1. A phase 1 healthy male volunteer single escalating dose study of the pharmacokinetics and pharmacodynamics of risdiplam (RG7916, RO7034067), a SMN2 splicing modifier. Issue 1 (16th November 2018) Authors: Sturm, Stefan; Günther, Andreas; Jaber, Birgit; Jordan, Paul; Al Kotbi, Nada; Parkar, Nikhat; Cleary, Yumi; Frances, Nicolas; Bergauer, Tobias; Heinig, Katja; Kletzl, Heidemarie; Marquet, Anne; Ratni, Hasane; Poirier, Agnès; Müller, Lutz; Czech, Christian; Khwaja, Omar Journal: British journal of clinical pharmacology Issue: Volume 85:Issue 1(2019) Page Start: 181 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Adaptive behavior in adolescents and adults with Down syndrome: Results from a 6‐month longitudinal study. Issue 1 (20th December 2018) Authors: Spiridigliozzi, Gail A.; Goeldner, Celia; Edgin, Jamie; Hart, Sarah J.; Noeldeke, Jana; Squassante, Lisa; Visootsak, Jeannie; Heller, James H.; Khwaja, Omar; Kishnani, Priya S.; Liogier d'Ardhuy, Xavier Journal: American journal of medical genetics Issue: Volume 179:Issue 1(2019) Page Start: 85 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Copy number variation plays an important role in clinical epilepsy. Issue 6 (13th June 2014) Authors: Olson, Heather; Shen, Yiping; Avallone, Jennifer; Sheidley, Beth R.; Pinsky, Rebecca; Bergin, Ann M.; Berry, Gerard T.; Duffy, Frank H.; Eksioglu, Yaman; Harris, David J.; Hisama, Fuki M.; Ho, Eugenia; Irons, Mira; Jacobsen, Christina M.; James, Philip; Kothare, Sanjeev; Khwaja, Omar; Lipton, Jon... Journal: Annals of neurology Issue: Volume 75:Issue 6(2014:Jun.) Page Start: 943 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Efficacy of a vectorized anti‐tau antibody using systemic dosing of a blood brain barrier penetrant AAV capsid in mouse models of tauopathies. (31st December 2021) Authors: Liu, Wencheng; Holth, Jerrah; Paranjpe, Maneesha; Ren, Xiao‐Qin; Shu, Yanqun; Murlidharan, Giridhar; Chung, Charlotte; Powers, Alex; Peterson, Emalee; Ecker, Abigail; Hameedi, Usman; Grant, Kyle; Kurella, Vinodh; Kavanagh, Dillon; Khwaja, Omar; Hou, Jay; Paul, Steven M.; Bales, Kelly R.; Carter, ... Journal: Alzheimer's & dementia Issue: Volume 17(2021)Supplement 9 Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Efficacy of a vectorized anti‐tau antibody using systemic dosing of a blood brain barrier penetrant AAV capsid in mouse models of tauopathies. (31st December 2021) Authors: Liu, Wencheng; Holth, Jerrah; Paranjpe, Maneesha; Ren, Xiao‐Qin; Shu, Yanqun; Murlidharan, Giridhar; Chung, Charlotte; Powers, Alex; Peterson, Emalee; Ecker, Abigail; Hameedi, Usman; Grant, Kyle; Kurella, Vinodh; Kavanagh, Dillon; Khwaja, Omar; Hou, Jay; Paul, Steven M.; Bales, Kelly R.; Carter, ... Journal: Alzheimer's & dementia Issue: Volume 17(2021)Supplement 9 Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Haematological effects of oral administration of bitopertin, a glycine transport inhibitor, in patients with non‐transfusion‐dependent β‐thalassaemia. (30th April 2021) Authors: Taher, Ali T.; Viprakasit, Vip; Cappellini, Maria Domenica; Kraus, Dominik; Cech, Patrick; Volz, Dietmar; Winter, Erica; Nave, Stephane; Dukart, Juergen; Khwaja, Omar; Koerner, Annette; Hermosilla, Ricardo; Brugnara, Carlo Journal: British journal of haematology Issue: Volume 194:Number 2(2021) Page Start: 474 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. In Search of Biomarkers for Autism Spectrum Disorder. Issue 11 (15th October 2018) Authors: Del Valle Rubido, Marta; McCracken, James T.; Hollander, Eric; Shic, Frederick; Noeldeke, Jana; Boak, Lauren; Khwaja, Omar; Sadikhov, Shamil; Fontoura, Paulo; Umbricht, Daniel Journal: Autism research Issue: Volume 11:Issue 11(2018) Page Start: 1567 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Longitudinal characterization of biomarkers for spinal muscular atrophy. Issue 5 (11th April 2017) Authors: Bonati, Ulrike; Holiga, Štefan; Hellbach, Nicole; Risterucci, Céline; Bergauer, Tobias; Tang, Wakana; Hafner, Patricia; Thoeni, Alain; Bieri, Oliver; Gerlach, Irene; Marquet, Anne; Khwaja, Omar; Sambataro, Fabio; Bertolino, Alessandro; Dukart, Juergen; Fischmann, Arne; Fischer, Dirk; Czech, Chris... Journal: Annals of clinical and translational neurology Issue: Volume 4:Issue 5(2017) Page Start: 292 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Morbidity and medication in a large population of individuals with Down syndrome compared to the general population. (18th August 2015) Authors: Alexander, Myriam; Petri, Hans; Ding, Yingjie; Wandel, Christoph; Khwaja, Omar; Foskett, Nadia Journal: Developmental medicine & child neurology Issue: Volume 58:Number 3(2016:Mar.) Page Start: 246 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Mutations in epilepsy and intellectual disability genes in patients with features of Rett syndrome. (25th April 2015) Authors: Olson, Heather E.; Tambunan, Dimira; LaCoursiere, Christopher; Goldenberg, Marti; Pinsky, Rebecca; Martin, Emilie; Ho, Eugenia; Khwaja, Omar; Kaufmann, Walter E.; Poduri, Annapurna Journal: American journal of medical genetics Issue: Volume 167:Number 9(2015:Sep.) Page Start: 2017 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗