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Author/Creator Spinner Nancy B. guestEditor.

11. 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) ↗

12. 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) ↗

13. 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) ↗

14. 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) ↗

16. Transcriptome analysis provides critical answers to the "variants of uncertain significance" conundrum. Issue 11 (18th May 2022)

Authors:
Postel, Mackenzie D.; Culver, Julie O.; Ricker, Charité; Craig, David W.
Other Names:
Scott Stuart A. guestEditor.; Wang Kai guestEditor.; Spinner Nancy B. guestEditor.
Journal:
Human mutation
Issue:
Volume 43:Issue 11(2022)
Page Start:
1590
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

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