Publications and ressources

Mutations in the X-linked ATP6AP2 cause a glycosylation disorder with autophagic defects.

Matias Simons

Source :

Pmid / DOI:

Mutations in TUBB4B Cause a Distinctive Sensorineural Disease.

Meriem Garfa-Traoré , Aurore POULIET, Nathalie Boddaert, Stanislas Lyonnet, Jean-Michel Rozet, Sandrine Marlin

Source :

Pmid / DOI:

Mutations in TUBB4B Cause a Distinctive Sensorineural Disease.

Meriem Garfa-Traoré , Aurore POULIET, Nathalie Boddaert, Stanislas Lyonnet, Jean-Michel Rozet, Sandrine Marlin

Source :

Pmid / DOI:

Mutations in TUBB4B Cause a Distinctive Sensorineural Disease.

Meriem Garfa-Traoré , Aurore POULIET, Nathalie Boddaert, Stanislas Lyonnet, Jean-Michel Rozet, Sandrine Marlin, Isabelle Perrault

Source :

Pmid / DOI:

A predictive model of asymmetric morphogenesis from 3D reconstructions of mouse heart looping dynamics.

Audrey Desgrange, Sigolène Meilhac

Source :

Pmid / DOI:

Targeted Inactivation of Bax Reveals a Subtype-Specific Mechanism of Cajal-Retzius Neuron Death in the Postnatal Cerebral Cortex.

Alessandra Pierani

Source :

Pmid / DOI:

Single-cell analysis identifies cellular markers of the HIV permissive cell.

Antonio Rausell

Source :

Pmid / DOI:

DCDC2 Mutations Cause Neonatal Sclerosing Cholangitis.

Sophie Saunier

Source :

Pmid / DOI:

Utility of whole exome sequencing for the early diagnosis of pediatric-onset cerebellar atrophy associated with developmental delay in an inbred population.

Vincent Cantagrel

Source :

Pmid / DOI:

Mutations in GREB1L Cause Bilateral Kidney Agenesis in Humans and Mice.

Pierre David, Christelle Arrondel, Audrey Desgrange, Patrick Nitschké, Laurence Heidet, Sophie Saunier, Cécile Jeanpierre, Sigolène Meilhac

Source :

Pmid / DOI:

Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly.

Corinne Antignac, Géraldine Mollet, Christelle Arrondel, Olivia Boyer

Source :

Pmid / DOI:

Targeted Exome Sequencing Identifies PBX1 as Involved in Monogenic Congenital Anomalies of the Kidney and Urinary Tract.

Cécile Jeanpierre

Source :

Pmid / DOI:

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

Sandrine Marlin

Source :

Pmid / DOI:

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

Floriane PETIT, Stanislas Lyonnet, Agnès Rötig, Sandrine Marlin

Source :

Pmid / DOI:

Recurrent rhinovirus infections in a child with inherited MDA5 deficiency.

Jean-Laurent CASANOVA

Source :

Pmid / DOI: