1. Altered GPM6A/M6 Dosage Impairs Cognition and Causes Phenotypes Responsive to Cholesterol in Human and Drosophila. Issue 12 (December 2014) Authors: Gregor, Anne; Kramer, Jamie M.; van der Voet, Monique; Schanze, Ina; Uebe, Steffen; Donders, Rogier; Reis, André; Schenck, Annette; Zweier, Christiane Journal: Human mutation Issue: Volume 35:Issue 12(2014:Dec.) Page Start: 1495 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Clinical delineation of the PACS1‐related syndrome—Report on 19 patients. Issue 3 (3rd February 2016) Authors: Schuurs‐Hoeijmakers, Janneke H. M.; Landsverk, Megan L.; Foulds, Nicola; Kukolich, Mary K.; Gavrilova, Ralitza H.; Greville‐Heygate, Stephanie; Hanson‐Kahn, Andrea; Bernstein, Jonathan A.; Glass, Jennifer; Chitayat, David; Burrow, Thomas A.; Husami, Ammar; Collins, Kathleen; Wusik, Katie; van der... Journal: American journal of medical genetics Issue: Volume 170:Issue 3(2016) Page Start: 670 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Dandy–Walker malformation, genitourinary abnormalities, and intellectual disability in two families. (24th June 2015) Authors: Zaki, Maha S.; Masri, Amira; Gregor, Anne; Gleeson, Joseph G.; Rosti, Rasim Ozgur Journal: American journal of medical genetics Issue: Volume 167:Number 11(2015:Nov.) Page Start: 2503 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. De novo missense variants in FBXO11 alter its protein expression and subcellular localization. Issue 3 (9th September 2021) Authors: Gregor, Anne; Meerbrei, Tanja; Gerstner, Thorsten; Toutain, Annick; Lynch, Sally Ann; Stals, Karen; Maxton, Caroline; Lemke, Johannes R; Bernat, John A; Bombei, Hannah M; Foulds, Nicola; Hunt, David; Kuechler, Alma; Beygo, Jasmin; Stöbe, Petra; Bouman, Arjan; Palomares-Bralo, Maria; Santos-Simarr... Journal: Human molecular genetics Issue: Volume 31:Issue 3(2022) Page Start: 440 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Loss of Protocadherin‐12 Leads to Diencephalic‐Mesencephalic Junction Dysplasia Syndrome. Issue 5 (4th October 2018) Authors: Guemez‐Gamboa, Alicia; Çağlayan, Ahmet Okay; Stanley, Valentina; Gregor, Anne; Zaki, Maha S.; Saleem, Sahar N.; Musaev, Damir; McEvoy‐Venneri, Jennifer; Belandres, Denice; Akizu, Naiara; Silhavy, Jennifer L.; Schroth, Jana; Rosti, Rasim Ozgur; Copeland, Brett; Lewis, Steven M.; Fang, Rebecca; Iss... Journal: Annals of neurology Issue: Volume 84:Issue 5(2018) Page Start: 638 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗