Concepedia

Clémantine Dimartino

CD

5

Publications

198

Citations

5

H-Index

2019

Active since

Affiliations

Assistance Publique – Hôpitaux de Paris(Current)

Inserm

Hôpital Necker-Enfants Malades

Université Paris Cité

Délégation Paris 5

Clémantine Dimartino is an author at Assistance Publique – Hôpitaux de Paris specializing in medicine, molecular diagnostics, and bioinformatics.

Top concepts

Publications per year

2019–2021

5

Publications

5

ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder

Raphaël Carapito, Ekaterina L. Ivanova, Aurore Morlon et al. · The American Journal of Human Genetics · 2019 · 66 citations · Full text

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MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis

Christopher Chun Yu Mak, Dan Doherty, Angela E. Lin et al. · Brain · 2019 · 52 citations · Full text

Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7

Laura Castilla‐Vallmanya, Kaja Kristine Selmer, Clémantine Dimartino et al. · Genetics in Medicine · 2020 · 32 citations · Full text

, , +12

Heterozygous loss of <i>WBP11</i> function causes multiple congenital defects in humans and mice

Ella MMA Martin, Annabelle Enriquez, Duncan B. Sparrow et al. · Human Molecular Genetics · 2020 · 24 citations · Full text

PPA2-associated sudden cardiac death: extending the clinical and allelic spectrum in 20 new families

Anne Guimier, Melanie T. Achleitner, Anne Moreau de Bellaing et al. · Genetics in Medicine · 2021 · 24 citations · Full text

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