1. Estimating the effect size of the 15Q11.2 BP1–BP2 deletion and its contribution to neurodevelopmental symptoms: recommendations for practice. Issue 10 (26th August 2019) Authors: Jønch, Aia Elise; Douard, Elise; Moreau, Clara; Van Dijck, Anke; Passeggeri, Marzia; Kooy, Frank; Puechberty, Jacques; Campbell, Carolyn; Sanlaville, Damien; Lefroy, Henrietta; Richetin, Sonia; Pain, Aurelie; Geneviève, David; Kini, Usha; Le Caignec, Cédric; Lespinasse, James; Skytte, Anne-Bine; ... Other Names: author non-byline.; Andrieux Joris author non-byline.; Barnicoat Angela author non-byline.; Blanchet Patricia author non-byline.; Blesson Sophie author non-byline.; Bütschi Florence Niel author non-byline.; Campeau Philippe M author non-byline.; Chelloug Nora author non-byline.; Debray François-... Journal: Journal of medical genetics Issue: Volume 56:Issue 10(2019) Page Start: 701 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Fibrodysplasia ossificans progressiva: bilateral hallux valgus on ultrasound a clue for the first prenatal diagnosis for this condition—clinical report and review of the literature. (19th November 2014) Authors: Maftei, Catalina; Rypens, Françoise; Thiffault, Isabelle; Dubé, Johanne; Laberge, Anne‐Marie; Lemyre, Emmanuelle Journal: Prenatal diagnosis Issue: Volume 35:Number 3(2015:Mar.) Page Start: 305 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Fibrodysplasia ossificans progressiva: bilateral hallux valgus on ultrasound a clue for the first prenatal diagnosis for this condition—clinical report and review of the literature. (19th November 2014) Authors: Maftei, Catalina; Rypens, Françoise; Thiffault, Isabelle; Dubé, Johanne; Laberge, Anne‐Marie; Lemyre, Emmanuelle Journal: Prenatal diagnosis Issue: Volume 35:Number 3(2015:Mar.) Page Start: 305 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. FRMPD4 mutations cause X-linked intellectual disability and disrupt dendritic spine morphogenesis. (18th December 2017) Authors: Piard, Juliette; Hu, Jia-Hua; Campeau, Philippe M; Rzońca, Sylwia; Van Esch, Hilde; Vincent, Elizabeth; Han, Mei; Rossignol, Elsa; Castaneda, Jennifer; Chelly, Jamel; Skinner, Cindy; Kalscheuer, Vera M; Wang, Ruihua; Lemyre, Emmanuelle; Kosińska, Joanna; Stawinski, Piotr; Bal, Jerzy; Hoffman, Dax... Journal: Human molecular genetics Issue: Volume 27:Number 4(2018:Feb. 15) Page Start: 589 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Genomic study of severe fetal anomalies and discovery of GREB1L mutations in renal agenesis. (July 2018) Authors: Boissel, Sarah; Fallet-Bianco, Catherine; Chitayat, David; Kremer, Valérie; Nassif, Christina; Rypens, Françoise; Delrue, Marie-Ange; Dal Soglio, Dorothée; Oligny, Luc; Patey, Natalie; Flori, Elisabeth; Cloutier, Mireille; Dyment, David; Campeau, Philippe; Karalis, Aspasia; Nizard, Sonia; Fraser,... Journal: Genetics in medicine Issue: Volume 20:Number 7(2018) Page Start: 745 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. MG-120 Chorionic villus sampling: 3 cases with discrepancies between ifish, array-cgh and karyotype. (4th December 2015) Authors: Léveillé, France; Nizard, Sonia; Mathonnet, Géraldine; Lemyre, Emmanuelle; Tihy, Frédérique Journal: Journal of medical genetics Issue: Volume 52(2015)Supplement 2 Page Start: A8 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. MG-121 Five new patients with pure distal 1q trisomy, review of the literature and phenotype redefinition. (4th December 2015) Authors: Maftei, Catalina; Laberge, Anne-Marie; Maranda, Bruno; Mitchell, Grant; Nizard, Sonia; Tihy, Frédérique; Lemyre, Emmanuelle Journal: Journal of medical genetics Issue: Volume 52(2015)Supplement 1 Page Start: A5 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. MG-122 Cytogenetic characterisation of 3 small supernumerary chromosomal markers in a 1 year-old girl. (4th December 2015) Authors: Léveillé, France; Mathonnet, Géraldine; Laframboise, Rachel; Lemyre, Emmanuelle; Nizard, Sonia; Tihy, Frédérique Journal: Journal of medical genetics Issue: Volume 52(2015)Supplement 1 Page Start: A5 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Mutations in TMEM231 cause Joubert syndrome in French Canadians. Issue 10 (25th September 2012) Authors: Srour, Myriam; Hamdan, Fadi F; Schwartzentruber, Jeremy A; Patry, Lysanne; Ospina, Luis H; Shevell, Michael I; Désilets, Valérie; Dobrzeniecka, Sylvia; Mathonnet, Géraldine; Lemyre, Emmanuelle; Massicotte, Christine; Labuda, Damian; Amrom, Dina; Andermann, Eva; Sébire, Guillaume; Maranda, Bruno; ... Journal: Journal of medical genetics Issue: Volume 49:Issue 10(2012) Page Start: 636 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. NUP98‐BPTF gene fusion identified in primary refractory acute megakaryoblastic leukemia of infancy. Issue 6 (28th March 2018) Authors: Roussy, Mathieu; Bilodeau, Mélanie; Jouan, Loubna; Tibout, Pauline; Laramée, Louise; Lemyre, Emmanuelle; Léveillé, France; Tihy, Frédérique; Cardin, Sophie; Sauvageau, Camille; Couture, Françoise; Louis, Isabelle; Choblet, Aurélien; Patey, Natalie; Gendron, Patrick; Duval, Michel; Teira, Pierre; ... Journal: Genes, chromosomes & cancer Issue: Volume 57:Issue 6(2018) Page Start: 311 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗