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A framework for conducting GWAS using repeated measures data with an application to childhood BMI
Burrows, Kimberley, Heiskala, Anni, Bradfield, Jonathan P., Balkhiyarova, Zhanna, Ning, Lijiao, Boissel, Mathilde, Chan, Yee-Ming, Froguel, Philippe, Bonnefond, Amelie, Hakonarson, Hakon, Alves, Alexessander Couto, Lawlor, Deborah A., Kaakinen, Marika, Järvelin, Marjo-Riitta, Grant, Struan F. A., Tilling, Kate, Prokopenko, Inga, Sebert, Sylvain, Canouil, Mickaël, Warrington, Nicole M.
Published in Nature communications (20.11.2024)
Published in Nature communications (20.11.2024)
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Journal Article
Exploring the role of purinergic receptor P2RY1 in type 2 diabetes risk and pathophysiology: Insights from human functional genomics
Dance, Arnaud, Fernandes, Justine, Toussaint, Bénédicte, Vaillant, Emmanuel, Boutry, Raphaël, Baron, Morgane, Loiselle, Hélène, Balkau, Beverley, Charpentier, Guillaume, Franc, Sylvia, Ibberson, Mark, Marre, Michel, Gernay, Marie, Fadeur, Marjorie, Paquot, Nicolas, Vaxillaire, Martine, Boissel, Mathilde, Amanzougarene, Souhila, Derhourhi, Mehdi, Khamis, Amna, Froguel, Philippe, Bonnefond, Amélie
Published in Molecular metabolism (Germany) (01.01.2024)
Published in Molecular metabolism (Germany) (01.01.2024)
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Journal Article
Web Resource
Identification of Key Regions Mediating Human Melatonin Type 1 Receptor Functional Selectivity Revealed by Natural Variants
Hegron, Alan, Huh, Eunna, Deupi, Xavier, Sokrat, Badr, Gao, Wenwen, Le Gouill, Christian, Canouil, Mickaël, Boissel, Mathilde, Charpentier, Guillaume, Roussel, Ronan, Balkau, Beverley, Froguel, Philippe, Plouffe, Bianca, Bonnefond, Amélie, Lichtarge, Olivier, Jockers, Ralf, Bouvier, Michel
Published in ACS pharmacology & translational science (08.10.2021)
Published in ACS pharmacology & translational science (08.10.2021)
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Journal Article
Bidirectional Mendelian Randomization and Multiphenotype GWAS Show Causality and Shared Pathophysiology Between Depression and Type 2 Diabetes
Maina, Jared G., Balkhiyarova, Zhanna, Nouwen, Arie, Pupko, Igor, Ulrich, Anna, Boissel, Mathilde, Bonnefond, Amélie, Froguel, Philippe, Khamis, Amna, Prokopenko, Inga, Kaakinen, Marika
Published in Diabetes care (01.09.2023)
Published in Diabetes care (01.09.2023)
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Journal Article
Loss-of-function mutations in MRAP2 are pathogenic in hyperphagic obesity with hyperglycemia and hypertension
Baron, Morgane, Maillet, Julie, Huyvaert, Marlène, Dechaume, Aurélie, Boutry, Raphaël, Loiselle, Hélène, Durand, Emmanuelle, Toussaint, Bénédicte, Vaillant, Emmanuel, Philippe, Julien, Thomas, Jérémy, Ghulam, Amjad, Franc, Sylvia, Charpentier, Guillaume, Borys, Jean-Michel, Lévy-Marchal, Claire, Tauber, Maïthé, Scharfmann, Raphaël, Weill, Jacques, Aubert, Cécile, Kerr-Conte, Julie, Pattou, François, Roussel, Ronan, Balkau, Beverley, Marre, Michel, Boissel, Mathilde, Derhourhi, Mehdi, Gaget, Stefan, Canouil, Mickaël, Froguel, Philippe, Bonnefond, Amélie
Published in Nature Medicine (01.11.2019)
Published in Nature Medicine (01.11.2019)
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Journal Article
Magazine Article
Pathogenic, Total Loss-of-Function DYRK1B Variants Cause Monogenic Obesity Associated With Type 2 Diabetes
Folon, Lise, Baron, Morgane, Scherrer, Victoria, Toussaint, Bénédicte, Vaillant, Emmanuel, Loiselle, Hélène, Dechaume, Aurélie, De Pooter, Frédérique, Boutry, Raphaël, Boissel, Mathilde, Diallo, Aboubacar, Ning, Lijiao, Balkau, Beverley, Charpentier, Guillaume, Franc, Sylvia, Marre, Michel, Derhourhi, Mehdi, Froguel, Philippe, Bonnefond, Amélie
Published in Diabetes care (01.03.2024)
Published in Diabetes care (01.03.2024)
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Journal Article
Pathogenic monoallelic variants in GLIS3 increase type 2 diabetes risk and identify a subgroup of patients sensitive to sulfonylureas
Meulebrouck, Sarah, Scherrer, Victoria, Boutry, Raphaël, Toussaint, Bénédicte, Vaillant, Emmanuel, Dechaume, Aurélie, Loiselle, Hélène, Balkau, Beverley, Charpentier, Guillaume, Franc, Sylvia, Marre, Michel, Baron, Morgane, Vaxillaire, Martine, Derhourhi, Mehdi, Boissel, Mathilde, Froguel, Philippe, Bonnefond, Amélie
Published in Diabetologia (01.02.2024)
Published in Diabetologia (01.02.2024)
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Journal Article
PNLIPRP1 Hypermethylation in Exocrine Pancreas Links Type 2 Diabetes and Cholesterol Metabolism
Maurin, Lucas, Marselli, Lorella, Boissel, Mathilde, Ning, Lijiao, Boutry, Raphael, Fernandes, Justine, Suleiman, Mara, De Luca, Carmela, Leloire, Audrey, Pascat, Vincent, Toussaint, Bénédicte, Amanzougarene, Souhila, Derhourhi, Mehdi, Jörns, Anne, Lenzen, Sigurd, Pattou, François, Kerr-Conte, Julie, Canouil, Mickaël, Marchetti, Piero, Bonnefond, Amélie, Froguel, Philippe, Khamis, Amna
Published in Diabetes (New York, N.Y.) (01.11.2024)
Published in Diabetes (New York, N.Y.) (01.11.2024)
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Journal Article
Pathogenic monoallelic variants in GLIS3 increase type 2 diabetes risk and identify a subgroup of patients sensitive to sulfonylureas
Meulebrouck, Sarah, Scherrer, Victoria, Boutry, Raphaël, Toussaint, Bénédicte, Vaillant, Emmanuel, Dechaume, Aurélie, Loiselle, Hélène, Balkau, Beverley, Charpentier, Guillaume, Franc, Sylvia, Marre, Michel, Baron, Morgane, Vaxillaire, Martine, Derhourhi, Mehdi, Boissel, Mathilde, Froguel, Philippe, Bonnefond, Amélie
Published in Diabetologia (01.02.2024)
Published in Diabetologia (01.02.2024)
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Journal Article
Rare Variant Analysis of Obesity-Associated Genes in Young Adults With Severe Obesity From a Consanguineous Population of Pakistan
Saeed, Sadia, Janjua, Qasim M., Haseeb, Attiya, Khanam, Roohia, Durand, Emmanuelle, Vaillant, Emmanuel, Ning, Lijiao, Badreddine, Alaa, Berberian, Lionel, Boissel, Mathilde, Amanzougarene, Souhila, Canouil, Mickaël, Derhourhi, Mehdi, Bonnefond, Amélie, Arslan, Muhammad, Froguel, Philippe
Published in Diabetes (New York, N.Y.) (01.04.2022)
Published in Diabetes (New York, N.Y.) (01.04.2022)
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Journal Article
Biallelic Mutations in P4HTM Cause Syndromic Obesity
Saeed, Sadia, Ning, Lijiao, Badreddine, Alaa, Mirza, Muhammad Usman, Boissel, Mathilde, Khanam, Roohia, Manzoor, Jaida, Janjua, Qasim M., Khan, Waqas I., Toussaint, Bénédicte, Vaillant, Emmanuel, Amanzougarene, Souhila, Derhourhi, Mehdi, Trant, John F., Siegert, Anna-Maria, Lam, Brian Y.H., Yeo, Giles S.H., Chabraoui, Layachi, Touzani, Asmae, Kulkarni, Abhishek, Farooqi, I. Sadaf, Bonnefond, Amélie, Arslan, Muhammad, Froguel, Philippe
Published in Diabetes (New York, N.Y.) (01.09.2023)
Published in Diabetes (New York, N.Y.) (01.09.2023)
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Journal Article
Contribution of heterozygous PCSK1 variants to obesity and implications for precision medicine: a case-control study
Folon, Lise, Baron, Morgane, Toussaint, Bénédicte, Vaillant, Emmanuel, Boissel, Mathilde, Scherrer, Victoria, Loiselle, Hélène, Leloire, Audrey, Badreddine, Alaa, Balkau, Beverley, Charpentier, Guillaume, Franc, Sylvia, Marre, Michel, Aboulouard, Soulaimane, Salzet, Michel, Canouil, Mickaël, Derhourhi, Mehdi, Froguel, Philippe, Bonnefond, Amélie
Published in The lancet. Diabetes & endocrinology (01.03.2023)
Published in The lancet. Diabetes & endocrinology (01.03.2023)
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Journal Article
Heterozygous pathogenic variants in POMC are not responsible for monogenic obesity: Implication for MC4R agonist use
Le Collen, Lauriane, Delemer, Brigitte, Poitou, Christine, Vaxillaire, Martine, Toussaint, Bénédicte, Dechaume, Aurélie, Badreddine, Alaa, Boissel, Mathilde, Derhourhi, Mehdi, Clément, Karine, Petit, Jean M., Mau-Them, Frédéric Tran, Bruel, Ange-Line, Thauvin-Robinet, Christel, Saveanu, Alexandru, Cherifi, Blandine Gatta, Le Beyec-Le Bihan, Johanne, Froguel, Philippe, Bonnefond, Amélie
Published in Genetics in medicine (01.07.2023)
Published in Genetics in medicine (01.07.2023)
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Journal Article
Time-course of tophus resolution on Dual-energy CT and ultrasound after 24months of a treat-to-target strategy: Results from GOUT-DECTUS study
Pascart, Tristan, Richette, Pascal, Bousson, Valérie, Ottaviani, Sébastien, Ea, Hang-Korng, Lioté, Frédéric, Latourte, Augustin, Bardin, Thomas, Ora, Jérémy, Pacaud, Aurore, Vandecandelaere, Marie, Luraschi, Hélène, Jauffret, Charlotte, Laurent, Victor, Boissel, Mathilde, Norberciak, Laurène, Legrand, Julie, Lefevre, Guillaume, Ducoulombier, Vincent, Budzik, Jean-François
Published in Joint, bone, spine : revue du rhumatisme (01.07.2025)
Published in Joint, bone, spine : revue du rhumatisme (01.07.2025)
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Journal Article
Time-course of tophus resolution on Dual-energy CT and ultrasound after 24 months of a treat-to-target strategy: Results from GOUT-DECTUS study
Pascart, Tristan, Richette, Pascal, Bousson, Valérie, Ottaviani, Sébastien, Ea, Hang-Korng, Lioté, Frédéric, Latourte, Augustin, Bardin, Thomas, Ora, Jérémy, Pacaud, Aurore, Vandecandelaere, Marie, Luraschi, Hélène, Jauffret, Charlotte, Laurent, Victor, Boissel, Mathilde, Norberciak, Laurène, Legrand, Julie, Lefevre, Guillaume, Ducoulombier, Vincent, Budzik, Jean-François
Published in Joint, bone, spine : revue du rhumatisme (01.07.2025)
Published in Joint, bone, spine : revue du rhumatisme (01.07.2025)
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Journal Article
Functional genetics reveals the contribution of delta opioid receptor to type 2 diabetes and beta-cell function
Meulebrouck, Sarah, Merrheim, Judith, Queniat, Gurvan, Bourouh, Cyril, Derhourhi, Mehdi, Boissel, Mathilde, Yi, Xiaoyan, Badreddine, Alaa, Boutry, Raphaël, Leloire, Audrey, Toussaint, Bénédicte, Amanzougarene, Souhila, Vaillant, Emmanuel, Durand, Emmanuelle, Loiselle, Hélène, Huyvaert, Marlène, Dechaume, Aurélie, Scherrer, Victoria, Marchetti, Piero, Balkau, Beverley, Charpentier, Guillaume, Franc, Sylvia, Marre, Michel, Roussel, Ronan, Scharfmann, Raphaël, Cnop, Miriam, Canouil, Mickaël, Baron, Morgane, Froguel, Philippe, Bonnefond, Amélie
Published in Nature communications (05.08.2024)
Published in Nature communications (05.08.2024)
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Journal Article
Human GLP1R variants affecting GLP1R cell surface expression are associated with impaired glucose control and increased adiposity
Gao, Wenwen, Liu, Lei, Huh, Eunna, Gbahou, Florence, Cecon, Erika, Oshima, Masaya, Houzé, Ludivine, Katsonis, Panagiotis, Hegron, Alan, Fan, Zhiran, Hou, Guofei, Charpentier, Guillaume, Boissel, Mathilde, Derhourhi, Mehdi, Marre, Michel, Balkau, Beverley, Froguel, Philippe, Scharfmann, Raphael, Lichtarge, Olivier, Dam, Julie, Bonnefond, Amélie, Liu, Jianfeng, Jockers, Ralf
Published in Nature metabolism (01.10.2023)
Published in Nature metabolism (01.10.2023)
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Journal Article
Monogenic diabetes characteristics in a transnational multicenter study from Mediterranean countries
Vaxillaire, Martine, Bonnefond, Amélie, Liatis, Stavros, Ben Salem Hachmi, Leila, Jotic, Aleksandra, Boissel, Mathilde, Gaget, Stefan, Durand, Emmanuelle, Vaillant, Emmanuel, Derhourhi, Mehdi, Canouil, Mickaël, Larcher, Nicolas, Allegaert, Frédéric, Medlej, Rita, Chadli, Asma, Belhadj, Azzedine, Chaieb, Molka, Raposo, Joao-Felipe, Ilkova, Hasan, Loizou, Doros, Lalic, Nebojsa, Vassallo, Josanne, Marre, Michel, Froguel, Philippe
Published in Diabetes research and clinical practice (01.01.2021)
Published in Diabetes research and clinical practice (01.01.2021)
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Journal Article
Pathogenic variants in actionable MODY genes are associated with type 2 diabetes
Bonnefond, Amélie, Boissel, Mathilde, Bolze, Alexandre, Durand, Emmanuelle, Toussaint, Bénédicte, Vaillant, Emmanuel, Gaget, Stefan, Graeve, Franck De, Dechaume, Aurélie, Allegaert, Frédéric, Guilcher, David Le, Yengo, Loïc, Dhennin, Véronique, Borys, Jean-Michel, Lu, James T, Cirulli, Elizabeth T, Elhanan, Gai, Roussel, Ronan, Balkau, Beverley, Marre, Michel, Franc, Sylvia, Charpentier, Guillaume, Vaxillaire, Martine, Canouil, Mickaël, Washington, Nicole L, Grzymski, Joseph J, Froguel, Philippe
Published in Nature metabolism (01.10.2020)
Published in Nature metabolism (01.10.2020)
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Journal Article
General regression model: A “model‐free” association test for quantitative traits allowing to test for the underlying genetic model
Gloaguen, Emilie, Dizier, Marie‐hélène, Boissel, Mathilde, Rocheleau, Ghislain, Canouil, Mickaël, Froguel, Philippe, Tichet, Jean, Roussel, Ronan, Julier, Cécile, Balkau, Beverley, Mathieu, Flavie
Published in Annals of human genetics (13.12.2019)
Published in Annals of human genetics (13.12.2019)
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Journal Article