Concepedia

Myriam Oufadem

MO

Statistics

Publications

19

Citations

1.3K

H-Index

18

Active since

2011

Affiliations

Université Paris Cité(Current)

Hôpital Necker-Enfants Malades

Inserm

Assistance Publique – Hôpitaux de Paris

Délégation Paris 5

Myriam Oufadem is an author at Université Paris Cité specializing in genetics, human genetics, and life sciences.

ORCID

Publications per year

2011–2020

19

Publications

19

Germline deletion of the miR-17∼92 cluster causes skeletal and growth defects in humans

Loïc de Pontual, Evelyn Yao, Patrick Callier et al. · Nature Genetics · 2011 · 307 citations · Full text

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De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development

Christopher T. Gordon, Shifeng Xue, Gökhan Yigit et al. · Nature Genetics · 2017 · 135 citations · Full text

, , +8

<i>EFTUD2</i> haploinsufficiency leads to syndromic oesophageal atresia

Christopher T. Gordon, Florence Petit, Myriam Oufadem et al. · Journal of Medical Genetics · 2012 · 98 citations

, , +13

MMP21 is mutated in human heterotaxy and is required for normal left-right asymmetry in vertebrates

Anne Guimier, George C. Gabriel, Fanny Bajolle et al. · Nature Genetics · 2015 · 91 citations

, , +8

FDXR Mutations Cause Sensorial Neuropathies and Expand the Spectrum of Mitochondrial Fe-S-Synthesis Diseases

Antoine Paul, Anthony Drecourt, Floriane Petit et al. · The American Journal of Human Genetics · 2017 · 91 citations · Full text

, , +12

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