1. Issue Information. Issue 11 (11th October 2022) Other Names: Scott Stuart A. guestEditor.; Wang Kai guestEditor.; Spinner Nancy B. guestEditor. Journal: Human mutation Issue: Volume 43:Issue 11(2022) Page Start: 1491 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Computational analysis of neurodevelopmental phenotypes: Harmonization empowers clinical discovery. Issue 11 (22nd May 2022) Authors: Lewis‐Smith, David; Parthasarathy, Shridhar; Xian, Julie; Kaufman, Michael C.; Ganesan, Shiva; Galer, Peter D.; Thomas, Rhys H.; Helbig, Ingo Other Names: Scott Stuart A. guestEditor.; Wang Kai guestEditor.; Spinner Nancy B. guestEditor. Journal: Human mutation Issue: Volume 43:Issue 11(2022) Page Start: 1642 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Front Cover, Volume 43, Issue 11. Issue 11 (11th October 2022) Authors: Scott, Stuart A.; Wang, Kai; Spinner, Nancy B. Other Names: Scott Stuart A. guestEditor.; Wang Kai guestEditor.; Spinner Nancy B. guestEditor. Journal: Human mutation Issue: Volume 43:Issue 11(2022) Page Start: i Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Long‐read sequencing for molecular diagnostics in constitutional genetic disorders. Issue 11 (18th September 2022) Authors: Conlin, Laura K.; Aref‐Eshghi, Erfan; McEldrew, Deborah A.; Luo, Minjie; Rajagopalan, Ramakrishnan Other Names: Scott Stuart A. guestEditor.; Wang Kai guestEditor.; Spinner Nancy B. guestEditor. Journal: Human mutation Issue: Volume 43:Issue 11(2022) Page Start: 1531 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Phasing of de novo mutations using a scaled‐up multiple amplicon long‐read sequencing approach. Issue 11 (14th September 2022) Authors: Holt, Giles S.; Batty, Lois E.; Alobaidi, Bilal K. S.; Smith, Hannah E.; Oud, Manon S.; Ramos, Liliana; Xavier, Miguel J.; Veltman, Joris A. Other Names: Scott Stuart A. guestEditor.; Wang Kai guestEditor.; Spinner Nancy B. guestEditor. Journal: Human mutation Issue: Volume 43:Issue 11(2022) Page Start: 1545 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Bioinformatics detection of modulators controlling splicing factor‐dependent intron retention in the human brain. Issue 11 (10th May 2022) Authors: Chen, Steven X.; Simpson, Ed; Reiter, Jill L.; Liu, Yunlong Other Names: Scott Stuart A. guestEditor.; Wang Kai guestEditor.; Spinner Nancy B. guestEditor. Journal: Human mutation Issue: Volume 43:Issue 11(2022) Page Start: 1629 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Rapid genome sequencing for pediatrics. Issue 11 (23rd September 2022) Authors: Jezkova, Jana; Shaw, Sophie; Taverner, Nicola V.; Williams, Hywel J. Other Names: Scott Stuart A. guestEditor.; Wang Kai guestEditor.; Spinner Nancy B. guestEditor. Journal: Human mutation Issue: Volume 43:Issue 11(2022) Page Start: 1507 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. A survey of current methods to detect and genotype inversions. Issue 11 (19th September 2022) Authors: Hanlon, Vincent C. T.; Lansdorp, Peter M.; Guryev, Victor Other Names: Scott Stuart A. guestEditor.; Wang Kai guestEditor.; Spinner Nancy B. guestEditor. Journal: Human mutation Issue: Volume 43:Issue 11(2022) Page Start: 1576 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Next‐generation phenotyping contributing to the identification of a 4.7 kb deletion in KANSL1 causing Koolen‐de Vries syndrome. Issue 11 (2nd October 2022) Authors: Brand, Fabian; Vijayananth, Aswinkumar; Hsieh, Tzung‐Chien; Schmidt, Axel; Peters, Sophia; Mangold, Elisabeth; Cremer, Kirsten; Bender, Tim; Sivalingam, Sugirthan; Hundertmark, Hela; Knaus, Alexej; Engels, Hartmut; Krawitz, Peter M.; Perne, Claudia Other Names: Scott Stuart A. guestEditor.; Wang Kai guestEditor.; Spinner Nancy B. guestEditor. Journal: Human mutation Issue: Volume 43:Issue 11(2022) Page Start: 1659 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Multi‐omics analysis reveals multiple mechanisms causing Prader–Willi like syndrome in a family with a X;15 translocation. Issue 11 (23rd July 2022) Authors: Eisfeldt, Jesper; Rezayee, Fatemah; Pettersson, Maria; Lagerstedt, Kristina; Malmgren, Helena; Falk, Anna; Grigelioniene, Giedre; Lindstrand, Anna Other Names: Scott Stuart A. guestEditor.; Wang Kai guestEditor.; Spinner Nancy B. guestEditor. Journal: Human mutation Issue: Volume 43:Issue 11(2022) Page Start: 1567 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗