D
Danica Novacic
Researcher at National Institutes of Health
Publications - 6
Citations - 516
Danica Novacic is an academic researcher from National Institutes of Health. The author has contributed to research in topics: Missense mutation & Exome. The author has an hindex of 4, co-authored 5 publications receiving 152 citations.
Papers
More filters
Journal ArticleDOI
Somatic Mutations in UBA1 and Severe Adult-Onset Autoinflammatory Disease.
David B. Beck,Marcela A. Ferrada,Keith A. Sikora,Amanda K. Ombrello,Jason C. Collins,Wuhong Pei,Nicholas Balanda,Daron L. Ross,Daniela Ospina Cardona,Zhijie Wu,Bhavisha A Patel,Kalpana Manthiram,Emma M. Groarke,Fernanda Gutierrez-Rodrigues,Patrycja Hoffmann,Sofia Rosenzweig,Shuichiro Nakabo,Laura W. Dillon,Christopher S. Hourigan,Wanxia L. Tsai,Sarthak Gupta,Carmelo Carmona-Rivera,Anthony J. Asmar,Lisha Xu,Hirotsugu Oda,Wendy Goodspeed,Karyl S. Barron,Michele Nehrebecky,Anne Jones,Ryan S. Laird,Natalie Deuitch,Dorota Rowczenio,Emily Rominger,Kristina V. Wells,Chyi-Chia Richard Lee,Weixin Wang,Megan Trick,James C. Mullikin,Gustaf Wigerblad,Stephen R. Brooks,Stefania Dell'Orso,Zuoming Deng,Jae Jin Chae,Alina Dulau-Florea,May Christine V. Malicdan,Danica Novacic,Robert A. Colbert,Mariana J. Kaplan,Massimo Gadina,Sinisa Savic,Helen J. Lachmann,Mones Abu-Asab,Benjamin D. Solomon,Kyle Retterer,William A. Gahl,Shawn M. Burgess,Ivona Aksentijevich,Neal S. Young,Katherine R. Calvo,Achim Werner,Daniel L. Kastner,Peter C. Grayson +61 more
TL;DR: Using a genotype-driven approach, this disorder is identified that connects seemingly unrelated adult-onset inflammatory syndromes and is named the VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome.
Journal ArticleDOI
De Novo Missense Variants in TRAF7 Cause Developmental Delay, Congenital Anomalies, and Dysmorphic Features
Mari Tokita,Chun-An Chen,Chun-An Chen,David Chitayat,Ellen Macnamara,Jill A. Rosenfeld,Neil A. Hanchard,Neil A. Hanchard,Andrea M. Lewis,Andrea M. Lewis,Chester W. Brown,Chester W. Brown,Ronit Marom,Ronit Marom,Yunru Shao,Yunru Shao,Danica Novacic,Lynne A. Wolfe,Colleen E. Wahl,Cynthia J. Tifft,Camilo Toro,Jonathan A. Bernstein,Caitlin L. Hale,Julia Silver,Louanne Hudgins,Amitha Ananth,Andrea Hanson-Kahn,Andrea Hanson-Kahn,Shirley Shuster,Pilar L. Magoulas,Pilar L. Magoulas,Vipulkumar Patel,Wenmiao Zhu,Stella Chen,Yanjun Jiang,Pengfei Liu,Pengfei Liu,Christine M. Eng,Christine M. Eng,Dominyka Batkovskyte,Alberto di Ronza,Marco Sardiello,Brendan Lee,Christian P. Schaaf,Yaping Yang,Yaping Yang,Xia Wang,Xia Wang +47 more
TL;DR: The findings suggest that missense mutations in TRAf7 are associated with a multisystem disorder and provide evidence of a role for TRAF7 in human development and suggest that missing amino acids in the protein are located in key functional domains.
Journal ArticleDOI
SGLT2 Inhibitors for Treatment of Refractory Hypomagnesemia: A Case Report of 3 Patients.
TL;DR: Dramatic improvement in serum magnesium levels and associated symptoms after initiating SGLT2 inhibitor therapy in 3 patients with refractory hypomagnesemia and diabetes is described, demonstrating a new tool in this challenging clinical disorder.
Journal ArticleDOI
ALPK1 missense pathogenic variant in five families leads to ROSAH syndrome, an ocular multisystem autosomal dominant disorder.
Lloyd B. Williams,Asif Javed,Asif Javed,Amin Sabri,Denise J. Morgan,Chad D. Huff,Chad D. Huff,John R. Grigg,John R. Grigg,Xiu Ting Heng,Alexis Jiaying Khng,Iris H.I.M. Hollink,Margaux A. Morrison,Leah A. Owen,Katherine Anderson,Krista Kinard,Rebecca Greenlees,Danica Novacic,H. Nida Sen,Wadih M. Zein,George M. Rodgers,Albert T. Vitale,Neena B. Haider,Axel M. Hillmer,Pauline C. Ng,Shankaracharya,Anson Cheng,Linda Zheng,Mark C Gillies,Marjon van Slegtenhorst,P. Martin van Hagen,Tom O. A. R. Missotten,Gary L. Farley,Michael Polo,James Malatack,Julie Curtin,Frank Martin,Susan Arbuckle,Stephen I. Alexander,Megan Chircop,Sonia Davila,Kathleen B. Digre,Robyn V. Jamieson,Robyn V. Jamieson,Robyn V. Jamieson,Margaret M. DeAngelis +45 more
TL;DR: The heterozygous missense variant in the ɑ-kinase gene, ALPK1, was found and segregated with disease in all five families, leading to ROSAH syndrome, an autosomal dominant ocular systemic disorder.
Journal ArticleDOI
Case report: extreme coronary calcifications and hypomagnesemia in a patient with a 17q12 deletion involving HNF1B.
Howard J. Li,Howard J. Li,Catherine Groden,Melanie P. Hoenig,Melanie P. Hoenig,Evan C. Ray,Carlos Ferreira,W.A. Gahl,Danica Novacic +8 more
TL;DR: Several physiologic mechanisms and a review of literature are described to support the expansion of the 17q12 deletion syndrome to include vascular calcification, particularly if hypomagnesemia and hyperparathyroidism are prevalent.