1. A novel de novo PDGFRB variant in a child with severe cerebral malformations, intracerebral calcifications, and infantile myofibromatosis. Issue 7 (19th April 2019) Authors: Guimier, Anne; Gordon, Christopher T.; Hully, Marie; Blauwblomme, Thomas; Minard‐Colin, Véronique; Bole‐Feysot, Christine; Nitschké, Patrick; Oufadem, Myriam; Boddaert, Nathalie; Sarnacki, Sabine; Amiel, Jeanne Journal: American journal of medical genetics Issue: Volume 179:Issue 7(2019) Page Start: 1304 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Activating variants in PDGFRB result in a spectrum of disorders responsive to imatinib monotherapy. Issue 7 (5th June 2020) Authors: Wenger, Tara L.; Bly, Randall A.; Wu, Natalie; Albert, Catherine M.; Park, Julie; Shieh, Joseph; Chenbhanich, Jirat; Heike, Carrie L.; Adam, Margaret P.; Chang, Irene; Sun, Angela; Miller, Danny E.; Beck, Anita E.; Gupta, Deepti; Boos, Markus D.; Zackai, Elaine H.; Everman, David; Ganapathi, Shir... Journal: American journal of medical genetics Issue: Volume 182:Issue 7(2020) Page Start: 1576 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Biallelic alterations in PLXND1 cause common arterial trunk and other cardiac malformations in humans. Issue 3 (9th April 2022) Authors: Guimier, Anne; de Pontual, Loïc; Braddock, Stephen R; Torti, Erin; Pérez-Jurado, Luis A; Muñoz-Cabello, Patricia; Arumí, Montserrat; Monaghan, Kristin G; Lee, Hane; Wang, Lee-kai; Pluym, Ilina D; Lynch, Sally Ann; Stals, Karen; Ellard, Sian; Muller, Cécile; Houyel, Lucile; Cohen, Laurence; Lyonne... Journal: Human molecular genetics Issue: Volume 32:Issue 3(2023) Page Start: 353 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. De novo mutations in the X-linked TFE3 gene cause intellectual disability with pigmentary mosaicism and storage disorder-like features. Issue 12 (14th May 2020) Authors: Lehalle, Daphné; Vabres, Pierre; Sorlin, Arthur; Bierhals, Tatjana; Avila, Magali; Carmignac, Virginie; Chevarin, Martin; Torti, Erin; Abe, Yuichi; Bartolomaeus, Tobias; Clayton-Smith, Jill; Cogné, Benjamin; Cusco, Ivon; Duplomb, Laurence; De Bont, Eveline; Duffourd, Yannis; Duijkers, Floor; Elpe... Journal: Journal of medical genetics Issue: Volume 57:Issue 12(2020) Page Start: 808 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Expanding the molecular spectrum of pathogenic SHOC2 variants underlying Mazzanti syndrome. Issue 16 (26th March 2022) Authors: Motta, Marialetizia; Solman, Maja; Bonnard, Adeline A; Kuechler, Alma; Pantaleoni, Francesca; Priolo, Manuela; Chandramouli, Balasubramanian; Coppola, Simona; Pizzi, Simone; Zara, Erika; Ferilli, Marco; Kayserili, Hülya; Onesimo, Roberta; Leoni, Chiara; Brinkmann, Julia; Vial, Yoann; Kamphausen, ... Journal: Human molecular genetics Issue: Volume 31:Issue 16(2022) Page Start: 2766 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Kaposi sarcoma, oral malformations, mitral dysplasia, and scoliosis associated with 7q34‐q36.3 heterozygous terminal deletion. Issue 7 (9th May 2017) Authors: Jackson, Carolyn C.; Lefèvre‐Utile, Alain; Guimier, Anne; Malan, Valérie; Bruneau, Julie; Gessain, Antoine; Cassar, Olivier; Amiel, Jeanne; Cobat, Aurélie; Rattina, Vimel; Abel, Laurent; Casanova, Jean‐Laurent; Blanche, Stéphane Journal: American journal of medical genetics Issue: Volume 173:Issue 7(2017) Page Start: 1858 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Multiple congenital anomalies‐intellectual disability (MCA‐ID) and neuroblastoma in a patient harboring a de novo 14q23.1q23.3 deletion. Issue 5 (24th March 2014) Authors: Lehalle, Daphné; Sanlaville, Damien; Guimier, Anne; Plouvier, Emmanuel; Leblanc, Thierry; Galmiche, Louise; Radford, Isabelle; Romana, Serge; Colleaux, Laurence; de Pontual, Loïc; Lyonnet, Stanislas; Amiel, Jeanne Journal: American journal of medical genetics Issue: Volume 164:Issue 5(2014.) Page Start: 1310 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Oncologic Phenotype of Peripheral Neuroblastic Tumors Associated With PHOX2B Non‐Polyalanine Repeat Expansion Mutations. Issue 1 (16th September 2015) Authors: Heide, Solveig; Masliah‐Planchon, Julien; Isidor, Bertrand; Guimier, Anne; Bodet, Damien; Coze, Carole; Deville, Anne; Thebault, Estelle; Pasquier, Corinne Jeanne; Cassagnau, Elisabeth; Pierron, Gaelle; Clément, Nathalie; Schleiermacher, Gudrun; Amiel, Jeanne; Delattre, Olivier; Peuchmaur, Michel... Journal: Pediatric blood & cancer Issue: Volume 63:Issue 1(2016) Page Start: 71 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Overlapping phenotypes between SHORT and Noonan syndromes in patients with PTPN11 pathogenic variants. Issue 1 (22nd April 2020) Authors: Ranza, Emmanuelle; Guimier, Anne; Verloes, Alain; Capri, Yline; Marques, Charles; Auclair, Martine; Mathieu‐Dramard, Michèle; Morin, Gilles; Thevenon, Julien; Faivre, Laurence; Thauvin‐Robinet, Christel; Innes, A. Micheil; Dyment, David A.; Vigouroux, Corinne; Amiel, Jeanne Journal: Clinical genetics Issue: Volume 98:Issue 1(2020) Page Start: 10 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Retrospective evaluation of clinical and molecular data of 148 cases of esophageal atresia. Issue 1 (21st October 2022) Authors: Ranza, Emmanuelle; Le Gouez, Morgane; Guimier, Anne; Dunlop, Naziha Khen; Beaudoin, Sylvie; Malan, Valérie; Michot, Caroline; Baujat, Geneviève; Rio, Marlène; Cormier‐Daire, Valérie; Abadie, Véronique; Sarnacki, Sabine; Delacourt, Christophe; Lyonnet, Stanislas; Attié‐Bitach, Tania; Pingault, Vér... Journal: American journal of medical genetics Issue: Volume 191:Issue 1(2023) Page Start: 77 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗