Shalini N. Jhangiani (Shalini N Jhangiani, Shalini Jhangiani)

Publication Activity (10 Years)

Years Active: 2018-2022
Publications (10 Years): 4

Top Topics

Transcription Factor

Congenital Heart Disease

Top Venues

Science (New York, N.Y.)

Journal of clinical research in pediatric endocrinology

Acta cardiologica

This page only lists publications with an associated author ORCID identifier.

Publications

Varuna Chander, Medhat Mahmoud, Jianhong Hu, Zain Dardas, Christopher M Grochowski, Moez Dawood, Michael M Khayat, He Li, Shoudong Li, Shalini N. Jhangiani, Viktoriya Korchina, Hua Shen, George Weissenberger, Qingchang Meng, Marie-Claude Gingras, Donna M Muzny, Harsha Vardhan Doddapaneni, Jennifer E Posey, James R. Lupski, Aniko Sabo, David R Murdock, Fritz J Sedlazeck, Richard A Gibbs
Long read sequencing and expression studies of AHDC1 deletions in Xia-Gibbs syndrome reveal a novel genetic regulatory mechanism. Human mutation (2022)
Sarah A Cook, William A Comrie, Maria Cecilia Poli, Morgan N Similuk, Andrew J Oler, Aiman J Faruqi, Douglas B Kuhns, Sheng Yang, Alexander Vargas-Hernández, Alexandre F Carisey, Benjamin Fournier, D Eric Anderson, Susan Price, Margery G Smelkinson, Wadih Abou Chahla, Lisa Forbes Satter, Emily M Mace, Tram N Cao, Zeynep C Akdemir, Shalini N. Jhangiani, Donna M Muzny, Richard A Gibbs, James R. Lupski, Jordan S Orange, Geoffrey D E Cuvelier, Moza Al Hassani, Nawal Al Kaabi, Zain Al Yafei, Soma Jyonouchi, Nikita Raje, Jason W Caldwell, Yanping Huang, Janis K Burkhardt, Sylvain Latour, Baoyu Chen, Gehad ElGhazali, V Koneti Rao, Ivan K Chinn, Michael J Lenardo
HEM1 deficiency disrupts mTORC2 and F-actin control in inherited immunodysregulatory disease. Science (New York, N.Y.) 369 (6500) (2020)
Tomas Robyns, Rik Willems, Johan Van Cleemput, Shalini N. Jhangiani, Donna M Muzny, Richard Gibbs, James R. Lupski, Jeroen Breckpot, Koenraad Devriendt, Anniek Corveleyn
Whole exome sequencing in a large pedigree with DCM identifies a novel mutation in RBM20. Acta cardiologica 75 (8) (2019)
Joanna Oświęcimska, Mateusz Dawidziuk, Tomasz Gambin, Katarzyna Ziora, Marta Marek, Sylwia Rzonca-Niewczas, D. Lys Guilbride, Shalini N. Jhangiani, Anna Obuchowicz, Alicja Sikora, James R. Lupski, Wojciech Wiszniewski, Paweł Gawliński
A Patient with Berardinelli-Seip Syndrome, Novel AGPAT2 Splicesite Mutation and Concomitant Development of Non-diabetic Polyneuropathy Journal of clinical research in pediatric endocrinology 11 (3) (2018)