Search

Author/Creator Wigby, Kristen

3. Adaptive functioning in children and adolescents with Trisomy X: An exploratory analysis. Issue 2 (17th June 2020)

Authors:
Wigby, Kristen; Cordeiro, Lisa; Wilson, Rebecca; Angkustsiri, Kathleen; Simon, Tony J.; Tartaglia, Nicole
Other Names:
Gravholt Claus H. guestEditor.; Tartaglia Nicole guestEditor.; Disteche Christine guestEditor.
Journal:
American journal of medical genetics
Issue:
Volume 184:Issue 2(2020)
Page Start:
456
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

5. Expanding the phenotypic and molecular spectrum of NFS1‐related disorders that cause functional deficiencies in mitochondrial and cytosolic iron–sulfur cluster containing enzymes. Issue 3 (19th January 2022)

Authors:
Yang, Jennifer H.; Friederich, Marisa W.; Ellsworth, Katarzyna A.; Frederick, Aliya; Foreman, Emily; Malicki, Denise; Dimmock, David; Lenberg, Jerica; Prasad, Chitra; Yu, Andrea C.; Anthony Rupar, C.; Hegele, Robert A.; Manickam, Kandamurugu; Koboldt, Daniel C.; Crist, Erin; Choi, Samantha S.; Fa...
Journal:
Human mutation
Issue:
Volume 43:Issue 3(2022)
Page Start:
305
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

6. Further delineation of the CWC27‐associated spliceosomeopathy: Case report and review of the literature. Issue 5 (31st January 2023)

Authors:
Yassin, Shaden H.; Henderson, Riley; Lenberg, Jerica; Murillo, Viridiana; Murdock, David R.; Friedman, Jennifer; Jones, Marilyn C.; Wigby, Kristen; Borooah, Shyamanga
Journal:
American journal of medical genetics
Issue:
Volume 191:Issue 5(2023)
Page Start:
1378
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

7. Gastrointestinal disorders in Curry–Jones syndrome: Clinical and molecular insights from an affected newborn. Issue 6 (6th April 2017)

Authors:
Wigby, Kristen; Twigg, Stephen R. F.; Broderick, Ryan; Davenport, Katherine P.; Wilkie, Andrew O. M.; Bickler, Stephen W.; Jones, Marilyn C.
Journal:
American journal of medical genetics
Issue:
Volume 173:Issue 6(2017)
Page Start:
1586
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

8. Insights into the perinatal phenotype of Kabuki syndrome in infants identified by genome‐wide sequencing. Issue 4 (18th January 2023)

Authors:
Wigby, Kristen; Hammer, Monia; Tokita, Mari; Patel, Priyanka; Jones, Marilyn C.; Larson, Austin; Bartolomei, Frances Velez; Dykzeul, Natalie; Slavotinek, Anne; Yip, Tiffany; Bandres‐Ciga, Sara; Simpson, Brittany N.; Suhrie, Kristen; Shankar, Suma; Veith, Regan; Bragg, Jennifer; Powell, Cynthia; K...
Journal:
American journal of medical genetics
Issue:
Volume 191:Issue 4(2023)
Page Start:
930
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗