Recurrent CNVs and SNVs at the NPHP1 Locus Contribute Pathogenic Alleles to Bardet-Biedl Syndrome

New criteria for improved diagnosis of Bardet-Biedl syndrome: results of a population survey

Philip L. Beales, Nursel Elçioğlu, Adrian S. Woolf et al. · Journal of Medical Genetics · 1999 · 972 citations · Full text

Medicine, Genetics, Pediatrics +9

Triallelic Inheritance in Bardet-Biedl Syndrome, a Mendelian Recessive Disorder

Nicholas Katsanis, Stephen J. Ansley, José L. Badano et al. · Science · 2001 · 655 citations

Life Sciences, Genetics, Molecular Genetics +17

Mutations in INVS encoding inversin cause nephronophthisis type 2, linking renal cystic disease to the function of primary cilia and left-right axis determination

Edgar A. Otto, Bernhard Schermer, Tomoko Obara et al. · Nature Genetics · 2003 · 642 citations · Full text

Medicine, Genetics, Molecular Genetics +14

Population Analysis of Large Copy Number Variants and Hotspots of Human Genetic Disease

Andy Itsara, Gregory M. Cooper, Carl Baker et al. · The American Journal of Human Genetics · 2009 · 628 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

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 · 412 citations · Full text

Life Sciences, Genetics, Neuroscience +16