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Author/Creator Sobreira, Nara L.

1. Analysis of an NGS retinopathy panel detects chromosome 1 uniparental isodisomy in a patient with RPE65-related leber congenital amaurosis. (3rd September 2021)

Authors:
Motta, Fabiana Louise; Filippelli-Silva, Rafael; Kitajima, Joao Paulo; Batista, Denise A.; Wohler, Elizabeth S.; Sobreira, Nara L.; Martin, Renan Paulo; Ferraz Sallum, Juliana Maria
Journal:
Ophthalmic genetics
Issue:
Volume 42:Number 5(2021)
Page Start:
553
Record Type:
Journal Article
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5. Multilevel analyses of SCN5A mutations in arrhythmogenic right ventricular dysplasia/cardiomyopathy suggest non-canonical mechanisms for disease pathogenesis. Issue 1 (9th January 2017)

Authors:
te Riele, Anneline S.J.M.; Agullo-Pascual, Esperanza; James, Cynthia A.; Leo-Macias, Alejandra; Cerrone, Marina; Zhang, Mingliang; Lin, Xianming; Lin, Bin; Rothenberg, Eli; Sobreira, Nara L.; Amat-Alarcon, Nuria; Marsman, Roos F.; Murray, Brittney; Tichnell, Crystal; van der Heijden, Jeroen F.; D...
Journal:
Cardiovascular research
Issue:
Volume 113: Issue 1(2017)
Page Start:
102
Record Type:
Journal Article
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6. The Matchmaker Exchange: A Platform for Rare Disease Gene Discovery. Issue 10 (17th September 2015)

Authors:
Philippakis, Anthony A.; Azzariti, Danielle R.; Beltran, Sergi; Brookes, Anthony J.; Brownstein, Catherine A.; Brudno, Michael; Brunner, Han G.; Buske, Orion J.; Carey, Knox; Doll, Cassie; Dumitriu, Sergiu; Dyke, Stephanie O.M.; den Dunnen, Johan T.; Firth, Helen V.; Gibbs, Richard A.; Girdea, Ma...
Journal:
Human mutation
Issue:
Volume 36:Issue 10(2015:Oct.)
Page Start:
915
Record Type:
Journal Article
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7. Truncating mutations in the last exon of NOTCH3 cause lateral meningocele syndrome. (13th November 2014)

Authors:
Gripp, Karen W.; Robbins, Katherine M.; Sobreira, Nara L.; Witmer, P. Dane; Bird, Lynne M.; Avela, Kristiina; Makitie, Outi; Alves, Daniela; Hogue, Jacob S.; Zackai, Elaine H.; Doheny, Kimberly F.; Stabley, Deborah L.; Sol‐Church, Katia
Journal:
American journal of medical genetics
Issue:
Volume 167:Number 2(2015:Feb.)
Page Start:
271
Record Type:
Journal Article
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8. Typical achondroplasia secondary to a unique insertional variant of FGFR3 with in vitro demonstration of its effect on FGFR3 function. Issue 3 (2nd December 2020)

Authors:
Meyer, April N.; Modaff, Peggy; Wang, Clark G.; Wohler, Elizabeth; Sobreira, Nara L.; Donoghue, Daniel J.; Pauli, Richard M.
Journal:
American journal of medical genetics
Issue:
Volume 185:Issue 3(2021)
Page Start:
798
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗