1. Autosomal recessive truncating MAB21L1 mutation associated with a syndromic scrotal agenesis. Issue 2 (5th June 2016) Authors: Bruel, A.‐L.; Masurel‐Paulet, A.; Rivière, J.‐B.; Duffourd, Y.; Lehalle, D.; Bensignor, C.; Huet, F.; Borgnon, J.; Roucher, F.; Kuentz, P.; Deleuze, J.‐F.; Thauvin‐Robinet, C.; Faivre, L.; Thevenon, J. Journal: Clinical genetics Issue: Volume 91:Issue 2(2017) Page Start: 333 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Cerebriform sebaceous nevus: a subtype of organoid nevus due to specific postzygotic FGFR2 mutations. (22nd May 2021) Authors: Theiler, M.; Weibel, L.; Christen‐Zaech, S.; Carmignac, V.; Sorlin, A.; Neuhaus, K.; Chevarin, M.; Thauvin‐Robinet, C.; Philippe, C.; Faivre, L.; Vabres, P.; Kuentz, P. Journal: Journal of the European Academy of Dermatology and Venereology Issue: Volume 35:Number 10(2021) Page Start: 2085 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Clinical and molecular data in cases of prenatal localized overgrowth disorder: major implication of genetic variants in PI3K‐AKT‐mTOR signaling pathway. (10th March 2022) Authors: Bourgon, N.; Carmignac, V.; Sorlin, A.; Duffourd, Y.; Philippe, C.; Thauvin‐Robinet, C.; Guibaud, L.; Faivre, L.; Vabres, P.; Kuentz, P. Other Names: Tisserand Emilie investigator.; Chevarin Martin investigator.; Delanne Julian investigator.; Jouan Thibaud investigator.; Pöe Charlotte investigator.; Abel Carine investigator.; Allory Patrick investigator.; Amram Daniel investigator.; Attie‐Bitach Tania investigator.; Aziza Jacqueline investigat... Journal: Ultrasound in obstetrics & gynecology Issue: Volume 59:Number 4(2022) Page Start: 532 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Clinical reappraisal of SHORT syndrome with PIK3R1 mutations: toward recommendation for molecular testing and management. Issue 4 (27th November 2015) Authors: Avila, M.; Dyment, D.A.; Sagen, J.V.; St‐Onge, J.; Moog, U.; Chung, B.H.Y.; Mo, S.; Mansour, S.; Albanese, A.; Garcia, S.; Martin, D.O.; Lopez, A.A.; Claudi, T.; König, R.; White, S.M.; Sawyer, S.L.; Bernstein, J.A.; Slattery, L.; Jobling, R.K.; Yoon, G. Journal: Clinical genetics Issue: Volume 89:Issue 4(2016) Page Start: 501 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Expanding the clinical spectrum of mosaic BRAF skin phenotypes. (11th June 2021) Authors: Sorlin, A.; Carmignac, V.; Amiel, J.; Boccara, O.; Fraitag, S.; Maruani, A.; Theiler, M.; Weibel, L.; Duffourd, Y.; Philippe, C.; Thauvin‐Robinet, C.; Faivre, L.; Rivière, J.‐B.; Vabres, P.; Kuentz, P. Journal: Journal of the European Academy of Dermatology and Venereology Issue: Volume 35:Number 10(2021) Page Start: e690 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Further delineation of a rare recessive encephalomyopathy linked to mutations in GFER thanks to data sharing of whole exome sequencing data. Issue 2 (1st March 2017) Authors: Nambot, S.; Gavrilov, D.; Thevenon, J.; Bruel, A.L.; Bainbridge, M.; Rio, M.; Goizet, C.; Rötig, A.; Jaeken, J.; Niu, N.; Xia, F.; Vital, A.; Houcinat, N.; Mochel, F.; Kuentz, P.; Lehalle, D.; Duffourd, Y.; Rivière, J.B.; Thauvin‐Robinet, C.; Beaudet, A.L. Journal: Clinical genetics Issue: Volume 92:Issue 2(2017) Page Start: 188 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Genetic counselling difficulties and ethical implications of incidental findings from array‐CGH: a 7‐year national survey. Issue 5 (4th January 2016) Authors: Lefebvre, M.; Sanlaville, D.; Marle, N.; Thauvin‐Robinet, C.; Gautier, E.; Chehadeh, S.E.; Mosca‐Boidron, A.‐L.; Thevenon, J.; Edery, P.; Alex‐Cordier, M.‐P.; Till, M.; Lyonnet, S.; Cormier‐Daire, V.; Amiel, J.; Philippe, A.; Romana, S.; Malan, V.; Afenjar, A.; Marlin, S.; Chantot‐Bastaraud, S. Journal: Clinical genetics Issue: Volume 89:Issue 5(2016) Page Start: 630 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Homozygous FIBP nonsense variant responsible of syndromic overgrowth, with overgrowth, macrocephaly, retinal coloboma and learning disabilities. Issue 5 (20th January 2016) Authors: Thauvin‐Robinet, C.; Duplomb‐Jego, L.; Limoge, F.; Picot, D.; Masurel, A.; Terriat, B.; Champilou, C.; Minot, D.; St‐Onge, J.; Kuentz, P.; Duffourd, Y.; Thevenon, J.; Rivière, J.‐B.; Faivre, L. Journal: Clinical genetics Issue: Volume 89:Issue 5(2016) Page Start: e1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Mosaic‐activating FGFR2 mutation in two fetuses with papillomatous pedunculated sebaceous naevus. (1st January 2017) Authors: Kuentz, P.; Fraitag, S.; Gonzales, M.; Dhombres, F.; St‐Onge, J.; Duffourd, Y.; Joyé, N.; Jouannic, J.‐M.; Picard, A.; Marle, N.; Thevenon, J.; Thauvin‐Robinet, C.; Faivre, L.; Rivière, J.‐B.; Vabres, P. Journal: British journal of dermatology Issue: Volume 176:Number 1(2017) Page Start: 204 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Mosaic‐activating FGFR2 mutation in two fetuses with papillomatous pedunculated sebaceous naevus. (2nd October 2016) Authors: Kuentz, P.; Fraitag, S.; Gonzales, M.; Dhombres, F.; St‐Onge, J.; Duffourd, Y.; Joyé, N.; Jouannic, J.‐M.; Picard, A.; Marle, N.; Thevenon, J.; Thauvin‐Robinet, C.; Faivre, L.; Rivière, J.‐B.; Vabres, P. Journal: British journal of dermatology Issue: Volume 176:Number 1(2017) Page Start: 204 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗