Guillaume Cogan

Publication Activity (10 Years)

Years Active: 2023-2024
Publications (10 Years): 13

Top Topics

Top Venues

medRxiv : the preprint server for health sciences

Movement disorders : official journal of the Movement Disorder Society

NPJ Parkinson's disease

Prenatal diagnosis

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

Publications

Pilar Alvarez Jerez, Kensuke Daida, Abigail Miano-Burkhardt, Hirotaka Iwaki, Laksh Malik, Guillaume Cogan, Mary B Makarious, Roisin Sullivan, Jana Vandrovcova, Jinhui Ding, Raphael J Gibbs, Androo Markham, Michael A Nalls, Rupesh K Kesharwani, Fritz J Sedlazeck, Kimberley J Billingsley, John Hardy, Henry Houlden, Cornelis Blauwendraat, Andrew B Singleton, Kimberley J Billingsley
Profiling complex repeat expansions in RFC1 in Parkinson's disease. NPJ Parkinson's disease 10 (1) (2024)
Guillaume Cogan, Kensuke Daida, Kimberley J Billingsley, Christelle Tesson, Sylvie Forlani, Ludmila Jornea, Lionel Arnaud, Laurène Tissier, Eric LeGuern, Andrew B Singleton, Mélanie Ferrien, Hélène Gervais Bernard, Suzanne Lesage, Cornelis Blauwendraat, Alexis Brice
Long-Read Sequencing Unravels the Complexity of Structural Variants in PRKN in Two Individuals with Early-Onset Parkinson's Disease. Movement disorders : official journal of the Movement Disorder Society (2024)
Guillaume Cogan, Kensuke Daida, Kimberley J Billingsley, Christelle Tesson, Sylvie Forlani, Ludmila Jornea, Lionel Arnaud, Laurène Tissier, Eric LeGuern, Andrew B Singleton, Mélanie Ferrien, Hélène Gervais Bernard, Suzanne Lesage, Cornelis Blauwendraat, Alexis Brice
Long-Read Sequencing Unravels the Complexity of Structural Variants in PRKN in Two Individuals with Early-Onset Parkinson's Disease. Movement disorders : official journal of the Movement Disorder Society (2024)
Francesca Magrinelli, Christelle Tesson, Plamena R Angelova, Ainara Salazar-Villacorta, Jose A Rodriguez, Annarita Scardamaglia, Brian Hon-Yin Chung, Matthew Jaconelli, Barbara Vona, Noemí Esteras, Anna Ka-Yee Kwong, Thomas Courtin, Reza Maroofian, Shahryar Alavi, Raja S Nirujogi, Mariasavina Severino, Patrick A Lewis, Stephanie Efthymiou, Benjamin J O'Callaghan, Rebecca Buchert, Linda Sofan, Pawel Lis, Chloé Pinon, Guido J Breedveld, Martin Man Chun Chui, David P Murphy, Vanessa Pitz, Mary B Makarious, Marlene Cassar, Bassem A Hassan, Sana Iftikhar, Clarissa Rocca, Peter Bauer, Michele Tinazzi, Marina Svetel, Bedia Samanci, Hasmet A Hanagasi, Basar Bilgiç, Jose A Obeso, Mónica M Kurtis, Guillaume Cogan, Ayse Nazli Basak, Güneş Kiziltan, Tuğçe Gül, Gül Yalçın Çakmaklı, Bülent Elibol, Nina Barisic, Earny Wei-Sen Ng, Sze-Shing Fan, Tova Hershkovitz, Karin Weiss, Javeria Raza Alvi, Tipu Sultan, Issam Azmi Alkhawaja, Tawfiq Froukh, Hadeel Abdollah E Alrukban, Christine Fauth, Ulrich A Schatz, Thomas Zöggeler, Michael Zech, Karen L Stals, Vinod C Varghese, Sonia Gandhi, Cornelis Blauwendraat, John A Hardy, Suzanne Lesage, Vincenzo Bonifati, Tobias B Haack, Aida Maria Bertoli-Avella, Robert Steinfeld, Dario R Alessi, Hermann Steller, Alexis Brice, Andrey Y Abramov, Kailash P Bhatia, Henry Houlden
PSMF1 variants cause a phenotypic spectrum from early-onset Parkinson's disease to perinatal lethality by disrupting mitochondrial pathways. medRxiv : the preprint server for health sciences (2024)
Francesca Magrinelli, Christelle Tesson, Plamena R Angelova, Ainara Salazar-Villacorta, Jose A Rodriguez, Annarita Scardamaglia, Brian Hon-Yin Chung, Matthew Jaconelli, Barbara Vona, Noemí Esteras, Anna Ka-Yee Kwong, Thomas Courtin, Reza Maroofian, Shahryar Alavi, Raja S Nirujogi, Mariasavina Severino, Patrick A Lewis, Stephanie Efthymiou, Benjamin J O'Callaghan, Rebecca Buchert, Linda Sofan, Pawel Lis, Chloé Pinon, Guido J Breedveld, Martin Man Chun Chui, David P Murphy, Vanessa Pitz, Mary B Makarious, Marlene Cassar, Bassem A Hassan, Sana Iftikhar, Clarissa Rocca, Peter Bauer, Michele Tinazzi, Marina Svetel, Bedia Samanci, Hasmet A Hanagasi, Basar Bilgiç, Jose A Obeso, Mónica M Kurtis, Guillaume Cogan, Ayse Nazli Basak, Güneş Kiziltan, Tuğçe Gül, Gül Yalçın Çakmaklı, Bülent Elibol, Nina Barisic, Earny Wei-Sen Ng, Sze-Shing Fan, Tova Hershkovitz, Karin Weiss, Javeria Raza Alvi, Tipu Sultan, Issam Azmi Alkhawaja, Tawfiq Froukh, Hadeel Abdollah E Alrukban, Christine Fauth, Ulrich A Schatz, Thomas Zöggeler, Michael Zech, Karen L Stals, Vinod C Varghese, Sonia Gandhi, Cornelis Blauwendraat, John A Hardy, Suzanne Lesage, Vincenzo Bonifati, Tobias B Haack, Aida Maria Bertoli-Avella, Robert Steinfeld, Dario R Alessi, Hermann Steller, Alexis Brice, Andrey Y Abramov, Kailash P Bhatia, Henry Houlden
PSMF1 variants cause a phenotypic spectrum from early-onset Parkinson's disease to perinatal lethality by disrupting mitochondrial pathways. medRxiv : the preprint server for health sciences (2024)
Pilar Alvarez Jerez, Kensuke Daida, Abigail Miano-Burkhardt, Hirotaka Iwaki, Laksh Malik, Guillaume Cogan, Mary B Makarious, Roisin Sullivan, Jana Vandrovcova, Jinhui Ding, Raphael J Gibbs, Androo Markham, Michael A Nalls, Rupesh K Kesharwani, Fritz J Sedlazeck, Kimberley J Billingsley, John Hardy, Henry Houlden, Cornelis Blauwendraat, Andrew B Singleton, Kimberley J Billingsley
Profiling complex repeat expansions in RFC1 in Parkinson's disease. NPJ Parkinson's disease 10 (1) (2024)
Francesca Magrinelli, Christelle Tesson, Plamena R Angelova, Ainara Salazar-Villacorta, Jose A Rodriguez, Annarita Scardamaglia, Brian Hon-Yin Chung, Matthew Jaconelli, Barbara Vona, Noemí Esteras, Anna Ka-Yee Kwong, Thomas Courtin, Reza Maroofian, Shahryar Alavi, Raja S Nirujogi, Mariasavina Severino, Patrick A Lewis, Stephanie Efthymiou, Benjamin J O'Callaghan, Rebecca Buchert, Linda Sofan, Pawel Lis, Chloé Pinon, Guido J Breedveld, Martin Man Chun Chui, David P Murphy, Vanessa Pitz, Mary B Makarious, Marlene Cassar, Bassem A Hassan, Sana Iftikhar, Clarissa Rocca, Peter Bauer, Michele Tinazzi, Marina Svetel, Bedia Samanci, Hasmet A Hanagasi, Basar Bilgiç, Jose A Obeso, Mónica M Kurtis, Guillaume Cogan, Ayse Nazli Basak, Güneş Kiziltan, Tuğçe Gül, Gül Yalçın Çakmaklı, Bülent Elibol, Nina Barisic, Earny Wei-Sen Ng, Sze-Shing Fan, Tova Hershkovitz, Karin Weiss, Javeria Raza Alvi, Tipu Sultan, Issam Azmi Alkhawaja, Tawfiq Froukh, Hadeel Abdollah E Alrukban, Christine Fauth, Ulrich A Schatz, Thomas Zöggeler, Michael Zech, Karen L Stals, Vinod C Varghese, Sonia Gandhi, Cornelis Blauwendraat, John A Hardy, Suzanne Lesage, Vincenzo Bonifati, Tobias B Haack, Aida Maria Bertoli-Avella, Robert Steinfeld, Dario R Alessi, Hermann Steller, Alexis Brice, Andrey Y Abramov, Kailash P Bhatia, Henry Houlden
PSMF1 variants cause a phenotypic spectrum from early-onset Parkinson's disease to perinatal lethality by disrupting mitochondrial pathways. medRxiv : the preprint server for health sciences (2024)
Guillaume Cogan, Kensuke Daida, Kimberley J Billingsley, Christelle Tesson, Sylvie Forlani, Ludmila Jornea, Lionel Arnaud, Laurene Tissier, Eric Le Guern, Andrew B Singleton, Mélanie Ferrien, Hélène Gervais Bernard, Suzanne Lesage, Cornelis Blauwendraat, Alexis Brice
Long-read sequencing unravels the complexity of structural variants in PRKN in two individuals with early-onset Parkinson's disease. medRxiv : the preprint server for health sciences (2024)
Guillaume Cogan, Christelle Tesson, Christine Brefel-Courbon, Aymeric Lanore, Gatepe Cedoine Kodjovi, Lisa Welment, Fabienne Clot, Suzanne Lesage, Alexis Brice
Confirmation of RAB32 Ser71Arg Involvement in Parkinson's Disease. Movement disorders : official journal of the Movement Disorder Society (2024)
Guillaume Cogan, Kensuke Daida, Kimberley J Billingsley, Christelle Tesson, Sylvie Forlani, Ludmila Jornea, Lionel Arnaud, Laurene Tissier, Eric Le Guern, Andrew B Singleton, Mélanie Ferrien, Hélène Gervais Bernard, Suzanne Lesage, Cornelis Blauwendraat, Alexis Brice
Long-read sequencing unravels the complexity of structural variants in PRKN in two individuals with early-onset Parkinson's disease. medRxiv : the preprint server for health sciences (2024)
Guillaume Cogan, Nicolas Bourgon, Roxana Borghese, Emmanuel Julien, Aurélia Jaquette, Bertrand Stos, Amale Achaiaa, Sophie Chuon, Patrick Nitschke, Cécile Fourrage, Julien Stirnemann, Lucile Boutaud, Tania Attie-Bitach
Diagnosis of Menke-Hennekam syndrome by prenatal whole exome sequencing and review of prenatal signs. Molecular genetics & genomic medicine (2023)
Cécile Courdier, John Boudjarane, Valérie Malan, Christine Muti, Brian Sperelakis-Beedham, Sylvie Odent, Sylvie Jaillard, Chloé Quelin, Cédric Le Caignec, Olivier Patat, Charlotte Dubucs, Sophie Julia, Caroline Schluth-Bolard, Carole Goumy, Sylvia Redon, Jean-Baptiste Gaillard, Minh Tuan Huynh, Céline Dupont, Anne-Claude Tabet, Guillaume Cogan, François Vialard, Rodolphe Dard, Guillaume Jedraszak, Florence Jobic, Mathilde Lefebvre, Geneviève Quenum, Saori Inai, Mélanie Rama, Fanny Sauvestre, Frédéric Coatleven, Julie Thomas, Caroline Rooryck
Antenatal ultrasound features of isolated recurrent copy number variation in 7q11.23 (Williams syndrome and 7q11.23 duplication syndrome). Prenatal diagnosis (2023)
Cécile Courdier, John Boudjarane, Valérie Malan, Christine Muti, Brian Sperelakis-Beedham, Sylvie Odent, Sylvie Jaillard, Chloé Quelin, Cédric Le Caignec, Olivier Patat, Charlotte Dubucs, Sophie Julia, Caroline Schluth-Bolard, Carole Goumy, Sylvia Redon, Jean-Baptiste Gaillard, Minh Tuan Huynh, Céline Dupont, Anne-Claude Tabet, Guillaume Cogan, François Vialard, Rodolphe Dard, Guillaume Jedraszak, Florence Jobic, Mathilde Lefebvre, Geneviève Quenum, Saori Inai, Mélanie Rama, Fanny Sauvestre, Frédéric Coatleven, Julie Thomas, Caroline Rooryck
Antenatal ultrasound features of isolated recurrent copy number variation in 7q11.23 (Williams syndrome and 7q11.23 duplication syndrome). Prenatal diagnosis (2023)