1. Biallelic B3GALT6 mutations cause spondylodysplastic Ehlers–Danlos syndrome. (20th June 2018) Authors: Van Damme, Tim; Pang, Xiaomeng; Guillemyn, Brecht; Gulberti, Sandrine; Syx, Delfien; De Rycke, Riet; Kaye, Olivier; de Die-Smulders, Christine E M; Pfundt, Rolph; Kariminejad, Ariana; Nampoothiri, Sheela; Pierquin, Geneviève; Bulk, Saskia; Larson, Austin A; Chatfield, Kathryn C; Simon, Marleen; L... Journal: Human molecular genetics Issue: Volume 27:Number 20(2018:Oct. 15) Page Start: 3475 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Biallelic KIF24 Variants Are Responsible for a Spectrum of Skeletal Disorders Ranging From Lethal Skeletal Ciliopathy to Severe Acromesomelic Dysplasia. (19th July 2022) Authors: Reilly, Madeline Louise; Ain, Noor ul; Muurinen, Mari; Tata, Alice; Huber, Céline; Simon, Marleen; Ishaq, Tayyaba; Shaw, Nick; Rusanen, Salla; Pekkinen, Minna; Högler, Wolfgang; Knapen, Maarten F. C. M.; van den Born, Myrthe; Saunier, Sophie; Naz, Sadaf; Cormier‐Daire, Valérie; Benmerah, Alexandr... Journal: Journal of bone and mineral research Issue: Volume 37:Number 9(2022) Page Start: 1642 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. CSNK2B: A broad spectrum of neurodevelopmental disability and epilepsy severity. (26th May 2021) Authors: Ernst, Michelle E.; Baugh, Evan H.; Thomas, Amanda; Bier, Louise; Lippa, Natalie; Stong, Nicholas; Mulhern, Maureen S.; Kushary, Sulagna; Akman, Cigdem I.; Heinzen, Erin L.; Yeh, Raymond; Bi, Weimin; Hanchard, Neil A.; Burrage, Lindsay C.; Leduc, Magalie S.; Chong, Josephine S. C.; Bend, Renee; L... Journal: Epilepsia Issue: Volume 62:issue 7(2021) Page Start: e103 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Expanding the phenotypic spectrum of variants in PDE4D/PRKAR1A: from acrodysostosis to acroscyphodysplasia. (November 2018) Authors: Michot, Caroline; Goff, Carine; Blair, Edward; Blanchet, Patricia; Capri, Yline; Gilbert-Dussardier, Brigitte; Goldenberg, Alice; Henderson, Alex; Isidor, Bertrand; Kayserili, Hulya; Kinning, Esther; Merrer, Martine; Lyonnet, Stanislas; Odent, Sylvie; Simsek-Kiper, Pelin; Quelin, Chloé; Savariray... Journal: European journal of human genetics Issue: Volume 26:Number 11(2018) Page Start: 1611 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Nosology of genetic skeletal disorders: 2023 revision. Issue 5 (13th February 2023) Authors: Unger, Sheila; Ferreira, Carlos R.; Mortier, Geert R.; Ali, Houda; Bertola, Débora R.; Calder, Alistair; Cohn, Daniel H.; Cormier‐Daire, Valerie; Girisha, Katta M.; Hall, Christine; Krakow, Deborah; Makitie, Outi; Mundlos, Stefan; Nishimura, Gen; Robertson, Stephen P.; Savarirayan, Ravi; Sillence... Journal: American journal of medical genetics Issue: Volume 191:Issue 5(2023) Page Start: 1164 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. TAOK1 is associated with neurodevelopmental disorder and essential for neuronal maturation and cortical development. Issue 4 (1st March 2021) Authors: van Woerden, Geeske M.; Bos, Melanie; de Konink, Charlotte; Distel, Ben; Avagliano Trezza, Rossella; Shur, Natasha E.; Barañano, Kristin; Mahida, Sonal; Chassevent, Anna; Schreiber, Allison; Erwin, Angelika L.; Gripp, Karen W.; Rehman, Fatima; Brulleman, Saskia; McCormack, Róisín; de Geus, Gwynna... Journal: Human mutation Issue: Volume 42:Issue 4(2021) Page Start: 445 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Weaver syndrome and EZH2 mutations: Clarifying the clinical phenotype. Issue 12 (8th November 2013) Authors: Tatton‐Brown, Katrina; Murray, Anne; Hanks, Sandra; Douglas, Jenny; Armstrong, Ruth; Banka, Siddharth; Bird, Lynne M.; Clericuzio, Carol L.; Cormier‐Daire, Valerie; Cushing, Tom; Flinter, Frances; Jacquemont, Marie‐Line; Joss, Shelagh; Kinning, Esther; Lynch, Sally Ann; Magee, Alex; McConnell, Vi... Journal: American journal of medical genetics Issue: Volume 161:Issue 12(2013:Dec.) Page Start: 2972 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Weaver syndrome and EZH2 mutations: Clarifying the clinical phenotype. Issue 12 (8th November 2013) Authors: Tatton‐Brown, Katrina; Murray, Anne; Hanks, Sandra; Douglas, Jenny; Armstrong, Ruth; Banka, Siddharth; Bird, Lynne M.; Clericuzio, Carol L.; Cormier‐Daire, Valerie; Cushing, Tom; Flinter, Frances; Jacquemont, Marie‐Line; Joss, Shelagh; Kinning, Esther; Lynch, Sally Ann; Magee, Alex; McConnell, Vi... Journal: American journal of medical genetics Issue: Volume 161:Issue 12(2013:Dec.) Page Start: 2972 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗