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Author/Creator del Gaudio, Daniela

2. Feasibility and limitations of cultured skin fibroblasts for germline genetic testing in hematologic disorders. Issue 7 (14th April 2022)

Authors:
DeRoin, Lia; Cavalcante de Andrade Silva, Marcela; Petras, Kristin; Arndt, Kelly; Phillips, Nathaniel; Wanjari, Pankhuri; Subramanian, Hari Prasanna; Montes, David; McElherne, James; Theissen, Megan; Briese, Renee; Das, Soma; Godley, Lucy A.; Segal, Jeremy; del Gaudio, Daniela; Fitzpatrick, Carri...
Journal:
Human mutation
Issue:
Volume 43:Issue 7(2022)
Page Start:
950
Record Type:
Journal Article
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3. FOXP3 mutations causing early‐onset insulin‐requiring diabetes but without other features of immune dysregulation, polyendocrinopathy, enteropathy, X‐linked syndrome. Issue 3 (29th November 2017)

Authors:
Hwang, Jessica L; Park, Soo‐Young; Ye, Honggang; Sanyoura, May; Pastore, Ashley N; Carmody, David; del Gaudio, Daniela; Wilson, Janna F; Hanis, Craig L; Liu, Xiaoming; Atzmon, Gil; Glaser, Benjamin; Philipson, Louis H; Greeley, Siri Atma W
Journal:
Pediatric diabetes
Issue:
Volume 19:Issue 3(2018)
Page Start:
388
Record Type:
Journal Article
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4. Further delineation of a recognizable type of syndromic short stature caused by biallelic SEMA3A loss‐of‐function variants. Issue 3 (23rd December 2020)

Authors:
Gileta, Alexander F.; Helgeson, Maria L.; Leonard, Jacqueline M. M.; Pyle, Louise C.; Subramanian, Hari P.; Arndt, Kelly; Hawkes, Colin P.; del Gaudio, Daniela
Journal:
American journal of medical genetics
Issue:
Volume 185:Issue 3(2021)
Page Start:
889
Record Type:
Journal Article
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6. Keutel syndrome: Report of two novel MGP mutations and discussion of clinical overlap with arylsulfatase E deficiency and relapsing polychondritis. Issue 4 (23rd January 2014)

Authors:
Weaver, K. Nicole; El Hallek, Moussa; Hopkin, Robert J.; Sund, Kristen L.; Henrickson, Michael; del Gaudio, Daniela; Yuksel, Adnan; Acar, Gül Ozbilen; Bober, Michael B.; Kim, Jinoh; Boyadjiev, Simeon A.
Journal:
American journal of medical genetics
Issue:
Volume 164:Issue 4(2014.)
Page Start:
1062
Record Type:
Journal Article
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7. Molecular characterization of HDAC8 deletions in individuals with atypical Cornelia de Lange syndrome. Issue 3 (March 2018)

Authors:
Helgeson, Maria; Keller-Ramey, Jennifer; Knight Johnson, Amy; Lee, Jennifer A.; Magner, Daniel B.; Deml, Brett; Deml, Jacea; Hu, Ying-Ying; Li, Zejuan; Donato, Kirsten; Das, Soma; Laframboise, Rachel; Tremblay, Sandra; Krantz, Ian; Noon, Sarah; Hoganson, George; Burton, Jennifer; Schaaf, Christia...
Journal:
Journal of human genetics
Issue:
Volume 63:Issue 3(2018)
Page Start:
349
Record Type:
Journal Article
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9. Update of variants identified in the pancreatic β‐cell KATP channel genes KCNJ11 and ABCC8 in individuals with congenital hyperinsulinism and diabetes. Issue 5 (17th February 2020)

Authors:
De Franco, Elisa; Saint‐Martin, Cécile; Brusgaard, Klaus; Knight Johnson, Amy E.; Aguilar‐Bryan, Lydia; Bowman, Pamela; Arnoux, Jean‐Baptiste; Larsen, Annette Rønholt; Sanyoura, May; Greeley, Siri Atma W.; Calzada‐León, Raúl; Harman, Bradley; Houghton, Jayne A. L.; Nishimura‐Meguro, Elisa; Laver,...
Journal:
Human mutation
Issue:
Volume 41:Issue 5(2020)
Page Start:
884
Record Type:
Journal Article
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