María Lachgar (María Lachgar-Ruiz)

Publication Activity (10 Years)

Years Active: 2021-2023
Publications (10 Years): 3

Top Topics

Intellectual Disability

Top Venues

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

Disease models & mechanisms

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

Publications

María Lachgar, Matias Morín, Elisa Martelletti, Neil J Ingham, Lorenzo Preite, Morag A Lewis, Luciana Santos Serrão de Castro, Karen P Steel, Miguel Angel Moreno-Pelayo
Insights into the pathophysiology of DFNA44 hearing loss associated with CCDC50 frameshift variants. Disease models & mechanisms (2023)
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)
María Lachgar, Matias Morín, Manuela Villamar, Ignacio Del Castillo, Miguel Angel Moreno-Pelayo
A Novel Truncating Mutation in HOMER2 Causes Nonsyndromic Progressive DFNA68 Hearing Loss in a Spanish Family. Genes 12 (3) (2021)