1. 16p13.11 microduplication in 45 new patients: refined clinical significance and genotype–phenotype correlations. Issue 5 (4th October 2018) Authors: Allach El Khattabi, Laïla; Heide, Solveig; Caberg, Jean-Hubert; Andrieux, Joris; Doco Fenzy, Martine; Vincent-Delorme, Caroline; Callier, Patrick; Chantot-Bastaraud, Sandra; Afenjar, Alexandra; Boute-Benejean, Odile; Cordier, Marie Pierre; Faivre, Laurence; Francannet, Christine; Gerard, Marion; ... Journal: Journal of medical genetics Issue: Volume 57:Issue 5(2020) Page Start: 301 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. 3q27.3 microdeletional syndrome: a recognisable clinical entity associating dysmorphic features, marfanoid habitus, intellectual disability and psychosis with mood disorder. Issue 1 (16th October 2013) Authors: Thevenon, Julien; Callier, Patrick; Poquet, Hélène; Bache, Iben; Menten, Bjorn; Malan, Valérie; Cavaliere, Maria Luigia; Girod, Jean-Paul; Thauvin-Robinet, Christel; El Chehadeh, Salima; Pinoit, Jean-Michel; Huet, Frederic; Verges, Bruno; Petit, Jean-Michel; Mosca-Boidron, Anne-Laure; Marle, Nath... Journal: Journal of medical genetics Issue: Volume 51:Issue 1(2014) Page Start: 21 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. A bi‐allelic loss‐of‐function SARS1 variant in children with neurodevelopmental delay, deafness, cardiomyopathy, and decompensation during fever. Issue 12 (4th October 2021) Authors: Ravel, Jean‐Marie; Dreumont, Natacha; Mosca, Pauline; Smith, Desiree E. C.; Mendes, Marisa I.; Wiedemann, Arnaud; Coelho, David; Schmitt, Emmanuelle; Rivière, Jean‐Baptiste; Tran Mau‐Them, Frédéric; Thevenon, Julien; Kuentz, Paul; Polivka, Marc; Fuchs, Sabine A.; Kok, Gautam; Thauvin‐Robinet, Chr... Journal: Human mutation Issue: Volume 42:Issue 12(2021) Page Start: 1576 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. A constitutive BCL2 down-regulation aggravates the phenotype of PKD1-mutant-induced polycystic kidney disease. (11th September 2017) Authors: Duplomb, Laurence; Droin, Nathalie; Bouchot, Olivier; Thauvin-Robinet, Christel; Bruel, Ange-Line; Thevenon, Julien; Callier, Patrick; Meurice, Guillaume; Pata-Merci, Noémie; Loffroy, Romaric; Vandroux, David; Costa, Romain D A; Carmignac, Virginie; Solary, Eric; Faivre, Laurence Journal: Human molecular genetics Issue: Volume 26:Number 23(2017:Dec. 01) Page Start: 4680 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. A new family with an SLC9A6 mutation expanding the phenotypic spectrum of Christianson syndrome. Issue 8 (3rd June 2016) Authors: Masurel‐Paulet, Alice; Piton, Amélie; Chancenotte, Sophie; Redin, Claire; Thauvin‐Robinet, Christel; Henrenger, Yvan; Minot, Delphine; Creppy, Audrey; Ruffier‐Bourdet, Marie; Thevenon, Julien; Kuentz, Paul; Lehalle, Daphné; Curie, Aurore; Blanchard, Gaelle; Ghosn, Ezzat; Bonnet, Marlene; Archimba... Journal: American journal of medical genetics Issue: Volume 170:Issue 8(2016) Page Start: 2103 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. A new lethal syndrome of exomphalos, short limbs, and macrogonadism. Issue 2 (1st February 1999) Authors: Faivre, Laurence; Delezoide, Anne-Lise; Narcy, Françoise; Razavi, Féréchté; Bouvier, Raymonde; Cormier-Daire, Valérie; Briard, Marie-Louise; Lyonnet, Stanislas; Vekemans, Michel; Munnich, Arnold; Le Merrer, Martine Journal: Journal of medical genetics Issue: Volume 36:Issue 2(1999) Page Start: 131 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. A standard of care for individuals with PIK3CA‐related disorders: An international expert consensus statement. Issue 1 (16th July 2021) Authors: Douzgou, Sofia; Rawson, Myfanwy; Baselga, Eulalia; Danielpour, Moise; Faivre, Laurence; Kashanian, Alon; Keppler‐Noreuil, Kim M.; Kuentz, Paul; Mancini, Grazia M. S.; Maniere, Marie‐Cecile; Martinez‐Glez, Victor; Parker, Victoria E.; Semple, Robert K.; Srivastava, Siddharth; Vabres, Pierre; De Wi... Journal: Clinical genetics Issue: Volume 101:Issue 1(2022) Page Start: 32 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Activating Mutations Affecting the Dbl Homology Domain of SOS2 Cause Noonan Syndrome. Issue 11 (3rd August 2015) Authors: Cordeddu, Viviana; Yin, Jiani C.; Gunnarsson, Cecilia; Virtanen, Carl; Drunat, Séverine; Lepri, Francesca; De Luca, Alessandro; Rossi, Cesare; Ciolfi, Andrea; Pugh, Trevor J.; Bruselles, Alessandro; Priest, James R.; Pennacchio, Len A.; Lu, Zhibin; Danesh, Arnavaz; Quevedo, Rene; Hamid, Alaa; Mar... Journal: Human mutation Issue: Volume 36:Issue 11(2015:Nov.) Page Start: 1080 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Additional evidence to support the role of the 20q13.33 region in susceptibility to autism. Issue 6 (23rd April 2013) Authors: Mosca‐Boidron, Anne‐Laure; Valduga, Mylène; Thauvin‐Robinet, Christel; Lagarde, Nathalie; Marle, Nathalie; Henry, Céline; Pinoit, Jean‐Michel; Huet, Frédéric; Béri‐Deixheimer, Mylène; Ragon, Clémence; Gueneau, Lucie; Payet, Muriel; Callier, Patrick; Mugneret, Francine; Jonveaux, Philippe; Faivre,... Journal: American journal of medical genetics Issue: Volume 161:Issue 6(2013:Jun.) Page Start: 1505 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Altered chemotactic response to CXCL12 in patients carrying GATA2 mutations. Issue 6 (28th December 2015) Authors: Maciejewski‐Duval, Anna; Meuris, Floriane; Bignon, Alexandre; Aknin, Marie‐Laure; Balabanian, Karl; Faivre, Laurence; Pasquet, Marlène; Barlogis, Vincent; Fieschi, Claire; Bellanné‐Chantelot, Christine; Donadieu, Jean; Schlecht‐Louf, Géraldine; Marin‐Esteban, Viviana; Bachelerie, Francoise Journal: Journal of leukocyte biology Issue: Volume 99:Issue 6(2016) Page Start: 1065 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗