Publications and ressources

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

Vincent Cantagrel

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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

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

Corinne Antignac, Géraldine Mollet, Christelle Arrondel, Olivia Boyer

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

Cécile Jeanpierre

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

Sandrine Marlin

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

Floriane PETIT, Stanislas Lyonnet, Agnès Rötig, Sandrine Marlin

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Recurrent rhinovirus infections in a child with inherited MDA5 deficiency.

Jean-Laurent CASANOVA

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WDR81 mutations cause extreme microcephaly and impair mitotic progression in human fibroblasts and Drosophila neural stem cells.

Nadia Bahi-Buisson, Sophie Thomas, Matias Simons, Vincent Cantagrel, Meriem Garfa-Traoré , Patrick Nitschké, Tania Attié-Bitach

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Tangential migration of glutamatergic neurons and cortical patterning during development: Lessons from Cajal-Retzius cells.

Alessandra Pierani

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Mutations in DNM1L, as in OPA1, result in dominant optic atrophy despite opposite effects on mitochondrial fusion and fission.

Nathalie Boddaert, Marlène Rio, Jean-Michel Rozet

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Neutropenia in Patients with Common Variable Immunodeficiency: a Rare Event Associated with Severe Outcome.

Aurore POULIET, Patrick Nitschké, Frédéric Rieux-Laucat

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Mutations in DNM1L, as in OPA1, result in dominant optic atrophy despite opposite effects on mitochondrial fusion and fission.

Nathalie Boddaert, Marlène Rio, Jean-Michel Rozet

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Population Pharmacokinetic Modeling of Tenofovir in the Genital Tract of Male HIV-Infected Patients.

Aurélie Cobat

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Intrinsic antiproliferative activity of the innate sensor STING in T lymphocytes.

Frédéric Rieux-Laucat

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Mutations in BOREALIN cause thyroid dysgenesis.

Michel Polak, Aurore Carre, Athanasia Stoupa, Dulanjalee Kariyawasam

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