Stanislas Lyonnet

Lamin A Truncation in Hutchinson-Gilford Progeria

Annachiara De Sandre‐Giovannoli, Rafaëlle Bernard, Pierre Cau et al. · Science · 2003 · 1.4K citations

Biology, Unicellular Organism, Engineering +8

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

Newbury-Ecob Ra, David I. Wilson, T Strachan et al. · Nature Genetics · 1997 · 925 citations

Developmental Anomaly, Genetic Disorder, Genetics +6

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

Isabelle Janoueix‐Lerosey, Delphine Lequin, Laurence Brugières et al. · Nature · 2008 · 887 citations

Somatic Variant, Receptor Tyrosine Kinase, Alk Kinase Receptor +5

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

Jeanne Amiel, Béatrice Laudier, Tania Attié‐Bitach et al. · Nature Genetics · 2003 · 850 citations · Full text

Genetic Disorder, Genetics, Inherited Metabolic Disease +8

SOX10 mutations in patients with Waardenburg-Hirschsprung disease

Véronique Pingault, Nadège Bondurand, Kirsten Kuhlbrodt et al. · Nature Genetics · 1998 · 817 citations

Mendelian Disorder, Genetic Disorder, Medicine +7