziats, Jaclyn Have, Katie Clarkson, Dora Steel, Manju Kurian, Katy Barwick, Diana Carrasco, Aditi I Dagli, M J M Nowaczyk, Miroslava Hančárová, Šárka Bendová, Darina Prchalova, Zdenek Sedlacek, Alica Baxová, Catherine Bearce Nowak, Jessica Douglas, Wendy K Chung, Nicola Longo, Konrad Platzer, Chiara Klöckner, Luisa Averdunk, Dagmar Wieczorek, Ilona Krey, Christiane Zweier, André Reis, Tuğçe B Balcı, Marleen Simon, Hester Y Kroes, Antje Wiesener, Georgia Vasileiou, Nikolaos M Marinakis, Danai Veltra, Christalena Sofocleous, Konstantina Kosma, Joanne Traeger Synodinos, Konstantinos A Voudris, Marie-Laure Vuillaume, Paul Gueguen, Nicolas Derive, Estelle Colin, Clarisse Battault, Billie Au, Martin Delatycki, Mathew J Wallis, Lyndon Gallacher, Fatma Majdoub, Noor Smal, Sarah Weckhuysen, An-Sofie Schoonjans, R Frank Kooy, Marije Meuwissen, Benjamin T Cocanougher, Kathryn Taylor, Carolyn E Pizoli, Marie T McDonald, Philip James, Elizabeth R Roeder, Rebecca Littlejohn, Nicholas A Borja, Willa Thorson, Kristine King, Radka Stoeva, Manon Suerink, Esther A R Nibbeling, Stephanie Baskin, Gwenaël L E Guyader, Julie Kaplan, Candace Muss, Deanna Alexis Carere, Elizabeth Joyce Bhoj, Laura M Bryant
Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals. European journal of human genetics : EJHG (2024)
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
Combined exome analysis and exome depth assessment achieves a high diagnostic yield in an epilepsy case series, revealing significant genomic heterogeneity and novel mechanisms. Expert review of molecular diagnostics (2023)
Kyriaki Kekou, Maria Svingou, Nikos Vogiatzakis, Evangelia Nitsa, Danai Veltra, Nikolaos M Marinakis, Faidon-Nikolaos Tilemis, Maria Tzetis, Anastasios Mitrakos, Charalambia Tsaroucha, Nicoletta Selenti, Giorgos-Konstantinos Papadimas, Constantinos Papadopoulos, Joanne Traeger-Synodinos, Hanns Lochmuller, Christalena Sofocleous
Retrospective analysis of persistent HyperCKemia with or without muscle weakness in a case series from Greece highlights vast heterogeneous DMD gene variants. Expert review of molecular diagnostics (2023)
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
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 23 (1) (2023)
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
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 23 (1) (2023)
Faidon-Nikolaos Tilemis, Nikolaos M Marinakis, Danai Veltra, Maria Svingou, Kyriaki Karampatou, Anastasios Mitrakos, Maria Tzetis, Konstantina Kosma, Periklis Makrythanasis, Joanne Traeger Synodinos, Christalena Sofocleous
Germline CNV Detection through Whole-Exome Sequencing (WES) Data Analysis Enhances Resolution of Rare Genetic Diseases. Genes 14 (7) (2023)
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
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 23 (1) (2023)
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
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 23 (1) (2023)
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
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 (2023)
Nikolaos M Marinakis, Maria Svingou, Danai Veltra, Kyriaki Kekou, Christalena Sofocleous, Faidon-Nikolaos Tilemis, Konstantina Kosma, Eirini Tsoutsou, Helen Fryssira, Joanne Traeger-Synodinos
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 185 (8) (2021)

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Nikolaos M Marinakis