1. Genetic studies of ANKRD6 as a molecular switch between Wnt signaling pathways in human neural tube defects. Issue 1 (8th September 2014) Authors: Allache, Redouane; Wang, Mingqin; De Marco, Patrizia; Merello, Elisa; Capra, Valeria; Kibar, Zoha Journal: Birth defects research Issue: Volume 103:Issue 1(2015) Page Start: 20 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Loss-of-function de novo mutations play an important role in severe human neural tube defects. Issue 7 (24th March 2015) Authors: Lemay, Philippe; Guyot, Marie-Claude; Tremblay, Élizabeth; Dionne-Laporte, Alexandre; Spiegelman, Dan; Henrion, Édouard; Diallo, Ousmane; De Marco, Patrizia; Merello, Elisa; Massicotte, Christine; Désilets, Valérie; Michaud, Jacques L; Rouleau, Guy A; Capra, Valeria; Kibar, Zoha Journal: Journal of medical genetics Issue: Volume 52:Issue 7(2015) Page Start: 493 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Novel mutations in Lrp6 orthologs in mouse and human neural tube defects affect a highly dosage-sensitive Wnt non-canonical planar cell polarity pathway. (7th May 2014) Authors: Allache, Redouane; Lachance, Stéphanie; Guyot, Marie Claude; De Marco, Patrizia; Merello, Elisa; Justice, Monica J.; Capra, Valeria; Kibar, Zoha Journal: Human molecular genetics Issue: Volume 23:Number 15(2014:Aug. 01) Page Start: 4185 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Planar cell polarity gene mutations contribute to the etiology of human neural tube defects in our population. Issue 8 (17th May 2014) Authors: De Marco, Patrizia; Merello, Elisa; Piatelli, Gianluca; Cama, Armando; Kibar, Zoha; Capra, Valeria; Finnell, Richard H.; Mitchell, Laura E. Journal: Birth defects research Issue: Volume 100:Issue 8(2014:Aug.) Page Start: 633 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Rare deleterious variants in GRHL3 are associated with human spina bifida. Issue 6 (24th March 2017) Authors: Lemay, Philippe; De Marco, Patrizia; Emond, Alexandre; Spiegelman, Dan; Dionne‐Laporte, Alexandre; Laurent, Sandra; Merello, Elisa; Accogli, Andrea; Rouleau, Guy A; Capra, Valeria; Kibar, Zoha Journal: Human mutation Issue: Volume 38:Issue 6(2017) Page Start: 716 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Rare missense variants in DVL1, one of the human counterparts of the Drosophila dishevelled gene, do not confer increased risk for neural tube defects. Issue 7 (8th July 2013) Authors: Merello, Elisa; Kibar, Zoha; Allache, Redouane; Piatelli, Gianluca; Cama, Armando; Capra, Valeria; De, Patrizia Journal: Birth defects research Issue: Volume 97:Issue 7(2013:Jul.) Page Start: 452 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Role of the planar cell polarity gene Protein tyrosine kinase 7 in neural tube defects in humans. Issue 12 (14th September 2015) Authors: Wang, Mingqin; De Marco, Patrizia; Merello, Elisa; Drapeau, Pierre; Capra, Valeria; Kibar, Zoha Journal: Birth defects research Issue: Volume 103:Issue 12(2015) Page Start: 1021 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Sacral agenesis: a pilot whole exome sequencing and copy number study. Issue 1 (December 2016) Authors: Porsch, Robert; Merello, Elisa; De Marco, Patrizia; Cheng, Guo; Rodriguez, Laura; So, Manting; Sham, Pak; Tam, Paul; Capra, Valeria; Cherny, Stacey; Garcia-Barcelo, Maria-Mercè; Campbell, Desmond Journal: BMC medical genetics Issue: Volume 17:Issue 1(2016) Page Start: 1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Spinal lipoma as a dysembryogenetic anomaly: Four unusual cases of ectopic iliac rib within the spinal lipoma. Issue 7 (18th April 2016) Authors: Accogli, Andrea; Pavanello, Marco; Accorsi, Patrizia; De Marco, Patrizia; Merello, Elisa; Pacetti, Mattia; Nozza, Paolo; Fiorillo, Chiara; Pinelli, Lorenzo; Cama, Armando; Rossi, Andrea; Catala, Martin; Capra, Valeria Journal: Birth defects research Issue: Volume 106:Issue 7(2016) Page Start: 530 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Whole exome sequencing identifies novel predisposing genes in neural tube defects. Issue 1 (10th November 2018) Authors: Lemay, Philippe; De Marco, Patrizia; Traverso, Monica; Merello, Elisa; Dionne‐Laporte, Alexandre; Spiegelman, Dan; Henrion, Édouard; Diallo, Ousmane; Audibert, François; Michaud, Jacques L.; Cama, Armando; Rouleau, Guy A.; Kibar, Zoha; Capra, Valeria Journal: Molecular genetics & genomic medicine Issue: Volume 7:Issue 1(2019) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗