1. A girl with incomplete Prader–Willi syndrome and negative MS‐PCR, found to have mosaic maternal UPD‐15 at SNP array. (24th June 2015) Authors: Morandi, Anita; Bonnefond, Amélie; Lobbens, Stéphane; Carotenuto, Marco; del Giudice, Emanuele Miraglia; Froguel, Philippe; Maffeis, Claudio Journal: American journal of medical genetics Issue: Volume 167:Number 11(2015:Nov.) Page Start: 2720 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. 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) ↗
3. A trans-ancestral meta-analysis of genome-wide association studies reveals loci associated with childhood obesity. (7th June 2019) Authors: Bradfield, Jonathan P; Vogelezang, Suzanne; Felix, Janine F; Chesi, Alessandra; Helgeland, Øyvind; Horikoshi, Momoko; Karhunen, Ville; Lowry, Estelle; Cousminer, Diana L; Ahluwalia, Tarunveer S; Thiering, Elisabeth; Boh, Eileen Tai-Hui; Zafarmand, Mohammad H; Vilor-Tejedor, Natalia; Wang, Carol A... Journal: Human molecular genetics Issue: Volume 28:Number 19(2019) Page Start: 3327 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. 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) ↗
5. 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) ↗
6. Copy Number Variations in Candidate Genes and Intergenic Regions Affect Body Mass Index and Abdominal Obesity in Mexican Children. (27th March 2017) Authors: Antúnez-Ortiz, Diana Lizzete; Flores-Alfaro, Eugenia; Burguete-García, Ana Isabel; Bonnefond, Amélie; Peralta-Romero, Jesús; Froguel, Philippe; Espinoza-Rojo, Mónica; Cruz, Miguel Other Names: Elsea Sarah H. Academic Editor. Journal: BioMed research international Issue: Volume 2017(2017) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Does Type 2 diabetes increase the risk of developing cancer?. (November 2013) Authors: Froguel, Philippe; Bonnefond, Amélie Journal: Diabetes management Issue: Volume 3:Number 6(2013) Page Start: 439 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. 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) ↗
9. Genetic variants in LEP, LEPR, and MC4R explain 30% of severe obesity in children from a consanguineous population. (14th July 2015) Authors: Saeed, Sadia; Bonnefond, Amélie; Manzoor, Jaida; Shabir, Faiza; Ayesha, Hina; Philippe, Julien; Durand, Emmanuelle; Crouch, Hutokshi; Sand, Olivier; Ali, Muhammad; Butt, Taeed; Rathore, Ahsan W.; Falchi, Mario; Arslan, Muhammad; Froguel, Philippe Journal: Obesity Issue: Volume 23:Number 8(2015:Aug.) Page Start: 1687 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Genetic variants in LEP, LEPR, and MC4R explain 30% of severe obesity in children from a consanguineous population. (14th July 2015) Authors: Saeed, Sadia; Bonnefond, Amélie; Manzoor, Jaida; Shabir, Faiza; Ayesha, Hina; Philippe, Julien; Durand, Emmanuelle; Crouch, Hutokshi; Sand, Olivier; Ali, Muhammad; Butt, Taeed; Rathore, Ahsan W.; Falchi, Mario; Arslan, Muhammad; Froguel, Philippe Journal: Obesity Issue: Volume 23:Number 8(2015:Aug.) Page Start: 1687 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗