1. 90 Rapid exome sequencing service for acutely unwell children with a likely monogenic disorder. (30th November 2020) Authors: Steel, Edward; Leitch, Harry; Cobben, Jan; Wakeling, Emma Journal: Archives of disease in childhood Issue: Volume 105(2020)Supplement 2 Page Start: A31 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Gene–disease relationship evidence: A clinical perspective focusing on ultra‐rare diseases. Issue 8 (24th March 2022) Authors: Santen, Gijs W. E.; Leitch, Harry G.; Cobben, Jan Other Names: Laner Andreas guestEditor.; Maver Ales guestEditor.; den Dunnen Johan T. guestEditor. Journal: Human mutation Issue: Volume 43:Issue 8(2022) Page Start: 1082 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Homozygous Type IX collagen variants (COL9A1, COL9A2, and COL9A3) causing recessive Stickler syndrome—Expanding the phenotype. Issue 8 (14th May 2019) Authors: Nixon, Thomas R. W.; Alexander, Philip; Richards, Allan; McNinch, Annie; Bearcroft, Philip W. P.; Cobben, Jan; Snead, Martin P. Journal: American journal of medical genetics Issue: Volume 179:Issue 8(2019) Page Start: 1498 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. The Genetic Landscape of Complex Childhood‐Onset Hyperkinetic Movement Disorders. Issue 11 (25th August 2022) Authors: Pérez‐Dueñas, Belén; Gorman, Kathleen; Marcé‐Grau, Anna; Ortigoza‐Escobar, Juan D.; Macaya, Alfons; Danti, Federica R.; Barwick, Katy; Papandreou, Apostolos; Ng, Joanne; Meyer, Esther; Mohammad, Shekeeb S.; Smith, Martin; Muntoni, Francesco; Munot, Pinki; Uusimaa, Johanna; Vieira, Päivi; Sheridan... Journal: Movement disorders Issue: Volume 37:Issue 11(2022) Page Start: 2197 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗