<i>AHI1</i> gene mutations cause specific forms of Joubert syndrome–related disorders

Familial agenesis of the cerebellar vermis

Marie Joubert, Jean-Jacques Eisenring, Jennifer Preston et al. · Neurology · 1969 · 649 citations · Full text

Abnormal cerebellar development and axonal decussation due to mutations in AHI1 in Joubert syndrome

Russell J. Ferland, Wafaa Eyaid, Randall V. Collura et al. · Nature Genetics · 2004 · 411 citations · Full text

Developmental Anomaly, Axonal Decussation, Abnormal Cerebellar Development +11

"Joubert Syndrome" Revisited: Key Ocular Motor Signs With Magnetic Resonance Imaging Correlation

Bernard L. Maria, Karin B.N. Hoang, Ronald J. Tusa et al. · Journal of Child Neurology · 1997 · 331 citations

Ocular Disease, Ophthalmology, Joubert Syndrome +12

Mutations in the AHI1 Gene, Encoding Jouberin, Cause Joubert Syndrome with Cortical Polymicrogyria

Tracy Dixon‐Salazar, Jennifer L. Silhavy, Sarah Marsh et al. · The American Journal of Human Genetics · 2004 · 289 citations · Full text

Developmental Biology, Mendelian Disorder, Genetic Disorder +9

The NPHP1 Gene Deletion Associated with Juvenile Nephronophthisis Is Present in a Subset of Individuals with Joubert Syndrome

Melissa A. Parisi, Craig L. Bennett, Melissa Eckert et al. · The American Journal of Human Genetics · 2004 · 255 citations

Developmental Biology, Mendelian Disorder, Joubert Syndrome +5