Concepedia

Marie Gonzalès

MG

Statistics

Publications

47

Citations

4.4K

H-Index

33

Active since

1987

Affiliations

Sorbonne Université(Current)

Inserm

Assistance Publique – Hôpitaux de Paris

Hôpital Necker-Enfants Malades

Hôpital Armand-Trousseau

Marie Gonzalès is an author at Sorbonne Université specializing in genetics, molecular genetics, and human genetics.

Publications per year

1987–2021

47

Publications

47

The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome

Marion Delous, Lekbir Baala, Rémi Salomon et al. · Nature Genetics · 2007 · 493 citations

, , +10

Mutations in genes in the renin-angiotensin system are associated with autosomal recessive renal tubular dysgenesis

Olivier Gribouval, Marie Gonzalès, Thomas J. Neuhaus et al. · Nature Genetics · 2005 · 289 citations

, , +14

Pleiotropic Effects of CEP290 (NPHP6) Mutations Extend to Meckel Syndrome

Lekbir Baala, Sophie Audollent, Jéléna Martinovic et al. · The American Journal of Human Genetics · 2007 · 282 citations · Full text

, , +7

KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes

Audrey Putoux, Sophie Thomas, Karlien L. M. Coene et al. · Nature Genetics · 2011 · 243 citations · Full text

, , +13

Phenotypic spectrum of CHARGE syndrome in fetuses with <i>CHD7</i> truncating mutations correlates with expression during human development

Damien Sanlaville, Heather Etchevers, Marie Gonzalès et al. · Journal of Medical Genetics · 2005 · 239 citations · Full text

, , +16

1–5 of 47