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Jeanne Amiel

Paris Descartes University

42

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CHARGE syndrome: a recurrent hotspot of mutations in CHD7 IVS25 analyzed by bioinformatic tools and minigene assays.

2018 European Journal of Human Genetics
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Human Mutation in Endothelin A Receptor Provide an Insight into Structural Rearengement in GPCR

2017
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De novo mutations in CBL causing early-onset paediatric moyamoya angiopathy

2017 Journal of Medical Genetics
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Autonomic dysfunction of glucose homoeostasis in congenital central hypoventilation syndrome

2013 Acta Paediatrica
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Constitutional NRAS mutations are rare among patients with Noonan syndrome or juvenile myelomonocytic leukemia

2012 American Journal of Medical Genetics Part A
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Intragenic CAMTA1 rearrangements cause non-progressive congenital ataxia with or without intellectual disability

2012 Journal of Medical Genetics
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Cis-Regulatory Disruption at the SOX9 Locus as a Cause of Pierre Robin Sequence

2012
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Anomalies de développement et prédisposition aux tumeurs de l’enfant

2010 Archives De Pediatrie
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Epistasis between RET and BBS mutations modulates enteric innervation and causes syndromic Hirschsprung disease

2009 Proceedings of the National Academy of Sciences of the United States of America
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Spectrum of HLXB9 Gene Mutations in Currarino Syndrome and Genotype-Phenotype Correlation

2008 Human Mutation
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