Concepedia

Ludmila Matyakhina

LM

Statistics

Publications

25

Citations

3.2K

H-Index

22

Active since

2002

Affiliations

National Institutes of Health(Current)

Eunice Kennedy Shriver National Institute of Child Health and Human Development

Health and Human Development (2HD) Research Network

National Institute of Child Health

National Institute of Child Health

Ludmila Matyakhina is an author at National Institutes of Health specializing in genetics, life sciences, and molecular genetics.

Publications per year

2002–2022

25

Publications

25

Clinical and molecular genetics of patients with the Carney–Stratakis syndrome and germline mutations of the genes coding for the succinate dehydrogenase subunits SDHB, SDHC, and SDHD

Barbara Pasini, Sarah R. McWhinney, Thalia Bei et al. · European Journal of Human Genetics · 2007 · 487 citations

, , +10

A cross-disorder dosage sensitivity map of the human genome

Ryan L. Collins, Joseph Glessner, Eleonora Porcu et al. · Cell · 2022 · 360 citations · Full text

, , +7

A genome-wide scan identifies mutations in the gene encoding phosphodiesterase 11A4 (PDE11A) in individuals with adrenocortical hyperplasia

Anélia Horvath, Sosipatros A. Boikos, Christoforos Giatzakis et al. · Nature Genetics · 2006 · 346 citations

, , +12

Molecular and functional analysis of PRKAR1A and its locus (17q22-24) in sporadic adrenocortical tumors: 17q losses, somatic mutations, and protein kinase A expression and activity.

Jérôme Bertherat, Lionel Groussin, Fabiano Sandrini et al. · PubMed · 2003 · 253 citations

, , +17

A Mouse Model for the Carney Complex Tumor Syndrome Develops Neoplasia in Cyclic AMP–Responsive Tissues

Lawrence S. Kirschner, Donna F. Kusewitt, Ludmila Matyakhina et al. · Cancer Research · 2005 · 172 citations

, , +14

1–5 of 25