1. 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) ↗
2. Cardiomyopathy due to PRDM16 mutation: First description of a fetal presentation, with possible modifier genes. Issue 1 (22nd January 2020) Authors: Delplancq, Geoffroy; Tarris, Georges; Vitobello, Antonio; Nambot, Sophie; Sorlin, Arthur; Philippe, Christophe; Carmignac, Virginie; Duffourd, Yannis; Denis, Charlotte; Eicher, Jean Christophe; Chevarin, Martin; Millat, Gilles; Khallouk, Bouchra; Rousseau, Thierry; Falcon‐Eicher, Sylvie; Vasiljev... Other Names: Kruszka Paul guestEditor.; Beaton Andrea guestEditor. Journal: American journal of medical genetics Issue: Volume 184:Issue 1(2020) Page Start: 129 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Evidence of somatic mosaicism for aMECP2 mutation in females with Rett syndrome: diagnostic implications. Issue 12 (1st December 2001) Authors: Bourdon, Violaine; Philippe, Christophe; Bienvenu, Thierry; Koenig, Bernadette; Tardieu, Marc; Chelly, Jamel; Jonveaux, Philippe Journal: Journal of medical genetics Issue: Volume 38:Issue 12(2001) Page Start: 867 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Microtriplication of 11q24.1: a highly recognisable phenotype with short stature, distinctive facial features, keratoconus, overweight, and intellectual disability. Issue 9 (26th May 2011) Authors: Beneteau, Claire; Landais, Emilie; Doco-Fenzy, Martine; Gavazzi, Cyrille; Philippe, Christophe; Béri-Dexheimer, Mylène; Bonnet, Céline; Vigneron, Jacqueline; Walrafen, Pierre; Motte, Jacques; Leheup, Bruno; Jonveaux, Philippe Journal: Journal of medical genetics Issue: Volume 48:Issue 9(2011) Page Start: 635 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. WWOX-related encephalopathies: delineation of the phenotypical spectrum and emerging genotype-phenotype correlation. Issue 1 (19th November 2014) Authors: Mignot, Cyril; Lambert, Laetitia; Pasquier, Laurent; Bienvenu, Thierry; Delahaye-Duriez, Andrée; Keren, Boris; Lefranc, Jérémie; Saunier, Aline; Allou, Lila; Roth, Virginie; Valduga, Mylène; Moustaïne, Aissa; Auvin, Stéphane; Barrey, Catherine; Chantot-Bastaraud, Sandra; Lebrun, Nicolas; Moutard,... Journal: Journal of medical genetics Issue: Volume 52:Issue 1(2015) Page Start: 61 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Variants of human CLDN9 cause mild to profound hearing loss. Issue 10 (1st August 2021) Authors: Ramzan, Memoona; Philippe, Christophe; Belyantseva, Inna A.; Nakano, Yoko; Fenollar‐Ferrer, Cristina; Tona, Risa; Yousaf, Rizwan; Basheer, Rasheeda; Imtiaz, Ayesha; Faridi, Rabia; Munir, Zunaira; Idrees, Hafiza; Salman, Midhat; Nambot, Sophie; Vitobello, Antonio; Kartti, Souad; Zarrik, Oumaima; W... Journal: Human mutation Issue: Volume 42:Issue 10(2021) Page Start: 1321 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Homozygous TRAPPC11 truncating variant revealing segmental uniparental disomy of chromosome 4 as a cause of a recessive limb‐girdle muscular dystrophy‐18. Issue 5 (25th August 2021) Authors: Hadouiri, Nawale; Thomas, Quentin; Darmency, Véronique; Dulieu, Véronique; De Rougemont, Marie‐Gabrielle Mourot; Bruel, Ange‐Line; Duffourd, Yannis; Lecoquierre, François; Colomb, Benoit; Perez‐Martin, Stéphanie; Ornetti, Paul; Blanchard, Olivier; Sorlin, Arthur; Philippe, Christophe; Faivre, Lau... Journal: Clinical genetics Issue: Volume 100:Issue 5(2021) Page Start: 643 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Clinical and neuroimaging findings in 33 patients with MCAP syndrome: A survey to evaluate relevant endpoints for future clinical trials. Issue 5 (20th January 2021) Authors: Garde, Aurore; Guibaud, Laurent; Goldenberg, Alice; Petit, Florence; Dard, Rodolphe; Roume, Joelle; Mazereeuw‐Hautier, Juliette; Chassaing, Nicolas; Lacombe, Didier; Morice‐Picard, Fanny; Toutain, Annick; Arpin, Stéphanie; Boccara, Olivia; Touraine, Renaud; Blanchet, Patricia; Coubes, Christine; ... Journal: Clinical genetics Issue: Volume 99:Issue 5(2021) Page Start: 650 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Expanding the phenotype of HNRNPU‐related neurodevelopmental disorder with emphasis on seizure phenotype and review of literature. Issue 5 (9th February 2022) Authors: Taylor, James; Spiller, Michael; Ranguin, Kara; Vitobello, Antonio; Philippe, Christophe; Bruel, Ange‐Line; Cappuccio, Gerarda; Brunetti‐Pierri, Nicola; Willems, Marjolaine; Isidor, Bertrand; Park, Kristen; Balasubramanian, Meena Journal: American journal of medical genetics Issue: Volume 188:Issue 5(2022) Page Start: 1497 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Atypical phenotype of a patient with Bardet–Biedl syndrome type 4. Issue 5 (23rd March 2022) Authors: Sloboda, Natacha; Lambert, Laetitia; Ciorna, Viorica; Bruel, Ange‐Line; Tran Mau‐Them, Frédéric; Gomola, Vladimir; Lemelle, Jean‐Louis; Klein, Olivier; Camoin‐Schweitzer, Marie‐Christine; Magnavacca, Marie; Legagneur, Carole; Ezsto, Marie‐Laure; Bonnet, Céline; Philippe, Christophe; Leheup, Bruno Journal: Molecular genetics & genomic medicine Issue: Volume 10:Issue 5(2022) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗