11. Inactivation of AMMECR1 is associated with growth, bone, and heart alterations. Issue 2 (14th December 2017) Authors: Moysés‐Oliveira, Mariana; Giannuzzi, Giuliana; Fish, Richard J.; Rosenfeld, Jill A.; Petit, Florence; Soares, Maria de Fatima; Kulikowski, Leslie Domenici; Di‐Battista, Adriana; Zamariolli, Malú; Xia, Fan; Liehr, Thomas; Kosyakova, Nadezda; Carvalheira, Gianna; Parker, Michael; Seaby, Eleanor G.;... Journal: Human mutation Issue: Volume 39:Issue 2(2018) Page Start: 281 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
12. Inhibition of G-protein signalling in cardiac dysfunction of intellectual developmental disorder with cardiac arrhythmia (IDDCA) syndrome. Issue 12 (10th November 2020) Authors: De Nittis, Pasquelena; Efthymiou, Stephanie; Sarre, Alexandre; Guex, Nicolas; Chrast, Jacqueline; Putoux, Audrey; Sultan, Tipu; Raza Alvi, Javeria; ur Rahman, Zia; Zafar, Faisal; Rana, Nuzhat; Rahman, Fatima; Anwar, Najwa; Maqbool, Shazia; Zaki, Maha S; Gleeson, Joseph G; Murphy, David; Galehdari... Other Names: author non-byline.; Groppa Stanislav author non-byline.; Karashova Blagovesta Marinova author non-byline.; Nachbauer Wolfgang author non-byline.; Boesch Sylvia author non-byline.; Arning Larissa author non-byline.; Timmann Dagmar author non-byline.; Cormand Bru author non-byline.; Pérez-Dueñas B... Journal: Journal of medical genetics Issue: Volume 58:Issue 12(2021) Page Start: 815 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
13. Low number of fixed somatic mutations in a long-lived oak tree. (December 2017) Authors: Schmid-Siegert, Emanuel; Sarkar, Namrata; Iseli, Christian; Calderon, Sandra; Gouhier-Darimont, Caroline; Chrast, Jacqueline; Cattaneo, Pietro; Schütz, Frédéric; Farinelli, Laurent; Pagni, Marco; Schneider, Michel; Voumard, Jérémie; Jaboyedoff, Michel; Fankhauser, Christian; Hardtke, Christian; K... Journal: Nature plants Issue: Volume 3:Number 12(2017) Page Start: 926 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
14. Mutations in LONP1, a mitochondrial matrix protease, cause CODAS syndrome. (21st March 2015) Authors: Dikoglu, Esra; Alfaiz, Ali; Gorna, Maria; Bertola, Deborah; Chae, Jong Hee; Cho, Tae‐Joon; Derbent, Murat; Alanay, Yasemin; Guran, Tulay; Kim, Ok‐Hwa; Llerenar Jr, Juan C.; Yamamoto, Guillerme; Superti‐Furga, Giulio; Reymond, Alexandre; Xenarios, Ioannis; Stevenson, Brian; Campos‐Xavier, Belinda;... Journal: American journal of medical genetics Issue: Volume 167:Number 7(2015:Jul.) Page Start: 1501 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
15. Ophthalmic phenotypes associated with biallelic loss‐of‐function PCDH12 variants. Issue 4 (2nd February 2021) Authors: Mattioli, Francesca; Voisin, Norine; Preikšaitienė, Eglė; Kozlovskaja, Irina; Kučinskas, Vaidutis; Reymond, Alexandre Journal: American journal of medical genetics Issue: Volume 185:Issue 4(2021) Page Start: 1275 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
16. Pathogenic homozygous variant in POMK gene is the cause of prenatally detected severe ventriculomegaly in two Lithuanian families. Issue 3 (12th December 2019) Authors: Preiksaitiene, Egle; Voisin, Norine; Gueneau, Lucie; Benušienė, Eglė; Krasovskaja, Natalija; Blažytė, Evelina Marija; Ambrozaitytė, Laima; Rančelis, Tautvydas; Reymond, Alexandre; Kučinskas, Vaidutis Journal: American journal of medical genetics Issue: Volume 182:Issue 3(2020) Page Start: 536 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
17. PIGN encephalopathy: Characterizing the epileptology. Issue 4 (18th February 2022) Authors: Bayat, Allan; de Valles‐Ibáñez, Guillem; Pendziwiat, Manuela; Knaus, Alexej; Alt, Kerstin; Biamino, Elisa; Bley, Annette; Calvert, Sophie; Carney, Patrick; Caro‐Llopis, Alfonso; Ceulemans, Berten; Cousin, Janice; Davis, Suzanne; des Portes, Vincent; Edery, Patrick; England, Eleina; Ferreira, Carl... Journal: Epilepsia Issue: Volume 63:Issue 4(2022) Page Start: 974 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
18. Prenatal cerebral imaging features of a new syndromic entity related to KIAA1109 pathogenic variants mimicking tubulinopathy. (5th December 2019) Authors: Cabet, Sara; Putoux, Audrey; Buenerd, Annie; Gueneau, Lucie; Reymond, Alexandre; Thia, Edwin W.H.; Lai, Angeline H.M.; Schindewolf, Erica M.; Sanlaville, Damien; Lesca, Gaetan; Guibaud, Laurent Journal: Prenatal diagnosis Issue: Volume 40:Number 2(2020) Page Start: 276 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
19. Reporting incidental findings of genomic disorder-associated copy number variants to unselected biobank participants. (July 2016) Authors: Leitsalu, Liis; Alavere, Helene; Jacquemont, Sébastien; Kolk, Anneli; Maillard, Anne M; Reigo, Anu; Nõukas, Margit; Reymond, Alexandre; Männik, Katrin; Ng, Pauline C; Metspalu, Andres Journal: Personalized medicine Issue: Volume 13:Number 4(2016) Page Start: 303 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
20. TBC1D7 Mutations are Associated with Intellectual Disability, Macrocrania, Patellar Dislocation, and Celiac Disease. Issue 4 (April 2014) Authors: Alfaiz, Ali Abdullah; Micale, Lucia; Mandriani, Barbara; Augello, Bartolomeo; Pellico, Maria Teresa; Chrast, Jacqueline; Xenarios, Ioannis; Zelante, Leopoldo; Merla, Giuseppe; Reymond, Alexandre Journal: Human mutation Issue: Volume 35:Issue 4(2014:Apr.) Page Start: 447 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗