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Author/Creator Lenberg, Jerica

1. Consolidation of the clinical and genetic definition of a SOX4-related neurodevelopmental syndrome. Issue 11 (1st March 2022)

Authors:
Angelozzi, Marco; Karvande, Anirudha; Molin, Arnaud N; Ritter, Alyssa L; Leonard, Jacqueline M M; Savatt, Juliann M; Douglass, Kristen; Myers, Scott M; Grippa, Mina; Tolchin, Dara; Zackai, Elaine; Donoghue, Sarah; Hurst, Anna C E; Descartes, Maria; Smith, Kirstin; Velasco, Danita; Schmanski, Andr...
Journal:
Journal of medical genetics
Issue:
Volume 59:Issue 11(2022)
Page Start:
1058
Record Type:
Journal Article
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2. 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
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3. 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
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4. Genotype–phenotype correlation at codon 1740 of SETD2. Issue 9 (24th July 2020)

Authors:
Rabin, Rachel; Radmanesh, Alireza; Glass, Ian A.; Dobyns, William B.; Aldinger, Kimberly A.; Shieh, Joseph T.; Romoser, Shelby; Bombei, Hannah; Dowsett, Leah; Trapane, Pamela; Bernat, John A.; Baker, Janice; Mendelsohn, Nancy J.; Popp, Bernt; Siekmeyer, Manuela; Sorge, Ina; Sansbury, Francis Hugh...
Journal:
American journal of medical genetics
Issue:
Volume 182:Issue 9(2020)
Page Start:
2037
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗