1. Autosomal recessive IFT57 hypomorphic mutation cause ciliary transport defect in unclassified oral–facial–digital syndrome with short stature and brachymesophalangia. Issue 6 (29th April 2016) Authors: Thevenon, J.; Duplomb, L.; Phadke, S.; Eguether, T.; Saunier, A.; Avila, M.; Carmignac, V.; Bruel, A.‐L.; St‐Onge, J.; Duffourd, Y.; Pazour, G.J.; Franco, B.; Attie‐Bitach, T.; Masurel‐Paulet, A.; Rivière, J.‐B.; Cormier‐Daire, V.; Philippe, C.; Faivre, L.; Thauvin‐Robinet, C. Journal: Clinical genetics Issue: Volume 90:Issue 6(2016) Page Start: 509 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. 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) ↗
3. Autosomal recessive variations of TBX6, from congenital scoliosis to spondylocostal dysostosis. Issue 6 (22nd February 2017) Authors: Lefebvre, M.; Duffourd, Y.; Jouan, T.; Poe, C.; Jean‐Marçais, N.; Verloes, A.; St‐Onge, J.; Riviere, J.‐B.; Petit, F.; Pierquin, G.; Demeer, B.; Callier, P.; Thauvin‐Robinet, C.; Faivre, L.; Thevenon, J. Journal: Clinical genetics Issue: Volume 91:Issue 6(2017) Page Start: 908 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. 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) ↗
5. Diagnostic odyssey in severe neurodevelopmental disorders: toward clinical whole‐exome sequencing as a first‐line diagnostic test. Issue 6 (26th April 2016) Authors: Thevenon, J.; Duffourd, Y.; Masurel‐Paulet, A.; Lefebvre, M.; Feillet, F.; El Chehadeh‐Djebbar, S.; St‐Onge, J.; Steinmetz, A.; Huet, F.; Chouchane, M.; Darmency‐Stamboul, V.; Callier, P.; Thauvin‐Robinet, C.; Faivre, L.; Rivière, J.B. Journal: Clinical genetics Issue: Volume 89:Issue 6(2016) Page Start: 700 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. 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) ↗
7. 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) ↗
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 NEK9 mutation, fibrous dysplasia and premature puberty in naevus comedonicus syndrome. (1st December 2021) Authors: Carmignac, V.; Salomon, G.; Severino‐Freire, M.; Duffourd, Y.; Chevarin, M.; Vabres, P.; Mazereeuw‐Hautier, J. Journal: British journal of dermatology Issue: Volume 185:Number 6(2021) Page Start: 1247 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Mosaic NEK9 mutation, fibrous dysplasia and premature puberty in naevus comedonicus syndrome. (7th September 2021) Authors: Carmignac, V.; Salomon, G.; Severino‐Freire, M.; Duffourd, Y.; Chevarin, M.; Vabres, P.; Mazereeuw‐Hautier, J. Journal: British journal of dermatology Issue: Volume 185:Number 6(2021) Page Start: 1247 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗