Kévin Uguen (Kevin Uguen)

ORCID

Publication Activity (10 Years)

Years Active: 2020-2024
Publications (10 Years): 20

Top Venues

Clinical genetics

American journal of medical genetics. Part A

Nature genetics

European journal of human genetics : EJHG

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

Publications

Rim Debbiche, Ahmad Elbahnsi, Kévin Uguen, Chandran Ka, Isabelle Callebaut, Gérald Le Gac
Insights into the role of glycerophospholipids on the iron export function of SLC40A1 and the molecular mechanisms of ferroportin disease. FASEB journal : official publication of the Federation of American Societies for Experimental Biology 38 (13) (2024)
Darcy L Fehlings, Mehdi Zarrei, Worrawat Engchuan, Neal Sondheimer, Bhooma Thiruvahindrapuram, Jeffrey R MacDonald, Edward J Higginbotham, Ritesh Thapa, Tarannum Behlim, Sabrina Aimola, Lauren Switzer, Pamela Ng, John Wei, Prakroothi S Danthi, Giovanna Pellecchia, Sylvia Lamoureux, Karen Ho, Sergio L Pereira, Jill de Rijke, Wilson W L Sung, Alireza Mowjoodi, Jennifer L Howe, Thomas Nalpathamkalam, Roozbeh Manshaei, Siavash Ghaffari, Joseph Whitney, Rohan V Patel, Omar Hamdan, Rulan Shaath, Brett Trost, Shannon Knights, Dawa Samdup, Anna McCormick, Carolyn Hunt, Adam Kirton, Anne Kawamura, Ronit Mesterman, Jan Willem Gorter, Nomazulu Dlamini, Daniele Merico, Murto Hilali, Kyle Hirschfeld, Kritika Grover, Nelson X Bautista, Kara Han, Christian R Marshall, Ryan K C Yuen, Padmaja Subbarao, Meghan B Azad, Stuart E Turvey, Piush Mandhane, Theo J Moraes, Elinor Simons, George Maxwell, Michael Shevell, Gregory Costain, Jacques L Michaud, Fadi F Hamdan, Julie Gauthier, Kévin Uguen, Dimitri J Stavropoulos, Richard F Wintle, Maryam Oskoui, Stephen W Scherer
Comprehensive whole-genome sequence analyses provide insights into the genomic architecture of cerebral palsy. Nature genetics (2024)
Darcy L Fehlings, Mehdi Zarrei, Worrawat Engchuan, Neal Sondheimer, Bhooma Thiruvahindrapuram, Jeffrey R MacDonald, Edward J Higginbotham, Ritesh Thapa, Tarannum Behlim, Sabrina Aimola, Lauren Switzer, Pamela Ng, John Wei, Prakroothi S Danthi, Giovanna Pellecchia, Sylvia Lamoureux, Karen Ho, Sergio L Pereira, Jill de Rijke, Wilson W L Sung, Alireza Mowjoodi, Jennifer L Howe, Thomas Nalpathamkalam, Roozbeh Manshaei, Siavash Ghaffari, Joseph Whitney, Rohan V Patel, Omar Hamdan, Rulan Shaath, Brett Trost, Shannon Knights, Dawa Samdup, Anna McCormick, Carolyn Hunt, Adam Kirton, Anne Kawamura, Ronit Mesterman, Jan Willem Gorter, Nomazulu Dlamini, Daniele Merico, Murto Hilali, Kyle Hirschfeld, Kritika Grover, Nelson X Bautista, Kara Han, Christian R Marshall, Ryan K C Yuen, Padmaja Subbarao, Meghan B Azad, Stuart E Turvey, Piush Mandhane, Theo J Moraes, Elinor Simons, George Maxwell, Michael Shevell, Gregory Costain, Jacques L Michaud, Fadi F Hamdan, Julie Gauthier, Kévin Uguen, Dimitri J Stavropoulos, Richard F Wintle, Maryam Oskoui, Stephen W Scherer
Comprehensive whole-genome sequence analyses provide insights into the genomic architecture of cerebral palsy. Nature genetics 56 (4) (2024)
Kévin Uguen, Jacques L Michaud, French Exome Consortium
Short Tandem Repeats in the era of next-generation sequencing: from historical loci to population databases. European journal of human genetics : EJHG 32 (9) (2024)
Kévin Uguen, Sylvia Redon, Karen Rouault, Marine Pensec, Caroline Benech, Sacha Schutz, Xavier Zanlonghi, Yann Nadjar, Cédric Le Maréchal, Claude Férec, Séverine Audebert-Bellanger
An unusual diagnosis of alpha-mannosidosis with ocular anomalies: Behind the scenes of a hidden copy number variation. American journal of medical genetics. Part A 194 (5) (2024)
Kévin Uguen, Sylvia Redon, Karen Rouault, Marine Pensec, Caroline Benech, Sacha Schutz, Xavier Zanlonghi, Yann Nadjar, Cédric Le Maréchal, Claude Férec, Séverine Audebert-Bellanger
An unusual diagnosis of alpha-mannosidosis with ocular anomalies: Behind the scenes of a hidden copy number variation. American journal of medical genetics. Part A 194 (5) (2024)
Kévin Uguen, Sylvia Redon, Karen Rouault, Marine Pensec, Caroline Benech, Sacha Schutz, Xavier Zanlonghi, Yann Nadjar, Cédric Le Maréchal, Claude Férec, Séverine Audebert-Bellanger
An unusual diagnosis of alpha-mannosidosis with ocular anomalies: Behind the scenes of a hidden copy number variation. American journal of medical genetics. Part A 194 (5) (2024)
Darcy L Fehlings, Mehdi Zarrei, Worrawat Engchuan, Neal Sondheimer, Bhooma Thiruvahindrapuram, Jeffrey R MacDonald, Edward J Higginbotham, Ritesh Thapa, Tarannum Behlim, Sabrina Aimola, Lauren Switzer, Pamela Ng, John Wei, Prakroothi S Danthi, Giovanna Pellecchia, Sylvia Lamoureux, Karen Ho, Sergio L Pereira, Jill de Rijke, Wilson W L Sung, Alireza Mowjoodi, Jennifer L Howe, Thomas Nalpathamkalam, Roozbeh Manshaei, Siavash Ghaffari, Joseph Whitney, Rohan V Patel, Omar Hamdan, Rulan Shaath, Brett Trost, Shannon Knights, Dawa Samdup, Anna McCormick, Carolyn Hunt, Adam Kirton, Anne Kawamura, Ronit Mesterman, Jan Willem Gorter, Nomazulu Dlamini, Daniele Merico, Murto Hilali, Kyle Hirschfeld, Kritika Grover, Nelson X Bautista, Kara Han, Christian R Marshall, Ryan K C Yuen, Padmaja Subbarao, Meghan B Azad, Stuart E Turvey, Piush Mandhane, Theo J Moraes, Elinor Simons, George Maxwell, Michael Shevell, Gregory Costain, Jacques L Michaud, Fadi F Hamdan, Julie Gauthier, Kévin Uguen, Dimitri J Stavropoulos, Richard F Wintle, Maryam Oskoui, Stephen W Scherer
Comprehensive whole-genome sequence analyses provide insights into the genomic architecture of cerebral palsy. Nature genetics 56 (4) (2024)
Kévin Uguen, Sylvia Redon, Karen Rouault, Marine Pensec, Caroline Benech, Sacha Schutz, Xavier Zanlonghi, Yann Nadjar, Cédric Le Maréchal, Claude Férec, Séverine Audebert-Bellanger
An unusual diagnosis of alpha-mannosidosis with ocular anomalies: Behind the scenes of a hidden copy number variation. American journal of medical genetics. Part A (2024)
Kévin Uguen, Jacques L Michaud, French Exome Consortium
Short Tandem Repeats in the era of next-generation sequencing: from historical loci to population databases. European journal of human genetics : EJHG (2024)
Darcy L Fehlings, Mehdi Zarrei, Worrawat Engchuan, Neal Sondheimer, Bhooma Thiruvahindrapuram, Jeffrey R MacDonald, Edward J Higginbotham, Ritesh Thapa, Tarannum Behlim, Sabrina Aimola, Lauren Switzer, Pamela Ng, John Wei, Prakroothi S Danthi, Giovanna Pellecchia, Sylvia Lamoureux, Karen Ho, Sergio L Pereira, Jill de Rijke, Wilson W L Sung, Alireza Mowjoodi, Jennifer L Howe, Thomas Nalpathamkalam, Roozbeh Manshaei, Siavash Ghaffari, Joseph Whitney, Rohan V Patel, Omar Hamdan, Rulan Shaath, Brett Trost, Shannon Knights, Dawa Samdup, Anna McCormick, Carolyn Hunt, Adam Kirton, Anne Kawamura, Ronit Mesterman, Jan Willem Gorter, Nomazulu Dlamini, Daniele Merico, Murto Hilali, Kyle Hirschfeld, Kritika Grover, Nelson X Bautista, Kara Han, Christian R Marshall, Ryan K C Yuen, Padmaja Subbarao, Meghan B Azad, Stuart E Turvey, Piush Mandhane, Theo J Moraes, Elinor Simons, George Maxwell, Michael Shevell, Gregory Costain, Jacques L Michaud, Fadi F Hamdan, Julie Gauthier, Kévin Uguen, Dimitri J Stavropoulos, Richard F Wintle, Maryam Oskoui, Stephen W Scherer
Comprehensive whole-genome sequence analyses provide insights into the genomic architecture of cerebral palsy. Nature genetics 56 (4) (2024)
Rim Debbiche, Ahmad Elbahnsi, Kévin Uguen, Chandran Ka, Isabelle Callebaut, Gérald Le Gac
Insights into the role of glycerophospholipids on the iron export function of SLC40A1 and the molecular mechanisms of ferroportin disease. FASEB journal : official publication of the Federation of American Societies for Experimental Biology 38 (13) (2024)
Julie Masson, Céline Pebrel-Richard, Matthieu Egloff, Mathilde Frétigny, Marion Beaumont, Kévin Uguen, Pierre-Antoine Rollat-Farnier, Flavie Diguet, Isabelle Perthus, Gwenaël Le Gudayer, Damien Haye, Marie-Noëlle Bonnet Dupeyron, Audrey Putoux, Fabienne Raskin-Champion, Marianne Till, Nicolas Chatron, Bérénice Doray, Claire Bardel, Christine Vinciguerra, Damien Sanlaville, Caroline Schluth-Bolard
Familial transmission of chromoanagenesis leads to unpredictable unbalanced rearrangements through meiotic recombination. Clinical genetics 103 (4) (2023)
Julie Masson, Céline Pebrel-Richard, Matthieu Egloff, Mathilde Frétigny, Marion Beaumont, Kévin Uguen, Pierre-Antoine Rollat-Farnier, Flavie Diguet, Isabelle Perthus, Gwenaël Le Gudayer, Damien Haye, Marie-Noëlle Bonnet Dupeyron, Audrey Putoux, Fabienne Raskin-Champion, Marianne Till, Nicolas Chatron, Bérénice Doray, Claire Bardel, Christine Vinciguerra, Damien Sanlaville, Caroline Schluth-Bolard
Familial transmission of chromoanagenesis leads to unpredictable unbalanced rearrangements through meiotic recombination. Clinical genetics 103 (4) (2023)
Julie Masson, Céline Pebrel-Richard, Matthieu Egloff, Mathilde Frétigny, Marion Beaumont, Kévin Uguen, Pierre-Antoine Rollat-Farnier, Flavie Diguet, Isabelle Perthus, Gwenaël Le Gudayer, Damien Haye, Marie-Noëlle Bonnet Dupeyron, Audrey Putoux, Fabienne Raskin-Champion, Marianne Till, Nicolas Chatron, Bérénice Doray, Claire Bardel, Christine Vinciguerra, Damien Sanlaville, Caroline Schluth-Bolard
Familial transmission of chromoanagenesis leads to unpredictable unbalanced rearrangements through meiotic recombination. Clinical genetics 103 (4) (2023)
Julie Masson, Céline Pebrel-Richard, Matthieu Egloff, Mathilde Frétigny, Marion Beaumont, Kévin Uguen, Pierre-Antoine Rollat-Farnier, Flavie Diguet, Isabelle Perthus, Gwenaël le Gudayer, Damien Haye, Marie-Noëlle Bonnet Dupeyron, Audrey Putoux, Fabienne Raskin-Champion, Marianne Till, Nicolas Chatron, Bérénice Doray, Claire Bardel, Christine Vinciguerra, Damien Sanlaville, Caroline Schluth-Bolard
Familial transmission of chromoanagenesis leads to unpredictable unbalanced rearrangements through meiotic recombination. Clinical genetics (2022)
Julie Masson, Céline Pebrel-Richard, Matthieu Egloff, Mathilde Frétigny, Marion Beaumont, Kévin Uguen, Pierre-Antoine Rollat-Farnier, Flavie Diguet, Isabelle Perthus, Gwenaël Le Gudayer, Damien Haye, Marie-Noëlle Bonnet Dupeyron, Audrey Putoux, Fabienne Raskin-Champion, Marianne Till, Nicolas Chatron, Bérénice Doray, Claire Bardel, Christine Vinciguerra, Damien Sanlaville, Caroline Schluth-Bolard
Familial transmission of chromoanagenesis leads to unpredictable unbalanced rearrangements through meiotic recombination. Clinical genetics (2022)
Loïc Couloigner, Marc Planes, Chandran Ka, Séverine Audebert-Bellanger, Sylvia Redon, Caroline Benech, Karen Rouault, Sébastien Küry, Sylviane Peudenier, Sandrine Autret, Isabelle Gourlaouen, Dominique Bonneau, Sylvie Odent, Stéphane Bézieau, Brigitte Gilbert-Dussardier, Annick Toutain, Anne Boland, Jean-François Deleuze, Cédric Le Marechal, Gérald Le Gac, Claude Ferec, Kévin Uguen
A new case of Kaufman Oculocerebrofacial syndrome caused by two splicing variants in UBE3B and review of the literature. Clinical genetics (2022)
Kévin Uguen, Kilannin Krysiak, Séverine Audebert-Bellanger, Sylvia Redon, Caroline Benech, Eléonore Viora-Dupont, Frederic Tran Mau-Them, Sophie Rondeau, Ibrahim Elsharkawi, Jorge L Granadillo, Julie Neidich, Celia Azevedo Soares, Natáliya Tkachenko, Shivarajan M Amudhavalli, Kendra Engleman, Anne Boland, Jean-François Deleuze, Stéphane Bezieau, Sylvie Odent, Annick Toutain, Dominique Bonneau, Brigitte Gilbert-Dussardier, Laurence Faivre, Marlène Rio, Cedric Le Marechal, Claude Ferec, Elena Repnikova, Yang Cao
Heterozygous HMGB1 loss-of-function variants are associated with developmental delay and microcephaly. Clinical genetics 100 (4) (2021)
Kévin Uguen, Claire Jubin, Yannis Duffourd, Claire Bardel, Valérie Malan, Jean-Michel Dupont, Laila El Khattabi, Nicolas Chatron, Antonio Vitobello, Pierre-Antoine Rollat-Farnier, Céline Baulard, Marc Lelorch, Aurélie Leduc, Emilie Tisserant, Frédéric Tran Mau-Them, Vincent Danjean, Marc Delepine, Marianne Till, Vincent Meyer, Stanislas Lyonnet, Anne-Laure Mosca-Boidron, Julien Thevenon, Laurence Olivier-Faivre, Christel Thauvin-Robinet, Caroline Schluth-Bolard, Anne Boland, Robert Olaso, Patrick Callier, Serge Romana, Jean-François Deleuze, Damien Sanlaville
Genome sequencing in cytogenetics: Comparison of short-read and linked-read approaches for germline structural variant detection and characterization. Molecular genetics & genomic medicine 8 (3) (2020)

Kévin Uguen.css-eqlu8i{font-size:small;padding-left:4px;} (Kevin Uguen)

Publication Activity (10 Years)

Top Topics

Top Venues

Kévin Uguen (Kevin Uguen)