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Author/Creator Vaccaro, Courtney

1. A mutational hotspot in AMOTL1 defines a new syndrome of orofacial clefting, cardiac anomalies, and tall stature. Issue 5 (7th February 2023)

Authors:
Strong, Alanna; Rao, Soumya; von Hardenberg, Sandra; Li, Dong; Cox, Liza L.; Lee, Paul C.; Zhang, Li Q.; Awotoye, Waheed; Diamond, Tamir; Gold, Jessica; Gooch, Catherine; Gowans, Lord Jephthah Joojo; Hakonarson, Hakon; Hing, Anne; Loomes, Kathleen; Martin, Nicole; Marazita, Mary L.; Mononen, Tarj...
Journal:
American journal of medical genetics
Issue:
Volume 191:Issue 5(2023)
Page Start:
1227
Record Type:
Journal Article
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2. A new syndrome of moyamoya disease, kidney dysplasia, aminotransferase elevation, and skin disease associated with de novo variants in RNF213. Issue 7 (7th May 2021)

Authors:
Strong, Alanna; O'Grady, Gina; Shih, Evelyn; Bishop, Jonathan R.; Loomes, Kathleen; Diamond, Tamir; Hartung, Erum A.; Wong, William; Cuddapah, Sanmati; Cahill, Anne Marie; Hou, Cuiping; Slater, Diana; Vaccaro, Courtney; Watson, Deborah; Li, Dong; Hakonarson, Hakon
Journal:
American journal of medical genetics
Issue:
Volume 185:Issue 7(2021)
Page Start:
2168
Record Type:
Journal Article
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3. A novel MBTPS2 variant associated with BRESHECK syndrome impairs sterol‐regulated transcription and the endoplasmic reticulum stress response. Issue 2 (15th October 2021)

Authors:
Strong, Alanna; March, Michael E.; Cardinale, Christopher J.; Kim, Sophia E.; Merves, Jamie; Whitworth, Hilary; Raffini, Leslie; Larosa, Christopher; Copelovitch, Lawrence; Hou, Cuiping; Slater, Diana; Vaccaro, Courtney; Watson, Deborah; Zackai, Elaine H.; Billheimer, Jeffrey; Hakonarson, Hakon
Journal:
American journal of medical genetics
Issue:
Volume 188:Issue 2(2022)
Page Start:
463
Record Type:
Journal Article
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4. Expanding the genetic landscape of oral‐facial‐digital syndrome with two novel genes. Issue 8 (15th June 2021)

Authors:
Strong, Alanna; Simone, Laurie; Krentz, Anthony; Vaccaro, Courtney; Watson, Deborah; Ron, Hayley; Kalish, Jennifer M.; Pedro, Helio F.; Zackai, Elaine H.; Hakonarson, Hakon
Journal:
American journal of medical genetics
Issue:
Volume 185:Issue 8(2021)
Page Start:
2409
Record Type:
Journal Article
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5. Genetic analysis for type 1 diabetes genes in juvenile dermatomyositis unveils genetic disease overlap. (16th February 2022)

Authors:
Qu, Hui-Qi; Qu, Jingchun; Vaccaro, Courtney; Chang, Xiao; Mentch, Frank; Li, Jin; Mafra, Fernanda; Nguyen, Kenny; Gonzalez, Michael; March, Michael; Pellegrino, Renata; Glessner, Joseph; Sleiman, Patrick; Kao, Charlly; Hakonarson, Hakon
Journal:
Rheumatology
Issue:
Volume 61:Number 8(2022)
Page Start:
3497
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗