1. Extending the ALDH18A1 clinical spectrum to severe autosomal recessive fetal cutis laxa with corpus callosum agenesis. Issue 11 (23rd September 2018) Authors: Lefebvre, Mathilde; Beaufrere, Anne‐Marie; Francannet, Christine; Laurichesse, Helene; Poe, Charlotte; Jouan, Thibaud; Troude, Baptiste; Dechelotte, Pierre; Vabres, Pierre; Biard, Marie; Mosca‐Boidron, Anne‐Laure; Duffourd, Yannis; Faivre, Laurence; Thevenon, Julien; Thauvin‐Robinet, Christel Journal: American journal of medical genetics Issue: Volume 176:Issue 11(2018) Page Start: 2509 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Prenatal presentation of Aicardi‐Goutières syndrome: Nonspecific phenotype necessitates exome sequencing for definitive diagnosis. (20th February 2019) Authors: Bourgon, Nicolas; Lefebvre, Mathilde; Kuentz, Paul; Thevenon, Julien; Jouan, Thibaud; Duffourd, Yannis; Philippe, Christophe; Tran Mau‐Them, Frédéric; Durand, Christine; Harizay, Faratanjona; Laurent, Nicole; Rousseau, Thierry; Faivre, Laurence; Thauvin‐Robinet, Christel Journal: Prenatal diagnosis Issue: Volume 39:Number 9(2019) Page Start: 806 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Transplantation Outcome in Recipients Engrafted With Organs Recovered From the First French Deceased Donor With a SARS-COV-2 Vaccine-induced Thrombotic Thrombocytopenia. Issue 8 (9th June 2021) Authors: Jamme, Matthieu; Elalamy, Ismail; d'Izarny Gargas, Thibaut; Pettenati, Caroline; Desire, Eva; Tissot, Adrien; Rabant, Marion; Lefebvre, Mathilde; Soorojebally, Yanish; Vourc'h, Mickael; Conti, Filomena; Ferlicot, Sophie; Delahousse, Michel; Sartorius-Brodin, Albane; Hertig, Alexandre Journal: Transplantation Issue: Volume 105:Issue 8(2021) Page Start: e84 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. CCR5 Blockade in Inflammatory PML and PML-IRIS Associated With Chronic Inflammatory Diseases' Treatments. Issue 1 (2nd January 2022) Authors: Bernard-Valnet, Raphael; Moisset, Xavier; Maubeuge, Nicolas; Lefebvre, Mathilde; Ouallet, Jean-Christophe; Roumier, Mathilde; Lebrun-Frenay, Christine; Ciron, Jonathan; Biotti, Damien; Clavelou, Pierre; Godeau, Bertrand; Du Pasquier, Renaud A.; Martin-Blondel, Guillaume Journal: Neurology Issue: Volume 9:Issue 1(2022) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Targeted next‐generation sequencing in a large series of fetuses with severe renal diseases. Issue 3 (10th January 2022) Authors: Jordan, Penelope; Dorval, Guillaume; Arrondel, Christelle; Morinière, Vincent; Tournant, Carole; Audrezet, Marie‐Pierre; Michel‐Calemard, Laurence; Putoux, Audrey; Lesca, Gaethan; Labalme, Audrey; Whalen, Sandra; Loeuillet, Laurence; Martinovic, Jelena; Attie‐Bitach, Tania; Bessières, Bettina; Sc... Journal: Human mutation Issue: Volume 43:Issue 3(2022) Page Start: 347 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Further delineation of the MECP2 duplication syndrome phenotype in 59 French male patients, with a particular focus on morphological and neurological features. Issue 6 (4th April 2018) Authors: Miguet, Marguerite; Faivre, Laurence; Amiel, Jeanne; Nizon, Mathilde; Touraine, Renaud; Prieur, Fabienne; Pasquier, Laurent; Lefebvre, Mathilde; Thevenon, Julien; Dubourg, Christèle; Julia, Sophie; Sarret, Catherine; Remerand, Ganaëlle; Francannet, Christine; Laffargue, Fanny; Boespflug-Tanguy, O... Journal: Journal of medical genetics Issue: Volume 55:Issue 6(2018) Page Start: 359 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. A comprehensive approach to determining BER capacities and their change with aging in Drosophila melanogaster mitochondria by oligonucleotide microarray. Issue 9 (15th March 2014) Authors: Garreau-Balandier, Isabelle; Lefebvre, Mathilde; Jacquard, Sophie; Caillat, Sylvain; Cruz-Rodriguez, Luis; Ishak, Layal; Agier, Virginie; Morel, Frédéric; Lachaume, Philippe; Dubessay, Pascal; Sauvaigo, Sylvie; Alziari, Serge; Vernet, Patrick Journal: FEBS letters Issue: Volume 588:Issue 9(2014) Page Start: 1673 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Genotype-first in a cohort of 95 fetuses with multiple congenital abnormalities: when exome sequencing reveals unexpected fetal phenotype-genotype correlations. Issue 6 (30th July 2020) Authors: Lefebvre, Mathilde; Bruel, Ange-Line; Tisserant, Emilie; Bourgon, Nicolas; Duffourd, Yannis; Collardeau-Frachon, Sophie; Attie-Bitach, Tania; Kuentz, Paul; assoum, Mirna; Schaefer, Elise; El Chehadeh, Salima; Antal, Maria Cristina; Kremer, Valérie; Girard-Lemaitre, Françoise; Mandel, Jean-Louis; ... Journal: Journal of medical genetics Issue: Volume 58:Issue 6(2021) Page Start: 400 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Large national series of patients with Xq28 duplication involving MECP2: Delineation of brain MRI abnormalities in 30 affected patients. Issue 1 (30th September 2015) Authors: El Chehadeh, Salima; Faivre, Laurence; Mosca‐Boidron, Anne‐Laure; Malan, Valérie; Amiel, Jeanne; Nizon, Mathilde; Touraine, Renaud; Prieur, Fabienne; Pasquier, Laurent; Callier, Patrick; Lefebvre, Mathilde; Marle, Nathalie; Dubourg, Christèle; Julia, Sophie; Sarret, Catherine; Francannet, Christi... Journal: American journal of medical genetics Issue: Volume 170:Issue 1(2016) Page Start: 116 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Mutations in the ERCC2 (XPD) gene associated with severe fetal ichthyosis and dysmorphic features. (2nd December 2016) Authors: Miguet, Marguerite; Thevenon, Julien; Laugel, Vincent; Lefebvre, Mathilde; Bourchany, Aurélie; Rivière, Jean‐Baptiste; Duffourd, Yannis; Schaefer, Elise; Antal, Maria Cristina; Abida, Rosalie; Weingertner, Anne‐Sophie; Kremer, Valérie; Vabres, Pierre; Morice‐Picard, Fanny; Gonzales, Marie; Lipske... Journal: Prenatal diagnosis Issue: Volume 36:Number 13(2016) Page Start: 1276 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗