Use of genome-wide SNP homozygosity mapping in small pedigrees to identify new mutations in VSX2 causing recessive microphthalmia and a semidominant inner retinal dystrophy

Merlin—rapid analysis of dense genetic maps using sparse gene flow trees

Gonçalo R. Abecasis, Stacey S. Cherny, William Cookson et al. · Nature Genetics · 2001 · 3.4K citations

Life Sciences, Bioinformatics, Genetics +15

Mutations in a new member of the chromodomain gene family cause CHARGE syndrome

Lisenka E.L.M. Vissers, Conny M.A. van Ravenswaaij, R.J.C. Admiraal et al. · Nature Genetics · 2004 · 1.3K citations

Life Sciences, Genetics, Molecular Genetics +4

Genotyping of Single-Nucleotide Polymorphisms by High-Resolution Melting of Small Amplicons

Michael Liew, Robert J. Pryor, Robert Palais et al. · Clinical Chemistry · 2004 · 658 citations · Full text

Life Sciences, Genetics, Molecular Genetics +13

Mutations in SOX2 cause anophthalmia

Judy Fantes, Nicola Ragge, Sally Ann Lynch et al. · Nature Genetics · 2003 · 543 citations

Medicine, Genetics, Molecular Genetics +9

Ocular retardation mouse caused by Chx10 homeobox null allele: impaired retinal progenitor proliferation and bipolar cell differentiation

Margit Burmeister, Jakub Novák, Mei-Ying Liang et al. · Nature Genetics · 1996 · 520 citations

Medicine, Genetics, Molecular Genetics +12