1. CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language. Issue 1 (December 2018) Authors: Snijders Blok, Lot; Rousseau, Justine; Twist, Joanna; Ehresmann, Sophie; Takaku, Motoki; Venselaar, Hanka; Rodan, Lance; Nowak, Catherine; Douglas, Jessica; Swoboda, Kathryn; Steeves, Marcie; Sahai, Inderneel; Stumpel, Connie; Stegmann, Alexander; Wheeler, Patricia; Willing, Marcia; Fiala, Elise;... Journal: Nature communications Issue: Volume 9:Issue 1(2018) Page Start: 1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Rare genetic variants in interleukin-37 link this anti-inflammatory cytokine to the pathogenesis and treatment of gout. Issue 4 (29th February 2020) Authors: Klück, Viola; van Deuren, Rosanne C; Cavalli, Giulio; Shaukat, Amara; Arts, Peer; Cleophas, Maartje C; Crișan, Tania O; Tausche, Anne-Kathrin; Riches, Philip; Dalbeth, Nicola; Stamp, Lisa K; Hindmarsh, Jennie Harré; Jansen, Tim L Th A; Janssen, Matthijs; Steehouwer, Marloes; Lelieveld, Stefan; va... Journal: Annals of the rheumatic diseases Issue: Volume 79:Issue 4(2020) Page Start: 536 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Somatic variants in autosomal dominant genes are a rare cause of sporadic Alzheimer's disease. Issue 12 (13th August 2018) Authors: Nicolas, Gaël; Acuña‐Hidalgo, Rocío; Keogh, Michael J.; Quenez, Olivier; Steehouwer, Marloes; Lelieveld, Stefan; Rousseau, Stéphane; Richard, Anne‐Claire; Oud, Manon S.; Marguet, Florent; Laquerrière, Annie; Morris, Chris M.; Attems, Johannes; Smith, Colin; Ansorge, Olaf; Al Sarraj, Safa; Frebour... Journal: Alzheimer's & dementia Issue: Volume 14:Issue 12(2018) Page Start: 1632 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Truncating de novo mutations in the Krüppel-type zinc-finger gene ZNF148 in patients with corpus callosum defects, developmental delay, short stature, and dysmorphisms. Issue 1 (December 2016) Authors: Stevens, Servi; van Essen, Anthonie; van Ravenswaaij, Conny; Elias, Abdallah; Haven, Jaclyn; Lelieveld, Stefan; Pfundt, Rolph; Nillesen, Willy; Yntema, Helger; van Roozendaal, Kees; Stegmann, Alexander; Gilissen, Christian; Brunner, Han Journal: Genome medicine Issue: Volume 8:Issue 1(2016) Page Start: 1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗