1. 19p13 microduplications encompassing NFIX are responsible for intellectual disability, short stature and small head circumference. (January 2018) Authors: Trimouille, Aurélien; Houcinat, Nada; Vuillaume, Marie-Laure; Fergelot, Patricia; Boucher, Cécile; Toutain, Jérôme; Caignec, Cédric; Vincent, Marie; Nizon, Mathilde; Andrieux, Joris; Vanlerberghe, Clémence; Delobel, Bruno; Duban, Bénédicte; Mansour, Sahar; Baple, Emma; McKeown, Colina; Poke, Gemm... Journal: European journal of human genetics Issue: Volume 26:Number 1(2018) Page Start: 85 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. A fascinating overview of the biology of fragile X syndrome. (January 2019) Authors: Hergersberg, Martin Journal: European journal of human genetics Issue: Volume 27:Number 1(2019) Page Start: 160 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. A genome-wide search for new imprinted genes in the human placenta identifies DSCAM as the first imprinted gene on chromosome 21. (January 2019) Authors: Allach El Khattabi, Laïla; Backer, Stéphanie; Pinard, Amélie; Dieudonné, Marie-Noëlle; Tsatsaris, Vassilis; Vaiman, Daniel; Dandolo, Luisa; Bloch-Gallego, Evelyne; Jammes, Hélène; Barbaux, Sandrine Journal: European journal of human genetics Issue: Volume 27:Number 1(2019) Page Start: 49 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. A genotype-first approach identifies an intellectual disability-overweight syndrome caused by PHIP haploinsufficiency. (January 2018) Authors: Jansen, Sandra; Hoischen, Alexander; Coe, Bradley; Carvill, Gemma; Esch, Hilde; Bosch, Daniëlle; Andersen, Ulla; Baker, Carl; Bauters, Marijke; Bernier, Raphael; Bon, Bregje; Claahsen-van der Grinten, Hedi; Gecz, Jozef; Gilissen, Christian; Grillo, Lucia; Hackett, Anna; Kleefstra, Tjitske; Koolen... Journal: European journal of human genetics Issue: Volume 26:Number 1(2018) Page Start: 54 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. A novel homozygous ARL13B variant in patients with Joubert syndrome impairs its guanine nucleotide-exchange factor activity. (December 2017) Authors: Rafiullah, Rafiullah; Long, Alyssa; Ivanova, Anna; Ali, Hazrat; Berkel, Simone; Mustafa, Ghulam; Paramasivam, Nagarajan; Schlesner, Matthias; Wiemann, Stefan; Wade, Rebecca; Bolthauser, Eugen; Blum, Martin; Kahn, Richard; Caspary, Tamara; Rappold, Gudrun Journal: European journal of human genetics Issue: Volume 25:Number 12(2017) Page Start: 1324 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. A patient-specific induced pluripotent stem cell model for West syndrome caused by ST3GAL3 deficiency. (December 2018) Authors: Diepen, Laura; Buettner, Falk; Hoffmann, Dirk; Thiesler, Christina; von Bohlen und Halbach, Oliver; von Bohlen und Halbach, Viola; Jensen, Lars; Steinemann, Doris; Edvardson, Simon; Elpeleg, Orly; Schambach, Axel; Gerardy-Schahn, Rita; Kuss, Andreas Journal: European journal of human genetics Issue: Volume 26:Number 12(2018) Page Start: 1773 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. A study of Kibbutzim in Israel reveals risk factors for cardiometabolic traits and subtle population structure. (December 2018) Authors: Granot-Hershkovitz, Einat; Karasik, David; Friedlander, Yechiel; Rodriguez-Murillo, Laura; Dorajoo, Rajkumar; Liu, Jianjun; Sewda, Anshuman; Peter, Inga; Carmi, Shai; Hochner, Hagit Journal: European journal of human genetics Issue: Volume 26:Number 12(2018) Page Start: 1848 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. A weighted burden test using logistic regression for integrated analysis of sequence variants, copy number variants and polygenic risk score. (January 2019) Authors: Curtis, David Journal: European journal of human genetics Issue: Volume 27:Number 1(2019) Page Start: 114 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. An MTF1 binding site disrupted by a homozygous variant in the promoter of ATP7B likely causes Wilson Disease. (December 2018) Authors: Chen, Heidi; Jagadeesh, Karthik; Birgmeier, Johannes; Wenger, Aaron; Guturu, Harendra; Schelley, Susan; Bernstein, Jonathan; Bejerano, Gill Journal: European journal of human genetics Issue: Volume 26:Number 12(2018) Page Start: 1810 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Analysis of VUS reporting, variant reinterpretation and recontact policies in clinical genomic sequencing consent forms. (December 2018) Authors: Vears, Danya; Niemiec, Emilia; Howard, Heidi; Borry, Pascal Journal: European journal of human genetics Issue: Volume 26:Number 12(2018) Page Start: 1743 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗