Gaurav V Harlalka (Gaurav Harlalka)

Publication Activity (10 Years)

Years Active: 2022-2022
Publications (10 Years): 3

Top Topics

Signaling Pathway

Cell Cycle Arrest

Duchenne Muscular Dystrophy

Top Venues

NPJ genomic medicine

Proceedings of the National Academy of Sciences of the United States of America

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

Publications

Lettie E Rawlins, Hashem Almousa, Shazia Khan, Stephan C Collins, Miroslav P Milev, Joseph S Leslie, Djenann Saint-Dic, Valeed Khan, Ana Maria Hincapie, Jacob O Day, Lucy McGavin, Christine Rowley, Gaurav V Harlalka, Valerie E Vancollie, Wasim Ahmad, Christopher J Lelliott, Asma Gul, Binnaz Yalcin, Andrew H Crosby, Michael Sacher, Andrew H Crosby
Biallelic variants in TRAPPC10 cause a microcephalic TRAPPopathy disorder in humans and mice. PLoS genetics 18 (3) (2022)
Siying Lin, Aida Sanchez-Bretaño, Joseph S Leslie, Katie B Williams, Helena Lee, N Simon Thomas, Jonathan Callaway, James Deline, J Arjuna Ratnayaka, Diana Baralle, Melanie A Schmitt, Chelsea S Norman, Sheri Hammond, Gaurav V Harlalka, Sarah Ennis, Harold E Cross, Olivia Wenger, Andrew H Crosby, Andrew H Crosby, James E Self
Evidence that the Ser192Tyr/Arg402Gln in cis Tyrosinase gene haplotype is a disease-causing allele in oculocutaneous albinism type 1B (OCA1B). NPJ genomic medicine 7 (1) (2022)
Güney Bademci, María Lachgar, Mangesh Deokar, Mohammad Faraz Zafeer, Clemer Abad, Muzeyyen Yildirim Baylan, Neil J Ingham, Jing Chen, Claire J Sineni, Nirmal Vadgama, Ioannis Karakikes, Shengru Guo, Duygu Duman, Nitu Singh, Gaurav V Harlalka, Shirish P Jain, Barry A Chioza, Katherina Walz, Karen P Steel, Jamal Nasir, Mustafa Tekin
Mutations in MINAR2 encoding membrane integral NOTCH2-associated receptor 2 cause deafness in humans and mice. Proceedings of the National Academy of Sciences of the United States of America 119 (26) (2022)