Paul Kuentz (P Kuentz)

ResearcherID ORCID

Publication Activity (10 Years)

Years Active: 2016-2024
Publications (10 Years): 43

Top Venues

American journal of medical genetics. Part A

European journal of human genetics : EJHG

Clinical genetics

Communications biology

Centre Hospitalier Régional Universitaire de Besançon

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

Affiliation History

Centre Hospitalier Régional Universitaire de Besançon Sep 01 2017

France

Maître de Conférences des Universités-Praticien Hospitalier :: Génétique Biologique, PCBio

Publications

Paul Kuentz, Camille Engel, Mathieu Laeng, Martin Chevarin, Yannis Duffourd, Jéhanne Martel, Juliette Piard, Fanny Morice-Picard, Hélène Aubert, Didier Bessis, Anne-Marie Guerrot, Annabel Maruani, Olivia Boccara, Mazereeuw-Hautier Juliette, Hagen Ott, Alice Phan, Eve Puzenat, Chloe Quelin, Christel Thauvin-Robinet, Laurence Faivre, Pierre Vabres
Clinical phenotype of the PIK3R1-related vascular overgrowth syndrome. The British journal of dermatology (2024)
Valentin Ruault, Pauline Burger, Johanna Gradels-Hauguel, Nathalie Ruiz, null null, Rami Abou Jamra, Alexandra Afenjar, Yves Alembik, Jean-Luc Alessandri, Stéphanie Arpin, Giulia Barcia, Šárka Bendová, Ange-Line Bruel, Perrine Charles, Nicolas Chatron, Maya Chopra, Solène Conrad, Valérie Cormier Daire, Auriane Cospain, Christine Coubes, Juliette Coursimault, Andrée Delahaye-Duriez, Martine Doco, William Dufour, Benjamin Durand, Camille Engel, Laurence Olivier-Faivre, Fanny Ferroul, Mélanie Fradin, Hélène Frenkiel, Carlo Fusco, Livia Garavelli, Aurore Garde, Bénédicte Gerard, David Germanaud, Louise Goujon, Aurélie Gouronc, Emmanuelle Ginglinger, Alice Goldenberg, Miroslava Hancarova, Markéta Havlovicová, Delphine Heron, Bertrand Isidor, Nolwenn Jean Marçais, Boris Keren, Margarete Koch-Hogrebe, Paul Kuentz, Victoria Lamure, Anne-Sophie Lebre, François Lecoquierre, Natacha Lehman, Gaetan Lesca, Stanislas Lyonnet, Delphine Martin, Cyril Mignot, Teresa M Neuhann, Gaël Nicolas, Mathilde Nizon, Florence Petit, Christophe Philippe, Amélie Piton, Marzia Pollazzon, Darina Prchalová, Audrey Putoux, Marlène Rio, Sophie Rondeau, Massimiliano Rossi, Quentin Sabbagh, Pascale Saugier-Veber, Ariane Schmetz, Julie Steffann, Christel Thauvin-Robinet, Annick Toutain, Frédéric Tran Mau Them, Gabriele Trimarchi, Marie Vincent, Markéta Vlčková, Dagmar Wieczorek, Marjolaine Willems, Kevin Yauy, Michaela Zelinová, Alban Ziegler, null null, Boris Chaumette, Bekim Sadikovic, Jean-Louis Mandel, David Geneviève
Lessons from two series by physicians and caregivers' self-reported data in DDX3X-related disorders. Molecular genetics & genomic medicine 12 (1) (2024)
Camille Engel, Martin Chevarin, Juliette Piard, Marine Abad, Quentin Thomas, Virginie Carmignac, Yannis Duffourd, Martine Lemesle-Martin, Georges Tarris, Christel Thauvin-Robinet, Pierre Vabres, Laurence Faivre, Paul Kuentz
Allelic heterogeneity in a patient with postzygotic MTOR-related hypomelanosis of Ito with neurodevelopmental abnormalities. Clinical genetics (2024)
Valentin Ruault, Pauline Burger, Johanna Gradels-Hauguel, Nathalie Ruiz, null null, Rami Abou Jamra, Alexandra Afenjar, Yves Alembik, Jean-Luc Alessandri, Stéphanie Arpin, Giulia Barcia, Šárka Bendová, Ange-Line Bruel, Perrine Charles, Nicolas Chatron, Maya Chopra, Solène Conrad, Valérie Cormier Daire, Auriane Cospain, Christine Coubes, Juliette Coursimault, Andrée Delahaye-Duriez, Martine Doco, William Dufour, Benjamin Durand, Camille Engel, Laurence Olivier-Faivre, Fanny Ferroul, Mélanie Fradin, Hélène Frenkiel, Carlo Fusco, Livia Garavelli, Aurore Garde, Bénédicte Gerard, David Germanaud, Louise Goujon, Aurélie Gouronc, Emmanuelle Ginglinger, Alice Goldenberg, Miroslava Hancarova, Markéta Havlovicová, Delphine Heron, Bertrand Isidor, Nolwenn Jean Marçais, Boris Keren, Margarete Koch-Hogrebe, Paul Kuentz, Victoria Lamure, Anne-Sophie Lebre, François Lecoquierre, Natacha Lehman, Gaetan Lesca, Stanislas Lyonnet, Delphine Martin, Cyril Mignot, Teresa M Neuhann, Gaël Nicolas, Mathilde Nizon, Florence Petit, Christophe Philippe, Amélie Piton, Marzia Pollazzon, Darina Prchalová, Audrey Putoux, Marlène Rio, Sophie Rondeau, Massimiliano Rossi, Quentin Sabbagh, Pascale Saugier-Veber, Ariane Schmetz, Julie Steffann, Christel Thauvin-Robinet, Annick Toutain, Frédéric Tran Mau Them, Gabriele Trimarchi, Marie Vincent, Markéta Vlčková, Dagmar Wieczorek, Marjolaine Willems, Kevin Yauy, Michaela Zelinová, Alban Ziegler, null null, Boris Chaumette, Bekim Sadikovic, Jean-Louis Mandel, David Geneviève
Lessons from two series by physicians and caregivers' self-reported data in DDX3X-related disorders. Molecular genetics & genomic medicine 12 (1) (2024)
Valentin Ruault, Pauline Burger, Johanna Gradels-Hauguel, Nathalie Ruiz, null null, Rami Abou Jamra, Alexandra Afenjar, Yves Alembik, Jean-Luc Alessandri, Stéphanie Arpin, Giulia Barcia, Šárka Bendová, Ange-Line Bruel, Perrine Charles, Nicolas Chatron, Maya Chopra, Solène Conrad, Valérie Cormier Daire, Auriane Cospain, Christine Coubes, Juliette Coursimault, Andrée Delahaye-Duriez, Martine Doco, William Dufour, Benjamin Durand, Camille Engel, Laurence Olivier-Faivre, Fanny Ferroul, Mélanie Fradin, Hélène Frenkiel, Carlo Fusco, Livia Garavelli, Aurore Garde, Bénédicte Gerard, David Germanaud, Louise Goujon, Aurélie Gouronc, Emmanuelle Ginglinger, Alice Goldenberg, Miroslava Hancarova, Markéta Havlovicová, Delphine Heron, Bertrand Isidor, Nolwenn Jean Marçais, Boris Keren, Margarete Koch-Hogrebe, Paul Kuentz, Victoria Lamure, Anne-Sophie Lebre, François Lecoquierre, Natacha Lehman, Gaetan Lesca, Stanislas Lyonnet, Delphine Martin, Cyril Mignot, Teresa M Neuhann, Gaël Nicolas, Mathilde Nizon, Florence Petit, Christophe Philippe, Amélie Piton, Marzia Pollazzon, Darina Prchalová, Audrey Putoux, Marlène Rio, Sophie Rondeau, Massimiliano Rossi, Quentin Sabbagh, Pascale Saugier-Veber, Ariane Schmetz, Julie Steffann, Christel Thauvin-Robinet, Annick Toutain, Frédéric Tran Mau Them, Gabriele Trimarchi, Marie Vincent, Markéta Vlčková, Dagmar Wieczorek, Marjolaine Willems, Kevin Yauy, Michaela Zelinová, Alban Ziegler, null null, Boris Chaumette, Bekim Sadikovic, Jean-Louis Mandel, David Geneviève
Lessons from two series by physicians and caregivers' self-reported data in DDX3X-related disorders. Molecular genetics & genomic medicine 12 (1) (2024)
Amama Ghaffar, Tehmeena Akhter, Petter Strømme, Doriana Misceo, Amjad Khan, Eirik Frengen, Muhammad Umair, Bertrand Isidor, Benjamin Cogné, Asma A Khan, Ange-Line Bruel, Arthur Sorlin, Paul Kuentz, Christine Chiaverini, A Micheil Innes, Michael Zech, Marek Baláž, Petra Havrankova, Robert Jech, Zubair M Ahmed, Sheikh Riazuddin, Saima Riazuddin
Variants of NAV3, a neuronal morphogenesis protein, cause intellectual disability, developmental delay, and microcephaly. Communications biology 7 (1) (2024)
Camille Engel, Martin Chevarin, Juliette Piard, Marine Abad, Quentin Thomas, Virginie Carmignac, Yannis Duffourd, Martine Lemesle-Martin, Georges Tarris, Christel Thauvin-Robinet, Pierre Vabres, Laurence Faivre, Paul Kuentz
Allelic heterogeneity in a patient with postzygotic MTOR-related hypomelanosis of Ito with neurodevelopmental abnormalities. Clinical genetics 105 (5) (2024)
Paul Kuentz, Camille Engel, Mathieu Laeng, Martin Chevarin, Yannis Duffourd, Jéhanne Martel, Juliette Piard, Fanny Morice-Picard, Hélène Aubert, Didier Bessis, Guerrot Anne Marie, Annabel Maruani, Olivia Boccara, Mazereeuw-Hautier Juliette, Hagen Ott, Alice Phan, Eve Puzenat, Chloe Quelin, Christel Thauvin-Robinet, Laurence Olivier-Faivre, Pierre Vabres
Clinical phenotype of the PIK3R1-related vascular overgrowth syndrome. The British journal of dermatology 191 (2) (2024)
Amama Ghaffar, Tehmeena Akhter, Petter Strømme, Doriana Misceo, Amjad Khan, Eirik Frengen, Muhammad Umair, Bertrand Isidor, Benjamin Cogné, Asma A Khan, Ange-Line Bruel, Arthur Sorlin, Paul Kuentz, Christine Chiaverini, A Micheil Innes, Michael Zech, Marek Baláž, Petra Havrankova, Robert Jech, Zubair M Ahmed, Sheikh Riazuddin, Saima Riazuddin
Variants of NAV3, a neuronal morphogenesis protein, cause intellectual disability, developmental delay, and microcephaly. Communications biology 7 (1) (2024)
Camille Engel, Martin Chevarin, Juliette Piard, Marine Abad, Quentin Thomas, Virginie Carmignac, Yannis Duffourd, Martine Lemesle-Martin, Georges Tarris, Christel Thauvin-Robinet, Pierre Vabres, Laurence Faivre, Paul Kuentz
Allelic heterogeneity in a patient with postzygotic MTOR-related hypomelanosis of Ito with neurodevelopmental abnormalities. Clinical genetics 105 (5) (2024)
Camille Engel, Martin Chevarin, Juliette Piard, Marine Abad, Quentin Thomas, Virginie Carmignac, Yannis Duffourd, Martine Lemesle-Martin, Georges Tarris, Christel Thauvin-Robinet, Pierre Vabres, Laurence Faivre, Paul Kuentz
Allelic heterogeneity in a patient with postzygotic MTOR-related hypomelanosis of Ito with neurodevelopmental abnormalities. Clinical genetics 105 (5) (2024)
Amama Ghaffar, Tehmeena Akhter, Petter Strømme, Doriana Misceo, Amjad Khan, Eirik Frengen, Muhammad Umair, Bertrand Isidor, Benjamin Cogné, Asma A Khan, Ange-Line Bruel, Arthur Sorlin, Paul Kuentz, Christine Chiaverini, A Micheil Innes, Michael Zech, Marek Baláž, Petra Havrankova, Robert Jech, Zubair M Ahmed, Sheikh Riazuddin, Saima Riazuddin
Variants of NAV3, a neuronal morphogenesis protein, cause intellectual disability, developmental delay, and microcephaly. Communications biology 7 (1) (2024)
Amama Ghaffar, Tehmeena Akhter, Petter Strømme, Doriana Misceo, Amjad Khan, Eirik Frengen, Muhammad Umair, Bertrand Isidor, Benjamin Cogné, Asma A Khan, Ange-Line Bruel, Arthur Sorlin, Paul Kuentz, Christine Chiaverini, A Micheil Innes, Michael Zech, Marek Baláž, Petra Havrankova, Robert Jech, Zubair M Ahmed, Sheikh Riazuddin, Saima Riazuddin
Variants of NAV3, a neuronal morphogenesis protein, cause intellectual disability, developmental delay, and microcephaly. Communications biology 7 (1) (2024)
Paul Kuentz, Camille Engel, Mathieu Laeng, Martin Chevarin, Yannis Duffourd, Jéhanne Martel, Juliette Piard, Fanny Morice-Picard, Hélène Aubert, Didier Bessis, Guerrot Anne Marie, Annabel Maruani, Olivia Boccara, Mazereeuw-Hautier Juliette, Hagen Ott, Alice Phan, Eve Puzenat, Chloe Quelin, Christel Thauvin-Robinet, Laurence Olivier-Faivre, Pierre Vabres
Clinical phenotype of the PIK3R1-related vascular overgrowth syndrome. The British journal of dermatology 191 (2) (2024)
Camille Engel, Stéphanie Valence, Geoffroy Delplancq, Reza Maroofian, Andrea Accogli, Emanuele Agolini, Fowzan Sami Alkuraya, Valentina Baglioni, Irene Bagnasco, Mathilde Becmeur-Lefebvre, Enrico Silvio Bertini, Ingo Borggraefe, Elise Brischoux-Boucher, Ange-Line Bruel, Alfredo Brusco, Dalal K Bubshait, Christelle Cabrol, Maria Roberta Cilio, Marie-Coralie Cornet, Christine Coubes, Olivier Danhaive, Valérie Delague, Anne Sophie Denommé-Pichon, Marilena Carmela Di Giacomo, Martine Doco-Fenzy, Hartmut Engels, Kirsten Cremer, Marion Gérard, Joseph G Gleeson, Delphine Heron, Joanna Goffeney, Anne Guimier, Frederike L Harms, Henry Houlden, Michele Iacomino, Rauan Kaiyrzhanov, Benjamin Kamien, Ehsan Ghayoor Karimiani, Dror Kraus, Paul Kuentz, Kerstin Kutsche, Damien Lederer, Lauren Massingham, Cyril Mignot, Deborah J Morris-Rosendahl, Lakshmi Nagarajan, Sylvie Odent, Clothilde Ormières, Jennifer Neil Partlow, Laurent Pasquier, Lynette Penney, Christophe Philippe, Gianluca Piccolo, Cathryn Poulton, Audrey Putoux, Marlène Rio, Christelle Rougeot, Vincenzo Salpietro, Ingrid Scheffer, Amy L Schneider, Siddharth Srivastava, Rachel Straussberg, Pasquale Striano, Enza Maria Valente, Perrine Venot, Laurent Villard, Antonio Vitobello, Johanna Wagner, Matias Wagner, Maha Saad Zaki, Federizo Zara, Gaëtan Lesca, Vahid Reza Yassaee, Mohammad Miryounesi, Feyzollah Hashemi-Gorji, Mehran Beiraghi, Farah Ashrafzadeh, Hamid Galehdari, Christopher A Walsh, Antonio Novelli, Moritz Tacke, Dinara Sadykova, Yerdan Maidyrov, Kairgali Koneev, Chingiz Shashkin, Valeria Capra, Mina Zamani, Lionel Van Maldergem, Lydie Burglen, Juliette Piard
BRAT1-related disorders: phenotypic spectrum and phenotype-genotype correlations from 97 patients. European journal of human genetics : EJHG (2023)
Daniah Albokhari, Amanda Barone Pritchard, Adelyn Beil, Candace Muss, Caleb P Bupp, Dorothy K Grange, Geoffroy Delplancq, Jennifer Heeley, Melissa Zuteck, Michelle M Morrow, Paul Kuentz, Timothy Blake Palculict, Julie Elizabeth Hoover-Fong
TELO2-related syndrome (You-Hoover-Fong syndrome): Description of 14 new affected individuals and review of the literature. American journal of medical genetics. Part A (2023)
Emilie Tisserant, Antonio Vitobello, Davide Callegarin, Simon Verdez, Ange-Line Bruel, Ludwig Serge Aho Glélé, Arthur Sorlin, Eleonore Viora-Dupont, Marina Konyukh, Nathalie Marle, Sophie Nambot, Sebastien Moutton, Caroline Racine, Aurore Garde, Julian Delanne, Frédéric Tran Mau Them, Christophe Philippe, Paul Kuentz, Marlène Poulleau, Muriel Payet, Charlotte Poe, Christel Thauvin-Robinet, Laurence Olivier-Faivre, Anne-Laure Mosca-Boidron, Julien Thevenon, Yannis Duffourd, Patrick Callier
Copy number variants calling from WES data through eXome hidden Markov model (XHMM) identifies additional 2.5% pathogenic genomic imbalances smaller than 30 kb undetected by array-CGH. Annals of human genetics 86 (4) (2022)
Clémence Jacquin, Emilie Landais, Céline Poirsier, Alexandra Afenjar, Ahmad Akhavi, Nathalie Bednarek, Caroline Bénech, Adeline Bonnard, Damien Bosquet, Lydie Burglen, Patrick Callier, Sandra Chantot-Bastaraud, Christine Coubes, Charles Coutton, Bruno Delobel, Margaux Descharmes, Jean-Michel Dupont, Vincent Gatinois, Nicolas Gruchy, Sarah Guterman, Abdelkader Heddar, Lucas Herissant, Delphine Heron, Bertrand Isidor, Pauline Jaeger, Guillaume Jouret, Boris Keren, Paul Kuentz, Cedric Le Caignec, Jonathan Lévy, Nathalie Lopez, Zoe Manssens, Dominique Martin-Coignard, Isabelle Marey, Cyril Mignot, Chantal Missirian, Céline Pebrel-Richard, Lucile Pinson, Jacques Puechberty, Sylvia Redon, Damien Sanlaville, Marta Spodenkiewicz, Anne-Claude Tabet, Alain Verloes, Gaelle Vieville, Catherine Yardin, François Vialard, Martine Doco-Fenzy
1p36 deletion syndrome: Review and mapping with further characterization of the phenotype, a new cohort of 86 patients. American journal of medical genetics. Part A (2022)
Nicolas Bourgon, Aurore Garde, Ange-Line Bruel, Mathilde Lefebvre, Frédéric Tran Mau Them, Sebastien Moutton, Arthur Sorlin, Sophie Nambot, Julian Delanne, Martin Chevarin, Charlotte Pöe, Julien Thevenon, Daphné Lehalle, Nolween Jean-Marçais, Paul Kuentz, Laetitia Lambert, Salima El Chehadeh, Elise Schaefer, Marjolaine Willems, Fanny Laffargue, Christine Francannet, Mélanie Fradin, Dominique Gaillard, Sophie Blesson, Alice Goldenberg, Yline Capri, Paul Sagot, Thierry Rousseau, Emmanuel Simon, Christine Binquet, Marie-Laure Ascencio, Yannis Duffourd, Christophe Philippe, Laurence Faivre, Antonio Vitobello, Christel Thauvin-Robinet
Same performance of exome sequencing before and after fetal autopsy for congenital abnormalities: toward a paradigm shift in prenatal diagnosis? European journal of human genetics : EJHG 30 (8) (2022)
Guillaume Jouret, Matthieu Egloff, Emilie Landais, Olivier Tassy, Fabienne Giuliano, Houda Karmous-Benailly, Charles Coutton, Véronique Satre, Françoise Devillard, Klaus Dieterich, Gaëlle Vieville, Paul Kuentz, Cédric le Caignec, Claire Beneteau, Bertrand Isidor, Mathilde Nizon, Patrick Callier, Valentine Marquet, Eric Bieth, Jonathan Lévy, Anne-Claude Tabet, Stanislas Lyonnet, Geneviève Baujat, Marlène Rio, François Cartault, Sophie Scheidecker, Aurélie Gouronc, Audrey Schalk, Clémence Jacquin, Marta Spodenkiewicz, Chloé Angélini, Perrine Pennamen, Caroline Rooryck, Martine Doco-Fenzy, Céline Poirsier
Clinical and genomic delineation of the new proximal 19p13.3 microduplication syndrome. American journal of medical genetics. Part A (2022)
A Sorlin, Virginie Carmignac, J Amiel, Olivia Boccara, S Fraitag, A Maruani, Martin Theiler, L Weibel, Y Duffourd, C Philippe, C Thauvin-Robinet, L Faivre, J-B Rivière, P Vabres, Paul Kuentz
Expanding the clinical spectrum of mosaic BRAF skin phenotypes. Journal of the European Academy of Dermatology and Venereology : JEADV 35 (10) (2021)
Martin Theiler, Lisa Weibel, Stephanie Christen-Zaech, Virginie Carmignac, A Sorlin, Kathrin Neuhaus, M Chevarin, C Thauvin-Robinet, C Philippe, L Faivre, P Vabres, Paul Kuentz
Cerebriform sebaceous nevus: a subtype of organoid nevus due to specific postzygotic FGFR2 mutations. Journal of the European Academy of Dermatology and Venereology : JEADV 35 (10) (2021)
Leila Ghesh, Thomas Besnard, Mathilde Nizon, Eva Trochu, Gaëlle Landeau-Trottier, Flora Breheret, Christel Thauvin-Robinet, Ange-Line Bruel, Paul Kuentz, Christine Coubes, Laurence Cuisset, Cyril Mignot, Boris Keren, Stéphane Bézieau, Benjamin Cogné
Loss-of-function variants in ARHGEF9 are associated with an X-linked intellectual disability dominant disorder. Human mutation 42 (5) (2021)
Geoffroy Delplancq, Mohamed Abdelatif Boukebir, Daniel Amsallem, Laurent Thines, Virginie Rozé, Eric Dahlen, Lionel Van Maldergem, Paul Kuentz
The Largest Germline Heterozygous Deletion Encompassing Potocki-Shaffer and WAGR Syndromes Loci to Date: A Case Report. Neuropediatrics (2021)
Jean-Marie Ravel, Natacha Dreumont, Pauline Mosca, Desiree E C Smith, Marisa I Mendes, Arnaud Wiedemann, David Coelho, Emmanuelle Schmitt, Jean-Baptiste Rivière, Frédéric Tran Mau Them, Julien Thevenon, Paul Kuentz, Marc Polivka, Sabine A Fuchs, Gautam Kok, Christel Thauvin-Robinet, Jean-Louis Guéant, Gajja S Salomons, Laurence Faivre, François Feillet
A bi-allelic loss-of-function SARS1 variant in children with neurodevelopmental delay, deafness, cardiomyopathy, and decompensation during fever. Human mutation 42 (12) (2021)
Sofia Douzgou Houge, Myfanwy Rawson, Eulalia Baselga, Moise Danielpour, Laurence Faivre, Alon Kashanian, Kim M Keppler-Noreuil, Paul Kuentz, Grazia Maria Simonetta Mancini, Marie-Cecile Maniere, Victor Martínez-González, Victoria E Parker, Robert K Semple, Siddharth Srivastava, Pierre Vabres, Marie-Claire Y De Wit, John M Graham, Jill Clayton-Smith, Ghayda M Mirzaa, Barbara B Biesecker
A standard of care for individuals with PIK3CA-related disorders: An international expert consensus statement. Clinical genetics 101 (1) (2021)
Slavica Trajkova, Eleonora Di Gregorio, Giovanni Battista Ferrero, Diana Carli, Lisa Pavinato, Geoffroy Delplancq, Paul Kuentz, Alfredo Brusco
New Insights into Potocki-Shaffer Syndrome: Report of Two Novel Cases and Literature Review. Brain sciences 10 (11) (2020)
Aurélien Juven, Sophie Nambot, Amelie Piton, Nolwenn Jean-Marçais, Alice Masurel, Patrick Callier, Nathalie Marle, Anne-Laure Mosca-Boidron, Paul Kuentz, Christophe Philippe, Martin Chevarin, Yannis Duffourd, Elodie Gautier, Arnold Munnich, Marlène Rio, Sophie Rondeau, Salima El Chehadeh, Élise Schaefer, Bénédicte Gérard, Sonia Bouquillon, Catherine Vincent Delorme, Christine Francannet, Fanny Laffargue, Laetitia Gouas, Bertrand Isidor, Marie Vincent, Sophie Blesson, Fabienne Giuliano, Olivier Pichon, Cédric Le Caignec, Hubert Journel, Laurence Perrin-Sabourin, Jennifer Fabre-Teste, Dominique Martin, Gaelle Vieville, Klaus Dieterich, Didier Lacombe, Anne Sophie Denommé-Pichon, Christel Thauvin-Robinet, Laurence Faivre
Primrose syndrome: a phenotypic comparison of patients with a ZBTB20 missense variant versus a 3q13.31 microdeletion including ZBTB20. European journal of human genetics : EJHG 28 (8) (2020)
Daphne Lehalle, Pierre Vabres, Arthur Sorlin, Tatjana Bierhals, Magali Avila, Virginie Carmignac, Martin Chevarin, Erin Torti, Yuichi Abe, Tobias Bartolomaeus, Jill Clayton-Smith, Benjamin Cogné, Ivon Cusco, Laurence Duplomb, Eveline De Bont, Yannis Duffourd, Floor Duijkers, Orly Elpeleg, Aviva Fattal, David Geneviève, Maria J Guillen Sacoto, Anne Guimier, David J Harris, Maja Hempel, Bertrand Isidor, Thibaud Jouan, Paul Kuentz, Eriko Koshimizu, Klaske Lichtenbelt, Valerie Loik Ramey, Miriam Maik, Sakoto Miyakate, Yoshiko Murakami, Laurent Pasquier, Helio Pedro, Laurie Simone, Krista Sondergaard-Schatz, Judith St-Onge, Julien Thevenon, Irene Valenzuela, Rami Abou Jamra, Koen van Gassen, Mieke M van Haelst, Silvana van Koningsbruggen, Edgard Verdura, Christa Whelan Habela, Pia Zacher, Jean-Baptiste Rivière, Christel Thauvin-Robinet, Joerg Betschinger, Laurence Olivier-Faivre
De novo mutations in the X-linked TFE3 gene cause intellectual disability with pigmentary mosaicism and storage disorder-like features. Journal of medical genetics 57 (12) (2020)
Michele Bertacchi, Anna Lisa Romano, Agnès Loubat, Frederic Tran Mau-Them, Marjolaine Willems, Laurence Faivre, Philippe Khau van Kien, Laurence Perrin, Françoise Devillard, Arthur Sorlin, Paul Kuentz, Christophe Philippe, Aurore Garde, Francesco Neri, Rossella Di Giaimo, Salvatore Oliviero, Isabel Y Buchsbaum, Ludovico D'Incerti, Carolina Frassoni, Michèle Studer
NR2F1 regulates regional progenitor dynamics in the mouse neocortex and cortical gyrification in BBSOAS patients. The EMBO journal 39 (13) (2020)
Mirna Assoum, Ange-Line Bruel, Melissa L Crenshaw, Julian Delanne, Ingrid M Wentzensen, Kirsty McWalter, Karin M Dent, Antonio Vitobello, Paul Kuentz, Julien Thevenon, Yannis Duffourd, Christel Thauvin-Robinet, Laurence Olivier-Faivre
Novel KIAA1033/WASHC4 mutations in three patients with syndromic intellectual disability and a review of the literature. American journal of medical genetics. Part A 182 (4) (2020)
Martin Chevarin, Yannis Duffourd, Rebecca A Barnard, Sébastien Moutton, Francois Lecoquierre, Fatma Daoud, Paul Kuentz, Caroline Cabret, Julien Thevenon, Elodie Gautier, Patrick Callier, Judith St-Onge, Thibaud Jouan, Didier Lacombe, Marie Ange Delrue, Cyril Goizet, Fanny Morice-Picard, Julien Van-Gils, Arnold Munnich, Stanislas Lyonnet, Valérie Cormier-Daire, Geneviève Baujat, Muriel Holder, Florence Petit, Bruno Leheup, Sylvie Odent, Pierre-Simon Jouk, Gipsy Lopez, David Geneviève, Patrick Collignon, Dominique Martin-Coignard, Aurélia Jacquette, Laurence Perrin, Audrey Putoux, Elisabeth Sarrazin, Khadija Amarof, Isabelle Missotte, Christine Coubes, Sujatha Jagadeesh, Elisabetta Lapi, Florence Demurger, Alice Goldenberg, Martine Doco-Fenzy, Cyril Mignot, Delphine Héron, Nolwenn Jean-Marçais, Alice Masurel, Salima El Chehadeh, Nathalie Marle, Frédéric Huet, Christine Binquet, Gwenaëlle Collod-Beroud, Pauline Arnaud, Nadine Hanna, Catherine Boileau, Guillaume Jondeau, Robert Olaso, Doris Lechner, Charlotte Poe, Mirna Assoum, Virginie Carmignac, Laurence Duplomb, Frédéric Tran Mau-Them, Christophe Philippe, Antonio Vitobello, Ange-Line Bruel, Anne Boland, Jean-François Deleuze, Christel Thauvin-Robinet, Jean-Baptiste Rivière, Brian J O'Roak, Laurence Olivier-Faivre
Excess of de novo variants in genes involved in chromatin remodelling in patients with marfanoid habitus and intellectual disability. Journal of medical genetics 57 (7) (2020)
Geoffroy Delplancq, Georges Tarris, Antonio Vitobello, Sophie Nambot, Arthur Sorlin, Christophe Philippe, Virginie Carmignac, Yannis Duffourd, Charlotte Denis, Jean Christophe Eicher, Martin Chevarin, Gilles Millat, Bouchra Khallouk, Thierry Rousseau, Sylvie Falcon-Eicher, Alexandre Vasiljevic, Fara T Harizay, Christel Thauvin-Robinet, Laurence Olivier-Faivre, Paul Kuentz
Cardiomyopathy due to PRDM16 mutation: First description of a fetal presentation, with possible modifier genes. American journal of medical genetics. Part C, Seminars in medical genetics 184 (1) (2020)
Marguerite Hureaux, Sarah Guterman, Bérénice Hervé, Marianne Till, Sylvie Jaillard, Sylvie Redon, Myléne Valduga, Charles Coutton, Chantal Missirian, Fabienne Prieur, Brigitte Simon-Bouy, Claire Beneteau, Paul Kuentz, Caroline Rooryck, Nicolas Gruchy, Nathalie Marle, Morgane Plutino, Lucie Tosca, Celine Dupont, Jacques Puechberty, Caroline Schluth-Bolard, Laurent Salomon, Damien Sanlaville, Valérie Malan, François Vialard
Chromosomal microarray analysis in fetuses with an isolated congenital heart defect: A retrospective, nationwide, multicenter study in France. Prenatal diagnosis 39 (6) (2019)
Christel Thauvin-Robinet, Julien Thevenon, Sophie Nambot, Julian Delanne, Paul Kuentz, Ange-Line Bruel, Aline Chassagne, Elodie Cretin, Aurore Pelissier, Chritine Peyron, Elodie Gautier, Daphné Lehalle, Nolwenn Jean-Marçais, Patrick Callier, Anne-Laure Mosca-Boidron, Antonio Vitobello, Arthur Sorlin, Frédéric Tran Mau-Them, Christophe Philippe, Pierre Vabres, Laurent Demougeot, Charlotte Poé, Thibaud Jouan, Martin Chevarin, Mathilde Lefebvre, Marc Bardou, Emilie Tisserant, Maxime Luu, Christine Binquet, Jean-François Deleuze, Céline Verstuyft, Yannis Duffourd, Laurence Faivre
Secondary actionable findings identified by exome sequencing: expected impact on the organisation of care from the study of 700 consecutive tests. European journal of human genetics : EJHG 27 (8) (2019)
Pierre Vabres, Arthur Sorlin, Stanislav S Kholmanskikh, Bénédicte Demeer, Judith St-Onge, Yannis Duffourd, Paul Kuentz, Jean-Benoît Courcet, Virginie Carmignac, Philippine Garret, Didier Bessis, Odile Boute, Alain-Marie Bron, Guillaume Captier, Esther Carmi, Bernard Devauchelle, David Geneviève, Catherine Gondry-Jouet, Laurent Guibaud, Arnaud Lafon, Michèle Mathieu-Dramard, Julien Thevenon, William B Dobyns, Geneviève Bernard, Satyamaanasa Polubothu, Francesca Faravelli, Veronica A Kinsler, Christel Thauvin, Laurence Faivre, Margaret Elizabeth Ross, Jean-Baptiste Rivière
Postzygotic inactivating mutations of RHOA cause a mosaic neuroectodermal syndrome. Nature genetics 51 (10) (2019)
Daphne Lehalle, Roberto Colombo, Michael O'Grady, Bénédicte Héron, Nada Houcinat, Paul Kuentz, Sebastien Moutton, Arthur Sorlin, Julien Thevenon, Julian Delanne, Sebastien Gay, Caroline Racine, Aurore Garde, Frédéric Tran Mau-Them, Christophe Philippe, Antonio Vitobello, Sophie Nambot, Frédéric Huet, Yannis Duffourd, François Feillet, Christel Thauvin-Robinet, Sandrine Marlin, Laurence Olivier-Faivre
Hearing impairment as an early sign of alpha-mannosidosis in children with a mild phenotype: Report of seven new cases. American journal of medical genetics. Part A 179 (9) (2019)
Nicolas Bourgon, Mathilde Lefebvre, Paul Kuentz, Julien Thevenon, Thibaud Jouan, Yannis Duffourd, Christophe Philippe, Frédéric Tran Mau-Them, Christine Durand, Faratanjona Harizay, Nicole Laurent, Thierry Rousseau, Laurence Faivre, Christel Thauvin-Robinet
Prenatal presentation of Aicardi-Goutières syndrome: Nonspecific phenotype necessitates exome sequencing for definitive diagnosis. Prenatal diagnosis 39 (9) (2019)
Kamran Moradkhani, Laurence Cuisset, Pierre Boisseau, Olivier Pichon, Marine Lebrun, Houda Hamdi-Rozé, Marie-Laure Maurin, Nicolas Gruchy, Marie-Christine Manca-Pellissier, Perrine Malzac, Frédéric Bilan, Marie-Pierre Audrezet, Pascale Saugier-Veber, Anne-Laure Fauret-Amsellem, Chantal Missirian, Paul Kuentz, Gregory Egea, Agnès Guichet, Isabelle Creveaux, Caroline Janel, Ines Harzallah, Renaud Touraine, Carole Goumy, Nicole Joyé, Jacques Puechberty, Emmanuelle Haquet, Sandra Chantot-Bastaraud, Sébastien Schmitt, Philippe Gosset, Bénédicte Duban-Bedu, Bruno Delobel, Philippe Vago, François Vialard, Denise Molina Gomes, Jean-Pierre Siffroi, Jean-Paul Bonnefont, Jean-Michel Dupont, Philippe Jonveaux, Martine Doco-Fenzy, Damien Sanlaville, Cédric Le Caignec
Risk estimation of uniparental disomy of chromosome 14 or 15 in a fetus with a parent carrying a non-homologous Robertsonian translocation. Should we still perform prenatal diagnosis? Prenatal diagnosis 39 (11) (2019)
C Lemattre, J Thevenon, Y Duffourd, S Nambot, E Haquet, B Vuadelle, D Genevieve, P Sarda, A L Bruel, Paul Kuentz, C F Wells, Laurence Olivier-Faivre, Marjolaine Willems
TBL1XR1 mutations in Pierpont syndrome are not restricted to the recurrent p.Tyr446Cys mutation. American journal of medical genetics. Part A 176 (12) (2018)
Jean-Luc Alessandri, Christopher T Gordon, Marie-Line Jacquemont, Nicolas Gruchy, Norbert F Ajeawung, Guillaume Benoist, Myriam Oufadem, Asma Chebil, Yannis Duffourd, Coralie Dumont, Marion Gérard, Paul Kuentz, Thibaud Jouan, Francesca Filippini, Thi Tuyet Mai Nguyen, Olivier Alibeu, Christine Bole-Feysot, Patrick Nitschké, Asma Omarjee, Duksha Ramful, Hanitra Randrianaivo, Bérénice Doray, Laurence Faivre, Jeanne Amiel, Philippe M Campeau, Julien Thevenon
Recessive loss of function PIGN alleles, including an intragenic deletion with founder effect in La Réunion Island, in patients with Fryns syndrome. European journal of human genetics : EJHG 26 (3) (2018)
Paul Kuentz, Judith St-Onge, Yannis Duffourd, Jean-Benoît Courcet, Virginie Carmignac, Thibaud Jouan, Arthur Sorlin, Claire Abasq-Thomas, Juliette Albuisson, Jeanne Amiel, Daniel Amram, Stéphanie Arpin, Tania Attie-Bitach, Nadia Bahi-Buisson, Sébastien Barbarot, Geneviève Baujat, Didier Bessis, Olivia Boccara, Maryse Bonnière, Odile Boute, Anne-Claire Bursztejn, Christine Chiaverini, Valerie Cormier-Daire, Christine Coubes, Bruno Delobel, Patrick Edery, Salima El Chehadeh, Christine Francannet, David Genevieve, Alice Goldenberg, Damien Haye, Bertrand Isidor, Marie-Line Jacquemont, Philippe Khau Van Kien, Didier Lacombe, Ludovic Martin, Jelena Martinovic, Annabel Maruani, Michèle Mathieu-Dramard, Juliette Mazereeuw-Hautier, Caroline Michot, Mignot Cyril, Juliette Miquel, Fanny Morice-Picard, Florence Petit, Alice Phan, Massimiliano Rossi, Renaud Touraine, Alain Verloes, Marie Vincent, Catherine Vincent-Delorme, Sandra Whalen, Marjolaine Willems, Nathalie Marle, Daphne Lehalle, Julien Thevenon, Christel Thauvin-Robinet, Christel Thauvin-Robinet, Laurence Faivre, Pierre Vabres, Jean-Baptiste Rivière
Molecular diagnosis of PIK3CA-related overgrowth spectrum (PROS) in 162 patients and recommendations for genetic testing. Genetics in medicine : official journal of the American College of Medical Genetics 19 (9) (2017)
Salima El Chehadeh, Wilhelmina S Kerstjens-Frederikse, Julien Thevenon, Paul Kuentz, Ange-Line Bruel, Christel Thauvin-Robinet, Candace Bensignor, Hélène Dollfus, Vincent Laugel, Jean-Baptiste Rivière, Yannis Duffourd, Caroline Bonnet, Matthieu P Robert, Rodica Isaiko, Morgane Straub, Catherine Creuzot-Garcher, Patrick Calvas, Nicolas Chassaing, Bart Loeys, Edwin Reyniers, Geert Vandeweyer, R Frank Kooy, Miroslava Hančárová, Marketa Havlovicová, Darina Prchalová, Zdenek Sedláček, Christian Gilissen, Rolph Pfundt, Jolien S Klein Wassink-Ruiter, Laurence Faivre
Dominant variants in the splicing factor PUF60 cause a recognizable syndrome with intellectual disability, heart defects and short stature. European journal of human genetics : EJHG 25 (1) (2016)

Paul Kuentz.css-eqlu8i{font-size:small;padding-left:4px;} (P Kuentz)

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Paul Kuentz (P Kuentz)