An unusual clinical severity of 16p11.2 deletion syndrome caused by unmasked recessive mutation of CLN3

Large, rare chromosomal deletions associated with severe early-onset obesity

Elena G. Bochukova, Ni Huang, Julia M. Keogh et al. · Nature · 2009 · 616 citations

Obesity, Metabolic Syndrome, Metabolic Disorder +4

Extending the phenotype of recurrent rearrangements of 16p11.2: Deletions in mentally retarded patients without autism and in normal individuals

Emilia K. Bijlsma, A.C.J. Gijsbers, Janneke Schuurs-Hoeijmakers et al. · European Journal of Medical Genetics · 2009 · 292 citations

Normal Individuals, Psychiatry, Syndromic Autism +11

Discovery of a previously unrecognized microdeletion syndrome of 16p11.2–p12.2

Blake C. Ballif, Sara A. Hornor, Elizabeth S. Jenkins et al. · Nature Genetics · 2007 · 250 citations

Genetic Disorder, Medicine, Genetics +4

Recurrent 200-kb deletions of 16p11.2 that include the SH2B1 gene are associated with developmental delay and obesity

Ruxandra Bachmann‐Gagescu, Heather C. Mefford, Charles A. Cowan et al. · Genetics in Medicine · 2010 · 239 citations · Full text

Recurrent 200-Kb Deletions, Developmental Biology, Sh2b1 Gene +11

Mutations of the P Gene in Oculocutaneous Albinism, Ocular Albinism, and Prader-Willi Syndrome Plus Albinism

Seung‐Taek Lee, Robert D. Nicholls, Sarah Bundey et al. · New England Journal of Medicine · 1994 · 231 citations · Full text