Publications and ressources

In utero treatment of congenital cytomegalovirus infection with valacyclovir in a multicenter, open-label, phase II study.

Yves Ville

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A genome wide association study identifies a lncRna as risk factor for pathological inflammatory responses in leprosy.

Alexandre Alcaïs

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Reticular dysgenesis: international survey on clinical presentation, transplantation, and outcome.

Chantal LAGRESLE-PEYROU, Despina Moshous, Alain Fischer, Marina Cavazzana

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APOL1-Mediated Cell Injury Involves Disruption of Conserved Trafficking Processes.

Matias Simons

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Mutations in MDH2, Encoding a Krebs Cycle Enzyme, Cause Early-Onset Severe Encephalopathy.

Agnès Rötig

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Mutations in Complex I Assembly Factor TMEM126B Result in Muscle Weakness and Isolated Complex I Deficiency.

Benedetta RUZZENENTE, Lucas BIANCHI, Metodi METODIEV, Agnès Rötig

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Recessive and Dominant De Novo ITPR1 Mutations Cause Gillespie Syndrome.

Jean-Michel Rozet

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Recessive Mutations in TRMT10C Cause Defects in Mitochondrial RNA Processing and Multiple Respiratory Chain Deficiencies.

Metodi METODIEV, Arnold Munnich, Agnès Rötig

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Mutations in MAPKBP1 Cause Juvenile or Late-Onset Cilia-Independent Nephronophthisis.

Alexandre Benmerah

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Biallelic PPA2 Mutations Cause Sudden Unexpected Cardiac Arrest in Infancy.

Jeanne Amiel, Stanislas Lyonnet, Loïc de Pontual, Damien Bonnet, Patrick Nitschké, Chris Gordon, Anne Guimier

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Biallelic PPA2 Mutations Cause Sudden Unexpected Cardiac Arrest in Infancy.

Agnès Rötig, Stanislas Lyonnet, Jeanne Amiel

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Compound heterozygosity for severe and hypomorphic NDUFS2 mutations cause non-syndromic LHON-like optic neuropathy.

Marlène Rio, Arnold Munnich, Agnès Rötig, Lucas BIANCHI, Jean-Michel Rozet

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Compound heterozygosity for severe and hypomorphic NDUFS2 mutations cause non-syndromic LHON-like optic neuropathy.

Marlène Rio, Arnold Munnich, Agnès Rötig, Lucas BIANCHI, Jean-Michel Rozet

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Improving a full-text search engine: the importance of negation detection and family history context to identify cases in a biomedical data warehouse.

Nicolas Garcelon, Antoine Neuraz, Vincent Benoit

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Achondroplasia: Development, pathogenesis, and therapy.

Laurence Legeai-Mallet

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