Annick Raas‐Rothschild

Identification of the gene causing mucolipidosis type IV

Ruth Bargal, Nili Avidan, Edna Ben‐Asher et al. · Nature Genetics · 2000 · 398 citations

Disease Mechanism, Pathogenesis, Pathology +4

Identification of the gene that, when mutated, causes the human obesity syndrome BBS4

Kirk Mykytyn, Terry A. Braun, Rivka Carmi et al. · Nature Genetics · 2001 · 268 citations

Obesity, Metabolic Syndrome, Metabolic Disorder +8

Adaptor Protein Complex 4 Deficiency Causes Severe Autosomal-Recessive Intellectual Disability, Progressive Spastic Paraplegia, Shy Character, and Short Stature

Rami Abou Jamra, Orianne Philippe, Annick Raas‐Rothschild et al. · The American Journal of Human Genetics · 2011 · 236 citations · Full text

Down Syndrome, Intellectual Impairment, Mendelian Disorder +14

Mucolipidosis II is caused by mutations in GNPTA encoding the α/β GlcNAc-1-phosphotransferase

Stephan Tiede, Stephan Storch, Torben Lübke et al. · Nature Medicine · 2005 · 209 citations · Full text

Signal Transduction, α/β Glcnac-1-phosphotransferase, Disease Mechanism +10

Molecular basis of variant pseudo-Hurler polydystrophy (mucolipidosis IIIC)

Annick Raas‐Rothschild, Valérie Cormier‐Daire, Ming Bao et al. · Journal of Clinical Investigation · 2000 · 198 citations · Full text