1. 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) ↗
2. De novo coding variants in the AGO1 gene cause a neurodevelopmental disorder with intellectual disability. Issue 10 (15th December 2021) Authors: Schalk, Audrey; Cousin, Margot A; Dsouza, Nikita R; Challman, Thomas D; Wain, Karen E; Powis, Zoe; Minks, Kelly; Trimouille, Aurélien; Lasseaux, Eulalie; Lacombe, Didier; Angelini, Chloé; Michaud, Vincent; Van-Gils, Julien; Spataro, Nino; Ruiz, Anna; Gabau, Elizabeth; Stolerman, Elliot; Washingto... Journal: Journal of medical genetics Issue: Volume 59:Issue 10(2022) Page Start: 965 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Diagnostic implications of genetic copy number variation in epilepsy plus. (13th March 2019) Authors: Coppola, Antonietta; Cellini, Elena; Stamberger, Hannah; Saarentaus, Elmo; Cetica, Valentina; Lal, Dennis; Djémié, Tania; Bartnik‐Glaska, Magdalena; Ceulemans, Berten; Helen Cross, J.; Deconinck, Tine; Masi, Salvatore De; Dorn, Thomas; Guerrini, Renzo; Hoffman‐Zacharska, Dorotha; Kooy, Frank; Lag... Other Names: Lehesjioki Anna‐Elina investigator.; Craiu Dana investigator.; Talvik Tiina investigator.; Caglayan Hande investigator.; Serratosa Jose investigator.; Sterbova Katalin investigator.; Møller Rikke S. investigator.; Hjalgrim Helle investigator.; Lerche Holger investigator.; Weber Yvonne investigato... Journal: Epilepsia Issue: Volume 60:issue 4(2019) Page Start: 689 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Estimating the effect size of the 15Q11.2 BP1–BP2 deletion and its contribution to neurodevelopmental symptoms: recommendations for practice. Issue 10 (26th August 2019) Authors: Jønch, Aia Elise; Douard, Elise; Moreau, Clara; Van Dijck, Anke; Passeggeri, Marzia; Kooy, Frank; Puechberty, Jacques; Campbell, Carolyn; Sanlaville, Damien; Lefroy, Henrietta; Richetin, Sonia; Pain, Aurelie; Geneviève, David; Kini, Usha; Le Caignec, Cédric; Lespinasse, James; Skytte, Anne-Bine; ... Other Names: author non-byline.; Andrieux Joris author non-byline.; Barnicoat Angela author non-byline.; Blanchet Patricia author non-byline.; Blesson Sophie author non-byline.; Bütschi Florence Niel author non-byline.; Campeau Philippe M author non-byline.; Chelloug Nora author non-byline.; Debray François-... Journal: Journal of medical genetics Issue: Volume 56:Issue 10(2019) Page Start: 701 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Fragile x syndrome : from genetics to targeted treatment /: from genetics to targeted treatment. (2017) Editors: Willemsen, Rob; Kooy, Frank Record Type: Book Extent: 1 online resource View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Gaps in Current Autism Research: The Thoughts of the Autism Research Editorial Board and Associate Editors. Issue 5 (26th April 2019) Authors: Amaral, David G.; Anderson, George M.; Bailey, Anthony; Bernier, Raphe; Bishop, Somer; Blatt, Gene; Canal‐Bedia, Ricardo; Charman, Tony; Dawson, Geraldine; de Vries, Petrus J.; Dicicco‐Bloom, Emanuel; Dissanayake, Cheryl; Kamio, Yoko; Kana, Rajesh; Khan, Naila Z.; Knoll, Allison; Kooy, Frank; Lai... Journal: Autism research Issue: Volume 12:Issue 5(2019) Page Start: 700 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Genetic variants in the KDM6B gene are associated with neurodevelopmental delays and dysmorphic features. Issue 7 (23rd May 2019) Authors: Stolerman, Elliot S.; Francisco, Elizabeth; Stallworth, Jennifer L.; Jones, Julie R.; Monaghan, Kristin G.; Keller‐Ramey, Jennifer; Person, Richard; Wentzensen, Ingrid M.; McWalter, Kirsty; Keren, Boris; Heron, Benedicte; Nava, Caroline; Heron, Delphine; Kim, Katherine; Burton, Barbara; Al‐Musafr... Journal: American journal of medical genetics Issue: Volume 179:Issue 7(2019) Page Start: 1276 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. PLCB1 epileptic encephalopathies; Review and expansion of the phenotypic spectrum. (May 2016) Authors: Schoonjans, An-Sofie; Meuwissen, Marije; Reyniers, Edwin; Kooy, Frank; Ceulemans, Berten Journal: European journal of paediatric neurology Issue: Volume 20:Number 3(2016:May) Page Start: 474 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. PUM1 haploinsufficiency is associated with syndromic neurodevelopmental delay and epilepsy. Issue 3 (20th December 2019) Authors: Voet, Julie; Ceulemans, Berten; Kooy, Frank; Meuwissen, Marije E. C. Journal: American journal of medical genetics Issue: Volume 182:Issue 3(2020) Page Start: 591 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Thoracic dimples and dysmorphic features associated with a partial duplication and triplication of chromosome 12q24. Issue 4 (October 2016) Authors: Somers, Ines V.B.; Wojciechowski, Marek; Beckers, Sigri; Rooms, Liesbeth; Kooy, Frank; Meuwissen, Marije E.C. Journal: Clinical dysmorphology Issue: Volume 25:Issue 4(2016:Oct.) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗