1. A series of 38 novel germline and somatic mutations of NIPBL in Cornelia de Lange syndrome. Issue 5 (3rd February 2016) Authors: Nizon, M.; Henry, M.; Michot, C.; Baumann, C.; Bazin, A.; Bessières, B.; Blesson, S.; Cordier‐Alex, M.‐P.; David, A.; Delahaye‐Duriez, A.; Delezoïde, A.‐L.; Dieux‐Coeslier, A.; Doco‐Fenzy, M.; Faivre, L.; Goldenberg, A.; Layet, V.; Loget, P.; Marlin, S.; Martinovic, J.; Odent, S. Journal: Clinical genetics Issue: Volume 89:Issue 5(2016) Page Start: 584 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. 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) ↗
3. Complex mode of inheritance in holoprosencephaly revealed by whole exome sequencing. Issue 6 (16th February 2016) Authors: Mouden, C.; Dubourg, C.; Carré, W.; Rose, S.; Quelin, C.; Akloul, L.; Hamdi‐Rozé, H.; Viot, G.; Salhi, H.; Darnault, P.; Odent, S.; Dupé, V.; David, V. Journal: Clinical genetics Issue: Volume 89:Issue 6(2016) Page Start: 659 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Deep intronic KRIT1 mutation in a family with clinically silent multiple cerebral cavernous malformations. (20th December 2013) Authors: Riant, F.; Odent, S.; Cecillon, M.; Pasquier, L.; de Baracé, C.; Carney, M.P.; Tournier‐Lasserve, E. Journal: Clinical genetics Issue: Volume 86:Number 6(2014:Dec.) Page Start: 585 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Fetal phenotypes in otopalatodigital spectrum disorders. Issue 3 (29th October 2015) Authors: Naudion, S.; Moutton, S.; Coupry, I.; Sole, G.; Deforges, J.; Guerineau, E.; Hubert, C.; Deves, S.; Pilliod, J.; Rooryck, C.; Abel, C.; Le Breton, F.; Collardeau‐Frachon, S.; Cordier, M.P.; Delezoide, A.L.; Goldenberg, A.; Loget, P.; Melki, J.; Odent, S.; Patrier, S. Journal: Clinical genetics Issue: Volume 89:Issue 3(2016) Page Start: 371 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. 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) ↗
7. Molecular findings and clinical data in a cohort of 150 patients with anophthalmia/microphthalmia. (7th October 2013) Authors: Chassaing, N.; Causse, A.; Vigouroux, A.; Delahaye, A.; Alessandri, J.‐L.; Boespflug‐Tanguy, O.; Boute‐Benejean, O.; Dollfus, H.; Duban‐Bedu, B.; Gilbert‐Dussardier, B.; Giuliano, F.; Gonzales, M.; Holder‐Espinasse, M.; Isidor, B.; Jacquemont, M.‐L.; Lacombe, D.; Martin‐Coignard, D.; Mathieu‐Dram... Journal: Clinical genetics Issue: Volume 86:Number 4(2014:Oct.) Page Start: 326 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Molecular, clinical and neuropsychological study in 31 patients with Kabuki syndrome and KMT2D mutations. Issue 3 (18th May 2017) Authors: Lehman, N.; Mazery, A.C.; Visier, A.; Baumann, C.; Lachesnais, D.; Capri, Y.; Toutain, A.; Odent, S.; Mikaty, M.; Goizet, C.; Taupiac, E.; Jacquemont, M.L.; Sanchez, E.; Schaefer, E.; Gatinois, V.; Faivre, L.; Minot, D.; Kayirangwa, H.; Sang, K.‐H.L.Q.; Boddaert, N. Journal: Clinical genetics Issue: Volume 92:Issue 3(2017) Page Start: 298 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Posterior amorphous corneal dystrophy caused by a de novo deletion. (4th March 2017) Authors: Odent, S.; Casteels, I.; Cassiman, C.; Dieltiëns, M.; Hua, M.-T.; Devriendt, K. Journal: Ophthalmic genetics Issue: Volume 38:Number 2(2017) Page Start: 167 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Unexpected diagnosis of a SHH nonsense variant causing a variable phenotype ranging from familial coloboma and Intellectual disability to isolated microcephaly. Issue 1 (2nd March 2018) Authors: Bruel, A.‐L.; Thevenon, J.; Huet, F.; Jean‐Marcais, N.; Odent, S.; Dubourg, C.; Lehalle, D.; Tran Mau‐Them, F.; Philippe, C.; Moutton, S.; Houcinat, N.; Gay, S.; Guibaud, L.; Duffourd, Y.; Rivière, J.‐B.; Faivre, L.; Thauvin‐Robinet, C. Journal: Clinical genetics Issue: Volume 94:Issue 1(2018) Page Start: 182 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗