Publications and ressources

Heterozygous ANKRD17 loss-of-function variants cause a syndrome with intellectual disability, speech delay, and dysmorphism.

Stanislas Lyonnet, Jeanne Amiel, Chris Gordon

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Dysregulation of the NRG1/ERBB pathway causes a developmental disorder with gastrointestinal dysmotility in humans.

Thuy-Linh Le, Anna Pelet, Patrick Nitschké, Stanislas Lyonnet, Jeanne Amiel, Nadège Bondurand, Chris Gordon

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Impaired eIF5A function causes a Mendelian disorder that is partially rescued in model systems by spermidine.

Jeanne Amiel, Chris Gordon

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Generation of an iPSC line (IMAGINi022-A) from a patient carrying a SOX10 missense mutation and presenting with deafness, depigmentation and progressive neurological impairment.

Céline BANAL, Eddy Quelennec, Jeanne Amiel, Sandrine Marlin, Véronique Pingault, Nathalie Lefort, Nadège Bondurand

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Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7.

Clémantine Dimartino, Mélanie Parisot, Patrick Nitschké, Véronique Pingault, Arnold Munnich, Valérie Cormier-Daire, Stanislas Lyonnet, Jeanne Amiel, Chris Gordon

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Bi-allelic Variations of SMO in Humans Cause a Broad Spectrum of Developmental Anomalies Due to Abnormal Hedgehog Signaling.

Sophie Thomas, Chris Gordon

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ADAR1 mediated regulation of neural crest derived melanocytes and Schwann cell development.

Lisa Zerad, Mélanie Parisot, Jeanne Amiel, Véronique Pingault, Nadège Bondurand

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

Nancy Vegas, Clémantine Dimartino, Stanislas Lyonnet, Valérie Cormier-Daire, Jeanne Amiel, Chris Gordon

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PAICS deficiency, a new defect of de novo purine synthesis resulting in multiple congenital anomalies and fatal outcome.

Stanislas Lyonnet, Anna Pelet

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

Jeanne Amiel, Nancy Vegas, Chris Gordon, Clémantine Dimartino, Stanislas Lyonnet

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Cilia in hereditary cerebral anomalies.

Alexandre Benmerah

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Mutations in TUBB4B Cause a Distinctive Sensorineural Disease.

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

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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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De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development.

Jeanne Amiel, Stanislas Lyonnet, Patrick Nitschké, Chris Gordon

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Differentiation of Mouse Enteric Nervous System Progenitor Cells Is Controlled by Endothelin 3 and Requires Regulation of Ednrb by SOX10 and ZEB2.

Nadège Bondurand, Véronique Pingault

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