Norio Niikawa

A second generation human haplotype map of over 3.1 million SNPs

Liuda Ziaugra, Chibuzor Nkwodimmah, Missy Dixon et al. · Nature · 2007 · 4.5K citations · Full text

Haplotype Determination, Genotype-phenotype Association, Medicine +7

Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome

Sarah Ng, Abigail W. Bigham, Kati J. Buckingham et al. · Nature Genetics · 2010 · 1.3K citations · Full text

Engineering, Mendelian Disorder, Identifies Mll2 Mutations +9

Mapping Human Genetic Diversity in Asia

Mahmood Ameen Abdulla, Ikhlak Ahmed, Anunchai Assawamakin et al. · Science · 2009 · 723 citations

Haplotype Determination, Genotype-phenotype Association, Molecular Ecology +13

Haploinsufficiency of NSD1 causes Sotos syndrome

Naohiro Kurotaki, Kiyoshi Imaizumi, Naoki Harada et al. · Nature Genetics · 2002 · 655 citations

Clinical Disorders, Sotos Syndrome, Neurological Disorder +5

Heterozygous TGFBR2 mutations in Marfan syndrome

Takeshi Mizuguchi, Gwenaëlle Collod‐Béroud, Takushi Akiyama et al. · Nature Genetics · 2004 · 612 citations · Full text

Marfan Syndrome, Mendelian Disorder, Genetic Disorder +4