Publications by authors named "Dimartino Clemantine"

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PPA2-associated sudden cardiac death: extending the clinical and allelic spectrum in 20 new families.
Anne Guimier, Melanie T Achleitner, Anne Moreau de Bellaing, Matthew Edwards, Loïc de Pontual

Genet Med· April 2022

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2D and 3D Human Induced Pluripotent Stem Cell-Based Models to Dissect Primary Cilium Involvement during Neocortical Development.
Lucile Boutaud, Marie Michael, Céline Banal, Damelys Calderon, Sarah Farcy

J Vis Exp· March 2022

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A novel intronic variant in PIGB in Acrofrontofacionasal dysostosis type 1 patients expands the spectrum of phenotypes associated with GPI biosynthesis defects.
Eleonora Palagano, Christopher T Gordon, Paolo Uva, Dario Strina, Clémantine Dimartino

Bone· December 2021

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PPA2-associated sudden cardiac death: extending the clinical and allelic spectrum in 20 new families.
Anne Guimier, Melanie T Achleitner, Anne Moreau de Bellaing, Matthew Edwards, Loïc de Pontual

Genet Med· December 2021

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Heterozygous loss of WBP11 function causes multiple congenital defects in humans and mice.
Ella M M A Martin, Annabelle Enriquez, Duncan B Sparrow, David T Humphreys, Aideen M McInerney-Leo

Hum Mol Genet· December 2020

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Generation of two induced pluripotent stem cell lines IMAGINi004-A and IMAGINi005-A from healthy donors.
Eddy Quelennec, Celine Banal, Matthieu Hamlin, Dimartino Clémantine, Marie Michael

Stem Cell Res· October 2020

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Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7.
Laura Castilla-Vallmanya, Kaja K Selmer, Clémantine Dimartino, Raquel Rabionet, Bernardo Blanco-Sánchez

Genet Med· July 2020

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MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis.
Christopher C Y Mak, Dan Doherty, Angela E Lin, Nancy Vegas, Megan T Cho

Brain· January 2020

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ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder.
Raphael Carapito, Ekaterina L Ivanova, Aurore Morlon, Linyan Meng, Anne Molitor

Am J Hum Genet· January 2020

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ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder.
Raphael Carapito, Ekaterina L Ivanova, Aurore Morlon, Linyan Meng, Anne Molitor

Am J Hum Genet· February 2019

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