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Stanislas Lyonnet | Researchclopedia

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Stanislas Lyonnet

Hôpital Necker-Enfants Malades ORCID

652

Works

41,620

Citations

98

h-index

375

i10-index

Research Topics

Congenital gastrointestinal and neural anomalies Genomics and Rare Diseases Congenital heart defects research

Affiliations

Délégation Paris 52007–2022

Fundación Juan March2001–2001

Hôpital Necker-Enfants Malades1991–2026

Hudson Institute2017–2017

Inserm1987–2026

Top Works

Lamin A Truncation in Hutchinson-Gilford Progeria

Annachiara De Sandre‐Giovannoli,Rafaëlle Bernard,et al.

20031,454 citations

Genomic variations and chromosomal abnormalities

Genetics and Neurodevelopmental Disorders

Hirschsprung disease, associated syndromes and genetics: a review

Jeanne Amiel,Eileen Sproat-Emison,et al.

20071,198 citations

Holt-Oram syndrome is caused by mutations in TBX5, a member of the Brachyury (T) gene family

Li Qy,Newbury-Ecob Ra,et al.

1997925 citations

Somatic and germline activating mutations of the ALK kinase receptor in neuroblastoma

Isabelle Janoueix‐Lerosey,Delphine Lequin,et al.

2008890 citations

Polyalanine expansion and frameshift mutations of the paired-like homeobox gene PHOX2B in congenital central hypoventilation syndrome

Jeanne Amiel,Béatrice Laudier,et al.

2003854 citations

SOX10 mutations in patients with Waardenburg-Hirschsprung disease

Véronique Pingault,Nadège Bondurand,et al.

1998818 citations

Mutations of the RET proto-oncogene in Hirschsprung's disease

Patrick Edery,Stanislas Lyonnet,et al.

1994755 citations

Targeted therapy in patients with PIK3CA-related overgrowth syndrome

Quitterie Venot,Thomas Blanc,et al.

2018557 citations

Mutation of the endothelin-3 gene in the Waardenburg-Hirschsprung disease (Shah-Waardenburg syndrome)

Patrick Edery,Tania Attié‐Bitach,et al.

1996457 citations