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 mutations in THOC6 cause intellectual disability: syndrome delineation requiring forward and reverse phenotyping. Issue 1 (24th May 2016) Authors: Amos, J.S.; Huang, L.; Thevenon, J.; Kariminedjad, A.; Beaulieu, C.L.; Masurel‐Paulet, A.; Najmabadi, H.; Fattahi, Z.; Beheshtian, M.; Tonekaboni, S.H.; Tang, S.; Helbig, K.L.; Alcaraz, W.; Rivière, J.‐B.; Faivre, L.; Innes, A.M.; Lebel, R.R.; Boycott, K.M. Journal: Clinical genetics Issue: Volume 91:Issue 1(2017) Page Start: 92 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. 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) ↗
4. 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) ↗
5. 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) ↗
6. Clinical spectrum of eye malformations in four patients with Mowat–Wilson syndrome. (21st April 2015) Authors: Bourchany, A.; Giurgea, I.; Thevenon, J.; Goldenberg, A.; Morin, G.; Bremond‐Gignac, D.; Paillot, C.; Lafontaine, P. O.; Thouvenin, D.; Massy, J.; Duncombe, A.; Thauvin‐Robinet, C.; Masurel‐Paulet, A.; Chehadeh, S. El; Huet, F.; Bron, A.; Creuzot‐Garcher, C.; Lyonnet, S.; Faivre, L. Journal: American journal of medical genetics Issue: Volume 167:Number 7(2015:Jul.) Page Start: 1587 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. 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) ↗
8. 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) ↗
9. 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) ↗
10. 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) ↗