Alberto S. Cornier

Identification of the gene (BBS1) most commonly involved in Bardet-Biedl syndrome, a complex human obesity syndrome

Kirk Mykytyn, Darryl Nishimura, Charles Searby et al. · Nature Genetics · 2002 · 353 citations

Obesity, Metabolic Syndrome, Body Composition +13

Evaluation of Complex Inheritance Involving the Most Common Bardet-Biedl Syndrome Locus (BBS1)

Kirk Mykytyn, Darryl Nishimura, Charles Searby et al. · The American Journal of Human Genetics · 2003 · 136 citations · Full text

Mendelian Disorder, Genetic Disorder, Medicine +8

Mutations in the MESP2 Gene Cause Spondylothoracic Dysostosis/Jarcho-Levin Syndrome

Alberto S. Cornier, Karen Staehling-Hampton, Kym Delventhal et al. · The American Journal of Human Genetics · 2008 · 87 citations · Full text

Disease Mechanism, Genetic Disorder, Genetics +2

Phenotype characterization and natural history of spondylothoracic dysplasia syndrome: A series of 27 new cases

Alberto S. Cornier, Norman Ramírez, Sandra Arroyo et al. · American Journal of Medical Genetics Part A · 2004 · 72 citations

Clinical and radiological distinction between spondylothoracic dysostosis (Lavy-Moseley syndrome) and spondylocostal dysostosis (Jarcho-Levin syndrome)

Walter E. Berdon, Brooke S. Lampl, Alberto S. Cornier et al. · Pediatric Radiology · 2010 · 64 citations

Rheumatology, Osteopathy, Spondyloarthritis +10