1. A novel NEUROG3 mutation in neonatal diabetes associated with a neuro‐intestinal syndrome. Issue 3 (22nd September 2017) Authors: Hancili, Suna; Bonnefond, Amélie; Philippe, Julien; Vaillant, Emmanuel; De Graeve, Franck; Sand, Olivier; Busiah, Kanetee; Robert, Jean‐Jacques; Polak, Michel; Froguel, Philippe; Güven, Ayla; Vaxillaire, Martine Journal: Pediatric diabetes Issue: Volume 19:Issue 3(2018) Page Start: 381 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Contribution of heterozygous PCSK1 variants to obesity and implications for precision medicine: a case-control study. Issue 3 (March 2023) Authors: 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; Derh... Journal: Lancet Issue: Volume 11:Issue 3(2023) Page Start: 182 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Contribution of the low-frequency, loss-of-function p.R270H mutation in FFAR4 (GPR120) to increased fasting plasma glucose levels. Issue 9 (29th May 2015) Authors: Bonnefond, Amélie; Lamri, Amel; Leloire, Audrey; Vaillant, Emmanuel; Roussel, Ronan; Lévy-Marchal, Claire; Weill, Jacques; Galan, Pilar; Hercberg, Serge; Ragot, Stéphanie; Hadjadj, Samy; Charpentier, Guillaume; Balkau, Beverley; Marre, Michel; Fumeron, Frédéric; Froguel, Philippe Journal: Journal of medical genetics Issue: Volume 52:Issue 9(2015) Page Start: 595 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Dominant negative mutation in oxalate transporter SLC26A6 associated with enteric hyperoxaluria and nephrolithiasis. Issue 11 (3rd February 2022) Authors: Cornière, Nicolas; Thomson, R Brent; Thauvin, Stéphanie; Villoutreix, Bruno O; Karp, Sophie; Dynia, Diane W; Burlein, Sarah; Brinkmann, Lennart; Badreddine, Alaa; Dechaume, Aurélie; Derhourhi, Mehdi; Durand, Emmanuelle; Vaillant, Emmanuel; Froguel, Philippe; Chambrey, Régine; Aronson, Peter S; Bo... Journal: Journal of medical genetics Issue: Volume 59:Issue 11(2022) Page Start: 1035 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Loss-of-function mutations in ADCY3 cause monogenic severe obesity. (February 2018) Authors: Saeed, Sadia; Bonnefond, Amélie; Tamanini, Filippo; Mirza, Muhammad; Manzoor, Jaida; Janjua, Qasim; Din, Sadia; Gaitan, Julien; Milochau, Alexandra; Durand, Emmanuelle; Vaillant, Emmanuel; Haseeb, Attiya; De Graeve, Franck; Rabearivelo, Iandry; Sand, Olivier; Queniat, Gurvan; Boutry, Raphaël; Sch... Journal: Nature genetics Issue: Volume 50:Number 2(2018) Page Start: 175 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Monogenic diabetes characteristics in a transnational multicenter study from Mediterranean countries. (January 2021) Authors: 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; ... Journal: Diabetes research and clinical practice Issue: Volume 171(2021) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. The unique clinical spectrum of maturity onset diabetes of the young type 3. (January 2018) Authors: Lebenthal, Yael; Fisch Shvalb, Naama; Gozlan, Yael; Tenenbaum, Ariel; Tenenbaum-Rakover, Yardena; Vaillant, Emmanuel; Froguel, Phillipe; Vaxillaire, Martine; Gat-Yablonski, Galia Journal: Diabetes research and clinical practice Issue: Volume 135(2018) Page Start: 18 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗